Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome

Jillian K. Warejko, Weizhen Tan, Ankana Daga, +58

Clinical Journal of the American Society of Nephrology

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Daniela A. Braun, Jia Rao, Géraldine Mollet, +98

Nature Genetics

Developmental BiologyMendelian DisorderGenetic DisorderGeneticsNephrotic Syndrome +3

Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract

Amelie T. van der Ven, Dervla M. Connaughton, Hadas Ityel, +60

Journal of the American Society of Nephrology

Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis

Ankana Daga, Amar J. Majmundar, Daniela A. Braun, +35

Kidney International

UrologyMendelian DisorderMedicineGeneticsNext-generation Sequencing +10

Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients

Nina Mann, Daniela A. Braun, Kassaundra Amann, +32

Journal of the American Society of Nephrology

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome

Daniela A. Braun, Svjetlana Lovric, David Schapiro, +55

Journal of Clinical Investigation

Glomerular DiseaseGeneticsRenal PathologySteroid-resistant Nephrotic SyndromeRenal Inflammation +20

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment

Shazia Ashraf, Hiroki Kudo, Jia Rao, +62

Nature Communications

Mutations in <i>WDR4</i> as a new cause of Galloway–Mowat syndrome

Daniela A. Braun, Shirlee Shril, Aditi Sinha, +22

American Journal of Medical Genetics Part A

GeneticsGenetic EpidemiologyPathologyMolecular GeneticsDisease Gene Identification +18

An international multicenter study comparing arrhythmia prevalence between the intracardiac lateral tunnel and the extracardiac conduit type of Fontan operations

Seshadri Balaji, Ankana Daga, David J. Bradley, +14

Journal of Thoracic and Cardiovascular Surgery

Electrophysiological EvaluationFontan OperationsCardiovascular DiseaseDevice TherapyIntracardiac Lateral Tunnel +10

GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome

Tobias Hermle, Ronen Schneider, David Schapiro, +25

Journal of the American Society of Nephrology