Edward M. Blair

Windmill Road
Oxford, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 61 publications

The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome.

The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome.

Journal: Genome medicine

Published: December 16, 2025

Hypertrophic cardiomyopathy caused by filamin-C variants has restrictive and extracardiac features and a distinctive ECG.

Hypertrophic cardiomyopathy caused by filamin-C variants has restrictive and extracardiac features and a distinctive ECG.

Journal: Heart rhythm

Published: September 15, 2025

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

Journal: Nature genetics

Published: September 02, 2025

Sudden cardiac death associated with a pathogenic genetic variant in HCN4.

Sudden cardiac death associated with a pathogenic genetic variant in HCN4.

Journal: The British journal of cardiology

Published: October 08, 2024

RICTOR variants are associated with neurodevelopmental disorders.

RICTOR variants are associated with neurodevelopmental disorders.

Journal: European journal of human genetics : EJHG

Published: August 01, 2024

A Promoter Deletion Confirms That MYBPC3 Haploinsufficiency Is Sufficient to Cause Hypertrophic Cardiomyopathy in Humans.

A Promoter Deletion Confirms That MYBPC3 Haploinsufficiency Is Sufficient to Cause Hypertrophic Cardiomyopathy in Humans.

Journal: Circulation. Genomic and precision medicine

Published: January 23, 2024

Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure.

Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: July 13, 2023

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.

Journal: Genome medicine

Published: December 14, 2022

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.

Journal: Nature communications

Published: October 31, 2022

In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2.

In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2.

Journal: Journal of medical genetics

Published: May 29, 2022

TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.

TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.

Journal: American journal of medical genetics. Part A

Published: January 12, 2022

The Musculoskeletal Manifestations of Marfan Syndrome: Diagnosis, Impact, and Management.

The Musculoskeletal Manifestations of Marfan Syndrome: Diagnosis, Impact, and Management.

Journal: Current rheumatology reports

Published: September 20, 2021

Showing 1-12 of 61

Last Updated: 09/26/2026