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

Reliable repurposing of the antibody interactome inside the cell

细胞内抗体相互作用组的可靠再利用

O'Shea, Caitlin M; Shahzad, Rushba; Aghasoleimani, Kimia; Newman, Stuart; Panmanee, Jiraporn; Schalkwyk, Leonard C; Brooke, Greg N; Benson, Fiona E; Trimmer, James S; Bosco, Daryl A; Fujisawa, Takao; Ichijo, Hidenori; Cashman, Neil R; Engel, Stanislav; Wright, Gareth S A

Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder

RAPGEF2基因中罕见的杂合新生变异与神经发育障碍相关。

Bereshneh, Ali H; Wilson, Kirkland A; Pan, Xueyang; Hannan, Shabab B; Cooper, Megan A; Diaz, Jullianne; Leon, Eyby; Moses, Tiana M; Azamian, Mahshid S; Scott, Daryl A; Billie Au, Ping Yee; Appendino, Juan Pablo; Scheffer, Ingrid E; Kaspi, Antony; Bahlo, Melanie; Hildebrand, Michael S; Morgan, Angela T; Ekure, Ekanem; Shulman, Joshua M; Hildebrandt, Friedhelm; Posey, Jennifer E; Kruszka, Paul; Vilain, Eric; Yamamoto, Shinya; Kanca, Oguz; Berger, Seth; Bellen, Hugo J

WNT4 deficiency impacts heart, diaphragm, and palate development: Insights from human genetics, machine learning, and mouse models

WNT4 缺陷影响心脏、膈肌和腭的发育:来自人类遗传学、机器学习和鼠模型的启示

Hernández-García, Andrés; Kim, Bum Jun; Chitayat, David; Shannon, Patrick; Hedges, Stephanie; Al Bandari, Maria; Guillen Sacoto, Maria J; Bates, Emily Anne; Ozekin, Yunus H; Faundes, Victor; Luna, Pamela N; Shaw, Chad A; Rasmussen, Tara L; Hsu, Chih-Wei; Scott, Daryl A

Tirzepatide-Induced Liver Injury: A Rare Complication

替泽帕肽引起的肝损伤:一种罕见的并发症

Spaeth, Lauren D; Jordan, Kim M; Barlow, Mariah P; Cottrell, Daryl A

Breaking β-sheets in FUS prion-like domain preserves phase separation and function but prevents aggregation and toxicity.

破坏 FUS 朊病毒样结构域中的 β 折叠可以保持相分离和功能,但可以防止聚集和毒性。

Wake Noah, Alcalde Juan, Jutzi Daniel, Bajaj Anjali, Kour Sukhleen, Barai Mayur, Weng Shuo-Lin, Cummings Samara, Zheng Tongyin, Anderson Eric N, Wang Szu-Huan, Puterbaugh Ryan, Bosco Daryl A, Schuster Benjamin S, Mittal Jeetain, Pandey Udai Bhan, Ruepp Marc-David, Fawzi Nicolas L

Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy

PRKCI 的罕见变异导致 Van der Woude 综合征和皮周病的其他特征

Robinson, Kelsey; Singh, Sunil K; Walkup, Rachel B; Fawwal, Dorelle V; Vilfort, Kendra M; Koloskee, Amanda; Fashina, Azeez; Adeyemo, Wasiu Lanre; Beaty, Terri H; Butali, Azeez; Buxó, Carmen J; Chung, Wendy K; Cutler, David J; Epstein, Michael P; Gasser, Brooklynn; Gowans, Lord J J; Hecht, Jacqueline T; Mankad, Anuj; Moreno Uribe, Lina; Scott, Daryl A; Shaw, Gary M; Thomas, Mary Ann; Weinberg, Seth M; Liao, Eric C; Brand, Harrison; Marazita, Mary L; Lipinski, Robert J; Murray, Jeffrey C; Cornell, Robert A; Leslie-Clarkson, Elizabeth J

Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+)

临床外显子组测序的有效性和涉及非孤立性先天性肾脏和泌尿道畸形(CAKUT+)的表型扩展

Rivera-Munoz, E Andres; Zhao, Xiaonan E; Rosenfeld, Jill A; Luna, Pamela N; Shaw, Chad A; Posey, Jennifer E; Scott, Daryl A

Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study

远程医疗在评估未确诊罕见病患者方面有效:一项未确诊疾病网络研究

Tan, Queenie K-G; McConkie-Rosell, Allyn; Brown, Rachel M; Spillmann, Rebecca C; Schoch, Kelly; Chanprasert, Sirisak; Acosta, Maria T; Toro, Camilo; Rosenfeld, Jill A; Orengo, James P; Scott, Daryl A; Granadillo, Jorge L; Sisco, Kathleen; Wegner, Daniel J; Tekin, Mustafa; Bivona, Stephanie; Peart, LéShon; Rodan, Lance; Bonner, Devon; Wheeler, Matthew T; Bernstein, Jonathan A; Ruzhnikov, Maura; Adams, David R; Hisama, Fuki M; Shashi, Vandana

Recessive loss-of-function variants in DPH1 identified as the molecular cause in a sibling pair previously diagnosed with Fine-Lubinsky syndrome

在先前被诊断为Fine-Lubinsky综合征的一对同胞中,DPH1基因的隐性功能缺失变异被确定为分子病因。

Waskow, Emily R; Emrick, Lisa T; Rosenfeld, Jill A; Ketkar, Shamika; Burrage, Lindsay C; Scott, Daryl A

MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability

MED12功能缺失变异是患有哈迪卡综合征和非特异性智力障碍的女性先天性膈疝的病因

Kao, Eric C; Mizerik, Elizabeth A; Bacino, Carlos A; Dai, Hongzheng; Vossaert, Liesbeth; Scott, Daryl A