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

Nephrotic syndrome genomic discovery in the Mass General Brigham Biobank identifies monoallelic MEFV variants as a risk factor for focal segmental glomerulosclerosis

麻省总医院布里格姆生物样本库的肾病综合征基因组学发现表明,单等位基因MEFV变异是局灶节段性肾小球硬化症的风险因素。

Wongboonsin, Janewit; Gibson, Kristen M; Ke, Juntao; Sentell, Zachary T; Arcila-Galvis, Juliana E; Koyama, Satoshi; Greenberg, Anya; Reynolds, Kaylia M; Montini, Giovanni; Magistroni, Riccardo; Mitrotti, Adele; Gesualdo, Loreto; Pezzuto, Alessandro; Peruzzi, Licia; Caliskan, Yasar; Onuchic-Whitford, Ana C; Bunlungsup, Srichan; McNulty, Michelle; Gbadegesin, Rasheed; Saleem, Moin A; Pollak, Martin R; Hildebrandt, Friedhelm; Natarajan, Pradeep; Lee, Dongwon; Nigwekar, Sagar U; Sayer, John A; Sanna-Cherchi, Simone; Sampson, Matthew G

Biallelic TMEM126B Variants as a Novel Cause of Kidney Failure-Implications for Mitochondrial Genetic Testing in Nephrology

双等位基因TMEM126B变异是肾衰竭的新病因——对肾脏病学线粒体基因检测的启示

Sentell, Zachary T; Cheung, Anthony C T; Russo, Felicia; Bernard, Chantal; Suri, Rita; Cybulsky, Andrey V; Buhas, Daniela; Kitzler, Thomas M

Urine-derived renal epithelial cells for deep phenotyping and transcriptomic response to therapy in Fabry disease.

尿源性肾上皮细胞用于法布里病的深度表型分析和转录组治疗反应研究

Sudhindar Praveen Dhondurao, Orr Sarah E, Miller-Hodges Eve, Molinari Elisa, Wood Katrina, Srivastava Shalabh, Miles Colin G, Mabillard Holly R, Sentell Zachary T, Trevisan-Herraz Marco, Arcila-Galvis Juliana E, Sayer John A

Urinary renal epithelial cells can be used for NPHP1 phenotyping and a personalized therapeutic strategy

尿路肾脏上皮细胞可用于NPHP1表型分析和个体化治疗策略。

Sudhindar, Praveen Dhondurao; Olinger, Eric; Sentell, Zachary T; Mabillard, Holly; Dicka, Barbora; Wood, Katrina; Rutland, Dominic; Collins, Catherine; Trevisan-Herraz, Marco; Sayer, John A; Arcila-Galvis, Juliana E

Ethical, legal, and policy dimensions and contentions for reanalysis and reinterpretation of clinical genetic testing results

对临床基因检测结果进行重新分析和重新解读的伦理、法律和政策层面及争议

Sentell, Zachary T; Zawati, Ma'n H

Expanding the phenotypic spectrum of CC2D2A-related ciliopathies: a rare homozygous nonsense variant in a patient with suspected nephronophthisis

扩展CC2D2A相关纤毛病的表型谱:一例疑似肾痨患者的罕见纯合无义变异

Sentell, Zachary T; Nurcombe, Zachary W; Mougharbel, Lina; Anastasio, Natascia; Rivière, Jean-Baptiste; Babayeva, Sima; Goodyer, Paul R; Torban, Elena; Kitzler, Thomas M

Phenotypic Discordance among Siblings with Autosomal Recessive Polycystic Kidney Disease: Case Report and Review of the Literature

常染色体隐性多囊肾病同胞表型不一致:病例报告及文献综述

Henein, Marc; Russo, Felicia; Sentell, Zachary T; Goupil, Rémi; Kitzler, Thomas M