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

Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease

导致新生儿线粒体疾病的新型 FARS2 变异的临床和分子特征

Wenqian Chen, Preeya Rehsi, Kyle Thompson, Mildrid Yeo, Karen Stals, Langping He, Paul Schimmel, Zofia M A Chrzanowska-Lightowlers, Emma Wakeling, Robert W Taylor, Bernhard Kuhle

Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features

SMARCA5(染色质重塑因子)的致病变异可导致一系列综合征性神经发育特征

Dong Li, Qin Wang, Naihua N Gong, Alina Kurolap, Hagit Baris Feldman, Nikolas Boy, Melanie Brugger, Katheryn Grand, Kirsty McWalter, Maria J Guillen Sacoto, Emma Wakeling, Jane Hurst, Michael E March, Elizabeth J Bhoj, Małgorzata J M Nowaczyk, Claudia Gonzaga-Jauregui, Mariam Mathew, Ashita Dava-Wal

BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome

BRD4 与 NIPBL 相互作用,且 BRD4 突变与 Cornelia de Lange 样综合征有关。

Gabrielle Olley # ,Morad Ansari # ,Hemant Bengani ,Graeme R Grimes ,James Rhodes ,Alex von Kriegsheim ,Ana Blatnik ,Fiona J Stewart ,Emma Wakeling ,Nicola Carroll ,Alison Ross ,Soo-Mi Park ,Madapura M Pradeepa ,David R FitzPatrick

Complexity of the 5' Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development

EIF4A3 5' 非翻译区的复杂性是颅面和神经发育的关键因素

Gabriella S P Hsia, Camila M Musso, Lucas Alvizi, Luciano A Brito, Gerson S Kobayashi, Rita C M Pavanello, Mayana Zatz, Alice Gardham, Emma Wakeling, Roseli M Zechi-Ceide, Debora Bertola, Maria Rita Passos-Bueno

Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing

通过父母外显子组测序诊断致死性或产前发病的常染色体隐性遗传病

Karen L Stals ,Matthew Wakeling ,Júlia Baptista ,Richard Caswell ,Andrew Parrish ,Julia Rankin ,Carolyn Tysoe ,Garan Jones ,Adam C Gunning ,Hana Lango Allen ,Lisa Bradley ,Angela F Brady ,Helena Carley ,Jenny Carmichael ,Bruce Castle ,Deirdre Cilliers ,Helen Cox ,Charu Deshpande ,Abhijit Dixit ,Jacqueline Eason ,Frances Elmslie ,Andrew E Fry ,Alan Fryer ,Muriel Holder ,Tessa Homfray ,Emma Kivuva ,Victoria McKay ,Ruth Newbury-Ecob ,Michael Parker ,Ravi Savarirayan ,Claire Searle ,Nora Shannon ,Deborah Shears ,Sarah Smithson ,Ellen Thomas ,Peter D Turnpenny ,Vinod Varghese ,Pradeep Vasudevan ,Emma Wakeling ,Emma L Baple ,Sian Ellard