Shane A. Mckee

Belfast, NIR, United Kingdom

Last Updated: 09/26/2026

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Found 63 publications

Abstracts of the 36th World Congress on Ultrasound in Obstetrics and Gynecology, 4-7 September 2026, London, UK.

Abstracts of the 36th World Congress on Ultrasound in Obstetrics and Gynecology, 4-7 September 2026, London, UK.

Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology

Published: July 06, 2026

Obtaining a Diagnostic Yield via Scan findings prior to the introduction of SEquencing retrospectivelY (ODYSSEY): a cohort study.

Obtaining a Diagnostic Yield via Scan findings prior to the introduction of SEquencing retrospectivelY (ODYSSEY): a cohort study.

Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology

Published: March 18, 2026

De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms.

De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms.

Journal: American journal of human genetics

Published: February 26, 2026

A Novel Approach to Interrogating Whole Genome Sequencing Data to Optimise Clinical Utility.

A Novel Approach to Interrogating Whole Genome Sequencing Data to Optimise Clinical Utility.

Journal: Molecular genetics & genomic medicine

Published: November 24, 2025

Systematic discovery of UFM1 receptors reveals a regulatory module in DNA repair directing non-homologous end-joining.

Systematic discovery of UFM1 receptors reveals a regulatory module in DNA repair directing non-homologous end-joining.

Journal: Nature communications

Published: September 22, 2025

Spectrum of Congenital Anomalies in Myhre Syndrome-Insights Into Effects Brought by Altered TGF-β Signaling via Gain-of-Function Variants in SMAD4.

Spectrum of Congenital Anomalies in Myhre Syndrome-Insights Into Effects Brought by Altered TGF-β Signaling via Gain-of-Function Variants in SMAD4.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: July 11, 2025

Loss of CTLH component MAEA impairs DNA repair and replication and leads to developmental delay.

Loss of CTLH component MAEA impairs DNA repair and replication and leads to developmental delay.

Journal: EMBO molecular medicine

Published: May 06, 2025

Integration of genomic medicine to mainstream patient care within the UK National Health Service.

Integration of genomic medicine to mainstream patient care within the UK National Health Service.

Journal: The Ulster medical journal

Published: November 28, 2024

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

De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms.

De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms.

Journal: American journal of human genetics

Published: August 28, 2024

Further delineation of the SCAF4-associated neurodevelopmental disorder.

Further delineation of the SCAF4-associated neurodevelopmental disorder.

Journal: European journal of human genetics : EJHG

Published: April 23, 2024

Showing 1-12 of 63

Last Updated: 09/26/2026