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A

Ana Cristina Victorino Krepischi

universidade de sao paulo

35H-index
281Paper Count
4.7KCitation Count
Published Papers 69
Publication Date
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Long-Term Follow Up of Two Patients With Variants in the Cluster 1031-1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism
errAmerican Journal of Medical Genetics Part A
IF1.7
err2026-09-01
err0
PREAI
errZechi-Ceide, Roseli Maria; Segarra, Vinicius Contrucci Dantas; Vendramini-Pittoli, Siulan; Serigatto, Henrique Regonaschi; Virmond, Luiza; Palhares, Heloisa Marcelina da Cunha; Jehee, Fernanda; Krepischi, Ana Cristina Victorino; Rosenberg, Carla; Grangeiro, Carlos Henrique Paiva; Kokitsu-Nakata, Nancy Mizue
errShare
errSave
DDX3X is a Cl−-sensitive RNA helicase
errScience Signaling
IF6.6
err2026-03-24
err0
PREAI
errIvan Rosa e Silva; Paula F. V. do Prado; Felipe Z. Benevenutti; Renata R. de Oliveira; Aline R. Passos; Camila Canateli; Isabelly G. Messias; Daniel M. Trindade; Leandro O. Bortot; João V. S. Guerra; Thaís Hancio; Mauricio L. Sforça; Andrey F. Z. Nascimento; Gustavo F. Mercaldi; José G. C. Pereira; Matheus C. Fonseca; Paulo S. L. de Oliveira; Murilo de Carvalho; Juliana H. C. Smetana; Ana C. V. Krepischi; Kleber G. Franchini; Juliana F. de Oliveira
errShare
errSave
Overexpression of SOX3 due to an X chromosome inversion leading to ovotesticular difference in sex development
errBiology of Sex Differences
IF5.1
err2026-02-12
err0
errOAAI
errCarolina Gama Nascimento-Vidoti; Helena Fabbri-Scallet; Mara Sanches Guaragna; Melissa Bittencourt de Wallau; Vanessa Sodré de Souza; Silvia Souza da Costa; Ana Cristina Victorino Krepischi; Juliana Forte Mazzeu; Claudia M. B. Carvalho; Andréa Trevas Maciel-Guerra; Gil Guerra-Júnior; Társis Paiva Vieira
errShare
errSave
“SHANK3 deficiency alters early progenitor dynamics and reveals shared pathways with neurodegeneration”
errMolecular Psychiatry
IF10.1
err2026-01-31
err0
errOAAI
errElisa Varella-Branco; Elizabeth Shephard; Victor H. C. Toledo; Igor C. Ramos; Ellen C. M. Lacerda; Laura L. M. Carvalho; Marcella A. Fiuza; Mayara Paschalidis; Claudia I. S. Costa; Ana C. S. Girardi; Ana C. V. Krepischi; Erasmo B. Casella; Guilherme Polanczyk; Karina Griesi-Oliveira; Fabio Papes; Lucas Alvizi; Gerson S. Kobayashi; Maria Rita dos Santos e Passos Bueno
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errSave
Differential methylation in blood pressure control genes is associated to essential hypertension in African Brazilian populations
errEPIGENETICS
IF3.2
err2025-03-27
err0
errOAAI
errCamila Cristina Avila Martins; Mariana Maschietto; Lilian Kimura; Lucas Alvizi; Kelly Nunes; Vinícius Magalhães Borges; Ana Cristina Victorino Krepischi; Regina Célia Mingroni-Netto
errShare
errSave
Understanding rare variant contributions to autism: lessons from dystrophin-deficient model
errNPJ GENOMIC MEDICINE
IF4.8
err2025-03-06
err0
errOAAI
errCosta, Claudia Ismania Samogy; Madanelo, Luciana; Wang, Jaqueline Yu Ting; Campos, Gabriele da Silva; Girardi, Ana Cristina De Sanctis; Scliar, Marilia; Monfardini, Frederico; Pavanello, Rita de Cassia Mingroni; Coria, Vivian Romanholi; Vibranovski, Maria Dulcetti; Krepischi, Ana Cristina; Lourenco, Naila Cristina Vilaca; Zatz, Mayana; Yamamoto, Guilherme Lopes; Zachi, Elaine Cristina; Passos-Bueno, Maria Rita
