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

Novel Variants in VARS2 Demonstrate the Phenotypic Variability of a Rare Mitochondriopathy That Responds to Valine Supplementation

VARS2 中的新变异揭示了一种罕见线粒体病的表型变异性,该病对缬氨酸补充剂有反应

Marquez, Jonathan; Viviano, Stephen; Rahman, Fahmid; Strohbehn, Samuel D; Allworth, Aimee; Perez, Norma; Saneto, Russell P; Anna, Scott 1st; Penón Portmann, Mónica; Blue, Elizabeth E; Glass, Ian A; Deniz, Engin; Shelkowitz, Emily

Polyamine metabolism is dysregulated in COXFA4-related mitochondrial disease

COXFA4相关线粒体疾病中多胺代谢紊乱

Marquez, Jonathan; Viviano, Stephen; Beckman, Erika; Thies, Jenny; Friedland-Little, Joshua; Lam, Christina T; Deniz, Engin; Shelkowitz, Emily

Case Report: An atypical case of ARPKD highlights the utility and challenges of implementing genetic testing in cystic kidney disease

病例报告:一例非典型ARPKD病例凸显了在囊性肾病中实施基因检测的实用性和挑战。

Marquez, Jonathan; Hawkins, Lauren M; Beck, Anita E; Dipple, Katrina M; Glass, Ian A; Keefe, Alexandra C; Nguyen, Elizabeth D

Case Report: a novel variant in WT1 leads to focal segmental glomerulosclerosis and uterovaginal anomalies through exon skipping

病例报告:WT1基因的一种新变异通过外显子跳跃导致局灶节段性肾小球硬化症和子宫阴道畸形

Marquez, Jonathan; O'Sullivan, Lauren; Squire, Audrey E; Ryan, Ginny L; Debiec, Katherine E; Amies Oelschlager, Anne-Marie; Adam, Margaret P

The dishevelled associated activator of morphogenesis protein 2 (Daam2) regulates neural tube closure

形态发生激活蛋白2 (Daam2) 调控神经管闭合

Nama, Kaushik; Su, Baihao; Marquez, Jonathan; Khokha, Mustafa K; Habas, Raymond

Expanding EMC foldopathies: Topogenesis deficits alter the neural crest

EMC褶皱病变的扩展:拓扑发生缺陷会改变神经嵴。

Marquez, Jonathan; Aslam, Faiza; Khokha, Mustafa K

Nucleoporin NUP205 plays a critical role in cilia and congenital disease

核孔蛋白NUP205在纤毛和先天性疾病中起着关键作用。

Marquez, Jonathan; Bhattacharya, Dipankan; Lusk, C Patrick; Khokha, Mustafa K

Xenopus: Driving the Discovery of Novel Genes in Patient Disease and Their Underlying Pathological Mechanisms Relevant for Organogenesis

非洲爪蟾:推动发现与器官发生相关的患者疾病中的新基因及其潜在病理机制。

Hwang, Woong Y; Marquez, Jonathan; Khokha, Mustafa K

Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report

类固醇抵抗性肾病综合征基因NUP93中新突变和表型的鉴定:病例报告

Sandokji, Ibrahim; Marquez, Jonathan; Ji, Weizhen; Zerillo, Cynthia A; Konstantino, Monica; Lakhani, Saquib A; Khokha, Mustafa K; Warejko, Jillian K

Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.

外显子组测序发现双等位基因 MSH3 生殖系突变是结直肠腺瘤性息肉病的隐性亚型

Adam Ronja, Spier Isabel, Zhao Bixiao, Kloth Michael, Marquez Jonathan, Hinrichsen Inga, Kirfel Jutta, Tafazzoli Aylar, Horpaopan Sukanya, Uhlhaas Siegfried, Stienen Dietlinde, Friedrichs Nicolaus, Altmüller Janine, Laner Andreas, Holzapfel Stefanie, Peters Sophia, Kayser Katrin, Thiele Holger, Holinski-Feder Elke, Marra Giancarlo, Kristiansen Glen, Nöthen Markus M, Büttner Reinhard, Möslein Gabriela, Betz Regina C, Brieger Angela, Lifton Richard P, Aretz Stefan