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

Clinical Manifestations of VEXAS Syndrome Across a Broad Spectrum of UBA1 Mutation Burden

UBA1 突变负荷广泛范围内 VEXAS 综合征的临床表现

Anderson, Meghan; Ercelen, Defne; Richardson, Ashley; Kim, Jung; Torene, Rebecca I; Sirenko, Maria; Haley, Jeremy S; Cook, Adam; Hill, Wesley; Dove, James; Retterer, Kyle; Carroll, Eitan; Carey, David J; Asgari, Samira; Stewart, Douglas R; Beck, David B

MODY Is Prevalent in Later-Onset Diabetes and Has Potential for Targeted Therapy but Is Challenging to Identify

MODY在晚发型糖尿病中较为常见,具有靶向治疗的潜力,但识别难度较大。

Sharp, Luke N; Mirshahi, Uyenlinh L; Colclough, Kevin; Hall, Timothy S; Haley, Jeremy S; Cannon, Stuart J; Laver, Thomas W; Weedon, Michael N; Hattersley, Andrew T; Carey, David J; Patel, Kashyap A

Cancer risk in adults with pathogenic germline variants in RAS/MAPK genes using genomic ascertainment

利用基因组检测方法评估携带 RAS/MAPK 基因致病性种系变异的成年人的癌症风险

Kim, Jung; Ney, Gina; Frone, Megan N; Haley, Jeremy S; Ramos, Mark L; Mirshahi, Uyenlinh L; Astiazaran-Symonds, Esteban; Shandrina, Mariya; Urban, Gretchen; Rao, H Shanker; Stahl, Rick; Golden, Alicia; Yohe, Marielle E; Gross, Andrea M; Ding, Yi; Carey, David J; Gelb, Bruce D; Stewart, Douglas R

Genomic ascertainment of PALB2 -related cancer predisposition

PALB2相关癌症易感性的基因组鉴定

Stewart, Douglas R; Kim, Jung; Haley, Jeremy S; Li, Jiang; Sargen, Michael R; Hong, Hyokyoung; Tischkowitz, Marc; McReynolds, Lisa J; Carey, David J

Genetic variants predisposing to an increased risk of kidney stone disease.

导致肾结石疾病风险增加的基因变异

Lovegrove Catherine E, Goldsworthy Michelle, Haley Jeremy, Smelser Diane, Gorvin Caroline, Hannan Fadil M, Mahajan Anubha, Suri Mohnish, Sadeghi-Alavijeh Omid, Moochhala Shabbir H, Gale Daniel P, Carey David, Holmes Michael V, Furniss Dominic, Thakker Rajesh V, Howles Sarah A

Genome-first determination of the prevalence and penetrance of eight germline myeloid malignancy predisposition genes: a study of two population-based cohorts

基于基因组的8个种系髓系恶性肿瘤易感基因的患病率和外显率测定:一项基于两个人群队列的研究

Hendricks, Rachel M; Kim, Jung; Haley, Jeremy S; Ramos, Mark Louie; Mirshahi, Uyenlinh L; Carey, David J; Stewart, Douglas R; McReynolds, Lisa J

Germline Pathogenic DROSHA Variants Are Linked to Pineoblastoma and Wilms Tumor Predisposition

生殖系致病性DROSHA变异与松果体母细胞瘤和肾母细胞瘤易感性相关

Fiorica, Peter N; Golmard, Lisa; Kim, Jung; Bao, Riyue; Lin, Frank Y; Roy, Angshumoy; Pribnow, Allison; Perrino, Melissa R; Masliah-Planchon, Julien; Michalak-Provost, Sophie; Wong, Jennifer; Filser, Mathilde; Stoppa-Lyonnet, Dominique; Bourdeaut, Franck; Brahimi, Afane; Ingster, Olivier; Saulnier Sholler, Giselle; Jackson, Sarah A; Sasaki, Mark M; Fowler, Trent; Ng, Anita; Corbett, Ryan J; Kaufman, Rebecca S; Haley, Jeremy S; Carey, David J; Huang, Kuan-Lin; Diskin, Sharon J; Rokita, Jo Lynne; Al-Kateb, Hussam; McGee, Rose B; Schiffman, Joshua D; Chen, Kenneth S; Stewart, Douglas R; Williams Parsons, D; Plon, Sharon E; Schultz, Kris Ann P; Onel, Kenan

Genomic Ascertainment of CHEK2-Related Cancer Predisposition

CHEK2相关癌症易感性的基因组鉴定

Kim, Sun Young; Kim, Jung; Ramos, Mark; Haley, Jeremy; Smelser, Diane; Rao, H Shanker; Mirshahi, Uyenlinh L; Nathanson, Katherine L; Graubard, Barry I; Katki, Hormuzd A; Carey, David; Stewart, Douglas R

TERT c.3150 G > C (p.K1050N): a founder Ashkenazi Jewish variant associated with telomere biology disorders

TERT c.3150 G > C (p.K1050N):一种与端粒生物学疾病相关的德系犹太人创始变异

de Andrade, Kelvin César; Pinto, Emilia M; Zhao, Tianna; Zeigler, Logan P; Kim, Jung; Giri, Neelam; Haley, Jeremy S; McReynolds, Lisa J; Florez-Vargas, Oscar; Phillips, Aaron H; Kriwacki, Richard W; Akinniyi, Sherifa A; Cohen, Scott B; Emerson, Matthew R; Smelser, Diane T; Urban, Gretchen M; Fridman, Cintia; Zambetti, Gerard P; Bryan, Tracy M; Carey, David J; Garcia, Christine Kim; Stewart, Douglas R; Savage, Sharon A

Most Fanconi anemia heterozygotes are not at increased cancer risk: A genome-first DiscovEHR cohort population study

大多数范可尼贫血杂合子患者的癌症风险并未增加:一项基于基因组优先的DiscovEHR队列人群研究

Deng, Joseph; Altintas, Burak; Haley, Jeremy S; Kim, Jung; Ramos, Mark; Carey, David J; Stewart, Douglas R; McReynolds, Lisa J