CEGH-CEL - Human Genome and Stem Cell Research Center

• Grant number: 13/08028-1
• Support type: Research Grants - Research, Innovation and Dissemination Centers - RIDC
• Duration: July 01, 2013 - June 30, 2024
• Field of knowledge: Biological Sciences - Genetics
• Principal Investigator: Mayana Zatz
• Grantee: Mayana Zatz
• Home Institution: Instituto de Biociências (IB). Universidade de São Paulo (USP). São Paulo , SP, Brazil
• Co-Principal Investigators: Ana Cristina Victorino Krepischi ; Angela Maria Vianna Morgante ; Carla Rosenberg ; Celia Priszkulnik Koiffmann ; Eliana Maria Beluzzo Dessen ; Ésper Abrão Cavalheiro ; Maria Rita dos Santos e Passos Bueno ; Mariz Vainzof ; Merari de Fátima Ramires Ferrari ; Oswaldo Keith Okamoto ; Peter Lees Pearson ; Regina Célia Mingroni Netto
• Assoc. 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 grant(s): 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; 14/20796-7 - Synaptopathies in neurodevelopmental disorders: SHANK mutations as a window into synaptic function, AR.EXT
• Associated scholarship(s): 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 - Caracterization of the proteic interactoma of the pluripotency factor L1TD1 in central nervous system tumour stem cells and neural stem cells, BP.IC; + associated scholarships 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; 16/17392-7 - 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

(92)

(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)

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. Web of Science Citations: 0.

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.; RAIA, SILVANO; LELKES, PETER I.; ZATZ, MAYANA. 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. Web of Science Citations: 0.

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. Web of Science Citations: 0.

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, AUG 2019. Web of Science Citations: 0.

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; KREPISCHI, ANA; ROSENBERG, CARLA; PASSOS-BUENO, MARIA RITA. 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. Web of Science Citations: 0.

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. Web of Science Citations: 0.

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; LIMA DA COSTA, CECILIA MARIA; DA CUNHA, ISABELA WERNECK; VICTORINO KREPISCHI, ANA CRISTINA. TET Upregulation Leads to 5-Hydroxymethylation Enrichment in Hepatoblastoma. FRONTIERS IN GENETICS, v. 10, JUN 12 2019. Web of Science Citations: 0.

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; HONJO, RACHEL SAYURI; KIM, CHONG AE; MUSSO, CAMILA MANSO; TIMMONS, MARGARET; PIZZINO, AMY; TAFT, RYAN J.; LAJOIE, BRYAN; KNIGHT, MELANIE A.; FISCHBECK, KENNETH H.; SINGLETON, ANDREW B.; FERREIRA, CARLOS R.; WANG, ZHENG; YAN, LI; GARBERN, JAMES Y.; SIMSEK-KIPER, PELIN O.; OHASHI, HIROFUMI; ROBEY, PAMELA G.; BOYDE, ALAN; MATSUMOTO, NAOMICHI; MIYAKE, NORIKO; SPRANGER, JUERGEN; SCHIFFMANN, RAPHAEL; VANDERVER, ADELINE; NISHIMURA, GEN; DOS SANTOS PASSOS-BUENO, MARIA RITA; SIMONS, CAS; ISHIKAWA, KINYA; IKEGAWA, SHIRO. 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. Web of Science Citations: 2.

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. Web of Science Citations: 3.

