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

Targeted analysis of dyslexia-associated regions on chromosomes 6, 12 and 15 in large multigenerational cohorts

对大型多代队列中6号、12号和15号染色体上与阅读障碍相关的区域进行靶向分析

Chapman, Nicola H; Navas, Patrick A; Dorschner, Michael O; Mehaffey, Michele; Wigg, Karen G; Price, Kaitlyn M; Naumova, Oxana Y; Kerr, Elizabeth N; Guger, Sharon L; Lovett, Maureen W; Grigorenko, Elena L; Berninger, Virginia; Barr, Cathy L; Wijsman, Ellen M; Raskind, Wendy H

Assessing Long-Term Neurologic Outcomes in SAMD9L-Related Ataxia-Pancytopenia Syndrome

评估SAMD9L相关共济失调-全血细胞减少症综合征的长期神经系统预后

Zingariello, Carla D; Chen, Dong-Hui; Raskind, Wendy H; Slayton, William B; Subramony, Sub; Severance, Joyce; Feagle, Megan; Rasmussen, Sonja A

Joint exome and metabolome analysis in individuals with dyslexia: Evidence for associated dysregulations of olfactory perception and autoimmune functions

对阅读障碍患者进行外显子组和代谢组联合分析:嗅觉感知和自身免疫功能失调的相关证据

Nandakumar, Rohit; Shi, Xiaojian; Gu, Haiwei; Kim, Yookyung; Raskind, Wendy H; Peter, Beate; Dinu, Valentin

Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts

UQCRFS1相关线粒体复合物III缺乏症和隐性GJA8相关白内障的双重诊断

Blue, Elizabeth E; Huang, Samuel J; Khan, Alyna; Golden-Grant, Katie; Boyd, Brenna; Rosenthal, Elisabeth A; Gillentine, Madelyn A; Fleming, Leah R; Adams, David R; Wolfe, Lynne; Allworth, Aimee; Bamshad, Michael J; Caruana, Nikeisha J; Chanprasert, Sirisak; Chen, Jingheng; Dargie, Nitsuh; Doherty, Daniel; Friederich, Marisa W; Hisama, Fuki M; Horike-Pyne, Martha; Lee, Jessica C; Donovan, Tonia E; Hock, Daniella H; Leppig, Kathleen A; Miller, Danny E; Mirzaa, Ghayda; Ranchalis, Jane; Raskind, Wendy H; Michel, Cole R; Reisdorph, Richard; Schwarze, Ulrike; Sheppeard, Sam; Strohbehn, Samuel; Stroud, David A; Sybert, Virginia P; Wener, Mark H; Stergachis, Andrew B; Lam, Christina T; Jarvik, Gail P; Dipple, Katrina M; Van Hove, Johan L K; Glass, Ian A

Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome

SLC1A4基因的显性负性变异会导致常染色体显性遗传性癫痫综合征。

Pujol-Giménez, Jonai; Mirzaa, Ghayda; Blue, Elizabeth E; Albano, Giuseppe; Miller, Danny E; Allworth, Aimee; Bennett, James T; Byers, Peter H; Chanprasert, Sirisak; Chen, Jingheng; Doherty, Daniel; Folta, Andrew B; Gillentine, Madelyn A; Glass, Ian; Hing, Anne; Horike-Pyne, Martha; Leppig, Kathleen A; Parhin, Azma; Ranchalis, Jane; Raskind, Wendy H; Rosenthal, Elisabeth A; Schwarze, Ulrike; Sheppeard, Sam; Strohbehn, Samuel; Sybert, Virginia P; Timms, Andrew; Wener, Mark; Bamshad, Michael J; Hisama, Fuki M; Jarvik, Gail P; Dipple, Katrina M; Hediger, Matthias A; Stergachis, Andrew B

Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A

利用全长同工型测序解析夏科-马里-图斯病2A型的分子基础

Stergachis, Andrew B; Blue, Elizabeth E; Gillentine, Madelyn A; Wang, Lee-Kai; Schwarze, Ulrike; Cortés, Adriana Sedeño; Ranchalis, Jane; Allworth, Aimee; Bland, Austin E; Chanprasert, Sirisak; Chen, Jingheng; Doherty, Daniel; Folta, Andrew B; Glass, Ian; Horike-Pyne, Martha; Huang, Alden Y; Khan, Alyna T; Leppig, Kathleen A; Miller, Danny E; Mirzaa, Ghayda; Parhin, Azma; Raskind, Wendy H; Rosenthal, Elisabeth A; Sheppeard, Sam; Strohbehn, Samuel; Sybert, Virginia P; Tran, Thao T; Wener, Mark H; Byers, Peter H H; Nelson, Stanley F; Bamshad, Michael J; Dipple, Katrina M; Jarvik, Gail P; Hoppins, Suzanne; Hisama, Fuki M

NOTCH3 C201R variant causes cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) that can be confused with early-onset Alzheimer's disease

NOTCH3 C201R 变异会导致伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病 (CADASIL),这种疾病可能与早发性阿尔茨海默病相混淆。

Korvatska, Olena; Bucks, Stephanie A; Yoda, Rebecca A; Nolan, Amber; Dorschner, Michael O; Tsuang, Debby; Jayadev, Suman; Raskind, Wendy H; Bird, Thomas D

A data-fusion approach to identifying developmental dyslexia from multi-omics datasets

利用多组学数据集进行数据融合以识别发育性阅读障碍

Carrion, Jackson; Nandakumar, Rohit; Shi, Xiaojian; Gu, Haiwei; Kim, Yookyung; Raskind, Wendy H; Peter, Beate; Dinu, Valentin

Familial Idiopathic Basal Ganglia Calcification: A Father-Son Dyad Demonstrate Heterogeneity of Presentation and Disease Progression

家族性特发性基底节钙化:父子病例显示临床表现和疾病进展的异质性

Zahniser, Evan; Bird, Thomas D; Chen, Dong-Hui; Hu, Shu-Ching; Raskind, Wendy H; Trittschuh, Emily H

Heterozygous STUB1 missense variants cause ataxia, cognitive decline, and STUB1 mislocalization

STUB1 杂合错义变异会导致共济失调、认知能力下降和 STUB1 定位异常。

Chen, Dong-Hui; Latimer, Caitlin; Yagi, Mayumi; Ndugga-Kabuye, Mesaki Kenneth; Heigham, Elyana; Jayadev, Suman; Meabon, James S; Gomez, Christopher M; Keene, C Dirk; Cook, David G; Raskind, Wendy H; Bird, Thomas D