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 ( May,2019), which were cited ~ 10931 times (average 34 per paper). H index = 51, (web of knowledge); H=66, (Google Scholar, 17936 citations ) May 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)
- Aging and genetic disorders: genomics and metagenomics, AP.TEM
Abstract
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...
- CEGH-CEL - Human Genome and Stem Cell Research Center, AP.CEPID
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 t...
- Genetics of complex disorders: from epidemiology to stem-cells models of reproductive ageing, AV.EXT
Abstract
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 count...
- Stem cells in human genetic diseases - CETGEN, AP.TEM
Abstract
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 t...
- Carla Rosenberg | Leiden University Medical Center - Holanda, AV.EXT
(Only some records are available in English at this moment)
- Development of tissue bioengineering techniques for the functional reconstruction of ex vivo iPSC cell livers, BP.PD
Abstract
The liver is an important organ with several essential functions for keeping the hysiological homeostasis. Currently, the liver transplantation is an alternative therapy to patients with irreversible hepatic injuries. This process is complex due limited available donors, as well as the difficulty of immunological compatibility. Considering the stem-cells differentiation abilities toward...
- Alternative approaches targeting Duchenne Muscular Dystrophy treatment, BP.PD
Abstract
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 fr...
- What is the role of IMPA1 enzyme in Familial Intellectual Disability?, BP.PD
Abstract
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% o...
- Search for "protective" modifying variants/mechanisms in asymptomatic or very mildly affected individuals with pathogenic mutation in SPAST gene, BP.PD
Abstract
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...
- Functional evaluation of the hepatocytes-like role onto the maturation process of human hepatoblast-like cells in vitro, BP.IC
Abstract
The liver is a highlight organ on the organism homeostasis maintenance. Several pathologies attack hepatic function in such way that the only alternative to the patient would be the appeal to organ transplantation. Despite all opposition, this process demonstrates low success due questions as the donated organs conditions, the limited number of available donors and the post-operational ...
- Functional study of genes associated with intelectual disability (MED23 and MED25) in human in vitro model, BP.IC
Abstract
A part of the population from Brazil Northeastern region is relatively isolated geographically and keeps, for generations, the tradition of consanguineous marriages. These two factors together (geographic isolation and inbreeding) increase the risk of children born with autosomal recessive disorders such as Intellectual Disability (ID). In a prospective study in Brazil Northeastern back...
(Only some records are available in English at this moment)
- Understanding the role of IMPA1 mutation in hippocampal neurons derived from patients with Familial Intellectual Disability, BE.EP.PD
Abstract
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 ...
*Updated May 18, 2019
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.(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 | 106 |
| Citations | 867 |
| Cit./Article | 8.2 |
| 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, 2016. 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, JUN 2008. 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, MAY-JUN 2009. 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, OCT 2010. 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, JUL-SEP 2018. 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, SEP 2016. Web of Science Citations: 3. (13/08028-1, 15/18961-2)
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)
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, JAN 2 2014. Web of Science Citations: 18. (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, SEP 21 2012. Web of Science Citations: 28. (98/14254-2)
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, MAR 19 2012. Web of Science Citations: 2. (98/14254-2)
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. (13/08028-1)
GONCALVES DA SILVA, PATRICIA BENITES; RODINI, CAROLINA OLIVEIRA; KAID, CAROLINI; NAKAHATA, ADRIANA MITI; LEITE PEREIRA, MARCIA CRISTINA; MATUSHITA, HAMILTON; DA COSTA, SILVIA SOUZA; OKAMOTO, OSWALDO KEITH. Establishment of a novel human medulloblastoma cell line characterized by highly aggressive stem-like cells. Cytotechnology, v. 68, n. 4, p. 1545-1560, AUG 2016. Web of Science Citations: 2. (10/52686-5, 13/08028-1)