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.; JAIN, MAHIM; LI, XIAOHUI; PARRY, DAVID A.; RAMAN, VANDANA; CHITAYAT, DAVID; CHINN, IVAN K.; BERTUCH, ALISON A.; KARAVITI, LEFKOTHEA; SCHLESINGER, ALAN E.; EARL, DAWN; BAMSHAD, MICHAEL; SAVARIRAYAN, RAVI; DODDAPANENI, HARSHA; MUZNY, DONNA; JHANGIANI, SHALINI N.; ENG, CHRISTINE M.; GIBBS, RICHARD A.; BI, WEIMIN; EMRICK, LISA; ROSENFELD, JILL A.; POSTLETHWAIT, JOHN; WESTERFIELD, MONTE; DICKINSON, MARY E.; BEAUDET, ARTHUR L.; RANZA, EMMANUELLE; HUBER, CELINE; CORMIER-DAIRE, VALERIE; SHEN, WEI; MAO, RONG; HEANEY, JASON D.; ORANGE, I. JORDAN S.; BERTOLA, DEBORA; YAMAMOTO, GUILHERME L.; BARATELA, WAGNER AR; BUTLER, MERLIN G.; ALI, ASIM; ADELI, MEHDI; COHN, DANIEL H.; KRAKOW, DEBORAH; JACKSON, ANDREW P.; LEES, MELISSA; OFFIAH, AMAKA C.; CARLSTON, COLLEEN M.; CAREY, JOHN C.; STEWART, GRANT S.; BACINO, CARLOS A.; CAMPEAU, PHILIPPE M.; LEE, BRENDAN; MENDELIAN, UNIV WASHINGTON CTR; NETWORK, UNDIAGNOSED DIS. 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. Web of Science Citations: 0.

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. Web of Science Citations: 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. Web of Science Citations: 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.; VICTORINO KREPISCHI, ANA CRISTINA; ROSENBERG, CARLA; FRANCHINI, KLEBER GOMES. Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability. Nature Chemical Biology, v. 15, n. 1, p. 62+, JAN 2019. Web of Science Citations: 2.

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. Web of Science Citations: 1.

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. Web of Science Citations: 0.

LUIZ GUSTAVO DUFNER-ALMEIDA; DAYANE BERNARDINO DA CRUZ; REGINA CÉLIA MINGRONI NETTO; ANA CARLA BATISSOCO; JEANNE OITICICA; RODRIGO SALAZAR-SILVA. Stem-cell therapy for hearing loss: are we there yet?. Brazilian Journal of Otorhinolaryngology, v. 85, n. 4, p. 520-529, Ago. 2019.

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. Web of Science Citations: 1.

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. Web of Science Citations: 3.

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. Web of Science Citations: 0.

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. Web of Science Citations: 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. Web of Science Citations: 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. Web of Science Citations: 0.

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. Web of Science Citations: 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; VADASZ, ESTEVAO; PASSOS-BUENO, MARIA RITA. Actin cytoskeleton dynamics in stem cells from autistic individuals. SCIENTIFIC REPORTS, v. 8, JUL 24 2018. Web of Science Citations: 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; ZATZ, MAYANA; OKAMOTO, OSWALDO K.; CAVALHEIRO, ESPER A. 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. Web of Science Citations: 3.

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.; LOPES, MARCO ANTONIO; BAKKER, EGBERT; ZATZ, MAYANA; BERTOLA, DEBORA; DE VLAMINCK, IWIJN; PASSOS-BUENO, MARIA RITA. Development of a comprehensive noninvasive prenatal test. GENETICS AND MOLECULAR BIOLOGY, v. 41, n. 3, p. 545-554, JUL-SEP 2018. Web of Science Citations: 2.

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.; VENTINI, DANIELLA C.; PUGLIA, ANA L. P.; GOMES, ROSELANE P.; ZATZ, MAYANA; OKAMOTO, OSWALDO K. 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. Web of Science Citations: 6.

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; MENDES, BEATRIZ C. A.; YENGO, CHRISTOPHER M.; KACHAR, BECHARA; MINGRONI-NETTO, REGINA C. Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss. SCIENTIFIC REPORTS, v. 8, JUN 7 2018. Web of Science Citations: 0.

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. Web of Science Citations: 2.

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.; BERTOLA, DEBORA; PASSOS-BUENO, MARIA RITA. Complexity of the 5 ` Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development. FRONTIERS IN GENETICS, v. 9, APR 25 2018. Web of Science Citations: 0.

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. Web of Science Citations: 3.

