Connaughton, Dervla M.

Top Publications

Top Publications Authored or Co-Authored by "Connaughton, Dervla M."

• Whole-exome sequencing identifies causative mutations in families with congenital anomalies of the kidney and urinary tract

  Journal of the American Society of Nephrology, Volume 29, No. 9, Year 2018, Citations 129
• Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

  American Journal of Human Genetics, Volume 107, No. 4, Year 2020, Citations 99
• Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT

  Genetics in Medicine, Volume 24, No. 2, Year 2022, Citations 45
• Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract

  European Urology Open Science, Volume 44, Year 2022, Citations 36
• CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations

  American Journal of Human Genetics, Volume 105, No. 6, Year 2019, Citations 33