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

Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression

对来自 19,263 例临床微阵列病例的 NRXN1 缺失进行分子特征分析,鉴定出对神经发育疾病表达至关重要的外显子。

Lowther, Chelsea; Speevak, Marsha; Armour, Christine M; Goh, Elaine S; Graham, Gail E; Li, Chumei; Zeesman, Susan; Nowaczyk, Malgorzata J M; Schultz, Lee-Anne; Morra, Antonella; Nicolson, Rob; Bikangaga, Peter; Samdup, Dawa; Zaazou, Mostafa; Boyd, Kerry; Jung, Jack H; Siu, Victoria; Rajguru, Manjulata; Goobie, Sharan; Tarnopolsky, Mark A; Prasad, Chitra; Dick, Paul T; Hussain, Asmaa S; Walinga, Margreet; Reijenga, Renske G; Gazzellone, Matthew; Lionel, Anath C; Marshall, Christian R; Scherer, Stephen W; Stavropoulos, Dimitri J; McCready, Elizabeth; Bassett, Anne S

Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?

MAP2K2/MEK2 的删除:RASopathy 的新机制?

M J M Nowaczyk, B A Thompson, S Zeesman, U Moog, P A Sanchez-Lara, P L Magoulas, R E Falk, J E Hoover-Fong, D A S Batista, S M Amudhavalli, S M White, G E Graham, K A Rauen

SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant

SCRIB 和 PUF60 是 8q24.3 拷贝数变异多系统表型的主要驱动因素

Andrew Dauber, Christelle Golzio, Cécile Guenot, Francine M Jodelka, Maria Kibaek, Susanne Kjaergaard, Bruno Leheup, Danielle Martinet, Malgorzata J M Nowaczyk, Jill A Rosenfeld, Susan Zeesman, Janice Zunich, Jacques S Beckmann, Joel N Hirschhorn, Michelle L Hastings, Sebastien Jacquemont, Nicholas

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A

新的 9q34.11 基因缺失包含四种孟德尔遗传病基因的组合:STXBP1、SPTAN1、ENG 和 TOR1A

Campbell, Ian M; Yatsenko, Svetlana A; Hixson, Patricia; Reimschisel, Tyler; Thomas, Matthew; Wilson, William; Dayal, Usha; Wheless, James W; Crunk, Amy; Curry, Cynthia; Parkinson, Nicole; Fishman, Leona; Riviello, James J; Nowaczyk, Malgorzata J M; Zeesman, Susan; Rosenfeld, Jill A; Bejjani, Bassem A; Shaffer, Lisa G; Cheung, Sau Wai; Lupski, James R; Stankiewicz, Pawel; Scaglia, Fernando

Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia

发育性语言失用症中缺乏父系遗传的FOXP2基因

Feuk, Lars; Kalervo, Aino; Lipsanen-Nyman, Marita; Skaug, Jennifer; Nakabayashi, Kazuhiko; Finucane, Brenda; Hartung, Danielle; Innes, Micheil; Kerem, Batsheva; Nowaczyk, Malgorzata J; Rivlin, Joseph; Roberts, Wendy; Senman, Lili; Summers, Anne; Szatmari, Peter; Wong, Virginia; Vincent, John B; Zeesman, Susan; Osborne, Lucy R; Cardy, Janis Oram; Kere, Juha; Scherer, Stephen W; Hannula-Jouppi, Katariina