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

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders

显性负性ATP5F1A变异体破坏氧化磷酸化,导致神经系统疾病。

Sara M Fielder ,Marisa W Friederich ,Daniella H Hock ,Jessie R Zhang ,Liana M Valin ,Jill A Rosenfeld ,Kevin T A Booth ,Natasha J Brown ,Rocio Rius ,Tanavi Sharma ,Liana N Semcesen ,Kim C Worley ,Lindsay C Burrage ,Kayla Treat ,Tara Samson ,Sarah Govert ,Sara DaCunha ,Weimin Yuan ,Jian Chen ,Jacob Lesinski ,Hieu Hoang ,Stephanie A Morrison ,Farah A Ladha ,Roxanne A Van Hove ,Cole R Michel ,Richard Reisdorph ,Eric Tycksen ,Dustin Baldridge ,Gary A Silverman ,Claudia Soler-Alfonso ,Erin Conboy ,Francesco Vetrini ,Lisa Emrick ,William J Craigen ,David A Stroud ,Johan L K Van Hove ,Tim Schedl ,Stephen C Pak

The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing

人源细胞转分化结合RNA测序的临床应用及诊断实施

Shenglan Li,Sen Zhao,Jefferson C Sinson,Aleksandar Bajic,Jill A Rosenfeld,Matthew B Neeley,Mezthly Pena,Kim C Worley,Lindsay C Burrage,Monika Weisz-Hubshman,Shamika Ketkar,William J Craigen,Gary D Clark,Seema Lalani,Carlos A Bacino,Keren Machol,Hsiao-Tuan Chao,Lorraine Potocki,Lisa Emrick,Jennifer Sheppard,My T T Nguyen,Anahita Khoramnia,Paula Patricia Hernandez,Sandesh Cs Nagamani,Zhandong Liu

Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies

杂合 MAP3K20 变异可导致外胚层发育不良、颅缝早闭、神经性听力损失和肢体异常

Daniel Brooks #, Elizabeth Burke #, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa Osei-Owusu, Heidi L Rehm, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio F Martínez-Monseny, Francesc Palau, Pengfei Liu

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

由于双等位基因 TANGO2 突变导致的复发性肌无力伴有横纹肌溶解症、代谢危机和心律失常

Seema R Lalani, Pengfei Liu, Jill A Rosenfeld, Levi B Watkin, Theodore Chiang, Magalie S Leduc, Wenmiao Zhu, Yan Ding, Shujuan Pan, Francesco Vetrini, Christina Y Miyake, Marwan Shinawi, Tomasz Gambin, Mohammad K Eldomery, Zeynep Hande Coban Akdemir, Lisa Emrick, Yael Wilnai, Susan Schelley, Mary Ka