Mayana Zatz is Professor of Human and Medical Genetics. Director of the Human Genome Research Center (Hug-cell) and Nacional Program (INCT): aging and genetics: genomics and metagenomics, at the University of São Paulo ( USP). Graduaded in Biology, USP (1968), Ph.D. in Human and Medical Genetics at USP (1974), and post-doc in medical genetics (1975-1977) at University of California, USA. She is Member of the Brazilian Academy of Sciences and Academy of Sciences for the developing world (TWAS). Was founder and president of the Brazilian Muscular Dystrophy Association (ABDIM) from 1981-2013. Her research in human and medical genetics, are focused mainly in stem-cells (as a tool to understand gene functioning and cell therapy) , aging and neuromuscular disorders focusing the following aspects: gene identification, genotype-phenotype correlations , and mechanisms underlying clinical variability. More recently she is investigating the use of zika virus aigainst brain cancer. She has published 377 peer-reviewed papers (April 2021), which were cited ~ 12458 times (average 33 per paper). H index = 55 (Publon); H=70 (Google Scholar, 21118 citations ), Scopus: H=57, 13645 citations . She has been the mentor of undergraduate and graduate students who presented 51 thesis. Was awarded several international prizes such as: L 'Oreal 's / UNESCO for Women in Science-as the best Latin American researcher in 2001 - TWAS for Research in Medical Sciences in 2004, Mexican Prize of Science and Technology in 2008 and Gaetano Conte in 2011. She was columnist of the weekly magazine VEJA having written more than 250 articles for lay people. She is the author of the book Gen ÉTICA. From 2010 to 2012 she was part of the board of revisors (BORE) of scientific journal Science. She has been actively Involved in ethical aspects related to genome research, genetic testing and scientific political decisions regarding the approval of the embryonic stem -cells bill in 2005 and 2008. Currently she is also investigating the genetic variability associated to COVID-19 clinical variability. (Source: Lattes Curriculum)
Successful response to the COVID-19 pandemic caused by the new coronavirus (SARS-CoV-2) has been observed in countries equipped with resources that enable mass testing of the population, such as South Korea (Normile, 2020). With increasing international demand for laboratory supplies, countries such as Germany, Singapore and South Korea have been redirecting their industrial capacity to p…
Motivated by the growing need for transplantation-available organs and the latest developments in genomic editing technologies such as the CRISPR-Cas9 system, significant progress in the efficiency and safety of xenotransplantation techniques has been achieved in the last two years. Genetically engineered pigs developed to prevent receptor hyperacute immune rejection have been successfull…
Healthy aging and longevity are a growing topic of interest. They depend on the complex interplay between nuclear and mitochondrial DNA, the environment and the microbiota, that is, the whole set of bacteria living in the different parts of our body with their whole set of genes. Understanding this complex nature versus nurture balance is one of the greatest challenges in human genetics a…
(Only some records are available in English at this moment)
This is an application for financial support to permit Peter Pearson, a visiting professor on extended stay, to continue his research, teaching and coordination activities at the Department of Genetics and Evolutionary Biology, IBUSP. Professor Pearson retired in the Netherlands where he was head of two Human Genetics Department (Universities of Leiden and Utrecht). Among his many countle…
This is a proposal to establish a reference centre for a stem cell bank from patients with genetic diseases and associated stem cell research linked to the largest center for the study of genetic disorders in Latin-America The major challenge behind all genome research is to understand how genes function and interact with each other. The understanding of gene function requires studies tha…
(Only some records are available in English at this moment)
One of the major challenges of modern science is to understand the genetic mechanisms behind the healthy aging process. Genome analysis of those who reached nine or more decades of life without any cognitive decline is a promising tool for investigating the genetic factors and variables involved in healthy longevity. In this sense, the objective of this study will be to identify genes inv…
