CEGH-CEL - Human Genome and Stem Cell Research Center

• Grant number: 13/08028-1
• Support Opportunities: Research Grants - Research, Innovation and Dissemination Centers - RIDC
• Start date: July 01, 2013
• End date: June 30, 2026
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Mayana Zatz
• Grantee: Mayana Zatz
• Host Institution: Instituto de Biociências (IB). Universidade de São Paulo (USP). São Paulo , SP, Brazil
• Pesquisadores principais:( Atuais ): Ana Cristina Victorino Krepischi ; Eliana Maria Beluzzo Dessen ; Ésper Abrão Cavalheiro ; Maria Rita dos Santos e Passos Bueno ; Mariz Vainzof ; Merari de Fátima Ramires Ferrari ; Oswaldo Keith Okamoto ; Regina Célia Mingroni Netto
• Pesquisadores principais:( Anteriores ): Angela Maria Vianna Morgante ; Carla Rosenberg ; Celia Priszkulnik Koiffmann ; Peter Lees Pearson
• Associated researchers: Ana Cristina Victorino Krepischi ; Angela Maria Vianna Morgante ; Carlos Frederico Martins Menck ; Celia Priszkulnik Koiffmann ; David Schlesinger ; Débora Romeo Bertola ; Edson Amaro Junior ; Fernando Kok ; Joao Paulo Fumio Whitaker Kitajima ; Jorge Elias Kalil Filho ; Luciana Amaral Haddad ; Luis Eduardo Soares Netto ; Maria Dulcetti Vibranovski ; Maria Lúcia Lebrão ; Merari de Fátima Ramires Ferrari ; Miguel Mitne Neto ; Nivaldo Alonso ; Peter Lees Pearson ; Rita de Cássia Mingroni Pavanello ; Tatiana Teixeira Torres ; Valdemir Melechco Carvalho ; Venancio Avancini Ferreira Alves ; Verônica Porto Carreiro de Vasconcellos Coelho ; Yeda Aparecida de Oliveira Duarte
• Associated research grant(s): 22/11064-9 - Application of Hi-C and machine-learning tools towards detection and clinical interpretation of novel genomic variants in rare genetic diseases, AV.EXT; 22/03787-0 - EMU granted in FAPESP process 13/ 08028-1 - Mayana Zatz: BD FACSymphony" Flow Cytometer, AP.EMU; 22/04037-5 - Multi-user equipment approved in grant 13/08028-1: single cell analysis chromiun, AP.EMU; + associated grants 20/05949-2 - Rapid, low-cost and efficient molecular diagnostics and large-scale population testing strategies for COVID-19 management, AP.R; 19/05654-5 - Investigation of alphoid satellite DNA loss in centromeric regions in general population and in pediatric tumors, AV.EXT; 16/50021-2 - Cancer stem cell interactome mapping, AP.R SPRINT; 14/20796-7 - Synaptopathies in neurodevelopmental disorders: SHANK mutations as a window into synaptic function, AR.EXT - associated grants
• Associated scholarship(s): 24/16454-5 - Study of genetic variants associated with overweight and obesity in semi-isolated Brazilian populations from quilombo remnants, BP.MS; 24/20965-5 - Evaluation of the Infection Profile and COVID-19 Response in Alveolar Cells Differentiated from iPSCs of Centenarian Volunteers, BP.TT; 24/20105-6 - "Generation of 3D Cardiac Organoids from iPSCs of Brazilian Supercentenarians", BP.TT; + associated scholarships 24/05832-9 - Enhancing the scope of NGS sequencing services provided by the FAPESP/USP multi-user facility at the Human Genome and Stem Cell Research Center (HUG-CEL)., BP.TT; 23/14401-9 - The regenerative process in the murine model dy2J, with deficiency in a2-laminin, BP.IC; 23/14178-8 - Induction of the resistance to chemotherapy phenotype after prolonged treatment of glioblastoma organoids with Temozolomide, BP.IC; 23/07376-8 - Assessment of the therapeutic potential of modifications in Notch3 in mdx mice and DMD pigs, BP.DR; 23/02551-6 - Effects of TBCK deficiency, responsible for IHPRF3 Neurodegenerative Syndrome, on the neural differentiation process, BP.DD; 23/08741-1 - Phenotypic profile analyzes of stem cell-derived cell lineages., BP.TT; 23/07800-4 - Analysis of the degeneration/regeneration process in animal models and patients with neuromuscular diseases, BP.TT; 23/09287-2 - Muscular Dystrophies: New Therapeutic Strategies Based on Protective Mechanisms, BP.TT; 23/08976-9 - Establishment of cortical organoid systems for the investigation of genetic neurodevelopmental disorders., BP.TT; 23/07400-6 - Comparative analysis of animal models of muscular dystrophy - Histopathology, muscle satellite cell location and strength tests, BP.TT; 23/01887-0 - Investigation of epigenetic mechanisms in the etiology of Autism Spectrum Disorder in dystrophinopathies, BP.DD; 23/02209-6 - Analysis of the oncolytic effect of ZIKV on temozolomide-resistant glioblastoma cells, BP.MS; 22/14114-7 - Comparative analysis of muscular dystrophy models - Histopathology, animal cell localization and muscle strength tests, BP.TT; 22/03980-5 - GENOMIC AND FUNCTIONAL STUDY OF SYNDROMIC FORMS OF INTELLECTUAL DISABILITY, BP.PD; 22/14129-4 - Analysis of possible phenotype-modifying genes of muscular dystrophy, BP.TT; 22/14345-9 - Expansion of biological diversity and cost reduction in genomic sequencing in CEGH-CEL, BP.TT; 22/07972-7 - Maternal inflammation as a risk factor for cleft lip and palate development in individuals with CDH1 loss of function, BP.MS; 22/05677-8 - Causative molecular mechanisms of Autism Spectrum Disorder in patients with dystrophinopathy, BP.DR; 22/02212-4 - Development of Blood-Brain Barrier (BBB)-on-a-chip in vitro models to study Zika Virus oncolytic activity and drug permeability in Brain Cancer treatment, BP.PD; 22/04953-1 - Implementation and management of a solution for bioinformatics applications in Docker: monitoring users, costs and flows, BP.TT; 22/03577-6 - Implementation of pipelines/workflows in the cloud for bioinformatics analysis of genomic data from the Center for Human Genome and Stem Cell Studies (CEGH-CEL), BP.TT; 22/02463-7 - Analysis of dysferlin and the formation of its protein tricomplex FAM65b-HDAC6-DYSF during the different phases of muscle differentiation, BP.IC; 22/02649-3 - Analysis of the expression of different forms of myosin in vitro in myogenesis process in cellular models for neuromuscular diseases, BP.IC; 22/01953-0 - Bioinformatics pipelines implementation to analyze human whole-genome and transcriptome sequencing, BP.TT; 21/04323-5 - Evaluation of EZH2 expression and activity as factors of cellular susceptibility to Zika Virus infection in embryonic central nervous system tumors, BP.PD; 21/00689-5 - Development of a chimeric antigen receptor for application on glioblastoma treatment, BP.MS; 20/11495-4 - Risk variants investigation in patients with Autism Spectrum Disorder, BP.IC; 20/08189-9 - In vitro characterization of the redox state and TCOF1 expression during human craniofacial development, BP.IC; 19/21290-3 - Database development of genetic variants (Desbravar: Sequence Repository of Brazilian Variants), BP.TT; 19/19998-8 - Development of pipeline for copy number variation (CNVs) analysis, BP.TT; 19/20768-7 - Development and implementation of NGS data processing tools and database for analysis and storage and genetic variants, BP.TT; 19/18469-1 - Development of universal hepatic organoids produced from IPS cells, BP.PD; 18/08486-3 - Genetic bases of Syndromic Obesity and molecular mechanisms involved in its physiopathology, BP.DR; 18/20373-0 - Characterization of the proteic interactoma of the pluripotency factor L1TD1 in central nervous system tumour stem cells and neural stem cells, BP.IC; 18/05961-2 - Identification of genetic variants related to cancer predisposition in cohort of patients with embryonal tumors or pediatric tumors and additional clinical signs, BP.PD; 16/14517-3 - Search for "protective" modifying variants/mechanisms in asymptomatic or very mildly affected individuals with pathogenic mutation in SPAST gene, BP.PD; 17/16283-2 - Development of tissue bioengineering techniques for the functional reconstruction of ex vivo iPSC cell livers, BP.PD; 17/11430-7 - Interaction of genetic and epigenetic factors in response to inflammation for the predisposition to cleft lip-palate, BP.PD; 17/05824-2 - Investigation of parents de novo risk variants in Autism Spectrum Disorder (ASD), BP.DR; 16/23648-4 - Investigation of the etiological relevance of novel candidate genes to orofacial clefts, BP.PD; 16/24188-7 - Modelling Richieri-Costa-Pereira Syndrome with the use of induced pluripotent stem cells, BP.PD; 16/17392-7 - ASSOCIATION STUDY OF RARE VARIANTS IN CANDIDATE GENES FOR OROFACIAL CLEFTS IN THE BRAZILIAN POPULATION, BP.DR; 15/18914-4 - Study of the regenerative potential of satellite cells in centronuclear myopathy and myogenic capacity of its released microvesicles, BP.DR; 15/19435-2 - Therapeutic analysis of human immunoglobulin G in a mouse model for Duchenne Muscular Dystrophy, BP.IC; 15/14821-1 - Development of functional hepatic by-pass using iPSCs-derived cells, BP.DR; 15/18130-3 - Analysis of the autophagic pathway in the dystrophic muscle., BP.MS; 14/23043-0 - Identification of miRNAs with critical function in neurogenesis and oncogenesis, BP.PD; 15/08563-0 - DYRK1A regulation by microRNAs in cultured neurons from the hippocampus of mice models of human trisomy 21 and its relation with Alzheimer's Disease, BP.IC; 15/06786-1 - Stress of endoplasmic reticulum and expression of VAPB and Rab1 in cultured motor neurons from a mouse model of Amyotrophic Lateral Sclerosis, BP.IC; 14/24541-3 - Use of GFP fusions to analyze the mechanisms of toxicity of human VAPB expressed in Saccharomyces cerevisiae, BP.IC; 14/17132-0 - Use of Next Generation Sequencing to study karyotypes with different number of X chromosome, BP.PD; 14/13056-7 - Characterization of INDELs and small CNVs in patients with autism spectrum disorder, BP.MS; 14/10519-6 - Hippo signaling pathway and asymmetric division of cancer stem cells derived from human medulloblastoma, BP.PD; 13/14996-0 - Detection of fetal genetic disorders through non-invasive prenatal testing using next-generation sequencing, BP.DR; 12/09950-9 - Evolution of HLA genes: population differentiation and signatures of recent selection in native and admixed populations from Brazil, BP.PD; 12/50154-1 - Identification of connexin 26 binding proteins, BP.PD; 11/50856-3 - Role of cellular microenvironment in molecular mechanisms of resistance to chemotherapy in a human mammary carcinoma model, BP.PD - associated scholarships

Abstract

The Human Genome Research Center (HGRC-CEPID I) was initiated in 2000 with the main goal of increasing our basic knowledge and diagnosis of prevalent genetic diseases in the Brazilian population. The HGRC concentrated largely on Mendelian disorders, mainly neuromuscular, craniofacial, and mental disability. The scope was expanded in 2005 by incorporating stem-cell research, both as a tool to understand gene expression and differentiation in genetic disorders and to evaluate its potential in disease therapy. Our research has allowed us to address questions on the genetic regulation of particular complex disorders such as autism and various neurodegenerative diseases. However, the unanticipated complexity of the transcriptional mechanisms regulating gene expression in humans that emerged from the Human Genome Project, and the modest advances in improving the effectiveness of genetic health care have opened new fields of investigation. In this CEPID 11 application, we have expanded the scientific breadth to include ageing and degeneration and how factors such as genome instability contribute to the aging process; the role of imprinting mechanisms on disease manifestation; which factors determine differences in the rate of brain degeneration between individuals, which constitutes a rapidly increasing health care burdon as the average life-span of the world population rises; what determines phenotypic variability between individuals carrying the same mutation. To address these questions we will use up to date approaches, particularly the use of second generation sequencing and sophisticated cell sorting, incorporate a much broader base of scientific expertise, optimize inter-group synergy as well as national and international research collaboration. The plan also contributes to translational medicine mainly in the application of stem-cells in preclinical studies and therapeutic trials for particular genetic disorders. The great number of patients with different genetic disorders that have been ascertained and registered in our center, the largest one in Latin America, and the ethnic variability of the Brazilian population provides an extremely rich foundation for the proposed studies. We are positive that the knowledge gained from CEPID 11 will have an important impact on genetic health care in Brazil. However, such an ambitious and integrated program can only be expedited by the flexibility and long term security offered by CEPID funding. (AU)

Scientific publications

(256)

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

VILLELA, DARINE; RAMALHO, RODRIGO F.; SILVA, ADERBAL R. T.; BRENTANI, HELENA; SUEMOTO, CLAUDIA K.; PASQUALUCCI, CARLOS AUGUSTO; GRINBERG, LEA T.; KREPISCHI, ANA C. V.; ROSENBERG, CARLA. Differential DNA Methylation of MicroRNA Genes in Temporal Cortex from Alzheimer's Disease Individuals. NEURAL PLASTICITY, 2016. (09/00898-1, 10/15503-0, 13/08028-1)

BATISSOCO, ANA C.; SALAZAR-SILVA, RODRIGO; OITICICA, JEANNE; BENTO, RICARDO F.; MINGRONI-NETTO, REGINA C.; HADDAD, LUCIANA A.. A Cell Junctional Protein Network Associated with Connexin-26. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, v. 19, n. 9, SEP 2018. (12/50154-1, 13/08028-1)

KIMURA, LILIAN; NUNES, KELLY; INES MACEDO-SOUZA, LUCIA; ROCHA, JORGE; MEYER, DIOGO; MINGRONI-NETTO, REGINA CELIA. Inferring paternal history of rural African-derived Brazilian populations from Y chromosomes. AMERICAN JOURNAL OF HUMAN BIOLOGY, v. 29, n. 2, SI, MAR-APR 2017. (98/14254-2, 12/18010-0, 12/09950-9, 13/08028-1)

GRIESI-OLIVEIRA, K.; FOGO, M. S.; PINTO, B. G. G.; ALVES, A. Y.; SUZUKI, A. M.; MORALES, A. G.; EZQUINA, S.; SOSA, O. J.; SUTTON, G. J.; SUNAGA-FRANZE, D. Y.; et al. Transcriptome of iPSC-derived neuronal cells reveals a module of co-expressed genes consistently associated with autism spectrum disorder. MOLECULAR PSYCHIATRY, FEB 2020. (14/10068-4, 16/50324-5, 13/08028-1)

VILLELA, DARINE; SUEMOTO, CLAUDIA K.; LEITE, RENATA; PASQUALUCCI, CARLOS AUGUSTO; GRINBERG, LEA T.; PEARSON, PETER; ROSENBERG, CARLA. Increased DNA Copy Number Variation Mosaicism in Elderly Human Brain. NEURAL PLASTICITY, 2018. (14/17132-0, 13/08028-1)

MALCHER, CAROLINA; YAMAMOTO, GUILHERME L.; BURNHAM, PHILIP; EZQUINA, SUZANA A. M.; LOURENCO, V, NAILA C.; BALKASSMI, SAHILLA; MARCO ANTONIO, DAVID S.; HSIA, GABRIELLA S. P.; GOLLOP, THOMAZ; PAVANELLO, RITA C.; et al. Development of a comprehensive noninvasive prenatal test. GENETICS AND MOLECULAR BIOLOGY, v. 41, n. 3, p. 545-554, JUL-SEP 2018. (15/11998-8, 13/14996-0, 13/08028-1)

CARDOSO, FABRIZIO DOS SANTOS; DE SOUZA OLIVEIRA TAVARES, CRISTIANE; ARAUJO, BRUNO HENRIQUE SILVA; MANSUR, FERNANDA; LOPES-MARTINS, RODRIGO ALVARO BRANDAO; GOMES DA SILVA, SERGIO. Improved Spatial Memory And Neuroinflammatory Profile Changes in Aged Rats Submitted to Photobiomodulation Therapy. Cellular and Molecular Neurobiology, MAR 2021. (13/08028-1, 17/16443-0)

KAID, CAROLINI; SILVA, PATRICIA B. G.; CORTEZ, BEATRIZ A.; RODINI, CAROLINA O.; SEMEDO-KURIKI, PATRICIA; OKAMOTO, OSWALDO K.. miR-367 promotes proliferation and stem-like traits in medulloblastoma cells. Cancer Science, v. 106, n. 9, p. 1188-1195, SEP 2015. (14/10519-6, 11/10001-9, 10/52686-5, 13/02983-1, 13/08028-1, 13/17566-7)

CASTRO, L. P.; SAHBATOU, M.; KEHDY, F. S. G.; FARIAS, A. A.; YURCHENKO, A. A.; DE SOUZA, T. A.; ROSA, R. C. A.; MENDES-JUNIOR, C. T.; BORDA, V; MUNFORD, V; et al. The Iberian legacy into a young genetic xeroderma pigmentosum cluster in central Brazil. MUTATION RESEARCH-GENETIC TOXICOLOGY AND ENVIRONMENTAL MUTAGENESIS, v. 852, n. SI, APR 2020. (14/15982-6, 13/08028-1)

MELO, T. Q.; VAN ZOMEREN, K. C.; FERRARI, M. F. R.; BODDEKE, H. W. G. M.; COPRAY, J. C. V. M.. Impairment of mitochondria dynamics by human A53T alpha-synuclein and rescue by NAP (davunetide) in a cell model for Parkinson's disease. Experimental Brain Research, v. 235, n. 3, p. 731-742, MAR 2017. (12/15495-2, 13/08028-1)

NUNES, KELLY; ZHENG, XIUWEN; TORRES, MARGARETH; MORAES, MARIA ELISA; PIOVEZAN, BRUNO Z.; PONTES, GERLANDIA N.; KIMURA, LILIAN; CARNAVALLI, JULIANA E. P.; MINGRONI NETTO, REGINA C.; MEYER, DIOGO. HLA imputation in an admixed population: An assessment of the 1000 Genomes data as a training set. HUMAN IMMUNOLOGY, v. 77, n. 3, p. 307-312, MAR 2016. (12/09950-9, 12/18010-0, 13/08028-1)

LINNENKAMP, BIANCA; GIRARDI, RAISSA; ROCHA, LETICIA; YAMAMOTO, GUILHERME; CERONI, JOSE RICARDO; MENDES, ANTONIA ELISABETH CRISTHINA; HONJO, RACHEL; OLIVEIRA, LUIZ ANTONIO; AMEMIYA, RAPHAEL BRUNO; QUAIO, CAIO; et al. Vertebral segmentation defects in a Brazilian cohort: Clinical and molecular analysis focused on spondylocostal dysostosis. Clinical Genetics, v. 101, n. 4, p. 3-pg., 2022-02-09. (13/08028-1)

SEMEANO, ANA T.; TOFOLI, FABIANO A.; CORREA-VELLOSO, JULIANA C.; DE JESUS SANTOS, ANA P.; OLIVEIRA-GIACOMELLI, AGATHA; CARDOSO, RAFAELA R.; PESSOA, MATEUS A.; DA ROCHA, EDROALDO LUMMERTZ; RIBEIRO, GUSTAVO; FERRARI, MERARI F. R.; et al. Effects of Magnetite Nanoparticles and Static Magnetic Field on Neural Differentiation of Pluripotent Stem Cells. STEM CELL REVIEWS AND REPORTS, v. 18, n. 4, p. 18-pg., 2022-03-24. (18/07366-4, 19/26852-0, 16/14513-8, 13/08028-1, 18/07592-4, 13/08135-2)