REILY ROCHA, CLARISSA RIBEIRO; KAJITANI, GUSTAVO SATORU; QUINET, ANNABEL; FORTUNATO, RODRIGO SOARES; MARTINS MENCK, CARLOS FREDERICO. NRF2 and glutathione are key resistance mediators to temozolomide in glioma and melanoma cells. ONCOTARGET, v. 7, n. 30, p. 48081-48092, JUL 26 2016. Web of Science Citations: 22. (14/15982-6, 13/08028-1)
RIBEIRO, ALINE LOPES; KAID, CAROLINI; SILVA, PATRICIA B. G.; CORTEZ, BEATRIZ A.; OKAMOTO, OSWALDO KEITH. Inhibition of Lysyl Oxidases Impairs Migration and Angiogenic Properties of Tumor-Associated Pericytes. STEM CELLS INTERNATIONAL, 2017. Web of Science Citations: 6. (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, MAY 2017. Web of Science Citations: 3. (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: 16. (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. (09/00898-1, 10/15503-0, 13/08028-1)
MUNFORD, V.; CASTRO, L. P.; SOUTO, R.; LERNER, L. K.; VILAR, J. B.; QUAYLE, C.; ASIF, H.; SCHUCH, A. P.; DE SOUZA, T. A.; IENNE, S.; et al. A genetic cluster of patients with variant xeroderma pigmentosum with two different founder mutations. British Journal of Dermatology, v. 176, n. 5, p. 1270-1278, MAY 2017. 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, JUN 15 2017. 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, JUN 2017. Web of Science Citations: 40. (14/15982-6, 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, 2015. Web of Science Citations: 8. (98/14254-2)
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, SEP 2017. Web of Science Citations: 0. (08/57899-7, 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, JAN-MAR 2018. 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, 2018. Web of Science Citations: 2. (13/03236-5, 13/08028-1, 15/26980-7, 09/00898-1)
GUIMARAES MARQUES, MARCIA J.; REYES-GARCIA, SELVIN Z.; MARQUES-CARNEIRO, JOSE E.; LOPES-SILVA, LEONARDO B.; ANDERSEN, MONICA L.; CAVALHEIRO, ESPER A.; SCORZA, FULVIO A.; SCORZA, CARLA A.. Long-term Potentiation Decay and Poor Long-lasting Memory Process in the Wild Rodents Proechimys from Brazil's Amazon Rainforest. FRONTIERS IN BEHAVIORAL NEUROSCIENCE, v. 12, JAN 23 2018. Web of Science Citations: 2. (13/08028-1)
WHITE, JANSON J.; MAZZEU, JULIANA F.; COBAN-AKDEMIR, ZEYNEP; BAYRAM, YAVUZ; BAHRAMBEIGI, VAHID; HOISCHEN, ALEXANDER; VAN BON, BREGJE W. M.; GEZDIRICI, ALPER; GULEC, ELIF YILMAZ; RAMOND, FRANCIS; et al. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. American Journal of Human Genetics, v. 102, n. 1, p. 27-43, JAN 4 2018. Web of Science Citations: 12. (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: 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, JUL 2017. 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, JUL 2017. Web of Science Citations: 25. (98/14254-2, 13/08028-1, 11/17428-8, 08/57899-7)
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. (12/18010-0, 12/09950-9, 13/08028-1)
GOMES, LUCIANA R.; VESSONI, ALEXANDRE T.; MENCK, CARLOS F. M.. Microenvironment and autophagy cross-talk: Implications in cancer therapy. PHARMACOLOGICAL RESEARCH, v. 107, p. 300-307, MAY 2016. Web of Science Citations: 17. (14/15982-6, 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, NOV 19 2015. Web of Science Citations: 51. (13/08028-1)
FONSECA, ANA CAROLINA S.; BONALDI, ADRIANO; FONSECA, SIMONE A. S.; OTTO, PAULO A.; KOK, FERNANDO; BAK, MADS; TOMMERUP, NIELS; VIANNA-MORGANTE, ANGELA M.. The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation. MOLECULAR CYTOGENETICS, v. 8, DEC 30 2015. Web of Science Citations: 2. (13/01146-9, 13/08028-1, 11/14293-4)
MEHRJOUY, MANA M.; FONSECA, ANA CAROLINA S.; EHMKE, NADJA; PASKULIN, GIORGIO; NOVELLI, ANTONIO; BENEDICENTI, FRANCESCO; MENCARELLI, MARIA ANTONIETTA; RENIERI, ALESSANDRA; BUSA, TIFFANY; MISSIRIAN, CHANTAL; et al. Regulatory variants of FOXG1 in the context of its topological domain organisation. European Journal of Human Genetics, v. 26, n. 2, p. 186-196, FEB 2018. 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, APR 25 2018. Web of Science Citations: 0. (13/08028-1, 15/21781-6)
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: 2. (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: 6. (14/03620-2, 13/08028-1, 14/50931-3)
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: 2. (13/08028-1, 17/16283-2, 15/14821-1, 14/08049-1)
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: 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, NOV 2017. Web of Science Citations: 10. (14/15982-6, 13/08028-1)
NUNES, BRUNO GHIROTTO; LOURES, FLAVIO VIEIRA; SIQUEIRA BUENO, HELOISA MARIA; CANGUSSU, ERICA BARONI; GOULART, ERNESTO; COATTI, GIULIANA CASTELLO; CALDINI, ELIA GARCIA; CONDINO-NETO, ANTONIO; ZATZ, MAYANA. Immunoglobulin therapy ameliorates the phenotype and increases lifespan in the severely affected dystrophin-utrophin double knockout mice. European Journal of Human Genetics, v. 25, n. 12, p. 1388-1396, DEC 2017. 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, DEC 2017. Web of Science Citations: 0. (13/08028-1, 14/17132-0)
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