Dervla Connaghton

Dervla Connaghton

Principal Investigator

Biography

Dr. Dervla Connaughton is an Assistant Professor at Western University and the Eugen Drewlo Chair for Kidney Research and Innovation. She serves as the Clinical Lead for the Renal Genetics Program in Southwestern Ontario and the Director of Living Kidney Donation at London Health Sciences Centre. With extensive international training, including a PhD from Trinity College Dublin and a fellowship at Harvard Medical School, she specializes in the genetic basis of chronic kidney disease. Her research and clinical practice focus on using high-throughput sequencing to characterize inherited kidney diseases in both pediatric and adult populations.

Active studies

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Publications (last 3 years)

17 found
20259 items

Risk for Scrotal Surgery After Laparoscopic Donor Nephrectomy : A Population-Based Cohort Study.

Garg AX, McArthur E, Sontrop JM, Boudville N, Connaughton DM, Cuerden MS, Feldman LS, Lam NN, Lentine KL, Nguan C, Parikh CR, Segev DL, Sener A, Smith G, Wang C, Weir MA, Yohanna S, Young A, Naylor KL

Ann Intern Med • 2025

Framework for standardized genetic testing recommendations for chronic kidney disease in Ontario.

Du A, Lemay K, Bagga A, Bhola PT, Brown PA, Colaiacovo S, Charames GS, Lemaire M, Lanktree MB, Schenkel L, Peña LG, Riddell S, Watkins N, Young T, Yu W, Bell K, Kim RH, Connaughton DM, Ontario Health Provincial Genetics Program Renal Genetics Expert Group

Genet Med Open • 2025

Models of Care for the Implementation of Genetic Testing in Nephrology.

Connaughton DM, Mallett AJ

Semin Nephrol • 2025

Autosomal recessive (type 1B) pseudohypoaldosteronism: a novel mutation and its management.

Alshaikh R, Moresco A, Abujabal MM, Connaughton D, Filler G

BMJ Case Rep • 2025

Genetic Testing in Adults over 50 Years with Chronic Kidney Disease: Diagnostic Yield and Clinical Implications in a Specialized Kidney Genetics Clinic.

Schott C, Alajmi M, Bukhari M, Relouw S, Wang J, McIntyre AD, Baker C, Colaiacovo S, Campagnolo C, Almada Offerni G, Blake PG, Chiu M, Cowan A, Garg AX, Gunaratnam L, House AA, Huang SS, Iyer H, Jain AK, Jevnikar AM, Johnson J, Lotfy K, Moist L, Rehman F, Roshanov PS, Sultan N, Weir MA, Basharat P, Florendo-Cumbermack A, Khan T, Thain J, Kidd K, Kmoch S, Bleyer AJ, Bhangu J, Hegele RA, Connaughton DM

Genes (Basel) • 2025

Trio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT families.

Merz LM, Kolvenbach CM, Wang C, Mertens ND, Seltzsam S, Mansour B, Zheng B, Schneider S, Schierbaum L, Hölzel S, Salmanullah D, Pantel D, Kalkar G, Connaughton DM, Mann N, Wu CW, Kause F, Nakayama M, Dai R, Schneider R, Buerger F, Nicolas-Frank C, Yousef K, Lemberg K, Saida K, Yu S, Elmubarak I, Franken GAC, Lomjansook K, Braun A, Bauer SB, Rodig NM, Somers MJG, Traum AZ, Stein DR, Daga A, Baum MA, Daouk GH, Awad HS, Eid LA, El Desoky S, Shalaby MA, Kari JA, Ooda S, Fathy HM, Soliman NA, Nabhan M, Abdelrahman S, Hilger AC, Mane SM, Ferguson MA, Tasic V, Shril S, Hildebrandt F

Genet Med • 2025

The Flow of Living Kidney Donor Candidates Through the Evaluation Process: A Single-Center Experience in Ontario, Canada.

Habbous S, Montesi B, Masse C, Weernink C, Sarma S, Begen MA, Lam NN, Dipchand C, Yohanna S, Connaughton DM, Barnieh L, Garg AX

Can J Kidney Health Dis • 2025

Implementation of a Kidney Genetic Service Into the Diagnostic Pathway for Patients With Chronic Kidney Disease in Canada.

