Alex C. Magee

Belfast, NIR, United Kingdom

Last Updated: 09/26/2026

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Found 13 publications

Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

Journal: Oncotarget
Published: January 08, 2019

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.

Journal: American journal of human genetics
Published: October 10, 2016

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.

Journal: American journal of human genetics
Published: August 16, 2016

Beaulieu-Boycott-Innes syndrome: an intellectual disability syndrome with characteristic facies.

Beaulieu-Boycott-Innes syndrome: an intellectual disability syndrome with characteristic facies.

Journal: Clinical dysmorphology
Published: June 14, 2016

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.

Journal: Nature genetics
Published: May 18, 2016

Clinical and genetic aspects of KBG syndrome.

Clinical and genetic aspects of KBG syndrome.

Journal: American journal of medical genetics. Part A
Published: March 03, 2016

A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype.

A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype.

Journal: Journal of medical genetics
Published: November 10, 2015

De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.

De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.

Journal: American journal of medical genetics. Part A
Published: January 22, 2015

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

Journal: Journal of medical genetics
Published: August 16, 2014

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.

Journal: American journal of medical genetics. Part A
Published: April 26, 2013

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

Journal: Oncotarget
Published: December 23, 2011

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.

Journal: European journal of human genetics : EJHG
Published: December 01, 2011
Showing 1-12 of 13

Last Updated: 09/26/2026