Caroline M. Kolvenbach

Monogenic causes of chronic kidney disease in adults

Dervla M. Connaughton, Claire Kennedy, Shirlee Shril et al. · Kidney International · 2019 · 262 citations

Glomerular Disease, Glomerulonephritis, Renal Disease +7

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 et al. · Journal of the American Society of Nephrology · 2018 · 202 citations

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

Dervla M. Connaughton, Rufeng Dai, Danielle Owen et al. · The American Journal of Human Genetics · 2020 · 49 citations · Full text

Medicine, Genetics, Developmental Biology +1

Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction

Caroline M. Kolvenbach, Gabriel C. Dworschak, Sandra Frese et al. · The American Journal of Human Genetics · 2019 · 44 citations · Full text

Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT

Steve Seltzsam, Chunyan Wang, Bixia Zheng et al. · Genetics in Medicine · 2021 · 36 citations · Full text

Allelic Variant, Genetic Disorder, Exome Sequencing +7