Schott C, Arnaldi M, Baker C, Wang J, McIntyre AD, Colaiacovo S, Relouw S, Offerni GA, Campagnolo C, Van Nynatten LR, Pourtousi A, Drago-Catalfo A, Lebedeva V, Chiu M, Cowan A, Filler G, Gunaratnam L, House AA, Huang S, Iyer H, Jain AK, Jevnikar AM, Lotfy K, Moist L, Rehman F, Roshanov PS, Sharma AP, Weir MA, Kidd K, Bleyer AJ, Hegele RA, Connaughton DM

Kidney Int Rep • 2025

Utility of Genetic Testing in Adults with CKD: A Systematic Review and Meta-Analysis.

Schott C, Lebedeva V, Taylor C, Abumelha S, Roshanov PS, Connaughton DM

Clin J Am Soc Nephrol • 2025

20243 items

Vascular calcification in chronic kidney disease associated with pathogenic variants in ABCC6.

Schott C, Dilliott AA, Wang J, McIntyre AD, Son S, Colaiacovo S, Baker C, Gunaratnam L, House AA, Susan Huang SH, Iyer H, Johnson J, Lotfy K, Masellis M, Munoz DP, Rehman F, Roshanov PS, Swartz RH, Weir MA, Hegele RA, Connaughton DM

Gene • 2024

Reclassification of Genetic Testing Results: A Case Report Demonstrating the Need for Structured Re-Evaluation of Genetic Findings.

Schott C, Colaiacovo S, Baker C, Weir MA, Connaughton DM

Can J Kidney Health Dis • 2024

Teaching NeuroImage: Extensive Brainstem and Striatal Involvement in Neuropsychiatric Systemic Lupus Erythematosus.

Branch A, Nuaaman MM, Appleton CT, Connaughton DM, Basmaji J, Chan TLH, Budhram A

Neurology • 2024

20235 items

Maternal health and pregnancy outcomes in autosomal dominant tubulointerstitial kidney disease.

Bleyer AJ, Kidd KO, Williams AH, Johnson E, Robins V, Martin L, Taylor A, Kim A, Bowline I, Connaughton DM, Langefeld CD, Zivna M, Kmoch S

Obstet Med • 2023

Prioritization of Monogenic Congenital Anomalies of the Kidney and Urinary Tract Candidate Genes with Existing Single-Cell Transcriptomics Data of the Human Fetal Kidney.

Schierbaum LM, Schneider S, Buerger F, Halawi AA, Seltzsam S, Wang C, Zheng B, Wu CW, Dai R, Connaughton DM, Salmanullah D, Nakayama M, Mann N, Shril S, Hildebrandt F

Nephron • 2023

Genotypic analysis of a large cohort of patients with suspected atypical hemolytic uremic syndrome.

Connaughton DM, Bhai P, Isenring P, Mahdi M, Sadikovic B, Schenkel LC

J Mol Med (Berl) • 2023

Recessive CHRM5 variant as a potential cause of neurogenic bladder.

Schneider S, Schierbaum L, Burger WAC, Seltzsam S, Wang C, Zheng B, Wu CW, Nakayama M, Connaughton DM, Mann N, Shalaby MA, Kari JA, ElDesoky S, Tasic V, Eid LA, Shril S, Thal DM, Hildebrandt F

Am J Med Genet A • 2023

Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs.

Klämbt V, Buerger F, Wang C, Naert T, Richter K, Nauth T, Weiss AC, Sieckmann T, Lai E, Connaughton DM, Seltzsam S, Mann N, Majmundar AJ, Wu CW, Onuchic-Whitford AC, Shril S, Schneider S, Schierbaum L, Dai R, Bekheirnia MR, Joosten M, Shlomovitz O, Vivante A, Banne E, Mane S, Lifton RP, Kirschner KM, Kispert A, Rosenberger G, Fischer KD, Lienkamp SS, Zegers MMP, Hildebrandt F

J Am Soc Nephrol • 2023

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