A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome

Carolin E. Sadowski, Svjetlana Lovric, Shazia Ashraf, +21

Journal of the American Society of Nephrology

GeneticsRenal PathologyGenetic EpidemiologySteroid-resistant Nephrotic SyndromePathology +17

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 nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome

Daniela A. Braun, Carolin E. Sadowski, Stefan Kohl, +24

Nature Genetics

Genetic DisorderGeneticsRenal PathologySteroid-resistant Nephrotic SyndromePathology +3

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

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

Svjetlana Lovric, Sara Gonçalves, Heon Yung Gee, +61

Journal of Clinical Investigation

GeneticsRenal PathologySteroid-resistant Nephrotic SyndromePathologyMolecular Genetics +15

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

Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis

Daniela A. Braun, Jennifer A. Lawson, Heon Yung Gee, +15

Clinical Journal of the American Society of Nephrology