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Mayana Zatz

CV Lattes

Universidade de São Paulo (USP). Instituto de Biociências (IB)  (Institutional affiliation for the last research proposal)
Birthplace: Israel

Is Professor of Human and Medical Genetics. Director of the Human Genome Research Center (Hug-cell) and Institute of stem -cells in genetic disorders, 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. 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 is investigating zika and cancer. Has published 315 peer-reviewed papers ( January,2019), which were cited ~ 10806 times (average 33 per paper). H index = 51, (web of knowledge); H=65, (Google Scholar, 17630 citations ) January 2019. Has been the mentor of undergraduate and graduate students who presented 50 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. Was columnist of the weekly magazine VEJA having written more than 250 articles for lay people. Is author of the book Gen ÉTICA. From 2010 to 2012 was part of the board of revisors (BORE) of scientific journal Science. 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. (Source: Lattes Curriculum)

Research grants
Scholarships in Brazil
Scholarships abroad
FAPESP support in numbers*
*Updated March 23, 2019
Most frequent collaborators in research granted by FAPESP
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Use this Research Supported by FAPESP (BV/FAPESP) channel only to send messages referring to FAPESP-funded scientific projects.





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Videos related to Research Grants and Scholarships

How to be a healthy centenarian?

Published by Agência FAPESP - February 11, 2019. The human population is aging rapidly throughout the world. The challenge is to increase healthspan not only lifespan. I will discuss briefly how new technologies will contribute to improve our health while we are aging. What are we learning from centenarians? Is there a limit for longevity? What we are currently investigating in the human genome and stem-cell center at the University of São Paulo?Mayana Zatz | FAPESP Week London.
Scientific publications resulting from Research Grants and Scholarships under the grantee's responsibility (107)

(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)

Data from Web of Science

BARBOZA, JR., L. C. M.; LEZIROVITZ, K.; ZANATTA, D. B.; STRAUSS, B. E.; MINGRONI-NETTO, R. C.; OITICICA, J.; HADDAD, L. A.; BENTO, R. F.. Transplantation and survival of mouse inner ear progenitor/stem cells in the organ of Corti after cochleostomy of hearing-impaired guinea pigs: preliminary results. Brazilian Journal of Medical and Biological Research, v. 49, n. 4, . Web of Science Citations: 1. (98/14254-2, 09/09473-3)

YEH, E.; KIMURA, L.; ERRERA, F. I. V.; ANGELI, C. B.; MINGRONI-NETTO, R. C.; SILVA, M. E. R.; CANANI, L. H. S.; PASSOS-BUENO, M. R.. Association of polymorphisms at the ADIPOR1 regulatory region with type 2 diabetes and body mass index in a Brazilian population with European or African ancestry. Brazilian Journal of Medical and Biological Research, v. 41, n. 6, p. 468-472, . Web of Science Citations: 3. (98/14254-2)

GAIAD, T. P.; MIGLINO, M. A.; ZATZ, M.; HAMLETT, W. C.; AMBROSIO, C. E.. Effect of physical therapy on joint range of motion and muscle collagen deposition in the golden retriever muscular dystrophy (GRMD) model. BRAZILIAN JOURNAL OF PHYSICAL THERAPY, v. 13, n. 3, p. 244-251, . Web of Science Citations: 1. (98/14254-2)

CAPELLI, LEONARDO PIRES; RODRIGUES GONCALVES, MARCIA RUBIA; LEITE, CLAUDIA C.; BARBOSA, EGBERTO R.; NITRINI, RICARDO; VIANNA-MORGANTE, ANGELA M.. The fragile x-associated tremor and ataxia syndrome (FXTAS). Arquivos de Neuro-Psiquiatria, v. 68, n. 5, p. 791-798, . Web of Science Citations: 7. (98/14254-2)

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, . Web of Science Citations: 0. (13/08028-1, 13/14996-0, 15/11998-8)

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, . Web of Science Citations: 3. (13/08028-1, 15/18961-2)

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, . Web of Science Citations: 29. (98/14254-2, 09/00898-1, 09/03341-8)

