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

Genetic regulation of the estrogen receptor and inherited predisposition to breast cancer

雌激素受体的基因调控与乳腺癌的遗传易感性

Pierce, Sarah B; Kortbawi, Hannah; Gulsuner, Suleyman; Mandell, Jessica B; Lee, Ming K; Walsh, Tom; King, Mary-Claire

Long-read DNA and RNA sequencing for inherited polyposis and colorectal cancer: cryptic intronic variants and multiple mutational mechanisms

长读长DNA和RNA测序在遗传性息肉病和结直肠癌中的应用:隐蔽的内含子变异和多种突变机制

Jacobson, Angela L; AbuRayyan, Amal; Gulsuner, Suleyman; Slater, Haley; Anasiz, Yagiz; Ahmad, Sirajummuneer M; Lee, Ming K; Mandell, Jessica; Rettner, Emily J; Konnick, Eric Q; Pritchard, Colin; King, Mary-Claire; Walsh, Tom; Shirts, Brian H

An evolutionary perspective on complex neuropsychiatric disease

从进化角度看复杂神经精神疾病

McClellan, Jon M; Zoghbi, Anthony W; Buxbaum, Joseph D; Cappi, Carolina; Crowley, James J; Flint, Jonathan; Grice, Dorothy E; Gulsuner, Suleyman; Iyegbe, Conrad; Jain, Sanjeev; Kuo, Po-Hsiu; Lattig, Maria Claudia; Passos-Bueno, Maria Rita; Purushottam, Meera; Stein, Dan J; Sunshine, Anna B; Susser, Ezra S; Walsh, Christopher A; Wootton, Olivia; King, Mary-Claire

Long-read DNA and cDNA sequencing identify cancer-predisposing deep intronic variation in tumor-suppressor genes

长读长DNA和cDNA测序鉴定出肿瘤抑制基因中与癌症易感性相关的深内含子变异

Gulsuner, Suleyman; AbuRayyan, Amal; Mandell, Jessica B; Lee, Ming K; Bernier, Greta V; Norquist, Barbara M; Pierce, Sarah B; King, Mary-Claire; Walsh, Tom

Evaluating the prevalence of inborn errors of immunity in adults with chronic immune thrombocytopenia or Evans syndrome

评估患有慢性免疫性血小板减少症或埃文斯综合征的成年人中先天性免疫缺陷的患病率

Jiang, Debbie; Rosenlind, Kira; Baxter, Sarah; Gernsheimer, Terry; Gulsuner, Suleyman; Allenspach, Eric J; Keel, Siobán B

Association of Genetic Diagnoses for Childhood-Onset Hearing Loss With Cochlear Implant Outcomes

儿童期发病听力损失的基因诊断与人工耳蜗植入结果的关联

Carlson, Ryan J; Walsh, Tom; Mandell, Jessica B; Aburayyan, Amal; Lee, Ming K; Gulsuner, Suleyman; Horn, David L; Ou, Henry C; Sie, Kathleen C Y; Mancl, Lisa; Rubinstein, Jay; King, Mary-Claire

A paradoxical genotype-phenotype relationship: Low level of GOSR2 translation from a non-AUG start codon in a family with profound hearing loss

一种看似矛盾的基因型-表型关系:在一个患有严重听力损失的家族中,GOSR2基因从非AUG起始密码子翻译的水平很低。

Aburayyan, Amal; Carlson, Ryan J; Rabie, Grace N; Lee, Ming K; Gulsuner, Suleyman; Walsh, Tom; Avraham, Karen B; Kanaan, Moien N; King, Mary-Claire

Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management

儿童免疫失调、多内分泌病和肠病的分子诊断及其对临床管理的意义

Baxter, Sarah K; Walsh, Tom; Casadei, Silvia; Eckert, Mary M; Allenspach, Eric J; Hagin, David; Segundo, Gesmar; Lee, Ming K; Gulsuner, Suleyman; Shirts, Brian H; Sullivan, Kathleen E; Keller, Michael D; Torgerson, Troy R; King, Mary-Claire

Inherited predisposition to breast cancer in the Carolina Breast Cancer Study

卡罗莱纳乳腺癌研究中的乳腺癌遗传易感性

Walsh, Tom; Gulsuner, Suleyman; Lee, Ming K; Troester, Melissa A; Olshan, Andrew F; Earp, H Shelton; Perou, Charles M; King, Mary-Claire

Genetic Heterogeneity and Core Clinical Features of NOG-Related-Symphalangism Spectrum Disorder

NOG 相关指关节综合征谱系障碍的遗传异质性和核心临床特征

Ryan J Carlson, Alicia Quesnel, Dawson Wells, Zippora Brownstein, Dror Gilony, Suleyman Gulsuner, Kathleen A Leppig, Karen B Avraham, Mary-Claire King, Tom Walsh, Jay Rubinstein