PALACIOS-MUNOZ, ANGELINA; DE PAULA MOREIRA, DANIELLE; SILVA, VALERIA; GARCIA, ISAAC E.; ABOITIZ, FRANCISCO; ZARREI, MEHDI; CAMPOS, GABRIELE; RENNIE, OLIVIA; HOWE, JENNIFER L.; ANAGNOSTOU, EVDOKIA; et al. Mutations in trp gamma, the homologue of TRPC6 autism candidate gene, causes autism-like behavioral deficits in Drosophila. MOLECULAR PSYCHIATRY, v. N/A, p. 15-pg., 2022-05-02. (13/08028-1)

MORENO, NATALIA CESTARI; DE SOUZA, TIAGO ANTONIO; MACHADO GARCIA, CAMILA CARRIAO; RUIZ, NATHALIA QUINTERO; CORRADI, CAMILA; CASTRO, LIGIA PEREIRA; MUNFORD, VERIDIANA; IENNE, SUSAN; ALEXANDROV, LUDMIL B.; MARTINS MENCK, CARLOS FREDERICO. Whole-exome sequencing reveals the impact of UVA light mutagenesis in xeroderma pigmentosum variant human cells. Nucleic Acids Research, v. 48, n. 4, p. 1941-1953, FEB 28 2020. (14/15982-6, 12/16929-6, 13/08028-1, 18/06619-6)

LIMA, RAQUEL S.; CARRETTIERO, DANIEL C.; FERRARI, MERARI F. R.. BAG2 prevents Tau hyperphosphorylation and increases p62/SQSTM1 in cell models of neurodegeneration. MOLECULAR BIOLOGY REPORTS, v. N/A, p. 13-pg., 2022-05-25. (11/06434-7, 13/08028-1, 18/07592-4, 17/24722-6, 16/04409-9)

SILVA, MATHEUS MOLINA; REILY ROCHA, CLARISSA RIBEIRO; KINKER, GABRIELA SARTI; PELEGRINI, ALESSANDRA LUIZA; MARTINS MENCK, CARLOS FREDERICO. The balance between NRF2/GSH antioxidant mediated pathway and DNA repair modulates cisplatin resistance in lung cancer cells. SCIENTIFIC REPORTS, v. 9, NOV 27 2019. (14/15982-6, 15/15184-5, 13/08028-1, 17/24217-0)

MELO, THAIANY QUEVEDO; COPRAY, SJEF J. C. V. M.; FERRARI, MERARI F. R.. Alpha-Synuclein Toxicity on Protein Quality Control, Mitochondria and Endoplasmic Reticulum. Neurochemical Research, v. 43, n. 12, p. 2212-2223, DEC 2018. (13/08028-1, 11/06434-7, 15/18961-2)

GIRARDI, ANA CRISTINA DE SANCTIS; VAN OPSTAL TAKAHASHI, VANESSA NAOMI; VADASZ, ESTEVAO; COSTA, CLAUDIA ISMANIA SAMOGI; ZACHI, ELAINE CRISTINA; VIANNA-MORGANTE, ANGELA M.; PASSOS-BUENO, MARIA RITA. FMR1 premutation in children with autism spectrum disorders: Should additional diagnostic tests be performed?. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, JAN 2022. (13/08028-1)

BUENO, ANDRE S.; NUNES, KELLY; DIAS, ALEX M. M.; ALVES, LEANDRO U.; MENDES, BEATRIZ C. A.; SAMPAIO-SILVA, JULIANA; SMITS, JEROEN; YNTEMA, HELGER G.; MEYER, DIOGO; LEZIROVITZ, KARINA; et al. Frequency and origin of the c.2090T > G p.(Leu697Trp) MYO3A variant associated with autosomal dominant hearing loss. European Journal of Human Genetics, v. 30, n. 1, p. 13-21, JAN 2022. (13/08028-1)

CASTRO, LIGIA PEREIRA; BATISTA-VIEIRA, DANILO; DE SOUZA, TIAGO ANTONIO; TIMOTEO, ANA RAFAELA DE SOUZA; COUTINHO, JESSICA DAYANNA LANDIVAR; PINHEIRO DE ALMEIDA, ISABEL CRISTINA; HENRIQUES, SHEILA RAMOS DE MIRANDA; AZEVEDO, FABIO MEDEIROS DE; ROSA, REGINALDO CRUZ ALVES; KANNOUCHE, PATRICIA L.; et al. PC and POLH/XPV Genes Mutated in a Genetic Cluster of Xeroderma Pigmentosum Patients in Northeast Brazi. FRONTIERS IN GENETICS, v. 12, JAN 17 2022. (19/19435-3, 13/08028-1)

DA ROCHA, LETICIA ALVES; LACERDA PIRES, LUCAS VIEIRA; YAMAMOTO, GUILHERME LOPES; MAGLIOCCO CERONI, JOSE RICARDO; HONJO, RACHEL SAYURI; FRANCA BISNETO, EDGARD DE NOVAES; NUNES OLIVEIRA, LUIZ ANTONIO; ROSENBERG, CARLA; VICTORINO KREPISCHI, ANA CRISTINA; PASSOS-BUENO, MARIA RITA; et al. Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms. Clinical Genetics, v. 100, n. 5, AUG 2021. (13/08028-1)

SAMOGY-COSTA, CLAUDIA ISMANIA; VARELLA-BRANCO, ELISA; MONFARDINI, FREDERICO; FERRAZ, HELEN; FOCK, RODRIGO AMBROSIO; ALMEIDA BARBOSA, RICARDO HENRIQUE; SANTOS PESSOA, ANDRE LUIZ; ALVAREZ PEREZ, ANA BEATRIZ; LOURENCO, NAILA; VIBRANOVSKI, MARIA; et al. A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case. JOURNAL OF NEURODEVELOPMENTAL DISORDERS, v. 11, JUL 18 2019. (16/17392-7, 13/08028-1)

GOULART, ERNESTO; DE CAIRES-JUNIOR, LUIZ CARLOS; TELLES-SILVA, KAYQUE ALVES; SILVA ARAUJO, BRUNO HENRIQUE; KOBAYASHI, GERSON S.; MUSSO, CAMILA MANSO; ASSONI, AMANDA FARIA; OLIVEIRA, DANYLLO; CALDINI, ELIA; GERSTENHABER, JONATHAN A.; et al. Adult and iPS-derived non-parenchymal cells regulate liver organoid development through differential modulation of Wnt and TGF-beta. STEM CELL RESEARCH & THERAPY, v. 10, n. 1, AUG 15 2019. (13/08028-1)

NASLAVSKY, MICHEL SATYA; SUEMOTO, CLAUDIA K.; BRITO, LUCIANO ABREU; SCLIAR, MARILIA OLIVEIRA; FERRETTI-REBUSTINI, RENATA ELOAH; RODRIGUEZ, ROBERTA DIEHL; LEITE, RENATA E. P.; ARAUJO, NATHALIA MATTA; BORDA, VICTOR; TARAZONA-SANTOS, EDUARDO; et al. Global and local ancestry modulate APOE association with Alzheimer's neuropathology and cognitive outcomes in an admixed sample. MOLECULAR PSYCHIATRY, v. 27, n. 11, p. 9-pg., 2022-09-07. (16/24326-0, 13/08028-1, 06/55318-1, 18/16626-0, 14/50931-3, 09/09134-4)

NOBREGA, JULIA CRISTINA LEITE; MEDEIROS, JULIANA BARBOSA; DA SILVA FREITAS, JAVANNA LACERDA GOMES; SILVA, JAIZA M. M.; SIMOES, RAISA FERNANDES MARIZ; OLINDA, RICARDO; DE FERREIRA SANTOS, JAIR LICIO; MENEZES, TARCIANA NOBRE; DE OLIVEIRA DUARTE, YEDA APARECIDA; ZATZ, MAYANA; et al. sychosocial aspects and support networks associated with disability in two longevous populations in Brazil: a cross-sectional stud. BMC GERIATRICS, v. 22, n. 1, FEB 9 2022. (14/50931-3, 05/54947-2, 13/08028-1, 09/53778-3)

MELO, UIRA SOUTO; BONNER, DEVON; KENT LLOYD, KEVIN C.; MOSHIRI, ALA; WILLIS, BRANDON; LANOUE, LOUISE; BOWER, LYNETTE; LEONARD, BRIAN C.; MARTINS, DAVI JARDIM; GOMES, FERNANDO; et al. Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay. Genetics in Medicine, v. 23, n. 4, JAN 2021. (14/15982-6, 13/08028-1, 16/14517-3)

DE CASTRO, MATEUS, V; SILVA, MONIZE V. R.; NASLAVSKY, MICHEL S.; SCLIAR, MARILIA O.; NUNES, KELLY; PASSOS-BUENO, MARIA RITA; CASTELLI, ERICK C.; MAGAWA, JHOSIENE Y.; ADAMI, FLAVIA L.; MORETTI, ANA I. S.; et al. The oldest unvaccinated Covid-19 survivors in South America. IMMUNITY & AGEING, v. 19, n. 1, p. 9-pg., 2022-11-16. (14/50890-5, 17/19223-0, 14/50931-3, 13/08028-1)

ALVIZI, LUCAS; BRITO, LUCIANO ABREU; KOBAYASHI, GERSON SHIGERU; BISCHAIN, BARBARA; FERNANDES DA SILVA, CAMILA BASSI; GUIMARAES RAMOS, SOFIA LIGIA; WANG, JAQUELINE; PASSOS-BUENO, MARIA RITA. mir152 hypomethylation as a mechanism for non-syndromic cleft lip and palate. Epigenetics, v. 17, n. 13, p. 18-pg., 2022-09-01. (13/08028-1, 16/23648-4)

KAID, CAROLINI; DOS SANTOS MADI, RAQUEL AZEVEDO; ASTRAY, RENATO; GOULART, ERNESTO; CAIRES-JUNIOR, LUIZ CARLOS; MITSUGI, THIAGO GIOVE; RAMOS MORENO, ANA CAROLINA; CASTRO-AMARANTE, MARIA FERNANDA; PEREIRA, LENNON RAMOS; MILAZZOTTO MALDONADO PORCHIA, BRUNA FELICIO; et al. Safety, Tumor Reduction, and Clinical Impact of Zika Virus Injection in Dogs with Advanced-Stage Brain Tumors. MOLECULAR THERAPY, v. 28, n. 5, p. 1276-1286, MAY 6 2020. (13/08028-1)

RIVAS, MARIA PRATES; MARQUES AGUIAR, TALITA FERREIRA; FERNANDES, GUSTAVO RIBEIRO; CAIRES, LUIZ CARLOS; GOULART, ERNESTO; TELLES-SILVA, KAYQUE ALVES; CYPRIANO, MONICA; CAMINADA DE TOLEDO, SILVIA REGINA; ROSENBERG, CARLA; CARRARO, DIRCE MARIA; et al. TET Upregulation Leads to 5-Hydroxymethylation Enrichment in Hepatoblastoma. FRONTIERS IN GENETICS, v. 10, JUN 12 2019. (16/23462-8, 17/16283-2, 16/04785-0, 15/14821-1, 13/08028-1)

MOREIRA, DANIELLE DE PAULA; SUZUKI, ANGELA MAY; TELES E SILVA, ANDRE LUIZ; VARELLA-BRANCO, ELISA; ZOREL MENEGHETTI, MARIA CECILIA; KOBAYASHI, GERSON SHIGERU; FOGO, MARIANA; RAMIRES FERRARI, MERARI DE FATIMA; CARDOSO, RAFAELA REGINA; VILACA LOURENCO, NAILA CRISTINA; et al. Neuroprogenitor Cells From Patients With TBCK Encephalopathy Suggest Deregulation of Early Secretory Vesicle Transport. FRONTIERS IN CELLULAR NEUROSCIENCE, v. 15, p. 15-pg., 2022-01-13. (13/08028-1)

BANDEIRA, GABRIEL; ROCHA, KATIA; LAZAR, MONIZE; EZQUINA, SUZANA; YAMAMOTO, GUILHERME; VARELA, MONICA; TAKAHASHI, VANESSA; AGUENA, MEIRE; GOLLOP, THOMAZ; ZATZ, MAYANA; et al. Germline variants of Brazilian women with breast cancer and detection of a novel pathogenic ATM deletion in early-onset breast cancer. BREAST CANCER, v. 28, n. 2, p. 346-354, MAR 2021. (13/08028-1)

MAHADEVARAJU, SHARVANI; FEAR, JUSTIN M.; AKEJU, MIRIAM; GALLETTA, BRIAN J.; PINHEIRO, MARA M. L. S.; AVELINO, CAMILA C.; CABRAL-DE-MELLO, DIOGO C.; CONLON, KATIE; DELL'ORSO, STAFANIA; DEMERE, ZELALEM; et al. Dynamic sex chromosome expression in Drosophila male germ cells. NATURE COMMUNICATIONS, v. 12, n. 1, FEB 9 2021. (15/20844-4, 17/14923-4, 17/26609-2, 15/16661-1, 13/08028-1, 19/15212-0)

DOUILLARD, VENCESLAS; SILVA, NAYANE DOS SANTOS BRITO; BOURGUIBA-HACHEMI, SONIA; NASLAVSKY, MICHEL S.; SCLIAR, MARILIA O.; DUARTE, YEDA A. O.; ZATZ, MAYANA; PASSOS-BUENO, MARIA RITA; LIMOU, SOPHIE; GOURRAUD, PIERRE-ANTOINE; et al. Optimal population-specific HLA imputation with dimension reduction. HLA, v. 103, n. 1, p. 14-pg., 2023-11-11. (12/24731-1, 15/25020-0, 14/50931-3, 13/08028-1, 17/19223-0, 18/15579-8, 13/17084-2, 20/02413-4, 14/50649-6)

SILVA, MONIZE V. R.; DE CASTRO, MATEUS V.; PASSOS-BUENO, MARIA RITA; OTTO, PAULO A.; NASLAVSKY, MICHEL S.; ZATZ, MAYANA. Men are the main COVID-19 transmitters: behavior or biology?. DISCOVER MENTAL HEALTH, v. 2, n. 1, p. 7-pg., 2022-01-24. (20/09702-1, 14/50931-3, 13/08028-1)

FLORENTINO, P. T. V.; VITORINO, F. N. L.; MENDES, D.; DA CUNHA, J. P. C.; MENCK, C. F. M.. Trypanosoma cruzi infection changes the chromatin proteome profile of infected human cells. JOURNAL OF PROTEOMICS, v. 272, p. 11-pg., 2023-02-10. (13/07467-1, 19/19435-3, 17/18344-9, 13/08028-1, 18/15553-9)

COSTA, CLAUDIA I. SAMOGY; CAMPOS, GABRIELE DA SILVA; MONTENEGRO, EDUARDA MORGANA DA SILVA; WANG, JAQUELINE YU TING; SCLIAR, MARILIA; MONFARDINI, FREDERICO; ZACHI, ELAINE CRISTINA; LOURENCO, NAILA C. V.; CHAN, ADA J. S.; PEREIRA, SERGIO L.; et al. Three generation families: Analysis of de novo variants in autism. European Journal of Human Genetics, v. 31, n. 9, p. 6-pg., 2023-06-06. (13/08028-1, 18/13743-5, 17/05824-2)

AGUIAR, TALITA F.; RODRIGUES, TATIANE; PRATES, MARIA; DOS SANTOS, FERNANDA APARECIDA; FERNANDES, GUSTAVO; LIMA DA COSTA, CECILIA MARIA; DA CUNHA, ISABELA WERNECK; CYPRIANO, MONICA; CAMINADA DE TOLEDO, SILVIA REGINA; DE SOUZA, JORGE ESTEFANO S.; et al. Genomic studies of Brazilian patients with hepatoblastoma: Insight into somatic mutations using whole-exome sequencing. Cancer Research, v. 78, n. 13, p. 3-pg., 2018-07-01. (13/08028-1, 16/04785-0, 17/11212-0)

BERTOLA, D.; MUSSO, C. M.; ROCHA, K.; YAMAMOTO, G. L.; PASSOS-BUENO, M.. Sweeney-Cox syndrome: report of the third patient affected by this new delineated syndrome harboring a novel variant in TWIST1. European Journal of Human Genetics, v. 27, p. 2-pg., 2019-07-01. (13/08028-1, 15/21783-9)

KAID, CAROLINI; SILVA, PATRICIA B. G.; CORTEZ, BEATRIZ A.; RODINI, CAROLINA O.; SEMEDO-KURIKI, PATRICIA; OKAMOTO, OSWALDO K.. miR-367 promotes proliferation and stem-like traits in medulloblastoma cells. CANCER SCIENCE, v. 106, n. 9, p. 8-pg., 2015-09-01. (11/10001-9, 13/17566-7, 10/52686-5, 13/02983-1, 14/10519-6, 13/08028-1)

LATANCIA, MARCELA TEATIN; DA SILVA LEANDRO, GIOVANA; BASTOS, ANDRE UCHIMURA; MORENO, NATALIA CESTARI; ARIWOOLA, ABU-BAKR ADETAYO; MARTINS, DAVI JARDIM; ASHTON, NICHOLAS WILLIAM; RIBEIRO, VICTORIA CHAVES; HOCH, NICOLAS CARLOS; ROCHA, CLARISSA RIBEIRO REILY; et al. Human translesion DNA polymerases ι and κ mediate tolerance to temozolomide in MGMT-deficient glioblastoma cells. DNA Repair, v. 141, p. 13-pg., 2024-07-18. (19/19435-3, 18/10061-0, 13/08028-1)

CHEN, HAN; MONGA, MEHAR; FANG, QINGHUA; SLITIN, LOUJIN; NEEF, JAKOB; CHEPURWAR, SHASHANK S.; NETTO, REGINA CELIA MINGRONI; LEZIROVITZ, KARINA; TABITH JR, ALFREDO; BENSELER, FRITZ; et al. Ca²⁺ binding to the C₂E domain of otoferlin is required for hair cell exocytosis and hearing. PROTEIN & CELL, v. 15, n. 4, p. 8-pg., 2024-01-11. (13/08028-1)

FONTELONGA, TATIANA; HALL, ARIELLE J.; BROWN, JAEDON L.; JUNG, YOUNGSOOK L.; ALEXANDER, MATTHEW S.; DOMINOV, JANICE A.; MOULY, VINCENT; VIEIRA, NATASSIA; ZATZ, MAYANA; VAINZOF, MARIZ; et al. Tetraspanin CD82 Associates with Trafficking Vesicle in Muscle Cells and Binds to Dysferlin and Myoferlin. ADVANCED BIOLOGY, v. N/A, p. 10-pg., 2023-07-12. (13/08028-1)

FERNANDES, STEPHANIE A.; ALMEIDA, CAMILA F.; SOUZA, LUCAS S.; LAZAR, MONIZE; ONOFRE-OLIVEIRA, PAULA; YAMAMOTO, GUILHERME L.; NOGUEIRA, LETICIA; TASAKI, LETICIA Y.; CARDOSO, RAFAELA R.; PAVANELLO, RITA C. M.; et al. Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy. Disease Models & Mechanisms, v. 13, n. 2, p. 12-pg., 2020-02-01. (13/08028-1, 15/18130-3)

