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

Thirteen cases support the clinical significance of imprinting center 1 (IC1) microdeletions in Beckwith-Wiedemann syndrome

13例病例支持印记中心1(IC1)微缺失在贝克威思-威德曼综合征中的临床意义。

Ding, Qiliang; Stander, Zinandre; Elizalde, Brandon J; Stelmach, Erica S; Duncan, Jaime C; Vidal-Folch, Noemi; Hasadsri, Linda; Rumilla, Kandelaria M; Shen, Wei

SMN1 c.5C>G (p.Ala2Gly) missense variant, a challenging molecular SMA diagnosis associated with mild disease, preserves SMN nuclear gems in patient-specific fibroblasts

SMN1 c.5C>G (p.Ala2Gly) 错义变异是一种具有挑战性的分子 SMA 诊断方法,与轻度疾病相关,它保留了患者特异性成纤维细胞中的 SMN 核宝石。

Cook, Sara L; Stout, Christian; Kirkeby, Lindsey; Vidal-Folch, Noemi; Oglesbee, Devin; Hasadsri, Linda; Selcen, Duygu; Milone, Margherita; Anderson, Daniel; Staff, Nathan P

Rapid and Direct Detection of Congenital Cytomegalovirus Using a Commercial Real-Time PCR Assay

利用商业化实时PCR检测方法快速直接检测先天性巨细胞病毒

Fernholz, Emily C; Vidal-Folch, Noemi; Hasadsri, Linda

m.3243A > G-Induced Mitochondrial Dysfunction Impairs Human Neuronal Development and Reduces Neuronal Network Activity and Synchronicity

m.3243A > G 诱导的线粒体功能障碍会损害人类神经元发育并降低神经元网络活动和同步性

Teun M Klein Gunnewiek, Eline J H Van Hugte, Monica Frega, Gemma Solé Guardia, Katharina Foreman, Daan Panneman, Britt Mossink, Katrin Linda, Jason M Keller, Dirk Schubert, David Cassiman, Richard Rodenburg, Noemi Vidal Folch, Devin Oglesbee, Ester Perales-Clemente, Timothy J Nelson, Eva Morava, Nae

A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease

针对融合转录本鉴定的定制化方法可提高罕见遗传病的诊断率。

Oliver, Gavin R; Tang, Xiaojia; Schultz-Rogers, Laura E; Vidal-Folch, Noemi; Jenkinson, W Garrett; Schwab, Tanya L; Gaonkar, Krutika; Cousin, Margot A; Nair, Asha; Basu, Shubham; Chanana, Pritha; Oglesbee, Devin; Klee, Eric W