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

A whole exome sequencing study to identify rare variants in multiplex families with alcohol use disorder

一项全外显子组测序研究旨在识别患有酒精使用障碍的多重家族中的罕见变异

Hill, Shirley Y; Hostyk, Joseph

Risk Variants in the Exomes of Children With Critical Illness

重症儿童外显子组中的风险变异

Motelow, Joshua E; Lippa, Natalie C; Hostyk, Joseph; Feldman, Evin; Nelligan, Matthew; Ren, Zhong; Alkelai, Anna; Milner, Joshua D; Gharavi, Ali G; Tang, Yingying; Goldstein, David B; Kernie, Steven G

Whole exome sequencing reveals potentially pathogenic variants in a small subset of premenopausal women with idiopathic osteoporosis

全外显子组测序揭示了一小部分患有特发性骨质疏松症的绝经前女性的潜在致病变异

Cohen, Adi; Hostyk, Joseph; Baugh, Evan H; Buchovecky, Christie M; Aggarwal, Vimla S; Recker, Robert R; Lappe, Joan M; Dempster, David W; Zhou, Hua; Kamanda-Kosseh, Mafo; Bucovsky, Mariana; Stubby, Julie; Goldstein, David B; Shane, Elizabeth

Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease

由于 PHGDH 单倍体不足导致的丝氨酸生物合成缺陷引起视网膜疾病

Kevin Eade #, Marin L Gantner #, Joseph A Hostyk #, Takayuki Nagasaki #, Sarah Giles, Regis Fallon, Sarah Harkins-Perry, Michelle Baldini, Esther W Lim, Lea Scheppke, Michael I Dorrell, Carolyn Cai, Evan H Baugh, Charles J Wolock, Martina Wallace, Rebecca B Berlow, David B Goldstein, Christian M Met

ATAV: a comprehensive platform for population-scale genomic analyses

ATAV:一个用于群体规模基因组分析的综合平台

Ren, Zhong; Povysil, Gundula; Hostyk, Joseph A; Cui, Hongzhu; Bhardwaj, Nitin; Goldstein, David B

Causal Genetic Variants in Stillbirth

死产的致病基因变异

Stanley, Kate E; Giordano, Jessica; Thorsten, Vanessa; Buchovecky, Christie; Thomas, Amanda; Ganapathi, Mythily; Liao, Jun; Dharmadhikari, Avinash V; Revah-Politi, Anya; Ernst, Michelle; Lippa, Natalie; Holmes, Halie; Povysil, Gundula; Hostyk, Joseph; Parker, Corette B; Goldenberg, Robert; Saade, George R; Dudley, Donald J; Pinar, Halit; Hogue, Carol; Reddy, Uma M; Silver, Robert M; Aggarwal, Vimla; Allen, Andrew S; Wapner, Ronald J; Goldstein, David B

A framework for the investigation of rare genetic disorders in neuropsychiatry

神经精神病学中罕见遗传疾病的研究框架

Sanders, Stephan J; Sahin, Mustafa; Hostyk, Joseph; Thurm, Audrey; Jacquemont, Sebastien; Avillach, Paul; Douard, Elise; Martin, Christa L; Modi, Meera E; Moreno-De-Luca, Andres; Raznahan, Armin; Anticevic, Alan; Dolmetsch, Ricardo; Feng, Guoping; Geschwind, Daniel H; Glahn, David C; Goldstein, David B; Ledbetter, David H; Mulle, Jennifer G; Pasca, Sergiu P; Samaco, Rodney; Sebat, Jonathan; Pariser, Anne; Lehner, Thomas; Gur, Raquel E; Bearden, Carrie E