List of works - Matthew Hunter

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

scientific article

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

scientific article

FOXP1mutations cause intellectual disability and a recognizable phenotype

scientific article published on 24 September 2013

Phenotypic insights into ADCY5-associated disease.

scientific article published on 08 April 2016

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability

scientific journal article

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

scientific article

A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33

scientific article (publication date: 27 August 2010)

Maternal attitudes to newborn screening for fragile X syndrome

scientific article published on 09 January 2013

Partially methylated alleles, microdeletion, and tissue mosaicism in a fragile X male with tremor and ataxia at 30 years of age: A case report

scientific article published on 01 October 2016

Alpers syndrome with mutations in POLG: clinical and investigative features.

scientific article

Outfoxed by RBFOX1-a caution about ascertainment bias

scientific article published on 24 March 2014

Functional disomy of proximal Xp causes a distinct phenotype comprising early hypotonia, hypertelorism, small hands and feet, ear abnormalities, myopia and cognitive impairment.

scientific article published in August 2009

A familial 7q36.3 duplication associated with agenesis of the corpus callosum.

scientific article published on 5 May 2015

Prenatal Diagnosis of Fragile X Syndrome in a Twin Pregnancy Complicated by a Complete Retraction

scientific article published on 07 June 2018

The changing face of clinical genetics service delivery in the era of genomics: a framework for monitoring service delivery and data from a comprehensive metropolitan general genetics service

scientific article published on 11 July 2019

DNA Methylation at Birth Predicts Intellectual Functioning and Autism Features in Children with Fragile X Syndrome

scientific article published on 19 October 2020

The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome

scientific article published on 17 August 2022

Severe connective tissue laxity including aortic dilatation in Sotos syndrome

scientific article published on 27 November 2015

Wilms tumor in patients with osteopathia striata with cranial sclerosis

scientific article published on 02 September 2020

List of works by Matthew Hunter

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

FOXP1mutations cause intellectual disability and a recognizable phenotype

Phenotypic insights into ADCY5-associated disease.

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33

Maternal attitudes to newborn screening for fragile X syndrome

Partially methylated alleles, microdeletion, and tissue mosaicism in a fragile X male with tremor and ataxia at 30 years of age: A case report

Alpers syndrome with mutations in POLG: clinical and investigative features.

Outfoxed by RBFOX1-a caution about ascertainment bias

Functional disomy of proximal Xp causes a distinct phenotype comprising early hypotonia, hypertelorism, small hands and feet, ear abnormalities, myopia and cognitive impairment.

A familial 7q36.3 duplication associated with agenesis of the corpus callosum.

Prenatal Diagnosis of Fragile X Syndrome in a Twin Pregnancy Complicated by a Complete Retraction

The changing face of clinical genetics service delivery in the era of genomics: a framework for monitoring service delivery and data from a comprehensive metropolitan general genetics service

DNA Methylation at Birth Predicts Intellectual Functioning and Autism Features in Children with Fragile X Syndrome

The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome

Severe connective tissue laxity including aortic dilatation in Sotos syndrome

Wilms tumor in patients with osteopathia striata with cranial sclerosis