PIRES, SARA FERREIRA; TOLEZANO, GIOVANNA CANTINI; DA COSTA, SILVIA SOUZA; KAWAHIRA, RACHEL SAYURI HONJO; KIM, CHONG AE; ROSENBERG, CARLA; TEIXEIRA, ANNE CAROLINE BARBOSA; BERTOLA, DEBORA ROMEO; KREPISCHI, ANA CRISTINA VICTORINO. Expanding the role of SETD5 haploinsufficiency in neurodevelopment and neuroblastoma. PEDIATRIC BLOOD & CANCER, v. 67, n. 11, p. 3-pg., 2020-08-03. (13/08028-1, 18/05961-2, 18/21047-9)

CORRADI, CAMILA; VILAR, JULIANA B.; BUZATTO, VANESSA C.; DE SOUZA, TIAGO A.; CASTRO, LIGIA P.; MUNFORD, VERIDIANA; DE VECCHI, RODRIGO; GALANTE, PEDRO A. F.; ORPINELLI, FERNANDA; MILLER, THIAGO L. A.; et al. Mutational signatures and increased retrotransposon insertions in xeroderma pigmentosum variant skin tumors. Carcinogenesis, v. 44, n. 6, p. 14-pg., 2023-05-17. (13/08028-1, 19/19435-3, 17/24418-5)

VILLELA, DARINE; RAMALHO, RODRIGO F.; SILVA, ADERBAL R. T.; BRENTANI, HELENA; SUEMOTO, CLAUDIA K.; PASQUALUCCI, CARLOS AUGUSTO; GRINBERG, LEA T.; KREPISCHI, ANA C. V.; ROSENBERG, CARLA. Differential DNA Methylation of MicroRNA Genes in Temporal Cortex from Alzheimer's Disease Individuals. NEURAL PLASTICITY, v. 2016, p. 10-pg., 2016-01-01. (13/08028-1, 09/00898-1, 10/15503-0)

KIMURA, LILIAN; NUNES, KELLY; INES MACEDO-SOUZA, LUCIA; ROCHA, JORGE; MEYER, DIOGO; MINGRONI-NETTO, REGINA CELIA. Inferring paternal history of rural African-derived Brazilian populations from Y chromosomes. AMERICAN JOURNAL OF HUMAN BIOLOGY, v. 29, n. 2, p. 11-pg., 2017-03-01. (98/14254-2, 12/18010-0, 13/08028-1, 12/09950-9)

FONSECA, MATHEUS DE CASTRO; DE OLIVEIRA, JULIANA FERREIRA; SILVA ARAUJO, BRUNO HENRIQUE; CANATELI, CAMILA; VITAL DO PRADO, PAULA FAVORETTI; AMORIM NETO, DIONISIO PEDRO; BOSQUE, BEATRIZ PELEGRINI; RODRIGUES, PAULLA VIEIRA; PEREIRA DE GODOY, JOAO VITOR; TOSTES, KATIANE; et al. Molecular and cellular basis of hyperassembly and protein aggregation driven by a rare pathogenic mutation in DDX3X. ISCIENCE, v. 24, n. 8, AUG 20 2021. (18/20014-0, 19/24511-0, 13/08028-1)

PIRES, LUCAS VIEIRA LACERDA; BORDIM, RENATA DE ALMEIDA; MACIEL, MARIA BEATRIZ RABELO; TANAKA, ANA CRISTINA SAYURI; YAMAMOTO, GUILHERME LOPES; HONJO, RACHEL SAYURI; KIM, CHONG AE; BERTOLA, DEBORA ROMEO. Atypical, severe hypertrophic cardiomyopathy in a newborn presenting Noonan syndrome harboring a recurrent heterozygous MRAS variant. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. 185, n. 10, p. 3099-3103, OCT 2021. (13/08028-1)

BERTHOLIM-NASCIBEN, LUCIANA; SCLIAR, MARILIA O.; DEBORTOLI, GUILHERME; THIRUVAHINDRAPURAM, BHOOMA; SCHERER, STEPHEN W.; DUARTE, YEDA A. O.; ZATZ, MAYANA; SUAREZ-KURTZ, GUILHERME; PARRA, ESTEBAN J.; NASLAVSKY, MICHEL S.. Characterization of pharmacogenomic variants in a Brazilian admixed cohort of elderly individuals based on whole-genome sequencing data. FRONTIERS IN PHARMACOLOGY, v. 14, p. 11-pg., 2023-05-10. (13/08028-1, 14/50649-6, 14/50931-3)

FERREIRA, RAIANE OLIVEIRA; GRANHA, ISABELA; FERREIRA, RODOLFO SANCHES; BUENO, HELOISA DE SIQUEIRA; OKAMOTO, OSWALDO KEITH; KAID, CAROLINI; ZATZ, MAYANA. Effect of Serial Systemic and Intratumoral Injections of Oncolytic ZIKV(BR) in Mice Bearing Embryonal CNS Tumors. Viruses-Basel, v. 13, n. 10, OCT 2021. (13/08028-1, 19/27784-8, 20/14109-8, 18/16213-7)

RAEISOSSADATI, REZA; FERRARI, MERARI F. R.. Mitochondria-ER Tethering in Neurodegenerative Diseases. Cellular and Molecular Neurobiology, v. 42, n. 4, p. 14-pg., 2020-11-16. (13/08028-1, 18/07592-4, 19/01290-9)

ANDRADE, PAMELA V.; SANTOS, JOILSON M.; TEIXEIRA, ANNE C. B.; SOGARI, VANESSA F.; ALMEIDA, MICHELLE S.; CALLEGARI, FABIANO M.; KREPISCHI, ANA C. V.; OLIVEIRA, ACARY S. B.; VAINZOF, MARIZ; SILVA, HELGA C. A.. Rhabdomyosarcoma Associated with Core Myopathy/Malignant Hyperthermia: Combined Effect of Germline Variants in RYR1 and ASPSCR1 May Play a Role. GENES, v. 14, n. 7, p. 10-pg., 2023-07-01. (13/08028-1)

LARA CARVALHO, LAURA MACHADO; PINTO, CARLA FRANCHI; SCLIAR, MARILIA DE OLIVEIRA; OTTO, PAULO A.; VICTORINO KREPISCHI, ANA CRISTINA; ROSENBERG, CARLA. SCAF4-related syndromic intellectual disability. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. N/A, p. 5-pg., 2022-11-05. (13/08028-1, 18/08486-3)

BERTOLA, DEBORA; BUSCARILLI, MICHELLE; STABLEY, DEBORAH L.; BAKER, LAURA; DOYLE, DANIEL; BARTHOLOMEW, DENNIS W.; SOL-CHURCH, KATIA; GRIPP, KAREN W.. Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. 173, n. 5, p. 1309-1318, MAY 2017. (13/08028-1)

ALVIZI, LUCAS; KE, XIAYI; BRITO, LUCIANO ABREU; SESELGYTE, RIMANTE; MOORE, GUDRUN E.; STANIER, PHILIP; PASSOS-BUENO, MARIA RITA. Differential methylation is associated with non-syndromic cleft lip and palate and contributes to penetrance effects. SCIENTIFIC REPORTS, v. 7, MAY 26 2017. (13/08028-1)

VILLELA, DARINE; SUEMOTO, CLAUDIA K.; PASQUALUCCI, CARLOS A.; GRINBERG, LEA T.; ROSENBERG, CARLA. Do Copy Number Changes in CACNA2D2, CACNA2D3, and CACNA1D Constitute a Predisposing Risk Factor for Alzheimer's Disease?. FRONTIERS IN GENETICS, v. 7, JUN 14 2016. (09/00898-1, 10/15503-0, 13/08028-1)

MUNFORD, V.; CASTRO, L. P.; SOUTO, R.; LERNER, L. K.; VILAR, J. B.; QUAYLE, C.; ASIF, H.; SCHUCH, A. P.; DE SOUZA, T. A.; IENNE, S.; et al. A genetic cluster of patients with variant xeroderma pigmentosum with two different founder mutations. British Journal of Dermatology, v. 176, n. 5, p. 1270-1278, MAY 2017. (14/15982-6, 13/08028-1)

SCHUCH, ANDRE PASSAGLIA; MORENO, NATALIA CESTARI; SCHUCH, NATIELEN JACQUES; MARTINS MENCK, CARLOS FREDERICO; MACHADO GARCIA, CAMILA CARRIAO. Sunlight damage to cellular DNA: Focus on oxidatively generated lesions. Free Radical Biology and Medicine, v. 107, p. 110-124, JUN 2017. (14/15982-6, 13/08028-1)

DE OLIVEIRA, JULIANA FERREIRA; VITAL DO PRADO, PAULA FAVORETTI; DA COSTA, SILVIA SOUZA; SFORCA, MAURICIO LUIS; CANATELI, CAMILA; RANZANI, AMERICO TAVARES; MASCHIETTO, MARIANA; LOPES DE OLIVEIRA, PAULO SERGIO; OTTO, PAULO A.; KLEVIT, RACHEL E.; et al. Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability. Nature Chemical Biology, v. 15, n. 1, p. 62+, JAN 2019. (12/50981-5, 13/08028-1, 15/06281-7)

PEREIRA, LARISSA VILELA; BENTO, RICARDO FERREIRA; CRUZ, DAYANE B.; MARCHI, CLAUDIA; SALOMONE, RAQUEL; OITICICCA, JEANNE; COSTA, MARCIO PAULINO; HADDAD, LUCIANA A.; MINGRONI-NETTO, REGINA CELIA; ZABEU ROSSI COSTA, HELOISA JULIANA. Stem Cells from Human Exfoliated Deciduous Teeth (SHED) Differentiate in vivo and Promote Facial Nerve Regeneration. CELL TRANSPLANTATION, v. 28, n. 1, p. 55-64, JAN 2019. (14/18764-0, 13/08028-1)

MELO, KARLA P.; SILVA, CAROLLINY M.; ALMEIDA, MICHAEL F.; CHAVES, RODRIGO S.; MARCOURAKIS, TANIA; CARDOSO, SANDRA M.; DEMASI, MARILENE; NETTO, LUIS E. S.; FERRARI, MERARI F. R.. Mild Exercise Differently Affects Proteostasis and Oxidative Stress on Motor Areas During Neurodegeneration: A Comparative Study of Three Treadmill Running Protocols. NEUROTOXICITY RESEARCH, v. 35, n. 2, p. 410-420, FEB 2019. (13/08028-1, 15/18961-2, 11/06434-7, 11/15281-0, 11/15283-2, 17/14273-0, 11/00478-2)

FONTES, MARSHALL I. B.; SANTOS, ANA P.; MOLCK, MIRIAM C.; SIMIONI, MILENA; NASCIMENTO, DIOGO L. L.; ANDRADE, ANA K. M.; ROSENBERG, CARLA; KREPISCHI, ANA C. V.; APPENZELLER, SIMONE; MONLLEO, ISABELLA L.; et al. Genotype-Phenotype Correlation of 16p13.3 Terminal Duplication and 22q13.33 Deletion: Natural History of a Patient and Review of the Literature. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. 170, n. 3, p. 766-772, MAR 2016. (09/00898-1, 12/10071-0, 12/51799-6, 13/08028-1)

ANDRE ISHIY, FELIPE AUGUSTO; FANGANIELLO, ROBERTO DALTO; KOBAYASHI, GERSON SHIGERU; KAGUE, ERIKA; KURIKI, PATRICIA SEMEDO; PASSOS-BUENO, MARIA RITA. CD105 is regulated by hsa-miR-1287 and its expression is inversely correlated with osteopotential in SHED. BONE, v. 106, p. 112-120, JAN 2018. (13/08028-1)

NONOSE, RENATA WATANABE; LEZIROVITZ, KARINA; BALESTER DE MELLO AURICCHIO, MARIA TERESA; BATISSOCO, ANA CARLA; YAMAMOTO, GUILHERME LOPES; MINGRONI-NETTO, REGINA CELIA. Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects. BMC MEDICAL GENETICS, v. 19, MAY 8 2018. (13/08028-1)

MEHRJOUY, MANA M.; FONSECA, ANA CAROLINA S.; EHMKE, NADJA; PASKULIN, GIORGIO; NOVELLI, ANTONIO; BENEDICENTI, FRANCESCO; MENCARELLI, MARIA ANTONIETTA; RENIERI, ALESSANDRA; BUSA, TIFFANY; MISSIRIAN, CHANTAL; et al. Regulatory variants of FOXG1 in the context of its topological domain organisation. European Journal of Human Genetics, v. 26, n. 2, p. 186-196, FEB 2018. (11/14293-4, 13/08028-1, 13/01146-9)

DE CAIRES, JR., LUIZ CARLOS; GOULART, ERNESTO; MELO, UIRASOUTO; HENRIQUE ARAUJO, BRUNO SILVA; ALVIZI, LUCAS; SCHANOSKI, ALESSANDRA SOARES; DE OLIVEIRA, DANYLLO FELIPE; KOBAYASHI, GERSON SHIGERU; GRIESI-OLIVEIRA, KARINA; MUSSO, CAMILA MANSO; et al. Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells. NATURE COMMUNICATIONS, v. 9, FEB 2 2018. (14/50931-3, 14/03620-2, 13/08028-1)

ARAUJO, BRUNO H. S.; KAID, CAROLINI; DE SOUZA, JANAINA S.; DA SILVA, SERGIO GOMES; GOULART, ERNESTO; CAIRES, LUIZ C. J.; MUSSO, CAMILA M.; TORRES, LAILA B.; FERRASA, ADRIANO; HERAI, ROBERTO; et al. Down Syndrome iPSC-Derived Astrocytes Impair Neuronal Synaptogenesis and the mTOR Pathway In Vitro. Molecular Neurobiology, v. 55, n. 7, p. 5962-5975, JUL 2018. (17/16283-2, 15/14821-1, 14/08049-1, 13/08028-1)

GOMES, LUCIANA R.; VESSONI, ALEXANDRE T.; MENCK, CARLOS F. M.. Microenvironment and autophagy cross-talk: Implications in cancer therapy. PHARMACOLOGICAL RESEARCH, v. 107, p. 300-307, MAY 2016. (14/15982-6, 13/08028-1)

FONSECA, ANA CAROLINA S.; BONALDI, ADRIANO; FONSECA, SIMONE A. S.; OTTO, PAULO A.; KOK, FERNANDO; BAK, MADS; TOMMERUP, NIELS; VIANNA-MORGANTE, ANGELA M.. The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation. MOLECULAR CYTOGENETICS, v. 8, DEC 30 2015. (13/01146-9, 13/08028-1, 11/14293-4)

ALVES, LEANDRO UCELA; ALVAREZ PEREZ, ANA BEATRIZ; ALONSO, LUIS GARCIA; OTTO, PAULO ALBERTO; MINGRONI-NETTO, REGINA CELIA. Novel frameshift variant in gene SALL4 causing Okihiro syndrome. EUROPEAN JOURNAL OF MEDICAL GENETICS, v. 59, n. 2, p. 80-85, FEB 2016. (13/08028-1)

QUINET, ANNABEL; MARTINS, DAVI JARDIM; VESSONI, ALEXANDRE TEIXEIRA; BIARD, DENIS; SARASIN, ALAIN; STARY, ANNE; MARTINS MENCK, CARLOS FREDERICO. Translesion synthesis mechanisms depend on the nature of DNA damage in UV-irradiated human cells. Nucleic Acids Research, v. 44, n. 12, p. 5717-5731, JUL 8 2016. (14/15982-6, 13/08028-1)

DOS SANTOS, ALEXSANDRO; CAMPAGNARI, FRANCINE; VICTORINO KREPISCHI, ANA CRISTINA; RIBEIRO CAMARA, MARIA DE LOURDES; DE ARRUDA BRASIL, RITA DE CASSIA E.; VIEIRA, LIGIA; VIANNA-MORGANTE, ANGELA M.; OTTO, PAULO A.; PEARSON, PETER L.; ROSENBERG, CARLA. Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion. Chromosome Research, v. 26, n. 3, p. 191-198, SEP 2018. (12/50981-5, 13/08028-1)

GOMES, JULIANA P.; COATTI, GIULIANA C.; VALADARES, MARCOS C.; ASSONI, AMANDA F.; PELATTI, MAYRA V.; SECCO, MARIANE; ZATZ, MAYANA. Human Adipose-Derived CD146(+) Stem Cells Increase Life Span of a Muscular Dystrophy Mouse Model More Efficiently than Mesenchymal Stromal Cells. DNA AND CELL BIOLOGY, v. 37, n. 9, p. 798-804, SEP 2018. (13/08028-1)

MELO, UIRA SOUTO; LEITE, FELIPE DE SOUZA; COSTA, SILVIA; ROSENBERG, CARLA; ZATZ, MAYANA. A fast method to reprogram and CRISPR/Cas9 gene editing from erythroblasts. STEM CELL RESEARCH, v. 31, p. 52-54, AUG 2018. (16/22318-0, 13/08028-1, 16/14517-3)

DA SILVA MONTENEGRO, EDUARDA MORGANA; COSTA, CLAUDIA SAMOGY; CAMPOS, GABRIELE; SCLIAR, MARILIA; DE ALMEIDA, TATIANA FERREIRA; ZACHI, ELAINE CRISTINA; WAHYS SILVA, ISABELA MAYA; CHAN, ADA J. S.; ZARREI, MEHDI; LOURENCO, V, NAILA C.; et al. Meta-Analyses Support Previous and Novel Autism Candidate Genes: Outcomes of an Unexplored Brazilian Cohort. Autism Research, v. 13, n. 2, p. 199-206, FEB 2020. (17/05824-2, 13/08028-1)

GODOY, JULIANA A. P.; PAIVA, RAQUEL M. A.; SOUZA, ALINE M.; KONDO, ANDREA T.; KUTNER, JOSE M.; OKAMOTO, OSWALDO K.. Clinical Translation of Mesenchymal Stromal Cell Therapy for Graft Versus Host Disease. FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY, v. 7, NOV 21 2019. (13/08028-1)

GUO, LONG; BERTOLA, DEBORA ROMEO; TAKANOHASHI, ASAKO; SAITO, ASUKA; SEGAWA, YUKO; YOKOTA, TAKANORI; ISHIBASHI, SATORU; NISHIDA, YOICHIRO; YAMAMOTO, GUILHERME LOPES; DA SILVA FRANCO, JOSE FRANCISCO; et al. Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation. American Journal of Human Genetics, v. 104, n. 5, p. 925-935, MAY 2 2019. (15/21783-9, 13/08028-1)

ALVES, LEANDRO U.; SANTOS, SILVANA; MUSSO, CAMILA M.; EZQUINA, SUZANA A. M.; OPITZ, JOHN M.; KOK, FERNANDO; OTTO, PAULO A.; MINGRONI-NETTO, REGINA C.. Santos syndrome is caused by mutation in the WNT7A gene. JOURNAL OF HUMAN GENETICS, v. 62, n. 12, p. 1073-1078, DEC 2017. (13/08028-1)

MARTINS-BACH, AUREA B.; MALHEIROS, JACKELINE; MATOT, BEATRICE; MARTINS, POLIANA C. M.; ALMEIDA, CAMILA F.; CALDEIRA, WALDIR; RIBEIRO, ALBERTO F.; DE SOUSA, PAULO LOUREIRO; AZZABOU, NOURA; TANNSUS, ALBERTO; et al. Quantitative T2 Combined with Texture Analysis of Nuclear Magnetic Resonance Images Identify Different Degrees of Muscle Involvement in Three Mouse Models of Muscle Dystrophy: mdx, Large(myd) and mdx/Large(myd). PLoS One, v. 10, n. 2, FEB 24 2015. (98/14254-2, 13/08028-1)

