Victoria H. Mckay

Crown Street
Liverpool, ENG, United Kingdom

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 21 publications

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: American journal of human genetics

Published: February 15, 2026

Multidisciplinary Care for Moebius Syndrome and Related Disorders: Building a Management Protocol.

Multidisciplinary Care for Moebius Syndrome and Related Disorders: Building a Management Protocol.

Journal: Journal of clinical medicine

Published: April 06, 2024

Integrated Care Systems and the Aortovascular Hub.

Integrated Care Systems and the Aortovascular Hub.

Journal: Thrombosis and haemostasis

Published: August 18, 2021

Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.

Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.

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

Published: August 21, 2020

A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley-Kendall dysplasia are allelic disorders.

A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley-Kendall dysplasia are allelic disorders.

Journal: Molecular genetics & genomic medicine

Published: January 28, 2020

Clinical predictors of informative genetic testing in hypertrophic cardiomyopathy.

Clinical predictors of informative genetic testing in hypertrophic cardiomyopathy.

Journal: European journal of preventive cardiology

Published: October 24, 2018

Will the real Moebius syndrome please stand up? A systematic review of the literature and statistical cluster analysis of clinical features.

Will the real Moebius syndrome please stand up? A systematic review of the literature and statistical cluster analysis of clinical features.

Journal: American journal of medical genetics. Part A

Published: May 18, 2018

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.

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

Published: March 09, 2018

New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.

New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.

Journal: Human genetics

Published: November 22, 2017

Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.

Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.

Journal: Prenatal diagnosis

Published: September 28, 2017

Showing 1-12 of 21

Last Updated: 09/26/2026