JOSÉ RM CERONI; GUILHERME L YAMAMOTO; RACHEL S HONJO; CHONG A KIM; MARIA R PASSOS-BUENO; DÉBORA R BERTOLA. Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?. GENETICS AND MOLECULAR BIOLOGY, v. 41, n. 1, p. -, Mar. 2018.

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; AMARAL, MURILOSENA; DASILVA, LUCAS FERREIRA; ASTRAY, RENATO MANCINI; SUAREZ-PATINO, SANDRA FERNANDA; VENTINI, DANIELLA CRISTINA; DA SILVA, SERGIO GOMES; YAMAMOTO, GUILHERME LOPES; EZQUINA, SUZANA; NASLAVSKY, MICHEL SATYA; ALVES SILVA, KAYQUE TELLES; WEINMANN, KARINA; VAN DER LINDEN, VANESSA; VAN DER LINDEN, HELIO; RICARDO DE OLIVEIRA, JOAO MENDES; MARIA ARRAIS, NIVIA RODRIGUES; MELO, ADRIANA; FIGUEIREDO, THALITA; SANTOS, SILVANA; GOES MEIRA, JOANNA CASTRO; PASSOS, SAULO DUARTE; DE ALMEIDA, ROQUE PACHECO; BISPO, ANA JOVINABARRETO; CAVALHEIRO, ESPERABRAO; KALIL, JORGE; CUNHA-NETO, EDECIO; NAKAYA, HELDER; SANTOS, ROBERT ANDREATA; DE SOUZA FERREIRA, LUIS CARLOS; VERJOVSKI-ALMEIDA, SERGIO; HO, PAULO LEE; PASSOS-BUENO, MARIA RITA; ZATZ, MAYANA. Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells. NATURE COMMUNICATIONS, v. 9, FEB 2 2018. Web of Science Citations: 9.

MEHRJOUY, MANA M.; FONSECA, ANA CAROLINA S.; EHMKE, NADJA; PASKULIN, GIORGIO; NOVELLI, ANTONIO; BENEDICENTI, FRANCESCO; MENCARELLI, MARIA ANTONIETTA; RENIERI, ALESSANDRA; BUSA, TIFFANY; MISSIRIAN, CHANTAL; HANSEN, CLAUS; ABE, KIKUE TERADA; SPECK-MARTINS, CARLOS EDUARDO; VIANNA-MORGANTE, ANGELA M.; BAK, MADS; TOMMERUP, NIELS. 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. Web of Science Citations: 2.

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. Web of Science Citations: 2.

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; TOURAINE, RENAUD; THEVENON, JULIEN; SHINAWI, MARWAN; BEAVER, ERIN; HEELEY, JENNIFER; HOOVER-FONG, JULIE; DURMAZ, CEREN D.; KARABULUT, HALIL GURHAN; MARZIOGLU-OZDEMIR, EBRU; CAYIR, ATILLA; DUZ, MEHMET B.; SEVEN, MEHMET; PRICE, SUSAN; FERREIRA, BARBARA MERFORT; VIANNA-MORGANTE, ANGELA M.; ELLARD, SIAN; PARRISH, ANDREW; STALS, KAREN; FLORES-DABOUB, JOSUE; JHANGIANI, SHALINI N.; GIBBS, RICHARD A.; BRUNNER, HAN G.; SUTTON, V. REID; LUPSKI, JAMES R.; CARVALHO, CLAUDIA M. B.; MENDELIAN, BAYLOR-HOPKINS CTR. 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. Web of Science Citations: 17.

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. Web of Science Citations: 2.

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. Web of Science Citations: 0.

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.; ALONSO, N.; FRANCO, D.; ROJAS-MARTINEZ, A.; DOS SANTOS, S. E.; GALANTE, P. A.; MEYER, D.; HUENEMEIER, T.; MANGOLD, E.; DERMITZAKIS, E. T.; PASSOS-BUENO, M. R. 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. Web of Science Citations: 0.

Development of a comprehensive noninvasive prenatal test. GENETICS AND MOLECULAR BIOLOGY, n. ahead, p. -, 2018.

Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?. GENETICS AND MOLECULAR BIOLOGY, n. ahead, p. -, 2018.

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. Web of Science Citations: 5.

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.; KIM, CHONG A.; ROSENBERG, CARLA; JORGE, ALEXANDER A. L. Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause. Hormone Research in Paediatrics, v. 89, n. 1, p. 13-21, 2018. Web of Science Citations: 3.

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. Web of Science Citations: 4.

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. Web of Science Citations: 4.

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. Web of Science Citations: 0.

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. Web of Science Citations: 1.

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; CAMINADA DE TOLEDO, SILVIA REGINA; PEARSON, PETER LEES; CARRARO, DIRCE MARIA; ROSENBERG, CARLA; KREPISCHI, ANA C. V. 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. Web of Science Citations: 1.

LEE, CHAE SYNG; FU, HE; BARATANG, NISSAN; ROUSSEAU, JUSTINE; KUMRA, HEENA; SUTTON, V. REID; NICETA, MARCELLO; CIOLFI, ANDREA; YAMAMOTO, GUILHERME; BERTOLA, DEBORA; MARCELIS, CARLO L.; LUGTENBERG, DORIEN; BARTULI, ANDREA; KIM, CHOEL; HOOVER-FONG, JULIE; SOBREIRA, NARA; PAULI, RICHARD; BACINO, CARLOS; KRAKOW, DEBORAH; PARBOOSINGH, JILLIAN; YAP, PATRICK; KARIMINEJAD, ARIANA; MCDONALD, MARIE T.; ARACENA, MARIANA I.; LAUSCH, EKKEHART; UNGER, SHEILA; SUPERTI-FURGA, ANDREA; LU, JAMES T.; COHN, DAN H.; TARTAGLIA, MARCO; LEE, BRENDAN H.; REINHARDT, DIETER P.; CAMPEAU, PHILIPPE M.; MENDELIAN, BAYLOR-HOPKINS CTR. 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. Web of Science Citations: 8.

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. Web of Science Citations: 11.

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.; GRINBERG, LEA T.; BRENTANI, HELENA; MARIA-ENGLER, SILVYA S.; CARRARO, DIRCE M.; VIANNA-MORGANTE, ANGELA M.; ROSENBERG, CARLA; VASQUES, LUCIANA R.; KREPISCHI, ANA. Mining Novel Candidate Imprinted Genes Using Genome-Wide Methylation Screening and Literature Review. EPIGENOMES, v. 1, n. 2 SEP 2017. Web of Science Citations: 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. Web of Science Citations: 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; BERNARDO, DANILO VICENSOTTO; AMARO, JR., EDSON; DUARTE, YEDA A. O.; LEBRAO, MARIA LUCIA; PASSOS-BUENO, MARIA RITA; ZATZ, MAYANA. Exomic variants of an elderly cohort of Brazilians in the ABraOM database. Human mutation, v. 38, n. 7, p. 751-763, JUL 2017. Web of Science Citations: 38.

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; GENNARI DE MEDEIROS, MARISA HELENA; MARTINS MENCK, CARLOS FREDERICO. 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. Web of Science Citations: 4.

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; BERTOLA, DEBORA R.; PASSOS-BUENO, MARIA RITA; SILVER, DEBRA L. 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. Web of Science Citations: 4.

ALTMUELLER, FRANZISKA; LISSEWSKI, CHRISTINA; BERTOLA, DEBORA; FLEX, ELISABETTA; STARK, ZORNITZA; SPRANGER, STEPHANIE; BAYNAM, GARETH; BUSCARILLI, MICHELLE; DYACK, SARAH; GILLIS, JANE; YNTEMA, HELGER G.; PANTALEONI, FRANCESCA; VAN LOON, ROSA L. E.; MACKAY, SARA; MINA, KYM; SCHANZE, INA; TAN, TIONG YANG; WALSH, MAIE; WHITE, SUSAN M.; NIEWISCH, MARENA R.; GARCIA-MINAUR, SIXTO; PLAZA, DIEGO; AHMADIAN, MOHAMMAD REZA; CAVE, HELENE; TARTAGLIA, MARCO; ZENKER, MARTIN. Genotype and phenotype spectrum of NRAS germline variants. European Journal of Human Genetics, v. 25, n. 7, p. 823-831, JUN 2017. Web of Science Citations: 5.