VIEIRA, NATASSIA M.; GUO, LING T.; ESTRELA, ELICIA; KUNKEL, LOUIS M.; ZATZ, MAYANA; SHELTON, G. DIANE. Muscular dystrophy in a family of Labrador Retrievers with no muscle dystrophin and a mild phenotype. Neuromuscular Disorders, v. 25, n. 5, p. 363-370, MAY 2015. (13/08028-1)

ZATZ, M.; VIEIRA, N. M.; ZUCCONI, E.; PELATTI, M.; GOMES, J.; VAINZOF, M.; MARTINS-BACH, A. B.; GARCIA OTADUY, M. C.; BENTO DOS SANTOS, G.; AMARO, JR., E.; et al. A normal life without muscle dystrophin. Neuromuscular Disorders, v. 25, n. 5, p. 371-374, MAY 2015. (13/08028-1, 08/57899-7)

VIEIRA, NATASSIA M.; ELVERS, INGEGERD; ALEXANDER, MATTHEW S.; MOREIRA, YURI B.; ERAN, ALAL; GOMES, JULIANA P.; MARSHALL, JAMIE L.; KARLSSON, ELINOR K.; VERJOVSKI-ALMEIDA, SERGIO; LINDBLAD-TOH, KERSTIN; et al. Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype. Cell, v. 163, n. 5, p. 1204-1213, NOV 19 2015. (13/08028-1)

BRITO, LUCIANO ABREU; YAMAMOTO, GUILHERME LOPES; MELO, SORAIA; MALCHER, CAROLINA; FERREIRA, SIMONE GOMES; FIGUEIREDO, JOANA; ALVIZI, LUCAS; KOBAYASHI, GERSON SHIGERU; NASLAVSKY, MICHEL SATYA; ALONSO, NIVALDO; et al. Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft Palate. Human mutation, v. 36, n. 11, p. 1029-1033, NOV 2015. (13/08028-1)

ALTMUELLER, FRANZISKA; LISSEWSKI, CHRISTINA; BERTOLA, DEBORA; FLEX, ELISABETTA; STARK, ZORNITZA; SPRANGER, STEPHANIE; BAYNAM, GARETH; BUSCARILLI, MICHELLE; DYACK, SARAH; GILLIS, JANE; et al. Genotype and phenotype spectrum of NRAS germline variants. European Journal of Human Genetics, v. 25, n. 7, p. 823-831, JUN 2017. (13/08028-1, 11/17299-3)

HOMMA, THAIS K.; KREPISCHI, ANA C. V.; FURUYA, TATIANE K.; HONJO, RACHEL S.; MALAQUIAS, ALEXSANDRA C.; BERTOLA, DEBORA R.; COSTA, SILVIA S.; CANTON, ANA P.; ROELA, ROSIMEIRE A.; FREIRE, BRUNA L.; et al. Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause. Hormone Research in Paediatrics, v. 89, n. 1, p. 13-21, 2018. (15/26980-7, 09/00898-1, 13/03236-5, 13/08028-1)

WHITE, JANSON J.; MAZZEU, JULIANA F.; COBAN-AKDEMIR, ZEYNEP; BAYRAM, YAVUZ; BAHRAMBEIGI, VAHID; HOISCHEN, ALEXANDER; VAN BON, BREGJE W. M.; GEZDIRICI, ALPER; GULEC, ELIF YILMAZ; RAMOND, FRANCIS; et al. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. American Journal of Human Genetics, v. 102, n. 1, p. 27-43, JAN 4 2018. (13/08028-1)

LEITE NOBREGA, JULIA CRISTINA; MEDEIROS, JULIANA BARBOSA; DE MELO SANTOS, TACILA THAMIRES; VIEIRA ALVES, SAIONARA ACUCENA; GOMES DA SILVA FREITAS, JAVANNA LACERDA; SILVA, JAIZA M. M.; MARIZ SIMOES, RAISA FERNANDES; BRITO, ALLISSON DE LIMA; WELLER, MATHIAS; DE FERREIRA SANTOS, JAIR LICIO; et al. Socioeconomic Factors and Health Status Disparities Associated with Difficulty in ADLs and IADLs among Long-Lived Populations in Brazil: A Cross-Sectional Study. INQUIRY-THE JOURNAL OF HEALTH CARE ORGANIZATION PROVISION AND FINANCING, v. 58, p. 11-pg., 2021-04-01. (14/50931-3, 13/08028-1, 09/53778-3)

CASTELLI, ERICK C.; DE CASTRO, V, MATEUS; NASLAVSKY, MICHEL S.; SCLIAR, MARILIA O.; SILVA, NAYANE S. B.; ANDRADE, HELOISA S.; SOUZA, ANDREIA S.; PEREIRA, RAPHAELA N.; CASTRO, CAMILA F. B.; MENDES-JUNIOR, CELSO T.; et al. MHC Variants Associated With Symptomatic Versus Asymptomatic SARS-CoV-2 Infection in Highly Exposed Individuals. FRONTIERS IN IMMUNOLOGY, v. 12, SEP 28 2021. (13/08028-1, 19/19998-8, 20/09702-1, 17/19223-0, 14/50931-3)

CARVALHO, L. M. L.; DA COSTA, S. S.; CAMPAGNARI, F.; KAUFMAN, A.; BERTOLA, D. R.; DA SILVA, I. T.; KREPISCHI, V, A. C.; KOIFFMANN, C. P.; ROSENBERG, C.. Two novel pathogenic variants in MED13L: one familial and one isolated case. JOURNAL OF INTELLECTUAL DISABILITY RESEARCH, v. 65, n. 12, OCT 2021. (18/08486-3, 13/08028-1, 12/50981-5)

PING HSIA, GABRIELLA SHIH; ESPOSITO, JOYCE; DA ROCHA, LETICIA ALVES; GUIMARAES RAMOS, SOFIA LIGIA; OKAMOTO, OSWALDO KEITH. Clinical Application of Human Induced Pluripotent Stem Cell-Derived Organoids as an Alternative to Organ Transplantation. STEM CELLS INTERNATIONAL, v. 2021, FEB 24 2021. (14/50931-3, 13/08028-1)

DA SILVA, RODRIGO SALAZAR; GOES DANTAS, VITOR LIMA; ALVES, LEANDRO UCELA; BATISSOCO, ANA CARLA; OITICICA, JEANNE; LAWRENCE, ELIZABETH A.; KAWAFI, ABDELWAHAB; YANG, YUSHI; NICASTRO, FERNANDA STAVALE; NOVAES, BEATRIZ CAIUBY; et al. NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss. Human Molecular Genetics, v. 29, n. 22, p. 3691-3705, NOV 15 2020. (13/08028-1)

F. ALMEIDA, CAMILA; BITOUN, MARC; VAINZOF, MARIZ. Satellite cells deficiency and defective regeneration in dynamin 2-related centronuclear myopathy. FASEB JOURNAL, v. 35, n. 4, APR 2021. (17/07376-7, 13/08028-1, 15/18914-4)

VILLELA, DARINE; DE BARROS, JULIANA SOBRAL; DA COSTA, SILVIA SOUZA; AGUIAR, TALITA F. M.; CAMPAGNARI, FRANCINE; VIANNA-MORGANTE, ANGELA M.; KREPISCHI, ANA C. V.; ROSENBERG, CARLA. Detection of mosaicism for segmental and whole chromosome imbalances by targeted sequencing. ANNALS OF HUMAN GENETICS, v. 85, n. 1, AUG 2020. (16/04785-0, 13/08028-1, 14/17132-0)

PALMEIRA, ONDINA; MATOS, LARISSA R. B.; NASLAVSKY, MICHEL S.; BUENO, HELOISA M. S.; SOLER, JULIA P.; SETUBAL, JOAO C.; ZATZ, MAYANA. Longitudinal 16S rRNA gut microbiota data of infant triplets show partial susceptibility to host genetics. ISCIENCE, v. 25, n. 3, p. 19-pg., 2022-03-18. (14/50931-3, 13/08028-1)

MARTINS, DAVI J.; TIRMAN, STEPHANIE; QUINET, ANNABEL; MENCK, CARLOS F. M.. Detection of Post-Replicative Gaps Accumulation and Repair in Human Cells using the DNA Fiber Assay. JOVE-JOURNAL OF VISUALIZED EXPERIMENTS, v. N/A, n. 180, p. 14-pg., 2022-02-01. (17/05680-0, 13/08028-1, 19/19435-3)

MACHADO CANTON, ANA PINHEIRO; VICTORINO KREPISCHI, ANA CRISTINA; MONTENEGRO, LUCIANA RIBEIRO; COSTA, SILVIA; ROSENBERG, CARLA; STEUNOU, VIRGINIE; SOBRIER, MARIE-LAURE; SANTANA, LUCAS; HONJO, RACHEL SAYURI; KIM, CHONG AE; et al. Insights from the genetic characterization of central precocious puberty associated with multiple anomalies. Human Reproduction, v. 36, n. 2, p. 506-518, FEB 2021. (13/08028-1, 18/03198-0)

HENRIQUE, ALAN M.; GIANETTI, NATHALIA G.; FERRARI, MERARI F. R.. Parkin is downregulated among autophagy-related proteins prior to hyperphosphorylation of Tau in TS65DN mice. Biochemical and Biophysical Research Communications, v. 561, p. 59-64, JUL 5 2021. (13/08028-1, 18/11946-6, 18/07592-4)

GHIROTTO, BRUNO; OLIVEIRA, DANYLLO F.; CIPELLI, MARCELLA; BASSO, PAULO J.; LIMA, JEAN; BREDA, CRISTIANE N. S.; RIBEIRO, HENRIQUE C.; SILVA, CAMILLE C. C.; SERTIE, ANDREA L.; OLIVEIRA, ANTONIO EDSON R.; et al. MS-Driven Metabolic Alterations Are Recapitulated in iPSC-Derived Astrocytes. ANNALS OF NEUROLOGY, v. 91, n. 5, p. 18-pg., 2022-03-17. (17/05264-7, 18/23460-0, 13/08028-1, 20/06970-5, 13/07937-8)

MELO, THAIANY Q.; PALMA, FLAVIO R.; GOMES, FERNANDO; NETTO, LUIS E. S.; FERRARI, MERARI F. R.. Absence of Gem1 (mammalian Miro/Rhot) mitigates alpha-synuclein toxicity in a yeast model of Parkinson's disease. Molecular and Cellular Neuroscience, v. 122, p. 9-pg., 2022-09-01. (13/08028-1, 11/06434-7, 15/18961-2, 18/07592-4)

DE CASTRO, MATEUS, V; SILVA, MONIZE V. R.; SOARES, FLAVIA B.; CORIA, VIVIAN R.; NASLAVSKY, MICHEL S.; SCLIAR, MARILIA O.; CASTELLI, ERICK C.; DE OLIVEIRA, JAMILE R.; SASAHARA, GREYCE L.; SANTOS, KEITY S.; et al. Follow-up of young adult monozygotic twins after simultaneous critical coronavirus disease 2019: A case report. FRONTIERS IN MEDICINE, v. 9, p. 8-pg., 2022-09-29. (20/09702-1, 13/08028-1, 14/50890-5)

KOBAYASHI, GERSON S.; VIEIRA-SILVA, GLEICIELE A.; VARELLA-BRANCO, ELISA; MOREIRA, DANIELLE P.; KITAJIMA, JOAO PAULO F. W.; HEMZA, CLAUDIA R. M. L.; MINGRONI-NETTO, REGINA C.; LOJUDICE, FERNANDO H.; OITICICA, JEANNE; BENTO, RICARDO F.; et al. Generation of four induced pluripotent stem cells lines from PBMC of the DFNA58 family members: Two hearing-impaired duplication carriers (USPi006-A e USPi007-A) and two normal-hearing noncarriers (USPi004-A and USPi005-A). STEM CELL RESEARCH, v. 71, p. 5-pg., 2023-09-01. (13/08028-1, 18/03433-9, 14/13071-6)

RIBEIRO, ALINE LOPES; KAID, CAROLINI; SILVA, PATRICIA B. G.; CORTEZ, BEATRIZ A.; OKAMOTO, OSWALDO KEITH. Inhibition of Lysyl Oxidases Impairs Migration and Angiogenic Properties of Tumor-Associated Pericytes. STEM CELLS INTERNATIONAL, v. 2017, p. 10-pg., 2017-01-01. (13/08028-1)

MALCHER, CAROLINA; YAMAMOTO, GUILHERME L.; BURNHAM, PHILIP; EZQUINA, SUZANA A. M.; LOURENCO, NAILA C., V; BALKASSMI, SAHILLA; MARCO ANTONIO, DAVID S.; HSIA, GABRIELLA S. P.; GOLLOP, THOMAZ; PAVANELLO, RITA C.; et al. Development of a comprehensive noninvasive prenatal test. GENETICS AND MOLECULAR BIOLOGY, v. 41, n. 3, p. 10-pg., 2018-07-01. (13/08028-1, 15/11998-8, 13/14996-0)

CERONI, JOSE R. M.; YAMAMOTO, GUILHERME L.; HONJO, RACHEL S.; KIM, CHONG A.; PASSOS-BUENO, MARIA R.; BERTOLA, DEBORA R.. Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?. GENETICS AND MOLECULAR BIOLOGY, v. 41, n. 1, p. 7-pg., 2018-01-01. (13/08028-1)

NUNES, KELLY; LEMES, RENAN B.; KIMURA, LILIAN; CARNAVALLI, JULIANA E. P.; MINGRONI-NETTO, REGINA C.; OTTO, PAULO A.; MEYER, DIOGO. Runs of homozygosity and admixture dynamics in the African-derived Brazilian quilombo populations. AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY, v. 168, p. 2-pg., 2019-03-01. (13/08028-1, 12/18010-0)

CAMPOS, GABRIELE DA SILVA; SAMOGY COSTA, CLAUDIA ISMANIA; TING WANG, JAQUELINE YU; CALEGARI DE TOLEDO, VICTOR HUGO; DE CERVANTES, SARAH LEVI; FERRAZ DELGADO, ANA LAURA; FILIPPO, ANA LUIZA; DE SANCTIS GIRARDI, ANA CRISTINA; BRENTANI, HELENA; PASSOS-BUENO, MARIA RITA. THE GENETIC ARCHITECTURE OF AUTISM SPECTRUM DISORDER IN ADMIXTURED BRAZILIAN FAMILIES. European Neuropsychopharmacology, v. 87, p. 1-pg., 2024-10-16. (23/01887-0, 13/08028-1)

ANA CARLA BATISSOCO; DAYANE BERNARDINO CRUZ; THIAGO GERONIMO PIRES ALEGRIA; GERSON KOBAYASHI; JEANNE OITICICA; LUIS EDUARDO SOARES NETTO; MARIA RITA PASSOS-BUENO; LUCIANA AMARAL HADDAD; REGINA CÉLIA MINGRONI NETTO. GJB2 c.35del variant up-regulates GJA1 gene expression and affects differentiation of human stem cells. GENETICS AND MOLECULAR BIOLOGY, v. 47, n. 2, 2024-04-15. (13/08028-1)

OLIVEIRA, D.; ASSONI, A. F.; ALVES, L. M.; SAKUGAWA, A.; MELO, U. S.; TELES ESILVA, A. L.; SERTIE, A. L.; CAIRES, L. C.; GOULART, E.; GHIROTTO, B.; et al. ALS-associated VRK1 R321C mutation causes proteostatic imbalance and mitochondrial defects in iPSC-derived motor neurons. Neurobiology of Disease, v. 198, p. 8-pg., 2024-05-31. (13/08028-1, 21/05194-4)

DUFNER-ALMEIDA, LUIZ GUSTAVO; CARDOZO, LAIS F. M.; SCHWIND, MARIANA R.; CARVALHO, DANIELLY; ALMEIDA, JULIANA PAULA G.; CAPPELLANO, ANDREA MARIA; ALEGRIA, THIAGO G. P.; NANHOE, SANTOESHA; NELLIST, MARK; PASSOS-BUENO, MARIA RITA; et al. Molecular and Functional Assessment of TSC1 and TSC2 in Individuals with Tuberous Sclerosis Complex. GENES, v. 15, n. 11, p. 23-pg., 2024-11-01. (17/06100-8, 13/08028-1, 11/14329-9, 19/10868-4)

TELLES-SILVA, KAYQUE ALVES; PACHECO, LARA; CHIANCA, FERNANDA; KOMATSU, SABRINA; CHIOVATTO, CAROLINE; ZATZ, MAYANA; GOULART, ERNESTO. iPSC-derived cells for whole liver bioengineering. FRONTIERS IN BIOENGINEERING AND BIOTECHNOLOGY, v. 12, p. 8-pg., 2024-02-07. (22/08157-5, 21/11872-5, 19/19380-4, 13/08028-1)

FIGUEIREDO, T.; MENDES, A.; KOBAYASHI, G.; MOREIRA, D.; OLIVEIRA, D.; GOULART, E.; STERN, S.; KOK, F.; MARCHETTO, M.; SANTOS, R.; et al. Inositol monophosphatase 1 (IMPA1) mutation in intellectual disability patients impairs neurogenesis but not gliogenesis. European Journal of Human Genetics, v. 28, n. SUPPL 1, p. 1-pg., 2020-12-01. (13/08028-1, 14/50931-3, 16/09618-5, 17/19877-0)

OLIVEIRA, DANYLLO; VERJOVSKI-ALMEIDA, SERGIO; ZATZ, MAYANA. Phenotypic heterogeneity in amyotrophic lateral sclerosis type 8 and modifying mechanisms of neurodegeneration. NEURAL REGENERATION RESEARCH, v. 16, n. 9, p. 3-pg., 2021-09-01. (13/08028-1, 15/14821-1, 17/16283-2)

BARREIRO, RODRIGO A. S.; DE ALMEIDA, TATIANA F.; GOMES, CATARINA; MONFARDINI, FREDERICO; DE FARIAS, ALLYSSON A.; TUNES, GABRIELA C.; DE SOUZA, GABRIEL M.; DUIM, ETIENNE; DE SA CORREIA, JAQUELINE; COELHO, ANTONIO V. CAMPOS; et al. Assessing the Risk Stratification of Breast Cancer Polygenic Risk Scores in a Brazilian Cohort. JOURNAL OF MOLECULAR DIAGNOSTICS, v. 26, n. 9, p. 7-pg., 2024-08-23. (18/18560-6, 14/50931-3, 13/08028-1, 20/16376-3, 14/50649-6)

MENCK, C. F. M.; GALHARDO, R. S.; QUINET, A.. The accurate bypass of pyrimidine dimers by DNA polymerase eta contributes to ultraviolet-induced mutagenesis. MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS, v. 828, p. 10-pg., 2023-11-18. (21/15170-5, 19/19435-3, 13/08028-1)

ANTUNES, LARISSA NASCIMENTO; DIAS, ALEX MARCEL MOREIRA; SCHIAVO, BEATRIZ CETALLE; MENDES, BEATRIZ C. A.; BERTOLA, DEBORA ROMEO; LEZIROVITZ, KARINA; MINGRONI-NETTO, REGINA CELIA. Genetic heterogeneity in autosomal recessive hearing loss: a survey of Brazilian families. FRONTIERS IN GENETICS, v. 15, p. 11-pg., 2024-10-21. (13/08028-1)

DANGONI, GUSTAVO D.; TEIXEIRA, ANNE CAROLINE B.; DA COSTA, SILVIA S.; SCLIAR, MARILIA O.; CARVALHO, LAURA M. L.; SILVA, LUCIANA N.; NOVAK, ESTELA M.; VINCE, CAROLINA S. C.; MASCHIETTO, MARIANA C.; SUGAYAMA, SOFIA M. M.; et al. Germline mutations in cancer predisposition genes among pediatric patients with cancer and congenital anomalies. Pediatric Research, v. 95, n. 5, p. 10-pg., 2024-01-05. (18/21047-9, 22/03980-5, 13/08028-1, 18/05961-2)

