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

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

Endothelial HIF-2α regulates murine pathological angiogenesis and revascularization processes

Nicolas Skuli, Amar J. Majmundar, Bryan L. Krock, +11

Journal of Clinical Investigation

Dll4 ExpressionVascular CompromiseTumor BiologyOxidative StressTranscriptional Regulation +16

HIF2α inhibition promotes p53 pathway activity, tumor cell death, and radiation responses

Jessica A. Bertout, Amar J. Majmundar, John D. Gordan, +6

Proceedings of the National Academy of Sciences

Hif2alpha InhibitionApoptosisCell DeathCancer BiologyTumor Biology +14

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

O₂ Regulates Skeletal Muscle Progenitor Differentiation through Phosphatidylinositol 3-Kinase/AKT Signaling

Amar J. Majmundar, Nicolas Skuli, Rickson C. Mesquita, +4

Molecular and Cellular Biology

Muscle FunctionSkeletal Muscle DiseasesCell SpecializationCellular PhysiologyRegenerative Medicine +26