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

Reduction in ACE2 expression in peripheral blood mononuclear cells during COVID-19 - implications for post COVID-19 conditions.

COVID-19 期间外周血单核细胞中 ACE2 表达降低——对 COVID-19 后遗症的影响

Ahmed Gulrayz, Abdelgadir Yasir, Abdelghani Amro, Simpson Pippa, Barbeau Jody, Basel Donald, Barrios Christy S, Smith Brandon A, Schilter Kala F, Udani Rupa, Reddi Honey V, Willoughby Rodney E

Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel

庞贝病变异分类;ClinGen溶酶体疾病变异注释专家组的ACMG/AMP规范

Goldstein, Jennifer L; McGlaughon, Jennifer; Kanavy, Dona; Goomber, Shelly; Pan, Yinghong; Deml, Brett; Donti, Taraka; Kearns, Liz; Seifert, Bryce A; Schachter, Miriam; Son, Rachel G; Thaxton, Courtney; Udani, Rupa; Bali, Deeksha; Baudet, Heather; Caggana, Michele; Hung, Christina; Kyriakopoulou, Lianna; Rosenblum, Lynne; Steiner, Robert; Pinto E Vairo, Filippo; Wang, Yang; Watson, Michael; Fernandez, Raquel; Weaver, Meredith; Clarke, Lorne; Rehder, Catherine

Long-term retinal imaging of a case of suspected congenital rubella infection

对疑似先天性风疹感染病例进行长期视网膜成像

Langlo, Christopher S; Trotter, Alana; Reddi, Honey V; Schilter, Kala F; Tyler, Rebecca C; Udani, Rupa; Neitz, Maureen; Carroll, Joseph; Connor, Thomas B

CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases

CAGI SickKids挑战:评估基于未确诊疾病儿童的临床和基因组数据得出的表型和变异预测

Kasak, Laura; Hunter, Jesse M; Udani, Rupa; Bakolitsa, Constantina; Hu, Zhiqiang; Adhikari, Aashish N; Babbi, Giulia; Casadio, Rita; Gough, Julian; Guerrero, Rafael F; Jiang, Yuxiang; Joseph, Thomas; Katsonis, Panagiotis; Kotte, Sujatha; Kundu, Kunal; Lichtarge, Olivier; Martelli, Pier Luigi; Mooney, Sean D; Moult, John; Pal, Lipika R; Poitras, Jennifer; Radivojac, Predrag; Rao, Aditya; Sivadasan, Naveen; Sunderam, Uma; Saipradeep, V G; Yin, Yizhou; Zaucha, Jan; Brenner, Steven E; Meyn, M Stephen

Common VWF sequence variants associated with higher VWF and FVIII are less frequent in subjects diagnosed with type 1 VWD

与较高 VWF 和 FVIII 水平相关的常见 VWF 序列变异在 1 型血管性血友病患者中较少见。

Flood, Veronica H; Johnsen, Jill M; Kochelek, Caroline; Slobodianuk, Tricia L; Christopherson, Pamela A; Haberichter, Sandra L; Udani, Rupa; Bellissimo, Daniel B; Friedman, Kenneth D; Montgomery, Robert R

MarA-like regulator of multidrug resistance in Yersinia pestis

鼠疫耶尔森菌中MarA样多药耐药性调节因子

Udani, Rupa A; Levy, Stuart B