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A

Ana Cristina Victorino Krepischi

University of São Paulo
H指数:35
被引数:4,677

个人简介

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教育背景

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工作经历

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荣誉奖项

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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

对TRRAP基因簇1031-1159区间变异的两个患者的长期随访：扩展伴有或不伴有畸形面容和自闭症的发育迟缓表型

American Journal of Medical Genetics Part A
IF1.7
2026-09-010
OA
Zechi-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
DDX3X is a Cl−-sensitive RNA helicase

DDX3X是一种对Cl−敏感的RNA解旋酶。

Science Signaling
IF6.6
2026-03-240
PRE
Ivan 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
Overexpression of SOX3 due to an X chromosome inversion leading to ovotesticular difference in sex development

由于X染色体倒位导致SOX3过表达，进而引起卵巢睾丸性发育异常。

Biology of Sex Differences
IF5.1
2026-02-120
OAAI
Carolina 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
“SHANK3 deficiency alters early progenitor dynamics and reveals shared pathways with neurodegeneration”

“SHANK3缺陷改变了早期祖细胞动力学，并揭示了与神经变性的共同途径”

Molecular Psychiatry
IF10.1
2026-01-310
OAAI
Elisa 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
Understanding rare variant contributions to autism: lessons from dystrophin-deficient model

理解罕见变异对自闭症的贡献：肌营养不良蛋白缺乏模型的启示

NPJ GENOMIC MEDICINE
IF4.8
2025-03-060
OA
Costa, 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
Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders

综合征性小头畸形伴神经发育障碍的巴西患者临床特征及潜在遗传发现

Molecular Neurobiology
IF4.3
2024-01-050
PRE
Giovanna Cantini Tolezano; Giovanna Civitate Bastos; Silvia Souza da Costa; Marília de Oliveira Scliar; Carolina Fischinger Moura de Souza; Hélio Van Der Linden Jr; Walter Luiz Magalhães Fernandes; Paulo Alberto Otto; Angela M. Vianna-Morgante; Luciana Amaral Haddad; Rachel Sayuri Honjo; Guilherme Lopes Yamamoto; Chong Ae Kim; Carla Rosenberg; Alexander Augusto de Lima Jorge; Débora Romeo Bertola; Ana Cristina Victorino Krepischi
Expanding the Phenotype of 8p23.1 Deletion Syndrome: Eight New Cases Resembling the Clinical Spectrum of 22q11.2 Microdeletion
JOURNAL OF PEDIATRICS
IF3.5
2023-01-012
PRE
Montenegro, 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
Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
IF2.8
2022-12-114
PRE
Tolezano, 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
Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil
SCIENTIFIC REPORTS
IF3.9
2022-09-0710
OAAI
Krepischi, 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

研究方向

暂未获取到该数据
C
Carla Rosenberg
H 指数:47论文数:294被引数:1.1万
D
Dirce Maria Carraro
H 指数:46论文数:425被引数:7,912
M
Maria Isabel Achatz
H 指数:36论文数:271被引数:6,178
S
Silvia Souza da Costa
H 指数:23论文数:118被引数:1,882
M
Mariana Maschietto
H 指数:24论文数:109被引数:1,714
A
Angela Maria Vianna‐Morgante
H 指数:35论文数:222被引数:4,634
C
Cecília Maria Lima da Costa
H 指数:15论文数:67被引数:712
T
Tatiane Cristina Rodrigues
H 指数:9论文数:35被引数:309
P
P. Pearson
H 指数:63论文数:443被引数:1.4万
C
Chong Ae Kim
H 指数:66论文数:538被引数:1.9万