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Adele Mitrotti

boston children's hospital
H指数:15
被引数:2,244

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

在Mass General Brigham生物银行中发现的肾病综合征基因组学鉴定了单等位基因MEFV变异作为局灶节段性肾小球硬化的风险因素

2026-04-010
PRE
Author Correction: Exome analysis links kidney malformations to developmental disorders and reveals causal genes

作者更正:外显子分析将肾脏畸形与发育障碍联系起来,并揭示了因果基因

2025-10-090
OAAI
Natural History and Clinicopathological Associations of TRPC6-Associated Podocytopathy
2024-10-010
PRE
Autoantibodies Targeting Nephrin in Podocytopathies
2024-08-0123
PRE
Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease
2023-11-3017
OAAI
Implementation and Feasibility of Clinical Genome Sequencing Embedded Into the Outpatient Nephrology Care for Patients With Proteinuric Kidney Disease
2023-08-012
OAAI
Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy
2023-06-1961
PRE
Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome

多种群全基因组关联研究表明免疫和非免疫因素与儿童激素敏感型肾病综合征有关

2023-04-2917
OAAI
Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis
2023-03-305
OA
The frequency of rare and monogenic diseases in pediatric organ transplant recipients in Italy
2021-09-047
OAAI
Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux
2021-02-1720
OA
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis
2021-02-0126
OAAI
The copy number variation landscape of congenital anomalies of the kidney and urinary tract (vol 51, pg 117, 2018)
2019-02-274
OAAI
Diagnostic Utility of Exome Sequencing for Kidney Disease
2019-01-10446
OAAI
The copy number variation landscape of congenital anomalies of the kidney and urinary tract
2018-12-21151
OAAI
Whole-Exome Sequencing in Adults With Chronic Kidney Disease A Pilot Study
2018-01-16150
OAAI
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations (vol 101, pg 789, 2017)
2017-12-0119
OAAI