errShare
errSave
Distinct copy number signatures between residual benign and transformed areas of carcinoma ex pleomorphic adenoma
errSCIENTIFIC REPORTS
IF3.9
err2024-10-09
err1
errOAAI
errScarini, Joao Figueira; Sabino, Wellington Lima; de Lima-Souza, Reydson Alcides; Abu Egal, Erika Said; Tincani, Alfio Jose; Gondak, Rogerio; Kowalski, Luiz Paulo; Krepischi, Ana Cristina Victorino; Altemani, Albina; Mariano, Fernanda Viviane
errShare
errSave
The genetic etiology is a relevant cause of central precocious puberty
errEUROPEAN JOURNAL OF ENDOCRINOLOGY
IF5.2
err2024-06-10
err3
PREAI
errCanton, Ana Pinheiro Machado; Seraphim, Carlos Eduardo; Montenegro, Luciana Ribeiro; Krepischi, Ana Cristina Victorino; Mendonca, Berenice Bilharinho; Latronico, Ana Claudia; Brito, Vinicius Nahime
errShare
errSave
Exome Sequencing Identifies Multiple Genetic Diagnoses in Children with Syndromic Growth Disorders
errJOURNAL OF PEDIATRICS
IF3.5
err2024-02-01
err1
PREAI
errRezende, Raissa Carneiro; de Andrade, Nathalia Liberatoscioli Menezes; Dantas, Naiara Castelo Branco; Cellin, Laurana de Polli; Krepischi, Ana Cristina Victorino; Lerario, Antonio Marcondes; Jorge, Alexander Augusto de Lima
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errSave
A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis
errCURRENT OBESITY REPORTS
IF11
err2024-01-26
err2
PREAI
errCarvalho, Laura Machado Lara; Jorge, Alexander Augusto de Lima; Bertola, Debora Romeo; Krepischi, Ana Cristina Victorino; Rosenberg, Carla
errShare
errSave
Germline mutations in cancer predisposition genes among pediatric patients with cancer and congenital anomalies
errPEDIATRIC RESEARCH
IF3.1
err2024-01-05
err2
PREAI
errDangoni, Gustavo D.; Teixeira, Anne Caroline B.; da Costa, Silvia S.; Scliar, Marilia O.; Carvalho, Laura M. L.; Silva, Luciana N.; Novak, Estela M.; Vince, Carolina S. C.; Maschietto, Mariana C.; Sugayama, Sofia M. M.; Odone-Filho, Vicente; Krepischi, Ana Cristina V.
errShare
errSave
Functional assessment of donated human embryos for the generation of pluripotent embryonic stem cell lines
errREPRODUCTIVE BIOMEDICINE ONLINE
IF3.5
err2023-03-01
err0
PREAI
errCeschin, Ianae I.; Ceschin, Alvaro P.; Joya, Maria S.; Mitsugi, Thiago G.; Nishikawa, Lucileine K.; Krepischi, Ana C., V; Okamoto, Oswaldo K.
errShare
errSave
SMC6 down-regulation: marker of genetic instability and poor outcome in breast cancer
errCANCER RESEARCH
IF16.6
err2023-03-01
err0
PREAI
errMangone, Flavia R. Rotea; Krepischi, Ana Cristina V.; Carraro, Dirce M.; Nagai, Maria A.
errShare
errSave
SIN3A defects associated with syndromic congenital hypogonadotropic hypogonadism: an overlap with Witteveen-Kolk syndrome
errNEUROENDOCRINOLOGY
IF2.8
err2023-02-09
err4
PREAI
errSchnoll, Caroline; Krepischi, Ana Cristina Victorino; Renck, Alessandra Covallero; Amato, Lorena Guimaraes Lima; Kulikowski, Leslie Domenici; Dantas, Naiara Castelo Branco; Costa, Elaine Maria Frade; Mendonca, Berenice Bilharinho; Latronico, Ana Claudia; Jorge, Alexander Augusto de Lima; Silveira, Leticia Ferreira Gontijo
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errSave
Expanding the Phenotype of 8p23.1 Deletion Syndrome: Eight New Cases Resembling the Clinical Spectrum of 22q11.2 Microdeletion
errJOURNAL OF PEDIATRICS
IF3.5
err2023-01-01
err2
PREAI