BERTANI-TORRES, WILLIAM; LEZIROVITZ, KARINA; ALENCAR-COUTINHO, DANILLO; PARDONO, ELIETE; DA COSTA, SILVIA SOUZA; ANTUNES, LARISSA DO NASCIMENTO; DE OLIVEIRA, JUDITE; OTTO, PAULO ALBERTO; PINGAULT, VERONIQUE; MINGRONI-NETTO, REGINA CELIA. Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants. AUDIOLOGY RESEARCH, v. 14, n. 1, p. 17-pg., 2024-02-01. (13/08028-1, 18/03433-9, 14/13071-6)

MALVEZZI, JOAO V. M.; MAGALHAES, INGRID H.; COSTA, SILVIA S.; OTTO, PAULO A.; ROSENBERG, CARLA; BERTOLA, DEBORA R.; FERNANDES, WALTER L. M.; VIANNA-MORGANTE, ANGELA M.; KREPISCHI, ANA C. V.. KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability. HUMAN GENOME VARIATION, v. 5, p. 3-pg., 2018-01-01. (13/08028-1)

AGUIAR, T.; RODRIGUES, T.; DOS SANTOS, F. A.; SOBRAL, J.; DA COSTA, S. S.; DA COSTA, C. M. L.; DA CUNHA, I. W.; CYPRIANO, M.; DE TOLEDO, S. R. C.; DE SOUZA, J. E. S.; et al. Genomic Studies in Hepatoblastoma: Insight into Somatic Mutations Using Array-CGH Analysis and Whole-Exome Sequencing. PEDIATRIC BLOOD & CANCER, v. 64, p. 2-pg., 2017-11-01. (13/08028-1, 16/04785-0)

VILLELA, DARINE; SUEMOTO, CLAUDIA K.; LEITE, RENATA; PASQUALUCCI, CARLOS AUGUSTO; GRINBERG, LEA T.; PEARSON, PETER; ROSENBERG, CARLA. Increased DNA Copy Number Variation Mosaicism in Elderly Human Brain. NEURAL PLASTICITY, v. 2018, p. 9-pg., 2018-01-01. (13/08028-1, 14/17132-0)

HSIA, GABRIELLA S. P.; MUSSO, CAMILA M.; ALVIZI, LUCAS; BRITO, LUCIANO A.; KOBAYASHI, GERSON S.; PAVANELLO, RITA C. M.; ZATZ, MAYANA; GARDHAM, ALICE; WAKELING, EMMA; ZECHI-CEIDE, ROSELI M.; et al. Complexity of the 5 ' Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development. FRONTIERS IN GENETICS, v. 9, p. 8-pg., 2018-04-25. (13/08028-1, 15/21781-6)

CERONI, JOSE R. M.; YAMAMOTO, GUILHERME L.; HONJO, RACHEL S.; KIM, CHONG A.; PASSOS-BUENO, MARIA R.; BERTOLA, DEBORA R.. Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?. GENETICS AND MOLECULAR BIOLOGY, v. 41, n. 1, p. 85-91, JAN-MAR 2018. (13/08028-1)

HSIA, GABRIELLA S. P.; MUSSO, CAMILA M.; ALVIZI, LUCAS; BRITO, LUCIANO A.; KOBAYASHI, GERSON S.; PAVANELLO, RITA C. M.; ZATZ, MAYANA; GARDHAM, ALICE; WAKELING, EMMA; ZECHI-CEIDE, ROSELI M.; et al. Complexity of the 5 ` Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development. FRONTIERS IN GENETICS, v. 9, APR 25 2018. (13/08028-1, 15/21781-6)

LEE, CHAE SYNG; FU, HE; BARATANG, NISSAN; ROUSSEAU, JUSTINE; KUMRA, HEENA; SUTTON, V. REID; NICETA, MARCELLO; CIOLFI, ANDREA; YAMAMOTO, GUILHERME; BERTOLA, DEBORA; et al. Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with ``Corner Fractures''. American Journal of Human Genetics, v. 101, n. 5, p. 815-823, NOV 2 2017. (15/21783-9, 13/08028-1)

ROMANELLI TAVARES, VANESSA L.; KAGUE, ERIKA; MUSSO, CAMILA M.; ALEGRIA, THIAGO G. P.; FREITAS, RENATO S.; BERTOLA, DEBORA R.; TWIGG, STEPHEN R. F.; PASSOS-BUENO, MARIA R.. Craniofrontonasal Syndrome Caused by Introduction of a Novel uATG in the 5 ` UTR of EFNB1. MOLECULAR SYNDROMOLOGY, v. 10, n. 1-2, p. 40-47, 2019. (13/08028-1)

RIBEIRO, ALINE LOPES; KAID, CAROLINI; SILVA, PATRICIA B. G.; CORTEZ, BEATRIZ A.; OKAMOTO, OSWALDO KEITH. Inhibition of Lysyl Oxidases Impairs Migration and Angiogenic Properties of Tumor-Associated Pericytes. STEM CELLS INTERNATIONAL, 2017. (13/08028-1)

PIRES, LUCAS VIEIRA LACERDA; BORDIM, RENATA DE ALMEIDA; MACIEL, MARIA BEATRIZ RABELO; TANAKA, ANA CRISTINA SAYURI; YAMAMOTO, GUILHERME LOPES; HONJO, RACHEL SAYURI; KIM, CHONG AE; BERTOLA, DEBORA ROMEO. Atypical, severe hypertrophic cardiomyopathy in a newborn presenting Noonan syndrome harboring a recurrent heterozygous MRAS variant. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, JUN 2021. (13/08028-1)

BERTOLA, DEBORA R.; CASTRO, MATHEUS A. A.; YAMAMOTO, GUILHERME L.; HONJO, RACHEL S.; CERONI, JOSE RICARDO; BUSCARILLI, MICHELE M.; FREITAS, AMANDA B.; MALAQUIAS, ALEXSANDRA C.; PEREIRA, ALEXANDRE C.; JORGE, ALEXANDER A. L.; et al. Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, v. 184, n. 4, SI, p. 896-911, DEC 2020. (11/17299-3, 13/08028-1)

RAEISOSSADATI, REZA; FERRARI, MERARI F. R.. Mitochondria-ER Tethering in Neurodegenerative Diseases. Cellular and Molecular Neurobiology, NOV 2020. (13/08028-1, 18/07592-4, 19/01290-9)

FIGUEIREDO, THALITA; MENDES, ANA P. D.; MOREIRA, DANIELLE P.; GOULART, ERNESTO; OLIVEIRA, DANYLLO; KOBAYASHI, GERSON S.; STERN, SHANI; KOK, FERNANDO; MARCHETTO, MARIA C.; SANTOS, RENATA; et al. Inositol monophosphatase 1 (IMPA1) mutation in intellectual disability patients impairs neurogenesis but not gliogenesis. MOLECULAR PSYCHIATRY, AUG 2020. (19/18469-1, 13/08028-1, 17/19877-0, 14/50931-3, 16/09618-5)

LEITE NOBREGA, JULIA CRISTINA; MEDEIROS, JULIANA BARBOSA; DE MELO SANTOS, TACILA THAMIRES; VIEIRA ALVES, SAIONARA ACUCENA; GOMES DA SILVA FREITAS, JAVANNA LACERDA; SILVA, JAIZA M. M.; MARIZ SIMOES, RAISA FERNANDES; BRITO, ALLISSON DE LIMA; WELLER, MATHIAS; DE FERREIRA SANTOS, JAIR LICIO; et al. ocioeconomic Factors and Health Status Disparities Associated with Difficulty in ADLs and IADLs among Long-Lived Populations in Brazil: A Cross-Sectional Stud. INQUIRY-THE JOURNAL OF HEALTH CARE ORGANIZATION PROVISION AND FINANCING, v. 58, APR 2021. (14/50931-3, 09/53778-3, 05/54947-2, 13/08028-1)

FERNANDES, STEPHANIE A.; ALMEIDA, CAMILA F.; SOUZA, LUCAS S.; LAZAR, MONIZE; ONOFRE-OLIVEIRA, PAULA; YAMAMOTO, GUILHERME L.; NOGUEIRA, LETICIA; TASAKI, LETICIA Y.; CARDOSO, RAFAELA R.; PAVANELLO, RITA C. M.; et al. Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy. Disease Models & Mechanisms, v. 13, n. 2, SI, FEB 2020. (13/08028-1, 15/18130-3)

NASLAVSKY, MICHEL S.; SCLIAR, MARILIA O.; NUNES, KELLY; WANG, JAQUELINE Y. T.; YAMAMOTO, GUILHERME L.; GUIO, HEINNER; TARAZONA-SANTOS, EDUARDO; DUARTE, YEDA A. O.; PASSOS-BUENO, MARIA RITA; MEYER, DIOGO; et al. Biased pathogenic assertions of loss of function variants challenge molecular diagnosis of admixed individuals. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, JUN 2021. (13/08028-1, 14/50649-6, 14/50931-3)

RAJPUROHIT, CHETAN SINGH; KUMAR, VIVEK; CHEFFER, ARQUIMEDES; OLIVEIRA, DANYLLO; ULRICH, HENNING; OKAMOTO, OSWALDO KEITH; ZATZ, MAYANA; ANSARI, UZAIR AHMAD; KHANNA, VINAY KUMAR; PANT, ADITYA BHUSHAN. Mechanistic Insights of Astrocyte-Mediated Hyperactive Autophagy and Loss of Motor Neuron Function in SOD1(L39R)Linked Amyotrophic Lateral Sclerosis. Molecular Neurobiology, JUL 2020. (13/08028-1, 12/50880-4)

PIRES, SARA FERREIRA; TOLEZANO, GIOVANNA CANTINI; DA COSTA, SILVIA SOUZA; KAWAHIRA, RACHEL SAYURI HONJO; KIM, CHONG AE; ROSENBERG, CARLA; TEIXEIRA, ANNE CAROLINE BARBOSA; BERTOLA, DEBORA ROMEO; KREPISCHI, ANA CRISTINA VICTORINO. Expanding the role of SETD5 haploinsufficiency in neurodevelopment and neuroblastoma. PEDIATRIC BLOOD & CANCER, AUG 2020. (18/21047-9, 13/08028-1, 18/05961-2)

STEFFANY LARISSA GALDINO GALISA; PRISCILA LIMA JACOB; ALLYSSON ALLAN DE FARIAS; RENAN BARBOSA LEMES; LEANDRO UCELA ALVES; JÚLIA CRISTINA LEITE NÓBREGA; MAYANA ZATZ; SILVANA SANTOS; MATHIAS WELLER. Haplotypes of single cancer driver genes and their local ancestry in a highly admixed long-lived population of Northeast Brazil. GENETICS AND MOLECULAR BIOLOGY, v. 45, n. 1, 2022-02-02. (13/08028-1)

YEH, ERIKA; ATIQUE, RODRIGO; FANGANIELLO, ROBERTO DALTO; SUNAGA, DANIELE YUMI; ANDRE ISHIY, FELIPE AUGUSTO; PASSOS-BUENO, MARIA RITA. Cell Type-Dependent Nonspecific Fibroblast Growth Factor Signaling in Apert Syndrome. STEM CELLS AND DEVELOPMENT, v. 25, n. 16, p. 1249-1260, AUG 2016. (13/08028-1)

GONCALVES DA SILVA, PATRICIA BENITES; RODINI, CAROLINA OLIVEIRA; KAID, CAROLINI; NAKAHATA, ADRIANA MITI; LEITE PEREIRA, MARCIA CRISTINA; MATUSHITA, HAMILTON; DA COSTA, SILVIA SOUZA; OKAMOTO, OSWALDO KEITH. Establishment of a novel human medulloblastoma cell line characterized by highly aggressive stem-like cells. Cytotechnology, v. 68, n. 4, p. 1545-1560, AUG 2016. (10/52686-5, 13/08028-1)

REILY ROCHA, CLARISSA RIBEIRO; KAJITANI, GUSTAVO SATORU; QUINET, ANNABEL; FORTUNATO, RODRIGO SOARES; MARTINS MENCK, CARLOS FREDERICO. NRF2 and glutathione are key resistance mediators to temozolomide in glioma and melanoma cells. ONCOTARGET, v. 7, n. 30, p. 48081-48092, JUL 26 2016. (14/15982-6, 13/08028-1)

TEIXEIRA SANTOS, MARCIA CRISTINA; GONCALVES SILVA, PATRICIA BENITES; RODINI, CAROLINA OLIVEIRA; FURUKAWA, GABRIELA; MARCO ANTONIO, DAVID SANTOS; ZANOTTO-FILHO, ALFEU; MOREIRA, JOSE C. F.; OKAMOTO, OSWALDO KEITH. Embryonic Stem Cell-Related Protein L1TD1 Is Required for Cell Viability, Neurosphere Formation, and Chemoresistance in Medulloblastoma. STEM CELLS AND DEVELOPMENT, v. 24, n. 22, p. 2700-2708, NOV 15 2015. (11/51588-2, 11/10001-9, 10/52686-5, 13/08028-1, 13/17566-7)

BONALDI, ADRIANO; KASHIWABARA, ANDRE; DE ARAUJO, ERICA S.; PEREIRA, LYGIA V.; PASCHOAL, ALEXANDRE R.; ANDOZIA, MAYRA B.; VILLELA, DARINE; RIVAS, MARIA P.; SUEMOTO, CLAUDIA K.; PASQUALUCCI, CARLOS A.; et al. Mining Novel Candidate Imprinted Genes Using Genome-Wide Methylation Screening and Literature Review. EPIGENOMES, v. 1, n. 2, SEP 2017. (13/07480-8, 09/00898-1, 13/08028-1)

RODRIGUES, TATIANE CRISTINA; FIDALGO, FELIPE; LIMA DA COSTA, CECILIA MARIA; FERREIRA, ELISA NAPOLITANO; DA CUNHA, ISABELA WERNECK; CARRARO, DIRCE MARIA; VICTORINO KREPISCHI, ANA CRISTINA; ROSENBERG, CARLA. Upregulated genes at 2q24 gains as candidate oncogenes in hepatoblastomas. FUTURE ONCOLOGY, v. 10, n. 15, p. 2449-2457, 2014. (06/00054-0, 09/00898-1, 13/08028-1, 11/24007-9)

MORENO, NATALIA CESTARI; MACHADO GARCIA, CAMILA CARRIAO; REILY ROCHA, CLARISSA RIBEIRO; MUNFORD, VERIDIANA; MARTINS MENCK, CARLOS FREDERICO. ATR/Chk1 Pathway is Activated by Oxidative Stress in Response to UVA Light in Human Xeroderma Pigmentosum Variant Cells. Photochemistry and Photobiology, v. 95, n. 1, p. 345-354, JAN 2019. (14/15982-6, 12/16929-6, 13/08028-1)

GUIMARAES MARQUES, MARCIA J.; REYES-GARCIA, SELVIN Z.; MARQUES-CARNEIRO, JOSE E.; LOPES-SILVA, LEONARDO B.; ANDERSEN, MONICA L.; CAVALHEIRO, ESPER A.; SCORZA, FULVIO A.; SCORZA, CARLA A.. Long-term Potentiation Decay and Poor Long-lasting Memory Process in the Wild Rodents Proechimys from Brazil's Amazon Rainforest. FRONTIERS IN BEHAVIORAL NEUROSCIENCE, v. 12, JAN 23 2018. (13/08028-1)

YAGURA, TEITI; SCHUCH, ANDRE PASSAGLIA; MACHADO GARCIA, CAMILA CARRIAO; REILY ROCHA, CLARISSA RIBEIRO; MORENO, NATALIA CESTARI; FRIEDMANN ANGELI, JOSE PEDRO; MENDES, DAVI; SEVERINO, DIVINOMAR; SANCHEZ, ANGELICA BIANCHINI; DI MASCIO, PAOLO; et al. Direct participation of DNA in the formation of singlet oxygen and base damage under UVA irradiation. Free Radical Biology and Medicine, v. 108, p. 86-93, JUL 2017. (14/15982-6, 13/07937-8, 13/08028-1, 12/12663-1)

NASLAVSKY, MICHEL SATYA; YAMAMOTO, GUILHERME LOPES; DE ALMEIDA, TATIANA FERREIRA; EZQUINA, SUZANA A. M.; SUNAGA, DANIELE YUMI; PHO, NAM; BOZOKLIAN, DANIEL; MILKEWITZ SANDBERG, TATIANA ORLI; BRITO, LUCIANO ABREU; LAZAR, MONIZE; et al. Exomic variants of an elderly cohort of Brazilians in the ABraOM database. Human mutation, v. 38, n. 7, p. 751-763, JUL 2017. (11/17428-8, 98/14254-2, 13/08028-1, 08/57899-7)

MOREIRA, DANIELLE P.; GRIESI-OLIVEIRA, KARINA; BOSSOLANI-MARTINS, ANA L.; LOURENCO, NAILA C. V.; TAKAHASHI, VANESSA N. O.; DA ROCHA, KATIA M.; MOREIRA, ELOISA S.; VADASZ, ESTEVAO; CASTRO MEIRA, JOANNA GOES; BERTOLA, DEBORA; et al. Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in Autism Spectrum Disorder Brazilian Individuals with and without Epilepsy. PLoS One, v. 9, n. 9, SEP 25 2014. (13/08028-1, 08/57899-7)

MILLER, EMILY E.; KOBAYASHI, GERSON S.; MUSSO, CAMILA M.; ALLEN, MIRANDA; ISHIY, FELIPE A. A.; DE CAIRES, JR., LUIZ CARLOS; GOULART, ERNESTO; GRIESI-OLIVEIRA, KARINA; ZECHI-CEIDE, ROSELI M.; RICHIERI-COSTA, ANTONIO; et al. EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome. Human Molecular Genetics, v. 26, n. 12, p. 2177-2191, JUN 15 2017. (13/08028-1)

SALGUEIRO BARBONI, MIRELLA TELLES; GOMES MARTINS, CRISTIANE MARIA; NAGY, BALAZS VINCE; TSAI, TINA; DAMICO, FRANCISCO MAX; DA COSTA, MARCELO FERNANDES; PAVANELLO, RITA DE CASSIA M.; VILACA LOURENCO, NAILA CRISTINA; PEREIRADE CERQUEIRA, ANTONIA MARIA; ZATZ, MAYANA; et al. Dystrophin Is Required for Proper Functioning of Luminance and Red-Green Cone Opponent Mechanisms in the Human Retina. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, v. 57, n. 8, p. 3581-3587, JUL 2016. (14/26818-2, 12/51299-3, 12/01115-3, 14/06457-5, 13/08028-1)

KAID, CAROLINI; GOULART, ERNESTO; CAIRES-JUNIOR, LUIZ C.; ARAUJO, BRUNO H. S.; SOARES-SCHANOSKI, ALESSANDRA; BUENO, HELOISA M. S.; TELLES-SILVA, KAYQUE A.; ASTRAY, RENATO M.; ASSONI, AMANDA F.; JUNIOR, ANTONIO F. R.; et al. Zika Virus Selectively Kills Aggressive Human Embryonal CNS Tumor Cells In Vitro and In Vivo. Cancer Research, v. 78, n. 12, p. 3363-3374, JUN 15 2018. (16/09707-8, 17/16283-2, 14/08049-1, 15/14821-1, 13/08028-1)

