Deirdre E. Donnelly

Lisburn Road
Belfast, NIR, United Kingdom

Last Updated: 09/26/2026

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Found 37 publications

Pancreatic neuroendocrine tumors in patients with tuberous sclerosis: a multicenter study and systematic review.

Pancreatic neuroendocrine tumors in patients with tuberous sclerosis: a multicenter study and systematic review.

Journal: Journal of the Endocrine Society

Published: July 29, 2026

Case report of three siblings with nudix hydrolase 2 -related neurodevelopmental disorder.

Case report of three siblings with nudix hydrolase 2 -related neurodevelopmental disorder.

Journal: Clinical dysmorphology

Published: March 12, 2026

Everolimus for the treatment of neuropsychological deficits in tuberous sclerosis complex: findings from the TRON multicentre randomised controlled trial.

Everolimus for the treatment of neuropsychological deficits in tuberous sclerosis complex: findings from the TRON multicentre randomised controlled trial.

Journal: Journal of medical genetics

Published: January 24, 2026

Priority European strategies for sustainable access to high-quality genetic counselling in cancer: A Delphi study.

Priority European strategies for sustainable access to high-quality genetic counselling in cancer: A Delphi study.

Journal: European journal of human genetics : EJHG

Published: October 14, 2025

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

Journal: medRxiv : the preprint server for health sciences

Published: April 16, 2025

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

Journal: American journal of human genetics

Published: April 01, 2025

PPA2-associated cardiac arrest survivor.

PPA2-associated cardiac arrest survivor.

Journal: Cardiology in the young

Published: January 30, 2025

Mutations in the U2 snRNA gene RNU2-2P cause a severe neurodevelopmental disorder with prominent epilepsy.

Mutations in the U2 snRNA gene RNU2-2P cause a severe neurodevelopmental disorder with prominent epilepsy.

Journal: medRxiv : the preprint server for health sciences

Published: September 16, 2024

Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy.

Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy.

Journal: Nature genetics

Published: September 13, 2024

DDX3X-related neurodevelopmental disorder in males - presenting a new cohort of 19 males and a literature review.

DDX3X-related neurodevelopmental disorder in males - presenting a new cohort of 19 males and a literature review.

Journal: European journal of human genetics : EJHG

Published: May 31, 2024

Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling.

Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling.

Journal: American journal of human genetics

Published: April 29, 2024

Vascular Ehlers Danlos Syndrome and Chromosome 2q32 Microdeletion Syndrome.

Vascular Ehlers Danlos Syndrome and Chromosome 2q32 Microdeletion Syndrome.

Journal: European journal of human genetics : EJHG

Published: April 19, 2024

Showing 1-12 of 37

Last Updated: 09/26/2026