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. Web of Science Citations: 49.

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. Web of Science Citations: 22.

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. Web of Science Citations: 8.

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.; ALVES, F. I. A.; MOURA, L. M. S.; GALANTE, P. A. F.; CAMARGO, A. A.; LIBOREDO, R.; PENA, S. D. J.; SARASIN, A.; CHAIBUB, S. C.; MENCK, C. F. M. 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. Web of Science Citations: 8.

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.; LEES, M.; MOORE, G. E.; STANIER, P.; PASSOS-BUENO, M. R.; GOSGENE. 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. Web of Science Citations: 7.

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; FREITAS, RENATO S.; SOUZA, JOSIANE; RAPOSO-AMARAL, CESAR A.; ZATZ, MAYANA; AMIEL, JEANNE; GUION-ALMEIDA, MARIA L.; PASSOS-BUENO, MARIA RITA. 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. Web of Science Citations: 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, SI MAR-APR 2017. Web of Science Citations: 3.

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. Web of Science Citations: 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. Web of Science Citations: 11.

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; OKAMOTO, OSWALDO KEITH. High OCT4A levels drive tumorigenicity and metastatic potential of medulloblastoma cells. ONCOTARGET, v. 8, n. 12, p. 19192-19204, 2017. Web of Science Citations: 2.

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. Web of Science Citations: 7.

ALMEIDA, MICHAEL F.; SILVA, CAROLLINY M.; D'UNHAO, ALINE M.; FERRARI, MERARI F. R. Aged Lewis rats exposed to low and moderate doses of rotenone are a good model for studying the process of protein aggregation and its effects upon central nervous system cell physiology. Arquivos de Neuro-Psiquiatria, v. 74, n. 9, p. 737-744, SEP 2016. Web of Science Citations: 4.

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. Web of Science Citations: 3.

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. Web of Science Citations: 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. Web of Science Citations: 23.

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. Web of Science Citations: 12.

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; KREMERS, JAN; VENTURA, DORA FIX. 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. Web of Science Citations: 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. Web of Science Citations: 1.

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. Web of Science Citations: 2.

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. Web of Science Citations: 17.

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. Web of Science Citations: 8.

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.; GIL-DA-SILVA-LOPES, VERA LUCIA. 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. Web of Science Citations: 4.

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. Web of Science Citations: 12.

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. Web of Science Citations: 3.

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. Web of Science Citations: 15.

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. Web of Science Citations: 2.

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; KUNKEL, LOUIS M.; ZATZ, MAYANA. Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype. Cell, v. 163, n. 5, p. 1204-1213, NOV 19 2015. Web of Science Citations: 57.

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. Web of Science Citations: 5.

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; FELIX, TEMIS MARIA; ZATZ, MAYANA; SERUCA, RAQUEL; PASSOS-BUENO, MARIA RITA. 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. Web of Science Citations: 21.

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. Web of Science Citations: 25.

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. Web of Science Citations: 16.

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.; LANDINI, V.; ANDRADE, T. A normal life without muscle dystrophin. Neuromuscular Disorders, v. 25, n. 5, p. 371-374, MAY 2015. Web of Science Citations: 11.

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; CARLIER, PIERRE G.; VAINZOF, MARIZ. 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. Web of Science Citations: 6.

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; O' HALLORAN, EOGHAN; MAGALHAES, TIAGO R.; FETT-CONTE, AGNES C.; PASSOS-BUENO, MARIA RITA. 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. Web of Science Citations: 13.

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. Web of Science Citations: 2.

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. Web of Science Citations: 5.

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