日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

FOXI3 pathogenic variants cause one form of craniofacial microsomia

FOXI3致病变异会导致一种颅面短小症。

Ke Mao # ,Christelle Borel # ,Muhammad Ansar # ,Angad Jolly ,Periklis Makrythanasis ,Christine Froehlich ,Justyna Iwaszkiewicz ,Bingqing Wang ,Xiaopeng Xu ,Qiang Li ,Xavier Blanc ,Hao Zhu ,Qi Chen ,Fujun Jin ,Harinarayana Ankamreddy ,Sunita Singh ,Hongyuan Zhang ,Xiaogang Wang ,Peiwei Chen ,Emmanuelle Ranza ,Sohail Aziz Paracha ,Syed Fahim Shah ,Valentina Guida ,Francesca Piceci-Sparascio ,Daniela Melis ,Bruno Dallapiccola ,Maria Cristina Digilio ,Antonio Novelli ,Monia Magliozzi ,Maria Teresa Fadda ,Haley Streff ,Keren Machol ,Richard A Lewis ,Vincent Zoete ,Gabriella Maria Squeo ,Paolo Prontera ,Giorgia Mancano ,Giulia Gori ,Milena Mariani ,Angelo Selicorni ,Stavroula Psoni ,Helen Fryssira ,Sofia Douzgou ,Sandrine Marlin ,Saskia Biskup ,Alessandro De Luca ,Giuseppe Merla ,Shouqin Zhao ,Timothy C Cox ,Andrew K Groves ,James R Lupski ,Qingguo Zhang ,Yong-Biao Zhang ,Stylianos E Antonarakis

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

Mediator复合物的组成部分MED13的新生突变与一种新的神经发育障碍相关。

Lot Snijders Blok ,Susan M Hiatt ,Kevin M Bowling ,Jeremy W Prokop ,Krysta L Engel ,J Nicholas Cochran ,E Martina Bebin ,Emilia K Bijlsma ,Claudia A L Ruivenkamp ,Paulien Terhal ,Marleen E H Simon ,Rosemarie Smith ,Jane A Hurst ,Richard Person ,Amy Crunk ,Michael F Wangler ,Haley Streff ,Joseph D Symonds ,Sameer M Zuberi ,Katherine S Elliott ,Victoria R Sanders ,Abigail Masunga ,Robert J Hopkin ,Holly A Dubbs ,Xilma R Ortiz-Gonzalez ,Rolph Pfundt ,Han G Brunner ,Simon E Fisher ,Tjitske Kleefstra ,Gregory M Cooper

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features

染色质重塑因子BPTF的单倍体不足会导致综合征性发育和语言迟缓、出生后小头畸形和面部畸形。

Paweł Stankiewicz,Tahir N Khan,Przemyslaw Szafranski,Leah Slattery,Haley Streff,Francesco Vetrini,Jonathan A Bernstein,Chester W Brown,Jill A Rosenfeld,Surya Rednam,Sarah Scollon,Katie L Bergstrom,Donald W Parsons,Sharon E Plon,Marta W Vieira,Caio R D C Quaio,Wagner A R Baratela,Johanna C Acosta Guio,Ruth Armstrong,Sarju G Mehta,Patrick Rump,Rolph Pfundt,Raymond Lewandowski,Erica M Fernandes,Deepali N Shinde,Sha Tang,Juliane Hoyer,Christiane Zweier,André Reis,Carlos A Bacino,Rui Xiao,Amy M Breman,Janice L Smith