Xenotransplantation has achieved great progress over the last years, especiallyfollowing the advances of genetic engineering technologies. In this context, the use of pigs as an organ source has drawn attention due to the reproductive advantages and the anatomical and physiological similarities with primates. However, despite the benefits provided by the use of a pig model, organ transpla…
The liver is a crucial organ regarding metabolic, immune and homeostatic regulation. Chronic and acute liver diseases, congenital or behavioral, accounts for approximately 2 million deaths per year. The only therapeutic options to severe liver diseases are partial or total liver transplantation. Hepatic tissue engineering, allied to human induced pluripotent stem cells (hiPSCs) technology…
(Only some records are available in English at this moment)
Hereditary spastic paraplegia (HSP) are a diverse group of genetic disorders characterized by lower limbs weakness and progressive spasticity which results from axon degeneration of upper motor neurons. Mutations in the SPAST gene (SPG4) is the most frequent autosomal dominant form with over than 300 mutations identified so far. SPAST codify for spastin, protein responsible for severing m…
The main goal of this project is to advance for an efficient therapy for Duchenne Muscular Dystrophy (DMD) based on a novel therapeutic approach. DMD is the most common and severe muscular dystrophy, affecting 1 in 3.500 to 5000 newborn male children. DMD is caused by the absence of dystrophin, an intracellular membrane-associated protein responsible for damping the mechanical stress from…
A part of the population in Northeastern Brazil is relatively isolated geographically and has maintained the tradition of consanguineous marriages for generations. These two factors (isolation and inbreeding) increase the risk of birth of people with autosomal recessive diseases, including Intellectual Disabilities (ID), which has an extremely heterogeneous genetic basis and up to 60% of …
(Only some records are available in English at this moment)
Specific aims: This proposal investigates the potential protectiveness of Notch signaling modulation in muscle satellite cells (MuSC) of Duchenne Muscular Dystrophy (DMD) patients. Hypothesis: Modulation of the Notch pathway signaling may delay motor function impairment of DMD patients by conserving the MuSC pool. Previous studies: Our group showed that the enhanced expression of the Notc…
The genetic basis of intellectual disability (ID) is extremely heterogeneous and relatively little is known about the role of autosomal recessive traits. However, in recent years, advances in technology have put development of induced pluripotent stem cells (iPSCs), and further differentiation into neuronal cells, at the forefront of neurological research. The use of iPSC-derived cells al…
| 4 / 4 | Ongoing research grants |
| 18 / 11 | Completed research grants |
| 6 / 6 | Ongoing scholarships in Brazil |
| 61 / 23 | Completed scholarships in Brazil |
| 2 / 2 | Completed scholarships abroad |
| 91 / 46 | All research grants and scholarships |
| Associated processes | |
(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)
| Publications | 149 |
| Citations | 1,092 |
| Cit./Article | 7.3 |
| Data from Web of Science | |
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. Web of Science Citations: 0. (15/20844-4, 17/14923-4, 17/26609-2, 15/16661-1, 13/08028-1, 19/15212-0)
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. Web of Science Citations: 0. (14/50931-3, 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. Web of Science Citations: 0. (13/08028-1, 17/16443-0)
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. Web of Science Citations: 1. (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. Web of Science Citations: 1. (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. Web of Science Citations: 1. (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. Web of Science Citations: 0. (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. Web of Science Citations: 1. (13/08028-1, 16/14517-3, 16/22318-0)
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. (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. Web of Science Citations: 25. (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. Web of Science Citations: 1. (13/08028-1, 10/15503-0, 09/00898-1)
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. Web of Science Citations: 9. (13/08028-1, 14/15982-6)
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: 73. (13/08028-1, 14/15982-6)
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. Web of Science Citations: 5. (13/08028-1, 13/03236-5, 15/26980-7, 09/00898-1)