REILY ROCHA, CLARISSA RIBEIRO; ROCHA, ALEXANDRE REILY; SILVA, MATHEUS MOLINA; GOMES, LUCIANA RODRIGUES; LATANCIA, MARCELA TEATIN; TOMAZ, MARINA ANDRADE; DE SOUZA, IZADORA; SEREGNI MONTEIRO, LINDA KAROLYNNE; MARTINS MENCK, CARLOS FREDERICO. Revealing Temozolomide Resistance Mechanisms via Genome-Wide CRISPR Libraries. CELLS, v. 9, n. 12, DEC 2020. (13/08028-1, 19/19435-3, 19/21745-0, 15/25016-2)

DOS SANTOS CARDOSO, FABRIZIO; DOS SANTOS, JULIO CESAR CLAUDINO; GONZALEZ-LIMA, FRANCISCO; ARAUJO, BRUNO HENRIQUE SILVA; LOPES-MARTINS, RODRIGO ALVARO BRANDAO; GOMES DA SILVA, SERGIO. Effects of Chronic Photobiomodulation with Transcranial Near-Infrared Laser on Brain Metabolomics of Young and Aged Rats. Molecular Neurobiology, v. 58, n. 5, JAN 2021. (13/08028-1, 17/16443-0)

MOOSA, SHAHIDA; YAMAMOTO, GUILHERME L.; GARBES, LUTZ; KEUPP, KATHARINA; BELEZA-MEIRELES, ANA; MORENO, CAROLINA ARAUJO; VALADARES, EUGENIA RIBEIRO; DE SOUSA, SERGIO B.; MAIA, SOFIA; SARAIVA, JORGE; et al. Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta. American Journal of Human Genetics, v. 105, n. 4, p. 836-843, OCT 3 2019. (13/08028-1, 15/22145-6)

GRIESI-OLIVEIRA, K.; FOGO, M. S.; PINTO, B. G. G.; ALVES, A. Y.; SUZUKI, A. M.; MORALES, A. G.; EZQUINA, S.; SOSA, O. J.; SUTTON, G. J.; SUNAGA-FRANZE, D. Y.; et al. Transcriptome of iPSC-derived neuronal cells reveals a module of co-expressed genes consistently associated with autism spectrum disorder. MOLECULAR PSYCHIATRY, v. 26, n. 5, p. 1589-1605, MAY 2021. (13/08028-1, 16/50324-5, 14/10068-4)

KOBAYASHI, GERSON SHIGERU; BRITO, LUCIANO ABREU; MOREIRA, DANIELLE DE PAULA; SUZUKI, ANGELA MAY; PING HSIA, GABRIELLA SHIH; PIMENTEL, LYLYAN FRAGOSO; BARRETO DE PAIVA, ANA PAULA; DIAS, CAROLINA REGOLI; VILACA LOURENCO, NAILA CRISTINA; OLIVEIRA, BEATRIZ ARAUJO; et al. A Novel Saliva RT-LAMP Workflow for Rapid Identification of COVID-19 Cases and Restraining Viral Spread. DIAGNOSTICS, v. 11, n. 8, AUG 2021. (13/08028-1, 20/05949-2)

MARQUES AGUIAR, TALITA FERREIRA; RIVAS, MARIA PRATES; COSTA, SILVIA; MASCHIETTO, MARIANA; RODRIGUES, TATIANE; DE BARROS, JULIANA SOBRAL; BARBOSA, ANNE CAROLINE; VALIERIS, RENAN; FERNANDES, GUSTAVO R.; BERTOLA, DEBORA R.; et al. Insights Into the Somatic Mutation Burden of Hepatoblastomas From Brazilian Patients. FRONTIERS IN ONCOLOGY, v. 10, MAY 5 2020. (13/08028-1, 18/05961-2, 16/04785-0, 17/11212-0, 16/23462-8, 18/21047-9)

DO NASCIMENTO, LARISSA REIS; VIEIRA-SILVA, GLEICIELE ALICE; KITAJIMA, JOAO PAULO FUMIO WHITAKER; BATISSOCO, ANA CARLA; LEZIROVITZ, KARINA. New Insights into the Identity of the DFNA58 Gene. GENES, v. 13, n. 12, p. 28-pg., 2022-12-01. (13/08028-1, 18/03433-9, 14/13071-6)

BURRAGE, LINDSAY C.; REYNOLDS, JOHN J.; BARATANG, NISSAN VIDA; PHILLIPS, JENNIFER B.; WEGNER, JEREMY; MCFARQUHAR, ASHLEY; HIGGS, MARTIN R.; CHRISTIANSEN, AUDREY E.; LANZA, DENISE G.; SEAVITT, JOHN R.; et al. Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. American Journal of Human Genetics, v. 104, n. 3, p. 422-438, MAR 7 2019. (13/08028-1, 15/21783-9)

GOMES, LUCIANA R.; MENCK, CARLOS F. M.; LEANDRO, GIOVANA S.. Autophagy Roles in the Modulation of DNA Repair Pathways. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, v. 18, n. 11, NOV 2017. (14/15982-6, 13/08028-1)

NUNES, BRUNO GHIROTTO; LOURES, FLAVIO VIEIRA; SIQUEIRA BUENO, HELOISA MARIA; CANGUSSU, ERICA BARONI; GOULART, ERNESTO; COATTI, GIULIANA CASTELLO; CALDINI, ELIA GARCIA; CONDINO-NETO, ANTONIO; ZATZ, MAYANA. Immunoglobulin therapy ameliorates the phenotype and increases lifespan in the severely affected dystrophin-utrophin double knockout mice. European Journal of Human Genetics, v. 25, n. 12, p. 1388-1396, DEC 2017. (15/19435-2, 13/08028-1, 14/04783-2)

VILLELA, DARINE; COSTA, SILVIA SOUZA; VIANNA-MORGANTE, ANGELA M.; KREPISCHI, ANA C. V.; ROSENBERG, CARLA. Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting. EUROPEAN JOURNAL OF MEDICAL GENETICS, v. 60, n. 12, p. 667-674, DEC 2017. (14/17132-0, 13/08028-1)

ISHIBA, RENATA; SANTOS, ANDRE LUIS F.; ALMEIDA, CAMILA F.; CAIRES, JR., LUIZ CARLOS; RIBEIRO, JR., ANTONIO F.; AYUB-GUERRIERI, DANIELLE; FERNANDES, STEPHANIE A.; SOUZA, LUCAS S.; VAINZOF, MARIZ. Faster regeneration associated to high expression of Fam65b and Hdac6 in dysferlin-deficient mouse. Journal of Molecular Histology, v. 50, n. 4, p. 375-387, AUG 2019. (13/08028-1)

CARNEIRO, THAISE N. R.; KREPISCHI, ANA C. V.; COSTA, SILVIA S.; DA SILVA, ISRAEL TOJAL; VIANNA-MORGANTE, ANGELA M.; VALIERIS, RENAN; EZQUINA, SUZANA A. M.; BERTOLA, DEBORA R.; OTTO, PAULO A.; ROSENBERG, CARLA. Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases. APPLICATION OF CLINICAL GENETICS, v. 11, p. 93-98, 2018. (12/50981-5, 13/08028-1)

DE SOUZA, DIEGO CLEMENTE; VAHIA DE ABREU, HENRIQUE DE LUCA; DE OLIVEIR, PEDRO VITORIANO; CAPELO, LUCIANE PORTAS; PASSOS-BUENO, MARIA RITA; CATALANI, LUIZ HENRIQUE. A fast degrading PLLA composite with a high content of functionalized octacalcium phosphate mineral phase induces stem cells differentiation. JOURNAL OF THE MECHANICAL BEHAVIOR OF BIOMEDICAL MATERIALS, v. 93, p. 93-104, MAY 2019. (17/22599-2, 11/21442-6, 13/08028-1)

KAGUE, E.; WITTEN, P. E.; SOENENS, M.; CAMPOS, C. L.; LUBIANA, T.; FISHER, S.; HAMMOND, C.; BROWN, K. ROBSON; PASSOS-BUENO, M. R.; HUYSSEUNE, A.. Zebrafish sp7 mutants show tooth cycling independent of attachment, eruption and poor differentiation of teeth. Developmental Biology, v. 435, n. 2, p. 176-184, MAR 15 2018. (13/08028-1)

RAICES, JULIA B.; OTTO, PAULO A.; VIBRANOVSKI, MARIA D.. Haploid selection drives new gene male germline expression. Genome Research, v. 29, n. 7, p. 1115-1122, JUL 2019. (15/20844-4, 13/08028-1, 13/06117-7)

VILLELA, DARINE; MAZZONETTO, PATRICIA C.; MIGLIAVACCA, MICHELE P.; PERRONE, EDUARDO; GUIDA, GUSTAVO; MILANEZI, MARIA FERNANDA G.; JORGE, ALEXANDER A. L.; RIBEIRO-BICUDO, LUCILENE A.; KOK, FERNANDO; CAMPAGNARI, FRANCINE; et al. Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. 185, n. 8, p. 2335-2344, AUG 2021. (13/08028-1, 14/17132-0, 12/50981-5)

SOUZA, LUCAS SANTOS; ALMEIDA, CAMILA FREITAS; YAMAMOTO, GUILHERME LOPES; MINGRONI PAVANELLO, RITA DE CASSIA; GURGEL-GIANNETTI, JULIANA; DA COSTA, SILVIA SOUZA; ANEQUINI, ISABELA PESSA; DO CARMO, SILVANA AMANDA; WANG, JAQUELINE YU TING; SCLIAR, MARILIA DE OLIVEIRA; et al. Manifesting carriers of X-linked myotubular myopathy Genetic modifiers modulating the phenotype. NEUROLOGY-GENETICS, v. 6, n. 5, OCT 2020. (13/08028-1)

LIMA, SHIRLEY O. A.; FARIAS, ALLYSSON A.; ALBINO, VICTOR A.; MARQUES-ALVES, YANNA K.; OLINDA, RICARDO; SANTOS-SILVA, TAIS A.; ALVES, LEANDRO U.; ZATZ, MAYANA; SANTOS, SILVANA. A population-based study of inter-generational attitudes towards consanguineous marriages in north-eastern Brazil. JOURNAL OF BIOSOCIAL SCIENCE, v. 51, n. 5, p. 683-697, SEP 2019. (13/08028-1, 14/50931-3)

ALI, TACCYANNA M.; LINNENKAMP, BIANCA D. W.; YAMAMOTO, GUILHERME L.; HONJO, RACHEL S.; DE MENEZES FILHO, HAMILTON CABRAL; KIM, CHONG AE; BERTOLA, DEBORA R.. The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non-Morrocan ancestry. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, JAN 2022. (13/08028-1)

DE FARIAS, ALLYSSON ALLAN; NUNES, KELLY; LEMES, RENAN BARBOSA; MOURA, RONALD; FERNANDES, GUSTAVO RIBEIRO; MELO, UIRA SOUTO; ZATZ, MAYANA; KOK, FERNANDO; SANTOS, SILVANA. Origin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populations. SCIENTIFIC REPORTS, v. 8, NOV 8 2018. (13/08028-1, 14/50931-3)

MASCHIETTO, MARIANA; RODRIGUES, TATIANE CRISTINA; KASHIWABARA, ANDRE YOSHIAKI; SOUZA DE ARAUJO, ERICA SARA; MARQUES AGUIAR, TALITA FERREIRA; LIMA DA COSTA, CECILIA MARIA; DA CUNHA, ISABELA WERNECK; VASQUES, LUCIANA DOS REIS; CYPRIANO, MONICA; BRENTANI, HELENA; et al. DNA methylation landscape of hepatoblastomas reveals arrest at early stages of liver differentiation and cancer-related alterations. ONCOTARGET, v. 8, n. 58, p. 97871-97889, NOV 17 2017. (15/06281-7, 09/00898-1, 16/04785-0, 13/08028-1, 11/24007-9)

GONCALVES DA SILVA, PATRICIA BENITES; TEIXEIRA DOS SANTOS, MARCIA CRISTINA; RODINI, CAROLINA OLIVEIRA; KAID, CAROLINI; LEITE PEREIRA, MARCIA CRISTINA; FURUKAWA, GABRIELA; GIMENES DA CRUZ, DANIEL SANZIO; GOLDFEDER, MAURICIO BARBUGIANI; REILY ROCHA, CLARISSA RIBEIRO; ROSENBERG, CARLA; et al. High OCT4A levels drive tumorigenicity and metastatic potential of medulloblastoma cells. ONCOTARGET, v. 8, n. 12, p. 19192-19204, 2017. (11/51588-2, 11/05534-8, 11/10001-9, 10/52686-5, 13/02983-1, 13/08028-1, 13/17566-7)

AGUIAR, TALITA FERREIRA; BARBOSA-TEIXEIRA, ANNE C.; COSTA, SILVIA SOUZA; EZQUINA, SUZANA; GIMENEZ, THAMIRIS MAGALHAES; NOVAK, ESTELA; CRISTOFANI, LILIAN MARIA; ROSENBERG, CARLA; ODONE FILHO, VICENTE; VICTORINO KREPISCHI, ANA CRISTINA. Atypical presentation of a germline APC mutation in a child with supratentorial primitive neuroectodermal tumor. PEDIATRIC BLOOD & CANCER, v. 66, n. 4, APR 2019. (13/08028-1)

MOREIRA DIAS, ALEX MARCEL; LEZIROVITZ, KARINA; NICASTRO, FERNANDA STAVALE; MENDES, BEATRIZ C. A.; MINGRONI-NETTO, REGINA CELIA. Further evidence for loss-of-function mutations in the CEACAM16 gene causing nonsyndromic autosomal recessive hearing loss in humans. JOURNAL OF HUMAN GENETICS, v. 64, n. 3, p. 257-260, MAR 2019. (13/08028-1)

GOMES, JULIANA P. A.; ASSONI, AMANDA F.; PELATTI, MAYRA; COATTI, GIULIANA; OKAMOTO, OSWALDO KEITH; ZATZ, MAYANA. Deepening a Simple Question: Can MSCs Be Used to Treat Cancer?. ANTICANCER RESEARCH, v. 37, n. 9, p. 4747-4758, SEP 2017. (13/08028-1, 08/57899-7)

ASSONI, AMANDA; COATTI, GIULIANA; VALADARES, MARCOS C.; BECCARI, MELINDA; GOMES, JULIANA; PELATTI, MAYRA; MITNE-NETO, MIGUEL; CARVALHO, VALDEMIR M.; ZATZ, MAYANA. Different Donors Mesenchymal Stromal Cells Secretomes Reveal Heterogeneous Profile of Relevance for Therapeutic Use. STEM CELLS AND DEVELOPMENT, v. 26, n. 3, p. 206-214, FEB 1 2017. (13/08028-1)

GRIESI-OLIVEIRA, KARINA; SUZUKI, ANGELA MAY; ALVES, ALINE YASUDA; CINTRA NUNES MAFRA, ANA CAROLINA; YAMAMOTO, GUILHERME LOPES; EZQUINA, SUZANA; MAGALHAES, YULI THAMIRES; FORTI, FABIO LUIS; SERTIE, ANDREA LAURATO; ZACHI, ELAINE CRISTINA; et al. Actin cytoskeleton dynamics in stem cells from autistic individuals. SCIENTIFIC REPORTS, v. 8, JUL 24 2018. (13/08028-1)

CALYJUR, PRISCILA CLARA; ALMEIDA, CAMILA DE FREITAS; AYUB-GUERRIERI, DANIELLE; RIBEIRO JUNIOR, ANTONIO FERNANDO; FERNANDES, STEPHANIE DE ALCANTARA; ISHIBA, RENATA; FERNANDES DOS SANTOS, ANDRE LUIS; ONOFRE-OLIVEIRA, PAULA; VAINZOF, MARIZ. The mdx Mutation in the 129/Sv Background Results in a Milder Phenotype: Transcriptome Comparative Analysis Searching for the Protective Factors. PLoS One, v. 11, n. 3, MAR 8 2016. (13/08028-1)

ROMANELLI TAVARES, VANESSA L.; ZECHI-CEIDE, ROSELI M.; BERTOLA, DEBORA R.; GORDON, CHRISTOPHER T.; FERREIRA, SIMONE G.; HSIA, GABRIELLA S. P.; YAMAMOTO, GUILHERME L.; EZQUINA, SUZANA A. M.; KOKITSU-NAKATA, NANCY M.; VENDRAMINI-PITTOLI, SIULAN; et al. Targeted Molecular Investigation in Patients within the Clinical Spectrum of Auriculocondylar Syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. 173, n. 4, p. 938-945, APR 2017. (13/08028-1)

SAVASTANO, C. P.; BRITO, L. A.; FARIA, A. C.; SETO-SALVIA, N.; PESKETT, E.; MUSSO, C. M.; ALVIZI, L.; EZQUINA, S. A. M.; JAMES, C.; BEALES, P.; et al. Impact of rare variants in ARHGAP29 to the etiology of oral clefts: role of loss-of-function vs missense variants. Clinical Genetics, v. 91, n. 5, p. 683-689, MAY 2017. (13/08028-1)

GALDINO GALISA, STEFFANY LARISSA; JACOB, PRISCILA LIMA; DE FARIAS, ALLYSSON ALLAN; LEMES, RENAN BARBOSA; ALVES, LEANDRO UCELA; LEITE NOBREGA, JULIA CRISTINA; ZATZ, MAYANA; SANTOS, SILVANA; WELLER, MATHIAS. aplotypes of single cancer driver genes and their local ancestry in a highly admixed long-lived population of Northeast Brazi. GENETICS AND MOLECULAR BIOLOGY, v. 45, n. 1, 2022. (14/50931-3, 13/08028-1)

TELLES-SILVA, KAYQUE ALVES; PACHECO, LARA; KOMATSU, SABRINA; CHIANCA, FERNANDA; CAIRES-JUNIOR, LUIZ CARLOS; ARAUJO, BRUNO HENRIQUE SILVA; GOULART, ERNESTO; ZATZ, MAYANA. pplied Hepatic Bioengineering: Modeling the Human Liver Using Organoid and Liver-on-a-Chip Technologie. FRONTIERS IN BIOENGINEERING AND BIOTECHNOLOGY, v. 10, FEB 14 2022. (19/18469-1, 21/04113-0, 19/19380-4, 17/16283-2, 13/08028-1, 21/04121-3)

SHELTON, G. DIANE; MINOR, KATIE M.; VIEIRA, NATASSIA M.; KUNKEL, LOUIS M.; FRIEDENBERG, STEVEN G.; CULLEN, JONAH N.; GUO, LING T.; ZATZ, MAYANA; MICKELSON, JAMES R.. Tandem duplication within the DMD gene in Labrador retrievers with a mild clinical phenotype. Neuromuscular Disorders, v. 32, n. 10, p. 6-pg., 2022-10-27. (13/08028-1, 14/50931-3, 20/09702-1)

SILVA, JAIZA M. M.; FREITAS, JAVANNA LACERDA GOMES DA SILVA; NOBREGA, JULIA CRISTINA LEITE; MEDEIROS, JULIANA BARBOSA; SIMOES, RAISA FERNANDES MARIZ; OLINDA, RICARDO; SANTOS, JAIR LICIO DE FERREIRA; DUARTE, YEDA APARECIDA DE OLIVEIRA; ZATZ, MAYANA; MATHESON, DAVID; et al. Regional differences regarding the occurrence of falls and associated factors in two populations of Brazilian longevous people. BMC GERIATRICS, v. 22, n. 1, p. 11-pg., 2022-12-02. (14/50931-3, 13/08028-1, 09/53778-3, 05/54947-2)