VICTORINO KREPISCHI, ANA CRISTINA; KNIJNENBURG, JEROEN; BERTOLA, DEBORA ROMEO; KIM, CHONG AE; PEARSON, PETER LEES; BIJLSMA, EMILIA; SZUHAI, KAROLY; KOK, FERNANDO; VIANNA-MORGANTE, ANGELA MARIA; ROSENBERG, CARLA. Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy. Epilepsia, v. 51, n. 12, p. 2457-2460, . Web of Science Citations: 29. (98/14254-2, 09/00898-1)

D'ANGELO, CARLA S.; GAJECKA, MARZENA; KIM, CHONG A.; GENTLES, ANDREW J.; GLOTZBACH, CARON D.; SHAFFER, LISA G.; KOIFFMANN, CELIA P.. Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements. Human Genetics, v. 125, n. 5-6, p. 551-563, . Web of Science Citations: 19. (98/14254-2)

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, . Web of Science Citations: 2. (12/10071-0, 09/00898-1, 12/51799-6, 13/08028-1)

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, . Web of Science Citations: 8. (09/00898-1, 10/15503-0, 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, . Web of Science Citations: 12. (13/08028-1, 12/18010-0, 12/09950-9)

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, . Web of Science Citations: 15. (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, . Web of Science Citations: 11. (08/57899-7, 13/08028-1)

YAMAMOTO, GUILHERME LOPES; AGUENA, MEIRE; GOS, MONIKA; HUNG, CHRISTINA; PILCH, JACEK; FAHIMINIYA, SOMAYYEH; ABRAMOWICZ, ANNA; CRISTIAN, INGRID; BUSCARILLI, MICHELLE; NASLAVSKY, MICHEL SATYA; et al. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. JOURNAL OF MEDICAL GENETICS, v. 52, n. 6, p. 413-421, . Web of Science Citations: 52. (11/17299-3, 98/14254-2)

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, . Web of Science Citations: 11. (08/57899-7, 13/08028-1)

D'ANGELO, CARLA S.; VARELA, MONICA C.; DE CASTRO, CLAUDIA I. E.; KIM, CHONG A.; BERTOLA, DEBORA R.; LOURENCO, CHARLES M.; PEREZ, ANA BEATRIZ A.; KOIFFMANN, CELIA P.. Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes. MOLECULAR CYTOGENETICS, v. 7, . Web of Science Citations: 3. (98/14254-2)

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, . Web of Science Citations: 5. (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, . Web of Science Citations: 3. (10/52686-5, 13/17566-7, 13/08028-1, 11/51588-2, 11/10001-9)

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, . Web of Science Citations: 20. (98/14254-2)


DANTAS, VITOR G. L.; FREITAS, ERIKA L.; DELLA-ROSA, VALTER A.; LEZIROVITZ, KARINA; DE MORAES, ANA MARIA S. M.; RAMOS, SILVIA B.; OITICICA, JEANNE; ALVES, LEANDRO U.; PEARSON, PETER L.; ROSENBERG, CARLA; et al. Novel partial duplication of EYA1 causes branchiootic syndrome in a large Brazilian family. INTERNATIONAL JOURNAL OF AUDIOLOGY, v. 54, n. 9, p. 593-598, . Web of Science Citations: 1. (09/00898-1, 09/05620-1, 98/14254-2)

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, . Web of Science Citations: 22. (13/08028-1, 14/10519-6, 13/17566-7, 13/02983-1, 11/10001-9, 10/52686-5)

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; 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, . Web of Science Citations: 16. (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, . Web of Science Citations: 4. (98/14254-2, 13/08028-1)


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, . Web of Science Citations: 17. (98/14254-2)

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, . Web of Science Citations: 2. (09/02058-0, 08/57887-9, 09/00898-1, 13/08028-1)

FONSECA, A. C. S.; BONALDI, A.; COSTA, S. S.; FREITAS, M. R.; KOK, F.; VIANNA-MORGANTE, A. M.. PLP1 duplication at the breakpoint regions of an apparently balanced t(X;22) translocation causes Pelizaeus-Merzbacher disease in a girl. Clinical Genetics, v. 83, n. 2, p. 169-174, . Web of Science Citations: 6. (09/03480-8, 98/14254-2, 09/00898-1)

