Claudia M. B. Carvalho

pacific northwest research institute

0H指数

2论文数

0被引数

收录论文 2

发表时间

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

2026-02-12

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

GREGoR: accelerating genomics for rare diseases GREGoR：加速罕见病基因组学研究

Nature

IF48.5

2025-11-12

PREAI

Moez Dawood; Ben Heavner; Marsha M. Wheeler; Rachel A. Ungar; Jonathan LoTempio; Laurens Wiel; Seth Berger; Jonathan A. Bernstein; Jessica X. Chong; Emmanuèle C. Délot; Evan E. Eichler; James R. Lupski; Ali Shojaie; Michael E. Talkowski; Alex H. Wagner; Chia-Lin Wei; Christopher Wellington; Matthew T. Wheeler; Claudia M. B. Carvalho; Richard A. Gibbs; Casey A. Gifford; Susanne May; Danny E. Miller; Heidi L. Rehm; Kaitlin E. Samocha; Fritz J. Sedlazeck; Eric Vilain; Anne O’Donnell-Luria; Jennifer E. Posey; Lisa H. Chadwick; Michael J. Bamshad; Stephen B. Montgomery

研究方向