ROMANELLI TAVARES, VANESSA L.; KAGUE, ERIKA; MUSSO, CAMILA M.; ALEGRIA, THIAGO G. P.; FREITAS, RENATO S.; BERTOLA, DEBORA R.; TWIGG, STEPHEN R. F.; PASSOS-BUENO, MARIA R.. Craniofrontonasal Syndrome Caused by Introduction of a Novel uATG in the 5 ' UTR of EFNB1. MOLECULAR SYNDROMOLOGY, v. 10, n. 1-2, p. 8-pg., 2019-01-01. (13/08028-1)

KAID, CAROLINI; JORDAN, DIONE; DE SIQUEIRA BUENOS, HELOISA MARIA; SILVA ARAUJO, BRUNO HENRIQUE; ASSONI, AMANDA; OKAMOTO, OSWALDO KEITH. miR-367 as a therapeutic target in stem-like cells from embryonal central nervous system tumors. MOLECULAR ONCOLOGY, v. 13, n. 12, AUG 2019. (13/08028-1, 13/02983-1, 16/09707-8, 14/08049-1)

LUIZ GUSTAVO DUFNER-ALMEIDA; DAYANE BERNARDINO DA CRUZ; REGINA CÉLIA MINGRONI NETTO; ANA CARLA BATISSOCO; JEANNE OITICICA; RODRIGO SALAZAR-SILVA. Terapia com células-tronco para perda auditiva: já chegamos lá?. Brazilian Journal of Otorhinolaryngology, v. 85, n. 4, p. 520-529, 2019-08-29. (13/08028-1, 09/09473-3)

NUNES, KELLY; PIOVEZAN, BRUNO; TORRES, MARGARETH A.; PONTES, GERLANDIA N.; KIMURA, LILIAN; CARNAVALLI, JULIANA E. P.; MINGRONI NETTO, REGINA CELIA; MORAES, MARIA ELISA; MEYER, DIOGO. Population variation of HLA genes in rural communities in Brazil, the Quilombos from the Vale do Ribeira, Sao Paulo - Brazil. HUMAN IMMUNOLOGY, v. 77, n. 6, p. 447-448, JUN 2016. (12/09950-9, 12/18010-0, 13/08028-1)

VICTORINO KREPISCHI, ANA CRISTINA; CAPELLI, LEONARDO PIRES; SILVA, AMANDA GONCALVES; SOUZA DE ARAUJO, ERICA SARA; PEARSON, PETER LEES; HECK, BENJAMIN; LIMA DA COSTA, CECILIA MARIA; DE CAMARGO, BEATRIZ; ROSENBERG, CARLA. Large germline copy number variations as predisposing factor in childhood neoplasms. FUTURE ONCOLOGY, v. 10, n. 9, p. 1627-1633, JUL 2014. (09/02058-0, 09/00898-1, 08/57887-9, 13/08028-1)

DANTAS, VITOR G. L.; RAVAL, MANMEET H.; BALLESTEROS, ANGELA; CUI, RUNJIA; GUNTHER, LAURA K.; YAMAMOTO, GUILHERME L.; ALVES, LEANDRO UCELA; BUENO, ANDRE SILVA; LEZIROVITZ, KARINA; PIRANA, SULENE; et al. Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss. SCIENTIFIC REPORTS, v. 8, JUN 7 2018. (98/14254-2, 13/08028-1)

MASOTTI, C.; BRITO, L. A.; NICA, A. C.; LUDWIG, K. U.; NUNES, K.; SAVASTANO, C. P.; MALCHER, C.; FERREIRA, S. G.; KOBAYASHI, G. S.; BUENO, D. F.; et al. MRPL53, a New Candidate Gene for Orofacial Clefting, Identified Using an eQTL Approach. JOURNAL OF DENTAL RESEARCH, v. 97, n. 1, p. 33-40, JAN 2018. (13/08028-1)

ALMEIDA, MICHAEL F.; SILVA, CAROLLINY M.; D'UNHAO, ALINE M.; FERRARI, MERARI F. R.. Ratos Lewis idosos expostos a baixa e moderada doses de rotenona são um bom modelo para estudar o processo de agregação proteica e seus efeitos sobre a fisiologia celular do sistema nervoso central. Arquivos de Neuro-Psiquiatria, v. 74, n. 9, p. 737-744, SEP 2016. (13/08028-1, 15/18961-2)

GUERRA, JOAO V. S.; OLIVEIRA-SANTOS, JOSE; OLIVEIRA, DANYLLO F.; LEAL, GABRIELA F.; OLIVEIRA, JOAO RICARDO M.; COSTA, SILVIA S.; KREPISCHI, V, ANA C.; VIANNA-MORGANTE, ANGELA M.; MASCHIETTO, MARIANA. DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation. EUROPEAN JOURNAL OF MEDICAL GENETICS, v. 63, n. 3, MAR 2020. (15/22758-8, 13/08028-1, 15/06281-7)

KAID, CAROLINI; ASSONI, AMANDA; MARCOLA, MARINA; SEMEDO-KURIKI, PATRICIA; BORTOLIN, RAUL HERNANDES; CARVALHO, VALDEMIR MELECHCO; OKAMOTO, OSWALDO KEITH. Proteome and miRNome profiling of microvesicles derived from medulloblastoma cell lines with stem-like properties reveals biomarkers of poor prognosis. Brain Research, v. 1730, MAR 1 2020. (13/08028-1)

LARA CARVALHO, LAURA MACHADO; D'ANGELO, CARLA SUSTEK; VILLELA, DARINE; DA COSTA, SILVIA SOUZA; DE LIMA JORGE, ALEXANDER AUGUSTO; DA SILVA, ISRAEL TOJAL; SCLIAR, MARILIA DE OLIVEIRA; CHAVES, LUIZA DIAS; VICTORINO KREPISCHI, ANA CRISTINA; KOIFFMANN, CELIA PRISZKULNIK; et al. Genetic investigation of syndromic forms of obesity. International Journal of Obesity, v. N/A, p. 5-pg., 2022-05-21. (13/08028-1, 18/08486-3, 12/50981-5)

LIMA, ARIADNE R.; FERREIRA, BARBARA M.; ZHANG, CHAOFAN; JOLLY, ANGAD; DU, HAOWEI; WHITE, JANSON J.; DAWOOD, MOEZ; LINS, TULIO C.; CHIABAI, MARCELA A.; BEUSEKOM, ELLEN; et al. Phenotypic and mutational spectrum of ROR2-related Robinow syndrome. Human mutation, v. 43, n. 7, p. 19-pg., 2022-05-10. (13/08028-1)

LEZIROVITZ, KARINA; MINGRONI-NETTO, REGINA CELIA. Genetic etiology of non-syndromic hearing loss in Latin America. Human Genetics, OCT 2021. (13/08028-1)

KAJITANI, GUSTAVO SATORU; BRACE, LEAR; TREVINO-VILLARREAL, JOSE HUMBERTO; TROCHA, KASPAR; MACARTHUR, MICHAEL ROBERT; VOSE, SARAH; VARGAS, DORATHY; BRONSON, RODERICK; MITCHELL, SARAH JAYNE; MARTINS MENCK, CARLOS FREDERICO; et al. Neurovascular dysfunction and neuroinflammation in a Cockayne syndrome mouse model. AGING-US, v. 13, n. 19, p. 22710-22731, OCT 15 2021. (19/19435-3, 13/08028-1)

AMARAL, MURILO SENA; GOULART, ERNESTO; CAIRES-JUNIOR, LUIZ CARLOS; MORALES-VICENTE, DAVID ABRAHAM; SOARES-SCHANOSKI, ALESSANDRA; GOMES, ROSELANE PAIVA; OLBERG, GIOVANNA GONCALVES DE OLIVEIRA; ASTRAY, RENATO MANCINI; KALIL, JORGE E.; ZATZ, MAYANA; et al. Differential gene expression elicited by ZIKV infection in trophoblasts from congenital Zika syndrome discordant twins. PLoS Neglected Tropical Diseases, v. 14, n. 8, AUG 2020. (14/03620-2, 13/08028-1, 14/50931-3, 18/23693-5)

NASLAVSKY, MICHEL SATYA; VIDIGAL, MATEUS; BARROS MATOS, LARISSA DO REGO; CORIA, VIVIAN ROMANHOLI; BATISTA JUNIOR, PEDRO BENEDITO; RAZUK, ALVARO; NASCIMENTO SALDIVA, PAULO HILARIO; DOLHNIKOFF, MARISA; SCHIDLOWSKI, LAIRE; PRANDO, CAROLINA; et al. Extreme phenotypes approach to investigate host genetics and COVID-19 outcomes. GENETICS AND MOLECULAR BIOLOGY, v. 44, n. 1, 1, 2021. (13/08028-1, 14/50931-3)

CARVALHO, LAURA M. L.; D'ANGELO, CARLA S.; MUSTACCHI, ZAN; DA SILVA, ISRAEL T.; KREPISCHI, ANA CRISTINA V.; KOIFFMANN, CELIA P.; ROSENBERG, CARLA. A novel MYT1L mutation in a boy with syndromic obesity: Case report and literature review. OBESITY RESEARCH & CLINICAL PRACTICE, v. 15, n. 2, p. 124-132, MAR-APR 2021. (13/08028-1, 18/08486-3)

MITSUGI, THIAGO GIOVE; SHERWOOD, MATT; JANDREY, ELISA HELENA FARIAS; ASSONI, AMANDA FARIA; BELL, JOSEPH; COKE, BRANDON; SKIPP, PAUL; EWING, ROB; OKAMOTO, OSWALDO KEITH. Integrated interactome, proteomic and functional analyses reveal molecular pathways driving L1TD1-induced aggressiveness in CNS embryonal tumor cells. FEBS Letters, v. N/A, p. 17-pg., 2025-02-06. (21/00689-5, 16/50021-2, 18/20373-0, 13/08028-1)

SAMOGY-COSTA, CLAUDIA; MANDANELO, LUCIANA; WANG, JAQUELINE; CAMPOS, GABRIELE; GIRARDI, ANA CRISTINA; SCLIAR, MARILIA; MONFARDINI, FREDERICO; CORIA, VIVIAN; VIBRANOVSKI, MARIA; LOURENCO, NAILA; et al. USE OF HOMOGENIZED COHORT TO DISSECT THE GENETIC ARCHITECTURE OF AUTISM: LESSONS FROM DYSTROPHIN-DEFICIENT MODEL. European Neuropsychopharmacology, v. 87, p. 1-pg., 2024-10-16. (19/19521-7, 13/08028-1, 23/01887-0)

CARDOZO, LAIS FARIA MASULK; SCHWIND, MARIANA RICHARTZ; DE PEREIRA, ANA PAULA ALMEIDA; DUFNER-ALMEIDA, LUIZ GUSTAVO; HADDAD, LUCIANA AMARAL; BRUCK, ISAC; ANTONIUK, SERGIO ANTONIO. Neuropsychological profile in tuberous sclerosis complex: a study of clinical and cognitive variables in a cohort from Brazil. Arquivos de Neuro-Psiquiatria, v. 82, n. 07, p. 8-pg., 2024-07-01. (13/08028-1)

PIRES, LUCAS VIEIRA LACERDA; DA CAS, EDUARDO; DE MELO, LETICIA COLE; NAKAIE, CLEYDE MIRIAN AVERSA; AIELLO, VERA DERMACHI; YAMAMOTO, GUILHERME LOPES; HONJO, RACHEL SAYURI; KIM, CHONG AE; BERTOLA, DEBORA ROMEO. Plastic Bronchitis in Noonan Syndrome: Further Evidence Suggesting a Higher Risk of Lymphatic Abnormalities in Individuals Harboring Variants in PTPN11 Residue p.Phe285. MOLECULAR SYNDROMOLOGY, v. N/A, p. 6-pg., 2024-08-22. (13/08028-1)

BRIDE, LAIS; NASLAVSKY, MICHEL; YAMAMOTO, GUILHERME LOPES; SCLIAR, MARILIA; PIMASSONI, LUCIA H. S.; AGUIAR, PAOLA SOSSAI; DE PAULA, FLAVIA; WANG, JAQUELINE; DUARTE, YEDA; PASSOS-BUENO, MARIA RITA; et al. TCF7L2 rs7903146 polymorphism association with diabetes and obesity in an elderly cohort from Brazil. PeerJ, v. 9, MAY 5 2021. (13/08028-1, 14/50931-3)

BATISSOCO, A. C.; LEZIROVITZ, K.; ZANATTA, D. B.; HEMZA, C. R. M. L.; VASQUES, L. R.; STRAUSS, B. E.; MINGRONI-NETTO, R. C.; HADDAD, L. A.; BENTO, R. F.; OITICICA, J.. Cochlea cell-specific marker expression upon in vitro Hes1 knockdown. Brazilian Journal of Medical and Biological Research, v. 54, n. 7, 2021. (09/09473-3, 13/08028-1, 08/00458-9)

CALPENA, EDUARDO; WURMSER, MAUD; MCGOWAN, SIMON J.; ATIQUE, RODRIGO; BERTOLA, DEBORA R.; CUNNINGHAM, MICHAEL L.; GUSTAFSON, JONAS A.; JOHNSON, DAVID; MORTON, V, JENNY E.; PASSOS-BUENO, MARIA RITA; et al. nexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorder. JOURNAL OF MEDICAL GENETICS, v. 59, n. 2, JAN 2021. (13/08028-1)

CARDOSO, FABRIZIO DOS SANTOS; DE SOUZA OLIVEIRA TAVARES, CRISTIANE; ARAUJO, BRUNO HENRIQUE SILVA; MANSUR, FERNANDA; LOPES-MARTINS, RODRIGO ALVARO BRANDAO; GOMES DA SILVA, SERGIO. Improved Spatial Memory And Neuroinflammatory Profile Changes in Aged Rats Submitted to Photobiomodulation Therapy. Cellular and Molecular Neurobiology, v. 42, n. 6, p. 12-pg., 2021-03-11. (13/08028-1, 17/16443-0)

ROCHA, LILIAN KELLY FARIA LICARIAO; FERREIRA, PAULA; GIANOTTI, MARCELO A.; AVANCINI, JOAO; MENCK, CARLOS F. M.; CASTRO, LIGIA P.; DE OLIVEIRA, ZILDA NAJJAR PRADO; RIVITTI, MARIA C.; SAMORANO, LUCIANA P.; PEREIRA, NAIURA VIEIRA; et al. Imiquimod chemoprophylaxis for field cancerization in xeroderma pigmentosum patients-A prospective study. VETERINARY RECORD CASE REPORTS, v. 11, n. 3, p. 4-pg., 2023-04-13. (13/08028-1, 19/19435-3)

SAMOGY COSTA, CLAUDIA ISMANIA; DA SILVA MONTENEGRO, EDUARDA MORGANA; ZARREI, MEHDI; MOREIRA, ELOISA DE SA; WAHYS SILVA, ISABELA MAYA; SCLIAR, MARILIA DE OLIVEIRA; WANG, JAQUELINE YU TING; ZACHI, ELAINE CRISTINA; BRANCO, ELISA VARELLA; DA COSTA, SILVIA SOUZA; et al. Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes. Clinical Genetics, v. 101, n. 1, NOV 2021. (13/08028-1, 19/19521-7)

TAVARES, VANESSA LUIZA ROMANELLI; GUIMARAES-RAMOS, SOFIA LIGIA; ZHOU, YAN; MASOTTI, CIBELE; EZQUINA, SUZANA; MOREIRA, DANIELLE DE PAULA; BUERMANS, HENK; FREITAS, RENATO S.; DEN DUNNEN, JOHAN T.; TWIGG, STEPHEN R. F.; et al. New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements. JOURNAL OF MEDICAL GENETICS, NOV 2021. (13/08028-1)

CHAVES, RODRIGO S.; KAZI, AMAJAD, I; SILVA, CAROLLINY M.; ALMEIDA, MICHAEL F.; LIMA, RAQUEL S.; CARRETTIERO, DANIEL C.; DEMASI, MARILENE; FERRARI, MERARI F. R.. Presence of insoluble Tau following rotenone exposure ameliorates basic pathways associated with neurodegeneration. IBRO REPORTS, v. 1, p. 14-pg., 2016-12-01. (11/15281-0, 11/00478-2, 15/18961-2, 11/15283-2, 13/08028-1, 15/23426-9)

ALMEIDA, MICHAEL F.; CHAVES, RODRIGO S.; SILVA, CAROLLINY M.; CHAVES, JULIANA C. S.; MELO, KARLA P.; FERRARI, MERARI F. R.. BDNF trafficking and signaling impairment during early neurodegeneration is prevented by moderate physical activity. IBRO REPORTS, v. 1, p. 13-pg., 2016-12-01. (11/15281-0, 11/00478-2, 12/15495-2, 11/15283-2, 13/08028-1)

DUFNER-ALMEIDA, LUIZ GUSTAVO; DO CARMO, RAMON TORREGLOSA; MASOTTI, CIBELE; HADDAD, LUCIANA AMARAL; KUMAR, D. Understanding human DNA variants affecting pre-mRNA splicing in the NGS era. ADVANCES IN GENETICS, VOL 103, v. 103, p. 52-pg., 2019-01-01. (13/08028-1, 16/09762-9)

CASTRO, L. P.; SAHBATOU, M.; KEHDY, F. S. G.; FARIAS, A. A.; YURCHENKO, A. A.; DE SOUZA, T. A.; ROSA, R. C. A.; MENDES-JUNIOR, C. T.; BORDA, V; MUNFORD, V; et al. The Iberian legacy into a young genetic xeroderma pigmentosum cluster in central Brazil. MUTATION RESEARCH-GENETIC TOXICOLOGY AND ENVIRONMENTAL MUTAGENESIS, v. 852, p. 12-pg., 2020-04-01. (13/08028-1, 14/15982-6)

FLORENTINO, V, PILAR T.; MENDES, DAVI; VITORINO, FRANCISCA NATHALIA L.; MARTINS, DAVI J.; CUNHA, JULIA P. C.; MORTARA, RENATO A.; MENCK, CARLOS F. M.. NA damage and oxidative stress in human cells infected by Trypanosoma cruz. PLOS PATHOGENS, v. 17, n. 4, APR 2021. (19/19435-3, 13/08028-1, 17/01760-0)

MARODIN, MARIA SUSANA JOYA; GODOY, JULIANA A.; ALVES-PAIVA, RAQUEL M.; ALVAREZ, KELEN; MITSUGI, THIAGO GIOVE; KREPISCHI, ANA CRISTINA VICTORINO; HAMERSCHLAK, NELSON; BORTOLINI, MARIA AUGUSTA TEZELLI; CASTRO, RODRIGO; KONDO, ANDREA T.; et al. Preclinical Evaluation of the Tumorigenic and Immunomodulatory Properties of Human Bone Marrow Mesenchymal Stromal Cell Populations with Clonal Trisomy 5. STEM CELLS INTERNATIONAL, v. 2022, p. 10-pg., 2022-08-19. (13/08028-1)

KREPISCHI, ANA C., V; VILLELA, DARINE; DA COSTA, SILVIA SOUZA; MAZZONETTO, PATRICIA C.; MIGLIAVACCA, MICHELE P.; MILANEZI, FERNANDA; SANTOS, JULIANA G.; GUARISCHI-SOUSA, RODRIGO; CAMPANA, GUSTAVO; KOK, FERNANDO; et al. Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil. SCIENTIFIC REPORTS, v. 12, n. 1, p. 11-pg., 2022-09-07. (13/08028-1, 12/50981-5)