ZABEU ROSSI COSTA, HELOISA JULIANA; BENTO, RICARDO FERREIRA; SALOMONE, RAQUEL; AZZI-NOGUEIRA, DEBORAH; ZANATTA, DANIELA B.; COSTA, MARCIO PAULINO; DA SILVA, CIRO FERREIRA; STRAUSS, BRYAN E.; HADDAD, LUCIANA A.. Mesenchymal bone marrow stem cells within polyglycolic acid tube observed in vivo after six weeks enhance facial nerve regeneration. Brain Research, v. 1510, p. 10-21, . Web of Science Citations: 24. (98/14254-2, 08/00972-4, 08/00584-4)

AZEVEDO, NATHALIA F.; SVARTMAN, MARTA; MANCHESTER, ANDREA; DE MORAES-BARROS, NADIA; STANYON, ROSCOE; VIANNA-MORGANTE, ANGELA M.. Chromosome painting in three-toed sloths: a cytogenetic signature and ancestral karyotype for Xenarthra. BMC Evolutionary Biology, v. 12, . Web of Science Citations: 2. (98/14254-2)

CAPELLI, LEONARDO P.; KREPISCHI, C. V.; GURGEL-GIANNETTI, JULIANA; MENDES, MIRIAN FABIOLA S.; RODRIGUES, TATIANE; VARELA, MONICA C.; KOIFFMANN, CELIA P.; ROSENBERG, CARLA. Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency. EUROPEAN JOURNAL OF MEDICAL GENETICS, v. 55, n. 2, p. 132-134, . Web of Science Citations: 21. (98/14254-2, 09/00898-1)

KERKIS, IRINA; AMBROSIO, CARLOS E.; KERKIS, ALEXANDRE; MARTINS, DANIELE S.; ZUCCONI, EDER; FONSECA, SIMONE A. S.; CABRAL, ROSA M.; MARANDUBA, CARLOS M. C.; GAIAD, THAIS P.; MORINI, ADRIANA C.; et al. Early transplantation of human immature dental pulp stem cells from baby teeth to golden retriever muscular dystrophy (GRMD) dogs: Local or systemic?. JOURNAL OF TRANSLATIONAL MEDICINE, v. 6, . Web of Science Citations: 97. (98/14254-2)

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, . Web of Science Citations: 1. (13/08028-1, 11/05534-8, 13/17566-7, 13/02983-1, 11/10001-9, 10/52686-5, 11/51588-2)

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, . Web of Science Citations: 3. (98/14254-2, 12/18010-0, 13/08028-1, 12/09950-9)

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, . Web of Science Citations: 6. (13/08028-1, 12/15495-2)

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, . Web of Science Citations: 14. (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, . Web of Science Citations: 1. (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, . Web of Science Citations: 6. (14/15982-6, 13/08028-1)

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, . Web of Science Citations: 3. (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, . Web of Science Citations: 35. (14/15982-6, 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, . Web of Science Citations: 3. (11/17299-3, 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, . Web of Science Citations: 4. (14/15982-6, 12/12663-1, 13/07937-8, 13/08028-1)

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, . Web of Science Citations: 23. (98/14254-2, 13/08028-1, 11/17428-8, 08/57899-7)

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, . Web of Science Citations: 1. (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, . Web of Science Citations: 8. (13/08028-1)

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, . Web of Science Citations: 0. (13/08028-1)

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, . Web of Science Citations: 2. (13/03236-5, 13/08028-1, 15/26980-7, 09/00898-1)

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, . Web of Science Citations: 8. (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, . Web of Science Citations: 2. (98/14254-2, 09/00898-1)

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, . Web of Science Citations: 1. (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, . Web of Science Citations: 0. (13/01146-9, 13/08028-1, 11/14293-4)

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, . Web of Science Citations: 0. (13/08028-1, 15/21781-6)

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, . Web of Science Citations: 1. (14/06457-5, 12/01115-3, 13/08028-1, 12/51299-3, 14/26818-2)

