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

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

AP2M1基因中一种复发性错义变异会损害网格蛋白介导的内吞作用,并导致发育性和癫痫性脑病。

Ingo Helbig ,Tania Lopez-Hernandez ,Oded Shor ,Peter Galer ,Shiva Ganesan ,Manuela Pendziwiat ,Annika Rademacher ,Colin A Ellis ,Nadja Hümpfer ,Niklas Schwarz ,Simone Seiffert ,Joseph Peeden ,Joseph Shen ,Katalin Štěrbová ,Trine Bjørg Hammer ,Rikke S Møller ,Deepali N Shinde ,Sha Tang ,Lacey Smith ,Annapurna Poduri ,Roland Krause ,Felix Benninger ,Katherine L Helbig ,Volker Haucke ,Yvonne G Weber

Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation

FUT8 中的双等位基因突变导致先天性糖基化障碍,伴有岩藻糖基化缺陷

Bobby G Ng, Gege Xu, Nandini Chandy, Joan Steyermark, Deepali N Shinde, Kelly Radtke, Kimiyo Raymond, Carlito B Lebrilla, Ali AlAsmari, Sharon F Suchy, Zöe Powis, Eissa Ali Faqeih, Susan A Berry, David F Kronn, Hudson H Freeze

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

De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities

GRIA4基因的新生突变会导致智力障碍,伴或不伴癫痫发作和步态异常。

Sonja Martin ,Adam Chamberlin ,Deepali N Shinde ,Maja Hempel ,Tim M Strom ,Allison Schreiber ,Jessika Johannsen ,Lilian Bomme Ousager ,Martin J Larsen ,Lars Kjaersgaard Hansen ,Ali Fatemi ,Julie S Cohen ,Johannes Lemke ,Kristina P Sørensen ,Katherine L Helbig ,Davor Lessel ,Rami Abou Jamra

De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures

PPP3CA基因的新生突变导致严重的神经发育障碍并伴有癫痫发作

Candace T Myers ,Nicholas Stong ,Emily I Mountier ,Katherine L Helbig ,Saskia Freytag ,Joseph E Sullivan ,Bruria Ben Zeev ,Andreea Nissenkorn ,Michal Tzadok ,Gali Heimer ,Deepali N Shinde ,Arezoo Rezazadeh ,Brigid M Regan ,Karen L Oliver ,Michelle E Ernst ,Natalie C Lippa ,Maureen S Mulhern ,Zhong Ren ,Annapurna Poduri ,Danielle M Andrade ,Lynne M Bird ,Melanie Bahlo ,Samuel F Berkovic ,Daniel H Lowenstein ,Ingrid E Scheffer ,Lynette G Sadleir ,David B Goldstein ,Heather C Mefford ,Erin L Heinzen

Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications

基因分类:基因-疾病关联的标准化临床有效性评估有助于诊断性外显子组分析和重新分类

Erica D Smith ,Kelly Radtke ,Mari Rossi ,Deepali N Shinde ,Sourat Darabi ,Dima El-Khechen ,Zöe Powis ,Katherine Helbig ,Kendra Waller ,Dorothy K Grange ,Sha Tang ,Kelly D Farwell Hagman