LATANCIA, MARCELA T.; MORENO, NATALIA C.; LEANDRO, GIOVANA S.; RIBEIRO, VICTORIA CHAVES; DE SOUZA, IZADORA; MARTINS VIEIRA, WILLIAM KLEBER; BASTOS, ANDRE UCHIMURA; HOCH, NICOLAS CARLOS; ROCHA, CLARISSA R. R.; MENCK, CARLOS F. M.. DNA polymerase eta protects human cells against DNA damage induced by the tumor chemotherapeutic temozolomide. MUTATION RESEARCH-GENETIC TOXICOLOGY AND ENVIRONMENTAL MUTAGENESIS, v. 878, p. 11-pg., 2022-05-18. (19/06039-2, 13/08028-1, 18/10061-0, 19/19435-3)

ALVIZI, LUCAS; NANI, DIOGO; BRITO, LUCIANO ABREU; KOBAYASHI, GERSON SHIGERU; PASSOS-BUENO, MARIA RITA; MAYOR, ROBERTO. Neural crest E-cadherin loss drives cleft lip/palate by epigenetic modulation via pro-inflammatory gene-environment interaction. NATURE COMMUNICATIONS, v. 14, n. 1, p. 14-pg., 2023-05-24. (17/11430-7, 13/08028-1)

ZATZ, MAYANA; SILVA, MONIZE V. R.; DE CASTRO, MATEUS, V; NASLAVSKY, MICHEL S.. The 90 plus: longevity and COVID-19 survival. MOLECULAR PSYCHIATRY, v. 27, n. 4, p. 9-pg., 2022-02-08. (20/09702-1, 13/08028-1, 14/50931-3)

NASLAVSKY, MICHEL S.; SCLIAR, MARILIA O.; YAMAMOTO, GUILHERME L.; WANG, JAQUELINE YU TING; ZVERINOVA, STEPANKA; KARP, TATIANA; NUNES, KELLY; MAGLIOCCO CERONI, JOSE RICARDO; DE CARVALHO, DIEGO LIMA; DA SILVA SIMOES, CARLOS EDUARDO; et al. Whole-genome sequencing of 1,171 elderly admixed individuals from Sao Paulo, Brazil. NATURE COMMUNICATIONS, v. 13, n. 1, p. 11-pg., 2022-03-04. (12/24731-1, 20/02413-4, 14/50649-6, 13/08028-1, 18/15579-8, 15/25020-0, 17/19223-0, 13/17084-2)

BATISSOCO, ANA C.; SALAZAR-SILVA, RODRIGO; OITICICA, JEANNE; BENTO, RICARDO F.; MINGRONI-NETTO, REGINA C.; HADDAD, LUCIANA A.. A Cell Junctional Protein Network Associated with Connexin-26. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, v. 19, n. 9, p. 20-pg., 2018-09-01. (13/08028-1, 12/50154-1)

GOMES, FERNANDO; TURANO, HELENA; RAMOS, ANGELICA; DE BARROS, MARIO HENRIQUE; HADDAD, LUCIANA A.; NETTO, LUIS E. S.. Dissecting the molecular mechanisms of mitochondrial import and maturation of peroxiredoxins from yeast and mammalian cells. BIOPHYSICAL REVIEWS, v. 13, n. 6, p. 12-pg., 2021-12-01. (17/09443-3, 13/08028-1, 13/07937-8, 17/23839-7)

MAZZONETTO, PATRICIA C.; VILLELA, DARINE; KREPISCHI, ANA C. V.; PIERRY, PAULO M.; BONALDI, ADRIANO; ALMEIDA, LUIZ GUSTAVO D.; PAULA, MARCELO G.; BURGER, MATHEUS CARVALHO; DE OLIVEIRA, ANA GABRIELA; FONSECA, GUSTAVO G. G.; et al. Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. 194, n. 11, p. 9-pg., 2024-06-25. (13/08028-1)

RAJPUROHIT, CHETAN SINGH; KUMAR, VIVEK; CHEFFER, ARQUIMEDES; OLIVEIRA, DANYLLO; ULRICH, HENNING; OKAMOTO, OSWALDO KEITH; ZATZ, MAYANA; ANSARI, UZAIR AHMAD; KHANNA, VINAY KUMAR; PANT, ADITYA BHUSHAN. Mechanistic Insights of Astrocyte-Mediated Hyperactive Autophagy and Loss of Motor Neuron Function in SOD1(L39R)Linked Amyotrophic Lateral Sclerosis. Molecular Neurobiology, v. 57, n. 10, p. 17-pg., 2020-07-16. (13/08028-1, 12/50880-4)

CARVALHO, LAURA MACHADO LARA; BRANCO, ELISA VARELLA; SARAFIAN, RAQUEL DELGADO; KOBAYASHI, GERSON SHIGERU; DE ARAUJO, FABIANO TOFOLI; SOUZA, LUCAS SANTOS; MOREIRA, DANIELLE DE PAULA; HSIA, GABRIELLA SHIH PING; BERTOLLO, ENY MARIA GOLONI; BUCK, CECILIA BARBOSA; et al. Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: Models for Xia-Gibbs syndrome. Gene, v. 871, p. 10-pg., 2023-04-22. (20/03108-0, 20/04744-8, 13/08028-1, 20/10168-0, 18/08486-3, 19/02605-3)

RIBEIRO, DIEGO LUIS; LATANCIA, MARCELA TEATIN; DE SOUZA, IZADORA; ARIWOOLA, ABU-BAKR ADETAYO; MENDES, DAVI; ROCHA, CLARISSA RIBEIRO REILY; LENGERT, ANDRE VAN HELVOORT; MENCK, CARLOS FREDERICO MARTINS. Temozolomide resistance mechanisms: unveiling the role of translesion DNA polymerase kappa in glioblastoma spheroids in vitro. BIOSCIENCE REPORTS, v. 44, n. 5, p. 18-pg., 2024-05-29. (22/03130-1, 21/11597-4, 20/02836-2, 13/08028-1, 19/19435-3)

PIRES, SARA FERREIRA; DE BARROS, JULIANA SOBRAL; DA COSTA, SILVIA SOUZA; DO CARMO, GABRIEL BANDEIRA; SCLIAR, MARILIA DE OLIVEIRA; LENGERT, ANDRE VAN HELVOORT; BOLDRINI, ERICA; DA SILVA, SANDRA REGINI MORINI; VIDAL, DANIEL ONOFRE; MASCHIETTO, MARIANA; et al. Analysis of the Mutational Landscape of Osteosarcomas Identifies Genes Related to Metastasis and Prognosis and Disrupted Biological Pathways of Immune Response and Bone Development. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, v. 24, n. 13, p. 22-pg., 2023-07-01. (13/08028-1, 14/10250-7, 18/21047-9)

KOBAYASHI, GERSON SHIGERU; MUSSO, CAMILA MANSO; MOREIRA, DANIELLE DE PAULA; PONTILLO-GUIMARAES, GIOVANNA; HSIA, GABRIELLA SHIH PING; CAIRES-JUNIOR, LUIZ CARLOS; GOULART, ERNESTO; PASSOS-BUENO, MARIA RITA. Recapitulation of Neural Crest Specification and EMT via Induction from Neural Plate Border-like Cells. STEM CELL REPORTS, v. 15, n. 3, p. 13-pg., 2020-09-08. (13/08028-1, 16/24188-7)

BERTOLA, DEBORA R.; CASTRO, MATHEUS A. A.; YAMAMOTO, GUILHERME L.; HONJO, RACHEL S.; CERONI, JOSE RICARDO; BUSCARILLI, MICHELE M.; FREITAS, AMANDA B.; MALAQUIAS, ALEXSANDRA C.; PEREIRA, ALEXANDRE C.; JORGE, ALEXANDER A. L.; et al. Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, v. 184, n. 4, p. 16-pg., 2020-10-31. (13/08028-1, 11/17299-3)

AGUIAR, TALITA; RODRIGUES, TATIANE; LIMA DA COSTA, CECILIA MARIA; WERNECK, ISABELA; CYPRIANO, MONICA; CAMINADA DE TOLEDO, SILVIA REGINA; SANTANA DE SOUZA, JORGE ESTEFANO; TOJAL, ISRAEL; CARRARO, DIRCE M.; ROSENBERG, CARLA; et al. Insights into the somatic mutation burden of hepatoblastomas using whole exome sequencing.. Clinical Cancer Research, v. 24, n. 1, p. 1-pg., 2018-01-01. (13/08028-1, 16/04785-0)

CARVALHO, LAURA MACHADO LARA; JORGE, ALEXANDER AUGUSTO DE LIMA; BERTOLA, DEBORA ROMEO; KREPISCHI, ANA CRISTINA VICTORINO; ROSENBERG, CARLA. A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis. CURRENT OBESITY REPORTS, v. 13, n. 2, p. 25-pg., 2024-01-26. (22/03980-5, 13/08028-1, 18/08486-3)

NUNES, BEATRIZ AZEVEDO; ROMANO, ANA KAROLINA FERREIRA GONCALVES; MORGAN, MARIANA APARECIDA PASA; GONCALVES, ALICE ANDRADE; CARDOZO, LAIS FARIA MASULK; DE ALMEIDA, LUIZ GUSTAVO DUFNER; HADDAD, LUCIANA AMARAL; CRIPPA, ANA CHRYSTINA DE SOUZA; ANTONIUK, SERGIO ANTONIO; ABAGGE, KERSTIN TANIGUCHI. A dermatological assessment of pediatric patients with tuberous sclerosis complex (TSC). ANAIS BRASILEIROS DE DERMATOLOGIA, v. 99, n. 5, p. 8-pg., 2024-08-05. (13/08028-1, 19/10868-4)

NUNES, K.; KIMURA, L.; SILVA, M. A.; LEMES, R. B.; RINCON, D.; MEYER, D.; MINGRONI-NETTO, R. C.. The demographic history of Afro-descendants in the Vale do Ribeira region (Sao Paulo, Brazil), revealed by genomic data. European Journal of Human Genetics, v. 27, p. 1-pg., 2019-10-01. (13/08028-1, 12/18010-0)

CESCHIN, IANAE I.; CESCHIN, ALVARO P.; JOYA, MARIA S.; MITSUGI, THIAGO G.; NISHIKAWA, LUCILEINE K.; KREPISCHI, ANA C., V; OKAMOTO, OSWALDO K.. Functional assessment of donated human embryos for the generation of pluripotent embryonic stem cell lines. Reproductive BioMedicine Online, v. 46, n. 3, p. 11-pg., 2023-03-02. (13/08028-1)

DE CASTRO, MATEUS V.; SILVA, MONIZE V. R.; OLIVEIRA, LUANA DE M.; GOZZI-SILVA, SARAH C.; NASLAVSKY, MICHEL S.; SCLIAR, MARILIA O.; MAGALHAES, MONIZE L.; DA ROCHA, KATIA M.; NUNES, KELLY; CASTELLI, ERICK C.; et al. Immunological evaluation of young unvaccinated patients with Turner syndrome after COVID-19. INTERNATIONAL JOURNAL OF INFECTIOUS DISEASES, v. 129, p. 9-pg., 2023-02-27. (13/08028-1, 14/50931-3, 20/09702-1)

LEZIROVITZ, KARINA; VIEIRA-SILVA, GLEICIELE A.; BATISSOCO, ANA C.; LEVY, DEBORA; KITAJIMA, JOAO P.; TROUILLET, ALIX; OUYANG, ELLEN; ZEBARJADI, NAVID; SAMPAIO-SILVA, JULIANA; PEDROSO-CAMPOS, VINICIUS; et al. A rare genomic duplication in 2p14 underlies autosomal dominant hearing loss DFNA58. Human Molecular Genetics, v. 29, n. 9, p. 1520-1536, MAY 1 2020. (13/08028-1, 14/13071-6, 18/03433-9)

NASLAVSKY, MICHEL S.; SCLIAR, MARILIA O.; NUNES, KELLY; WANG, JAQUELINE Y. T.; YAMAMOTO, GUILHERME L.; GUIO, HEINNER; TARAZONA-SANTOS, EDUARDO; DUARTE, YEDA A. O.; PASSOS-BUENO, MARIA RITA; MEYER, DIOGO; et al. Biased pathogenic assertions of loss of function variants challenge molecular diagnosis of admixed individuals. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, v. 187, n. 3, SI, p. 357-363, SEP 2021. (13/08028-1, 14/50649-6, 14/50931-3)

QUINTERO-RUIZ, NATHALIA; CORRADI, CAMILA; MORENO, NATALIA CESTARI; DE SOUZA, TIAGO ANTONIO; PEREIRA CASTRO, LIGIA; ROCHA, CLARISSA RIBEIRO REILY; MENCK, CARLOS FREDERICO MARTINS. Mutagenicity Profile Induced by UVB Light in Human Xeroderma Pigmentosum Group C Cells(dagger). Photochemistry and Photobiology, SEP 2021. (13/08028-1, 19/19435-3)

FIGUEIREDO, THALITA; MENDES, ANA P. D.; MOREIRA, DANIELLE P.; GOULART, ERNESTO; OLIVEIRA, DANYLLO; KOBAYASHI, GERSON S.; STERN, SHANI; KOK, FERNANDO; MARCHETTO, MARIA C.; SANTOS, RENATA; et al. Inositol monophosphatase 1 (IMPA1) mutation in intellectual disability patients impairs neurogenesis but not gliogenesis. MOLECULAR PSYCHIATRY, v. 26, n. 7, p. 3558-3571, JUL 2021. (16/09618-5, 17/19877-0, 13/08028-1, 19/18469-1, 14/50931-3)

MICHEL SATYA NASLAVSKY; MATEUS VIDIGAL; LARISSA DO RÊGO BARROS MATOS; VIVIAN ROMANHOLI CÓRIA; PEDRO BENEDITO BATISTA JUNIOR; ÁLVARO RAZUK; PAULO HILÁRIO NASCIMENTO SALDIVA; MARISA DOLHNIKOFF; LAIRE SCHIDLOWSKI; CAROLINA PRANDO; et al. Extreme phenotypes approach to investigate host genetics and COVID-19 outcomes. GENETICS AND MOLECULAR BIOLOGY, v. 44, n. 1, 2021-03-01. (13/08028-1, 14/50931-3)

CASTELLI, ERICK C.; DE CASTRO, MATEUS V.; NASLAVSKY, MICHEL S.; SCLIAR, MARILIA O.; SILVA, NAYANE S. B.; PEREIRA, RAPHAELA N.; CIRIACO, VIVIANE A. O.; CASTRO, CAMILA F. B.; MENDES-JUNIOR, CELSO T.; SILVEIRA, ETIELE DE S.; et al. MUC22, HLA-A, and HLA-DOB variants and COVID-19 in resilient super-agers from Brazil. FRONTIERS IN IMMUNOLOGY, v. 13, p. 15-pg., 2022-10-25. (14/50931-3, 20/09702-1, 17/19223-0, 19/19998-8, 13/08028-1)

LIMA, NATHAN C. R.; MELO, THAIANY Q.; SAKUGAWA, ANDRESSA Y. S.; MELO, KARLA P.; FERRARI, MERARI F. R.. Restoration of Rab1 Levels Prevents Endoplasmic Reticulum Stress in Hippocampal Cells during Protein Aggregation Triggered by Rotenone. Neuroscience, v. 419, p. 5-13, NOV 1 2019. (17/14273-0, 13/08028-1, 15/10892-1, 11/06434-7, 15/18961-2)

GOULART, ERNESTO; DE CAIRES-JUNIOR, LUIZ CARLOS; TELLES-SILVA, KAYQUE ALVES; SILVA ARAUJO, BRUNO HENRIQUE; ROCCO, SILVANA APARECIDA; SFORCA, MAURICIO; DE SOUSA, IRENE LAYANE; KOBAYASHI, GERSON S.; MUSSO, CAMILA MANSO; ASSONI, AMANDA FARIA; et al. 3D bioprinting of liver spheroids derived from human induced pluripotent stem cells sustain liver function and viability in vitro. BIOFABRICATION, v. 12, n. 1, JAN 2020. (17/16283-2, 13/08028-1, 14/50931-3, 15/14821-1)

MARTINS, DAVI JARDIM; SINGH, JENNY KAUR; JAHJAH, TIYA; VESSONI, ALEXANDRE TEIXEIRA; LEANDRO, GIOVANA DA SILVA; SILVA, MATHEUS MOLINA; BIARD, DENIS SERGE FRANCOIS; QUINET, ANNABEL; MENCK, CARLOS FREDERICO MARTINS. Polymerase iota plays a key role during translesion synthesis of UV-induced lesions in the absence of polymerase eta. Photochemistry and Photobiology, v. 100, n. 1, p. 15-pg., 2023-11-05. (17/05680-0, 13/08028-1, 14/15982-6, 19/19435-3)

DE VASCONCELOS, FELIPE TADEU GALANTE ROCHA; RIBEIRO JUNIOR, ANTONIO FERNANDO; SOUZA, BRANDOW WILLY; ZOGBI, ISABELA DE AQUINO; CARVALHO, LAURA MACHADO LARA; FEITOSA, LETICIA NOGUEIRA; SOUZA, LUCAS SANTOS; SALDYS, NATHALIA GAGLIARDI; FERRARI, MERARI DE FATIMA RAMIRES; VAINZOF, MARIZ. Induced degeneration and regeneration in aged muscle reduce tubular aggregates but not muscle function. FRONTIERS IN NEUROLOGY, v. 15, p. 9-pg., 2024-01-26. (14/50931-3, 13/08028-1)

FERREIRA, RODOLFO SANCHES; JANDREY, ELISA HELENA FARIAS; GRANHA, ISABELA; ENDO, ALICE KEI; FERREIRA, RAIANE OLIVEIRA; ARAUJO, BRUNO HENRIQUE SILVA; ZATZ, MAYANA; OKAMOTO, OSWALDO KEITH. Differential Replication and Oncolytic Effects of Zika Virus in Aggressive CNS Tumor Cells: Insights from Organoid and Tumoroid Models. Viruses-Basel, v. 16, n. 11, p. 14-pg., 2024-11-01. (19/27784-8, 23/02209-6, 20/14109-8, 21/04323-5, 13/08028-1)

LEE, CHAE SYNG; FU, HE; BARATANG, NISSAN; ROUSSEAU, JUSTINE; KUMRA, HEENA; SUTTON, V. REID; NICETA, MARCELLO; CIOLFI, ANDREA; YAMAMOTO, GUILHERME; BERTOLA, DEBORA; et al. Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures''. American Journal of Human Genetics, v. 101, n. 5, p. 9-pg., 2017-11-02. (13/08028-1, 15/21783-9)

RIVAS, M.; BARROS, J.; AGUIAR, T.; COSTA, S.; COSTA, C.; WERNECK, I.; CARRARO, D.; TOLEDO, S.; CYPRIANO, M.; ROSENBERG, C.; et al. What is the Role of Aneuploidy in Embryonal Tumors? Cytogenomic Analysis of Hepatoblastomas. PEDIATRIC BLOOD & CANCER, v. 64, p. 1-pg., 2017-11-01. (13/08028-1)

VIEIRA, DANIELA KOELLER R.; LIMA, INGRID BENDAS FERES; ROSENBERG, CARLA; DA FONSECA, CARLOS ROBERTO; GOMES, LEONARDO HENRIQUE FERREIRA; GUIDA, LETICIA DA CUNHA; MAZZONETTO, PATRICIA CAMACHO; LLERENA JR, JUAN; BASTOS, ELENICE FERREIRA. Clinical and Cytogenetic Impact of Maternal Balanced Double Translocation: A Familial Case of 15q11.2 Microduplication and Microdeletion Syndromes with Genetic Counselling Implications. GENES, v. 15, n. 12, p. 12-pg., 2024-12-01. (13/08028-1)

Filed patent(s) as a result of this research project