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, . Web of Science Citations: 0. (08/57899-7, 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. 815-823, . Web of Science Citations: 6. (13/08028-1, 15/21783-9)

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, . Web of Science Citations: 1. (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, . Web of Science Citations: 1. (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, . Web of Science Citations: 2. (10/52686-5, 13/08028-1)

D'ANGELO, CARLA S.; MOLLER DOS SANTOS, MAUREN F.; ALONSO, LUIS G.; KOIFFMANN, CELIA P.. Two New Cases of 1p21.3 Deletions and an Unbalanced Translocation t(8;12) among Individuals with Syndromic Obesity. MOLECULAR SYNDROMOLOGY, v. 6, n. 2, p. 63-70, . Web of Science Citations: 8. (98/14254-2)

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, . Web of Science Citations: 18. (14/15982-6, 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, . Web of Science Citations: 5. (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, . Web of Science Citations: 4. (13/08028-1)

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, . Web of Science Citations: 2. (13/08028-1)

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, . Web of Science Citations: 51. (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, . Web of Science Citations: 0. (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, . Web of Science Citations: 2. (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, . Web of Science Citations: 3. (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, . Web of Science Citations: 4. (06/00054-0, 11/24007-9, 09/00898-1, 13/08028-1)

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, . Web of Science Citations: 2. (12/18010-0, 12/09950-9, 13/08028-1)

YAMAMOTO, GUILHERME L.; BARATELA, WAGNER A. R.; ALMEIDA, TATIANA F.; LAZAR, MONIZE; AFONSO, CLARA L.; OYAMADA, MARIA K.; SUZUKI, LISA; OLIVEIRA, LUIZ A. N.; RAMOS, ESTER S.; KIM, CHONG A.; et al. Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy. American Journal of Human Genetics, v. 94, n. 1, p. 113-119, . Web of Science Citations: 17. (98/14254-2)

BUENO JUNIOR, CARLOS R.; PANTALEAO, LUCAS C.; VOLTARELLI, VANESSA A.; BOZI, LUIZ HENRIQUE M.; BRUM, PATRICIA CHAKUR; ZATZ, MAYANA. Combined Effect of AMPK/PPAR Agonists and Exercise Training in mdx Mice Functional Performance. PLoS One, v. 7, n. 9, . Web of Science Citations: 28. (98/14254-2)

MAZZEU‚ JF; VIANNA-MORGANTE‚ AM; KREPISCHI‚ ACV; OUDAKKER‚ A.; ROSENBERG‚ C.; SZUHAI‚ K.; MCGILL‚ J.; MACCRAUGHAN‚ J.; VAN BOKHOVEN‚ H.; BRUNNER‚ HG. Deletions encompassing 1q41q42. 1 and clinical features of autosomal dominant Robinow syndrome. Clinical Genetics, v. 77, n. 4, p. 404-407, . (98/14254-2)

ROSENBERG‚ C.; KNIJNENBURG‚ J.; CHAUFFAILLE‚ M.L.; BRUNONI‚ D.; CATELANI‚ A.L.; SLOOS‚ W.; SZUHAI‚ K.; TANKE‚ H.J.. Array CGH detection of a cryptic deletion in a complex chromosome rearrangement. Human Genetics, v. 116, n. 5, p. 390-394, . (98/14254-2)

BALESTER DE MELLO AURICCHIO‚ M.T.; VICENTE‚ J.P.; MEYER‚ D.; MINGRONI-NETTO‚ R.C.. Frequency and origins of hemoglobin S mutation in African-derived Brazilian populations. HUMAN BIOLOGY, v. 79, n. 6, p. 667-677, . (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, . Web of Science Citations: 1. (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, . Web of Science Citations: 0. (13/08028-1, 14/50931-3)

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, . Web of Science Citations: 0. (13/08028-1, 11/06434-7, 15/18961-2)

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+, . Web of Science Citations: 1. (13/08028-1, 15/06281-7, 12/50981-5)

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, . Web of Science Citations: 0. (13/08028-1, 14/18764-0)