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. Web of Science Citations: 19. (13/08028-1)
LINHARES, NATALIA D.; VALADARES, EUGENIA R.; DA COSTA, SILVIA S.; ARANTES, RODRIGO R.; DE OLIVEIRA, LUIZ ROBERTO; ROSENBERG, CARLA; VIANNA-MORGANTE, ANGELA M.; SVARTMAN, MARTA. Inherited Xq13.2-q21.31 duplication in a boy with recurrent seizures and pubertal gynecomastia: Clinical, chromosomal and aCGH characterization. META GENE, v. 9, p. 185-190, SEP 2016. Web of Science Citations: 4. (98/14254-2, 09/00898-1)
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. Web of Science Citations: 3. (13/08028-1, 12/51799-6, 12/10071-0, 09/00898-1)
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. Web of Science Citations: 10. (13/08028-1, 14/15982-6)
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. (12/09950-9, 13/08028-1, 98/14254-2, 12/18010-0)
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: 9. (13/08028-1, 12/15495-2)
D'ANGELO, CARLA SUSTEK; KOHL, ILANA; VARELA, MONICA CASTRO; EMILIO DE CASTRO, CLAUDIA IRENE; KIM, CHONG AE; BERTOLA, DEBORA ROMEO; LOURENCO, CHARLES MARQUES; ALVAREZ PEREZ, ANA BEATRIZ; KOIFFMANN, CELIA PRISZKULNIK. Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. 161A, n. 3, p. 479-486, MAR 2013. Web of Science Citations: 18. (98/14254-2)
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, SEP 2018. Web of Science Citations: 2. (12/50154-1, 13/08028-1)
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: 5. (11/06434-7, 13/08028-1, 15/18961-2)
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. Web of Science Citations: 0. (14/15982-6, 12/16929-6, 13/08028-1, 18/06619-6)
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. Web of Science Citations: 0. (14/15982-6, 15/15184-5, 13/08028-1, 17/24217-0)
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; 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. Web of Science Citations: 1. (16/17392-7, 13/08028-1)
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. Web of Science Citations: 0. (14/15982-6, 13/08028-1)
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. Web of Science Citations: 0. (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. Web of Science Citations: 1. (16/04785-0, 17/16283-2, 16/23462-8, 13/08028-1, 15/14821-1)
OLIVEIRA, DANYLLO; MORALES-VICENTE, DAVID A.; AMARAL, MURILO S.; LUZ, LIVIA; SERTIE, ANDREA L.; LEITE, FELIPE S.; NAVARRO, CLAUDIA; KAID, CAROLINI; ESPOSITO, JOYCE; GOULART, ERNESTO; et al. Different gene expression profiles in iPSC-derived motor neurons from ALS8 patients with variable clinical courses suggest mitigating pathways for neurodegeneration. Human Molecular Genetics, v. 29, n. 9, p. 1465-1475, MAY 1 2020. Web of Science Citations: 1. (15/14821-1, 17/16283-2)
D'ANGELO, CARLA SUSTEK; VARELA, MONICA CASTRO; EMILIO DE CASTRO, CLAUDIA IRENE; OTTO, PAULO ALBERTO; ALVAREZ PEREZ, ANA BEATRIZ; LOURENCO, CHARLES MARQUES; KIM, CHONG AE; BERTOLA, DEBORA ROMEO; KOK, FERNANDO; GARCIA-ALONSO, LUIS; et al. Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity. MOLECULAR CYTOGENETICS, v. 11, FEB 5 2018. Web of Science Citations: 7. (98/14254-2)
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. Web of Science Citations: 9. (14/50931-3, 13/08028-1, 14/03620-2)
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. Web of Science Citations: 6. (17/16283-2, 15/14821-1, 14/08049-1, 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. Web of Science Citations: 4. (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. Web of Science Citations: 1. (15/14821-1, 17/16283-2, 16/04785-0, 13/08028-1, 16/23462-8)
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: 5. (13/08028-1)
BONALDI, ADRIANO; MAZZEU, JULIANA F.; COSTA, SILVIA S.; HONJO, RACHEL S.; BERTOLA, DEBORA R.; ALBANO, LILIAN M. J.; FURQUIM, ISABEL M.; KIM, CHONG A.; VIANNA-MORGANTE, ANGELA M.. Microduplication of the ICR2 Domain at Chromosome 11p15 and Familial Silver-Russell Syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. 155A, n. 10, p. 2479-2483, OCT 2011. Web of Science Citations: 30. (98/14254-2, 09/00898-1, 09/03341-8)
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: 3. (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. Web of Science Citations: 7. (13/08028-1, 11/17299-3)
D'ANGELO, CARLA S.; KOHL, ILANA; VARELA, MONICA CASTRO; DE CASTRO, CLAUDIA I. E.; KIM, CHONG A.; BERTOLA, DEBORA R.; LOURENCO, CHARLES M.; KOIFFMANN, CELIA P.. Extending the Phenotype of Monosomy 1p36 Syndrome and Mapping of a Critical Region for Obesity and Hyperphagia. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. 152A, n. 1, p. 102-110, JAN 2010. Web of Science Citations: 20. (98/14254-2)
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