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

Multilevel impairment of mitochondrial respiration with sex-specific signatures in inclusion body myositis

包涵体肌炎中线粒体呼吸的多层次损伤及其性别特异性特征

Shammas, Ibrahim; Iaali, Hazem; Watzlawik, Jens O; Folch, Noemi Vidal; Dasari, Surendra; Preston, Graeme; Nguyen, Thi Kim Oanh; Springer, Wolfdieter; Kozicz, Tamas; Hasadsri, Linda; Trushina, Eugenia; Lanza, Ian R; Naddaf, Elie

Feasibility of DNA-Based Diagnosis of Fibrinogen A Alpha-Chain Amyloidosis From Paraffin-Embedded Kidney Tissue

基于DNA的石蜡包埋肾组织纤维蛋白原Aα链淀粉样变性诊断的可行性

Buglioni, Alessia; Dasari, Surendra; Bu, Lihong; Sethi, Sanjeev; Moyer, Ann M; Baudhuin, Linnea M; Hasadsri, Linda; Leung, Nelson; McPhail, Ellen D; Nasr, Samih H

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

First Reported Case of Dual Hereditary Gelsolin and Transthyretin Wild-Type Cardiac Amyloidosis in a Man in his late 40s

首例报道的40多岁男性双重遗传性凝溶胶蛋白和转甲状腺素蛋白野生型心脏淀粉样变性病例

Theis, Jeanne L; Dasari, Surendra; Theis, Jason D; Vrana, Julie A; Hasadsri, Linda; Fernandez, Joel; McPhail, Ellen D

Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder

CUL3基因功能缺失变异导致综合征性神经发育障碍

Blackburn, Patrick R; Ebstein, Frédéric; Hsieh, Tzung-Chien; Motta, Marialetizia; Radio, Francesca Clementina; Herkert, Johanna C; Rinne, Tuula; Thiffault, Isabelle; Rapp, Michele; Alders, Mariel; Maas, Saskia; Gerard, Bénédicte; Smol, Thomas; Vincent-Delorme, Catherine; Cogné, Benjamin; Isidor, Bertrand; Vincent, Marie; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Joset, Pascal; Ferrero, Giovanni Battista; Ciolfi, Andrea; Husson, Thomas; Guerrot, Anne-Marie; Bacino, Carlos; Macmurdo, Colleen; Thompson, Stephanie S; Rosenfeld, Jill A; Faivre, Laurence; Mau-Them, Frederic Tran; Deb, Wallid; Vignard, Virginie; Agrawal, Pankaj B; Madden, Jill A; Goldenberg, Alice; Lecoquierre, François; Zech, Michael; Prokisch, Holger; Necpál, Ján; Jech, Robert; Winkelmann, Juliane; Koprušáková, Monika Turčanová; Konstantopoulou, Vassiliki; Younce, John R; Shinawi, Marwan; Mighton, Chloe; Fung, Charlotte; Morel, Chantal F; Lerner-Ellis, Jordan; DiTroia, Stephanie; Barth, Magalie; Bonneau, Dominique; Krapels, Ingrid; Stegmann, Alexander P A; van der Schoot, Vyne; Brunet, Theresa; Bußmann, Cornelia; Mignot, Cyril; Zampino, Giuseppe; Wortmann, Saskia B; Mayr, Johannes A; Feichtinger, René G; Courtin, Thomas; Ravelli, Claudia; Keren, Boris; Ziegler, Alban; Hasadsri, Linda; Pichurin, Pavel N; Klee, Eric W; Grand, Katheryn; Sanchez-Lara, Pedro A; Krüger, Elke; Bézieau, Stéphane; Klinkhammer, Hannah; Krawitz, Peter Michael; Eichler, Evan E; Tartaglia, Marco; Küry, Sébastien; Wang, Tianyun

Accurate and Automated Genotyping of the CFTR Poly-T/TG Tract with CFTR-TIPS

利用 CFTR-TIPS 对 CFTR Poly-T/TG 序列进行精确自动化的基因分型

Ding, Qiliang; Hofich, Christopher D; Kellogg, Tifani B; Kuennen, Rhonda K; Paxton, Kaitlin N; Thieke, Sarah M; Rumilla, Kandelaria M; Hasadsri, Linda

A supervised learning method for classifying methylation disorders

一种用于甲基化障碍分类的监督学习方法

Walsh, Jesse R; Sun, Guangchao; Balan, Jagadheshwar; Hardcastle, Jayson; Vollenweider, Jason; Jerde, Calvin; Rumilla, Kandelaria; Koellner, Christy; Koleilat, Alaa; Hasadsri, Linda; Kipp, Benjamin; Jenkinson, Garrett; Klee, Eric

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

Clinical characterization of primary hyperoxaluria type 3 in comparison with types 1 and 2

原发性高草酸尿症3型与1型和2型的临床特征比较

Singh, Prince; Viehman, Jason K; Mehta, Ramila A; Cogal, Andrea G; Hasadsri, Linda; Oglesbee, Devin; Olson, Julie B; Seide, Barbara M; Sas, David J; Harris, Peter C; Lieske, John C; Milliner, Dawn S