Monogenic causes of chronic kidney disease in adults

Dervla M. Connaughton, Claire Kennedy, Shirlee Shril, +40

Kidney International

Glomerular DiseaseGlomerulonephritisRenal DiseaseMedicineKidney Failure +5

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

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

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

Ingrid S. Paine, Jennifer E. Posey, Christopher M. Grochowski, +47

The American Journal of Human Genetics

Functional GenomicsMedicineGeneticsGene CharacterizationPathway Analysis +4

A Dominant Negative Heterozygous G87R Mutation in the Zinc Transporter, ZnT-2 (SLC30A2), Results in Transient Neonatal Zinc Deficiency

Inbal Lasry, Young Ah Seo, Hadas Ityel, +11

Journal of Biological Chemistry

A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling

Asaf Vivante, Nina Mann, Hagith Yonath, +26

Journal of the American Society of Nephrology

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

Dervla M. Connaughton, Rufeng Dai, Danielle Owen, +93

The American Journal of Human Genetics

MedicineGeneticsDevelopmental BiologyNeurogenetics

Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases

Asaf Vivante, Hadas Ityel, Ben Pode‐Shakked, +15

Pediatric Nephrology

Mendelian DisorderGenetic DisorderExome SequencingGeneticsMedicine +7

CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations

Nina Mann, Franziska Kause, Erik Henze, +30

The American Journal of Human Genetics

Autonomic SystemMolecular PhysiologyPhysiologyAcetylcholine Receptor MutationsNeuropeptide Receptor +4