WALKER, CHRISTOPHER P.; PESSOA, ANDRE L. S.; FIGUEIREDO, THALITA; RAFFERTY, MEGAN; MELO, UIRA S.; NOBREGA, PAULO R.; MURPHY, NICHOLAS; KOK, FERNANDO; ZATZ, MAYANA; SANTOS, SILVANA; et al. Loss-of-function mutation in inositol monophosphatase 1 (IMPA1) results in abnormal synchrony in resting-state EEG. ORPHANET JOURNAL OF RARE DISEASES, v. 14, . Web of Science Citations: 0. (16/09618-5)

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, . Web of Science Citations: 0. (13/08028-1, 11/15281-0, 11/06434-7, 11/15283-2, 17/14273-0, 15/18961-2, 11/00478-2)

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, . Web of Science Citations: 1. (13/07480-8, 09/00898-1, 13/08028-1)

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, . Web of Science Citations: 1. (14/15982-6, 12/16929-6, 13/08028-1)

ALVES NEVES, WALTER; OKUMURA, MARIA MERCEDES M.; GONZÁLEZ-JOSÉ, ROLANDO; FIGUTI, LEVY; EGGERS, SABINE; BLASIS, PAULO ANTONIO DANTAS DE; HUBBE, MARK OLIVER ROHRIG. A new early Holocene human skeleton from Brazil: implications for the settlement of the New World. Journal of Human Evolution, v. 48, n. 4, p. 403-411, . (98/14254-2, 99/00670-7, 99/12684-2)

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, . Web of Science Citations: 0. (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, . Web of Science Citations: 6. (14/03620-2, 13/08028-1, 14/50931-3)

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, . Web of Science Citations: 1. (13/08028-1, 17/16283-2, 15/14821-1, 16/09707-8, 14/08049-1)

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, . Web of Science Citations: 2. (13/08028-1)

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; 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, . Web of Science Citations: 0. (09/00898-1, 11/24007-9, 13/08028-1, 15/06281-7, 16/04785-0)

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, . Web of Science Citations: 1. (13/08028-1)

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, . Web of Science Citations: 7. (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, . Web of Science Citations: 0. (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, . Web of Science Citations: 0. (13/08028-1, 14/17132-0)

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, . Web of Science Citations: 16. (14/15982-6, 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, . Web of Science Citations: 10. (14/15982-6, 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, . Web of Science Citations: 1. (13/08028-1, 17/16283-2, 15/14821-1, 14/08049-1)

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, . Web of Science Citations: 0. (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, . Web of Science Citations: 0. (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, . Web of Science Citations: 1. (13/08028-1, 14/17132-0)


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, . Web of Science Citations: 0. (13/08028-1, 12/50981-5)

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, . Web of Science Citations: 0. (13/08028-1, 12/50981-5)

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, . 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, . Web of Science Citations: 1. (16/22318-0, 16/14517-3, 13/08028-1)

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, . Web of Science Citations: 0. (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, . Web of Science Citations: 0. (13/08028-1)

Patent applications

PROCESSO DE OBTENÇÃO DE CÉLULAS-TRONCO A PARTIR DE CÉLULAS DO MÚSCULO ORBICULAR DO LÁBIO, COMPOSIÇÕES E USOS PI0705561-7 - Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP); Universidade de São Paulo (USP). Maria Rita dos Santos e Passos Bueno; Maria Rita dos Santos e Passos Bueno; Daniela Franco Bueno; Irina Kerkis; Mayana Zatz - November 2007, 23

MÉTODO DE PROGNÓSTICO DA AGRESSIVIDADE DE TUMORES E KIT BR1020140155775 - Universidade de São Paulo (USP). Carolina de Oliveira Rodini; Gabriela Furukawa; Oswaldo Keith Okamoto; Patrícia Benites Gonçalves da Silva - June 2014, 17

Solicitação em análise e dentro do prazo legal de sigilo previsto na legislação BR1020150030169 - Universidade de São Paulo (USP). Solicitação em análise e dentro do prazo legal de sigilo previsto na legislação - February 2015, 11

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