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

The utility of ultra-deep RNA sequencing in Mendelian disorder diagnostics

超深度RNA测序在孟德尔遗传病诊断中的应用

Zhao, Sen; Sinson, Jefferson C; Li, Shenglan; Rosenfeld, Jill A; Zapata, Gladys; Macakova, Kristina; Pena, Mezthly; Maywald, Becky; Worley, Kim C; Burrage, Lindsay C; Weisz-Hubshman, Monika; Ketkar, Shamika; Craigen, William; Emrick, Lisa; Clark, Tyson; Lithwick, Gila Yanai; Shipony, Zohar; Eng, Christine; Lee, Brendan; Liu, Pengfei

C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder

GPKOW基因C端移码变异与一种多系统性X连锁疾病相关。

Mok, Jung-Wan; Mackay, Laura; Blazo, Maria; Mizerik, Elizabeth; Gecz, Jozef; Carroll, Renee; Nizon, Mathilde; Rondeau, Sophie; Joubert, Madeleine; Cuinat, Silvestre; Deb, Wallid; Valle Sirias, Fernanda; Weisz-Hubshman, Monika; Ketkar, Shamika; Polak, Urszula; Tran, Alyssa A; Kearney, Debra; Hanchard, Neil A; Kanca, Oguz; Wangler, Michael F; Bellen, Hugo J; Lee, Brendan H; Yamamoto, Shinya; Machol, Keren

Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy

POC5基因的双等位基因功能缺失变异会导致视网膜、内分泌和神经肌肉纤毛病综合征。

Vulto-van Silfhout, Anneke T; Jazet, Ingrid M; Yzer, Suzanne; Pas, Jeroen; Demirdas, Serwet; van Rossum, Elisabeth F C; Thiadens, Alberta A H J; van Beek, Ronald; Haer-Wigman, Lonneke; Barge-Schaapveld, Daniela Q C M; Brasch-Andersen, Charlotte; Frost, Simon; Bauwens, Miriam; De Baere, Elfride; Balikova, Irina; Van den Broeck, Filip; Weisz-Hubshman, Monika; Joset, Pascal; Miny, Peter; Filges, Isabel; Kohl, Susanne; De Angeli, Pietro; Kühlewein, Laura; Bodenbender, Jan-Philipp; Haack, Tobias; Poths, Karin; Fernandez-Caballero, Lidia; Corton, Marta; Blanco Kelly, Fiona; Ayuso, Carmen; Martínez-Esteban, Peggy; Vissing, John; Díaz-Manera, Jordi; Straub, Volker; Töpf, Ana; Lin, Siying; Arno, Gavin; Macken, William L; Spillane, Jennifer; Ramachandran, Radha; de Vrieze, Erik; van Ham, Tjakko; Roosing, Susanne; Oud, Machteld M

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

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

由 PPFIA3 罕见变异引起的综合征性神经发育障碍

Maimuna S Paul, Sydney L Michener, Hongling Pan, Hiuling Chan, Jessica M Pfliger, Jill A Rosenfeld, Vanesa C Lerma, Alyssa Tran, Megan A Longley, Richard A Lewis, Monika Weisz-Hubshman, Mir Reza Bekheirnia, Nasim Bekheirnia, Lauren Massingham, Michael Zech, Matias Wagner, Hartmut Engels, Kirsten Cre

Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder

拓展复制因子C复合物相关疾病的遗传和表型图谱:RFC4缺陷与多系统疾病相关

Marie Morimoto,Eunjin Ryu,Benjamin J Steger,Abhijit Dixit,Yoshihiko Saito,Juyeong Yoo,Amelie T van der Ven,Natalie Hauser,Peter J Steinbach,Kazumasa Oura,Alden Y Huang,Fanny Kortüm,Shinsuke Ninomiya,Elisabeth A Rosenthal,Hannah K Robinson,Katie Guegan,Jonas Denecke,Sankarasubramoney H Subramony,Callie J Diamonstein,Jie Ping,Mark Fenner,Elsa V Balton,Sam Strohbehn,Aimee Allworth,Michael J Bamshad,Mahi Gandhi,Katrina M Dipple,Elizabeth E Blue,Gail P Jarvik  ; University of Washington Center for Rare Disease Research; C Christopher Lau,Ingrid A Holm,Monika Weisz-Hubshman,Benjamin D Solomon  ; Undiagnosed Diseases Network; Stanley F Nelson,Ichizo Nishino,David R Adams,Sukhyun Kang,William A Gahl,Camilo Toro,Kyungjae Myung,May Christine V Malicdan

Assigning pathogenicity for TAB2 variants using a novel scalable functional assay and expanding TAB2 disease spectrum

使用新的可扩展功能检测方法确定 TAB2 变异的致病性并扩大 TAB2 疾病谱

Weiyi Xu, Andrea Graves, Monika Weisz-Hubshman, Lamees Hegazy, Christina Magyar, Zian Liu, Eleni Nasiotis, Md Abul Hassan Samee, Thomas Burris, Seema Lalani, Lilei Zhang

DDRGK1 is required for the proper development and maintenance of the growth plate cartilage

DDRGK1 是生长板软骨正常发育和维持所必需的

Monika Weisz-Hubshman, Adetutu T Egunsula, Brian Dawson, Alexis Castellon, Ming-Ming Jiang, Yuqing Chen-Evenson, Yu Zhiyin, Brendan Lee, Yangjin Bae

Molecular alterations due to Col5a1 haploinsufficiency in a mouse model of classic Ehlers-Danlos syndrome

经典 Ehlers-Danlos 综合征小鼠模型中因 Col5a1 单倍体不足而导致的分子改变

Keren Machol, Urszula Polak, Monika Weisz-Hubshman, I-Wen Song, Shan Chen, Ming-Ming Jiang, Yuqing Chen-Evenson, Mary Ann E Weis, Douglas R Keene, David R Eyre, Brendan H Lee

Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability

赖氨酸乙酰转移酶 8 与大脑发育和综合征性智力障碍有关

Lin Li, Mohammad Ghorbani, Monika Weisz-Hubshman, Justine Rousseau, Isabelle Thiffault, Rhonda E Schnur, Catherine Breen, Renske Oegema, Marjan Mm Weiss, Quinten Waisfisz, Sara Welner, Helen Kingston, Jordan A Hills, Elles Mj Boon, Lina Basel-Salmon, Osnat Konen, Hadassa Goldberg-Stern, Lily Bazak,