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

Sequence variants in HECTD1 result in a variable neurodevelopmental disorder

HECTD1基因序列变异会导致不同的神经发育障碍

Zerafati-Jahromi, Gazelle; Oxman, Elias; Hoang, Hieu D; Charng, Wu-Lin; Kotla, Tanvitha; Yuan, Weimin; Ishibashi, Keito; Sebaoui, Sonia; Luedtke, Kathryn; Winrow, Bryce; Ganetzky, Rebecca D; Ruiz, Anna; Manso-Basúz, Carmen; Spataro, Nino; Kannu, Peter; Athey, Taryn; Peroutka, Christina; Barnes, Caitlin; Sidlow, Richard; Anadiotis, George; Magnussen, Kari; Valenzuela, Irene; Moles-Fernandez, Alejandro; Berger, Seth; Grant, Christina L; Vilain, Eric; Arnadottir, Gudny A; Sulem, Patrick; Sulem, Telma S; Stefansson, Kari; Massey, Shavonne; Ginn, Natalie; Poduri, Annapurna; D'Gama, Alissa M; Valentine, Rozalia; Trowbridge, Sara K; Murali, Chaya N; Franciskovich, Rachel; Tran, Yen; Webb, Bryn D; Keppler-Noreuil, Kim M; Hall, April L; McGivern, Bobbi; Monaghan, Kristin G; Guillen Sacoto, Maria J; Baldridge, Dustin; Silverman, Gary A; Dahiya, Sonika; Turner, Tychele N; Schedl, Tim; Corbin, Joshua G; Pak, Stephen C; Zohn, Irene E; Gurnett, Christina A

Rare missense variants in FNDC1 are associated with severe adolescent idiopathic scoliosis

FNDC1基因中的罕见错义变异与严重的青少年特发性脊柱侧弯相关。

Charng, Wu-Lin; Haller, Gabe; Whittle, Julia; Nikolov, Momchil; Avery, Addison; Morcuende, Jose; Giampietro, Philip; Raggio, Cathy; Miller, Nancy; Justice, Anne E; Strande, Natasha T; Seeley, Mark; Bodian, Dale L; Wise, Carol A; Sepich, Diane S; Dobbs, Matthew B; Gurnett, Christina A

Pathogenic DVL frameshifting variants in Robinow syndrome disrupt WNT signaling and cellular dynamics

Robinow综合征中的致病性DVL移码变异会破坏WNT信号传导和细胞动力学。

Zhang, Chaofan; Roy, Rituparna Sinha; Lun, Ming Yin; Mazzeu, Juliana F; White, Janson; Charng, Wu-Lin; Peters, Nathaniel; Gustafson, Jonas A; Iyer, Harshini; Dardas, Zain; Lee, Hyun Kyoung; Sutton, V Reid; Lupski, James R; Carvalho, Claudia M B

Exome sequencing of 1190 non-syndromic clubfoot cases reveals HOXD12 as a novel disease gene

对 1190 例非综合征型马蹄内翻足病例进行外显子组测序,发现 HOXD12 是一种新的致病基因。

Charng, Wu-Lin; Nikolov, Momchil; Shrestha, Isabel; Seeley, Mark A; Josyula, Navya Shilpa; Justice, Anne E; Dobbs, Matthew B; Gurnett, Christina A

Diagnostic yield of exome sequencing in congenital vertical talus

外显子组测序在先天性垂直距骨诊断中的应用价值

Tayebi, Naeimeh; Charng, Wu-Lin; Dickson, Patricia I; Dobbs, Matthew B; Gurnett, Christina A

Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia

衣藻中负责不对称靶向部分内动力蛋白臂的CFAP57蛋白发生突变会导致原发性纤毛运动障碍。

Bustamante-Marin, Ximena M; Horani, Amjad; Stoyanova, Mihaela; Charng, Wu-Lin; Bottier, Mathieu; Sears, Patrick R; Yin, Wei-Ning; Daniels, Leigh Anne; Bowen, Hailey; Conrad, Donald F; Knowles, Michael R; Ostrowski, Lawrence E; Zariwala, Maimoona A; Dutcher, Susan K

Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia

CFAP221基因变异的鉴定是原发性纤毛运动障碍的病因

Bustamante-Marin, Ximena M; Shapiro, Adam; Sears, Patrick R; Charng, Wu-Lin; Conrad, Donald F; Leigh, Margaret W; Knowles, Michael R; Ostrowski, Lawrence E; Zariwala, Maimoona A

MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

MIPEP隐性变异会导致左心室致密化不全、肌张力低下和婴儿猝死综合征。

Eldomery, Mohammad K; Akdemir, Zeynep C; Vögtle, F-Nora; Charng, Wu-Lin; Mulica, Patrycja; Rosenfeld, Jill A; Gambin, Tomasz; Gu, Shen; Burrage, Lindsay C; Al Shamsi, Aisha; Penney, Samantha; Jhangiani, Shalini N; Zimmerman, Holly H; Muzny, Donna M; Wang, Xia; Tang, Jia; Medikonda, Ravi; Ramachandran, Prasanna V; Wong, Lee-Jun; Boerwinkle, Eric; Gibbs, Richard A; Eng, Christine M; Lalani, Seema R; Hertecant, Jozef; Rodenburg, Richard J; Abdul-Rahman, Omar A; Yang, Yaping; Xia, Fan; Wang, Meng C; Lupski, James R; Meisinger, Chris; Sutton, V Reid

Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics

通过整合外显子组测序、转录组学和三维基因组学,识别 RAI1 相关疾病网络

Loviglio, Maria Nicla; Beck, Christine R; White, Janson J; Leleu, Marion; Harel, Tamar; Guex, Nicolas; Niknejad, Anne; Bi, Weimin; Chen, Edward S; Crespo, Isaac; Yan, Jiong; Charng, Wu-Lin; Gu, Shen; Fang, Ping; Coban-Akdemir, Zeynep; Shaw, Chad A; Jhangiani, Shalini N; Muzny, Donna M; Gibbs, Richard A; Rougemont, Jacques; Xenarios, Ioannis; Lupski, James R; Reymond, Alexandre

WAC Regulates mTOR Activity by Acting as an Adaptor for the TTT and Pontin/Reptin Complexes

WAC通过作为TTT和Pontin/Reptin复合物的接头蛋白来调节mTOR活性

David-Morrison, Gabriela; Xu, Zhen; Rui, Yan-Ning; Charng, Wu-Lin; Jaiswal, Manish; Yamamoto, Shinya; Xiong, Bo; Zhang, Ke; Sandoval, Hector; Duraine, Lita; Zuo, Zhongyuan; Zhang, Sheng; Bellen, Hugo J