errMontenegro, Marilia Moreira; Camilotti, Debora; Quaio, Caio Robledo D'Anglioli Costa; Gasparini, Yanca; Zanardo, Evelin Aline; Rangel-Santos, Andreia; Novo-Filho, Gil Monteiro; Francisco, Gleyson; Liro, Lucas; Nascimento, Amom; Chehimi, Samar Nasser; Soares, Diogo Cordeiro Queiroz; Krepischi, Ana C. V.; Grassi, Marcilia Sierro; Honjo, Rachel Sayuri; Palmeira, Patricia; Kim, Chong Ae; Carneiro-Sampaio, Magda Maria Sales; Rosenberg, Carla; Kulikowski, Leslie Domenici
errShare
errSave
Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature
errJOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
IF2.8
err2022-12-11
err4
PREAI
errTolezano, Giovanna Cantini; Bastos, Giovanna Civitate; da Costa, Silvia Souza; Freire, Bruna Lucheze; Homma, Thais Kataoka; Honjo, Rachel Sayuri; Yamamoto, Guilherme Lopes; Passos-Bueno, Maria Rita; Koiffmann, Celia Priszkulnik; Kim, Chong Ae; Vianna-Morgante, Angela Maria; Jorge, Alexander Augusto de Lima; Bertola, Debora Romeo; Rosenberg, Carla; Krepischi, Ana Cristina Victorino
errShare
errSave
High-Resolution Magic-Angle-Spinning NMR in Revealing Hepatoblastoma Hallmarks
errBIOMEDICINES
IF3.9
err2022-12-01
err4
errOAAI
errTasic, Ljubica; Avramovic, Natasa; Jadranin, Milka; Quintero, Melissa; Stanisic, Danijela; Martins, Lucas G. G.; Costa, Tassia Brena Barroso Carneiro; Novak, Estela; Odone, Vicente; Rivas, Maria; Aguiar, Talita; Carraro, Dirce Maria; da Cunha, Isabela Werneck; da Costa, Cecilia Maria Lima; Maschietto, Mariana; Krepischi, Ana
errShare
errSave
Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil
errSCIENTIFIC REPORTS
IF3.9
err2022-09-07
err10
errOAAI
errKrepischi, Ana C., V; Villela, Darine; da Costa, Silvia Souza; Mazzonetto, Patricia C.; Migliavacca, Michele P.; Milanezi, Fernanda; Santos, Juliana G.; Guarischi-Sousa, Rodrigo; Campana, Gustavo; Kok, Fernando; Schlesinger, David; Kitajima, Joao Paulo; Campagnari, Francine; Bertola, Debora R.; Vianna-Morgante, Angela M.; Pearson, Peter L.; Rosenberg, Carla
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errSave
Preclinical Evaluation of the Tumorigenic and Immunomodulatory Properties of Human Bone Marrow Mesenchymal Stromal Cell Populations with Clonal Trisomy 5
errSTEM CELLS INTERNATIONAL
IF3.3
err2022-08-19
err3
errOAAI
errMarodin, Maria Susana Joya; Godoy, Juliana A.; Alves-Paiva, Raquel M.; Alvarez, Kelen; Mitsugi, Thiago Giove; Krepischi, Ana Cristina Victorino; Hamerschlak, Nelson; Bortolini, Maria Augusta Tezelli; Castro, Rodrigo; Kondo, Andrea T.; Kutner, Jose Mauro; Okamoto, Oswaldo Keith
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errSave
New evidences of genetic heterogeneity of causing hereditary gingival fibromatosis and ALK and CD36 as new candidate genes
errJOURNAL OF PERIODONTOLOGY
IF3.8
err2022-07-01
err5
PREAI
errMachado, Renato Assis; de Andrade, Rodrigo Soares; Pego, Sabina Pena Borges; Victorino Krepischi, Ana Cristina; Coletta, Ricardo D.; Martelli-Junior, Hercilio
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errSave

Research Directions

No research directions
Co-authors
Cooperation Journals
E
Evan E. Eichler
H-index: 191 · Papers: 864
A
Andrew J. Lees
H-index: 165 · Papers: 1.2K
J
James R. Lupski
H-index: 144 · Papers: 1.1K
C
Charles Lee
H-index: 133 · Papers: 705
N
Nicholas Katsanis
H-index: 111 · Papers: 480
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