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

The Influence of Microdeletions and Microduplications of 16p11.2 on Global Transcription Profiles.

16p11.2 微缺失和微重复对整体转录谱的影响

Kusenda Mary, Vacic Vladimir, Malhotra Dheeraj, Rodgers Linda, Pavon Kevin, Meth Jennifer, Kumar Ravinesh A, Christian Susan L, Peeters Hilde, Cho Shawn S, Addington Anjene, Rapoport Judith L, Sebat Jonathan

A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism

从头发生的 1p34.2 微缺失将突触囊泡基因 RIMS3 鉴定为自闭症的新候选基因

Kumar, Ravinesh A; Sudi, Jyotsna; Babatz, Timothy D; Brune, Camille W; Oswald, Donald; Yen, Mayon; Nowak, Norma J; Cook, Edwin H; Christian, Susan L; Dobyns, William B

TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins

TUBA1A 基因突变会导致广泛性无脑回畸形(大脑光滑),并表明多种神经元迁移途径汇聚于 α-微管蛋白。

Kumar, Ravinesh A; Pilz, Daniela T; Babatz, Timothy D; Cushion, Thomas D; Harvey, Kirsten; Topf, Maya; Yates, Laura; Robb, Stephanie; Uyanik, Gökhan; Mancini, Gracia M S; Rees, Mark I; Harvey, Robert J; Dobyns, William B

Association and mutation analyses of 16p11.2 autism candidate genes

16p11.2自闭症候选基因的关联和突变分析

Kumar, Ravinesh A; Marshall, Christian R; Badner, Judith A; Babatz, Timothy D; Mukamel, Zohar; Aldinger, Kimberly A; Sudi, Jyotsna; Brune, Camille W; Goh, Gerald; Karamohamed, Samer; Sutcliffe, James S; Cook, Edwin H; Geschwind, Daniel H; Dobyns, William B; Scherer, Stephen W; Christian, Susan L

Selected summaries from the XVI World Congress of Psychiatric Genetics, Osaka, Japan, 11-15 October 2008

2008年10月11日至15日,日本大阪,第十六届世界精神病遗传学大会部分摘要

Bergen, Sarah; Chen, Jingchun; Dagdan, Elif; Foon, Tee Shiau; Goes, Fernando S; Houlihan, Lorna M; Kloiber, Stefan; Kumar, Ravinesh A; Kuzman, Martina Rojnic; Menke, Andreas; Pedroso, Inti; Videtic, Alja; Villafuerte, Sandra; DeLisi, Lynn E

Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder

在自闭症谱系障碍中检测到新的亚显微染色体异常

Christian, Susan L; Brune, Camille W; Sudi, Jyotsna; Kumar, Ravinesh A; Liu, Shaung; Karamohamed, Samer; Badner, Judith A; Matsui, Seiichi; Conroy, Jeffrey; McQuaid, Devin; Gergel, James; Hatchwell, Eli; Gilliam, T Conrad; Gershon, Elliot S; Nowak, Norma J; Dobyns, William B; Cook, Edwin H Jr

Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes

五名患有 MMEP(小头畸形、小眼畸形、缺指畸形和下颌前突)及相关表型的患者中,NR2E1 和 SNX3 均未发现突变。

Kumar, Ravinesh A; Everman, David B; Morgan, Chad T; Slavotinek, Anne; Schwartz, Charles E; Simpson, Elizabeth M