Lista de obras - Matthew Hunter - Dominio Público Uruguay

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

artículo científico publicado en 2015

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

artículo científico publicado en 2010

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

artículo científico publicado en 2011

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

artículo científico publicado en 2020

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

artículo científico publicado en 2016

FOXP1mutations cause intellectual disability and a recognizable phenotype

scientific article published on 24 September 2013

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

artículo científico publicado en 2009

Maternal attitudes to newborn screening for fragile X syndrome

scientific article published on 09 January 2013

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

artículo científico publicado en 2009

Outfoxed by RBFOX1-a caution about ascertainment bias

artículo científico publicado en 2014

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

artículo científico publicado en 2016

Phenotypic insights into ADCY5-associated disease.

artículo científico publicado en 2016

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

artículo científico publicado en 2018

Severe connective tissue laxity including aortic dilatation in Sotos syndrome

artículo científico publicado en 2015

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.

artículo científico publicado en 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

Wilms tumor in patients with osteopathia striata with cranial sclerosis

artículo científico publicado en 2020

Lista de obras de Matthew Hunter

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

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

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

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

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

FOXP1mutations cause intellectual disability and a recognizable phenotype

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

Maternal attitudes to newborn screening for fragile X syndrome

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

Outfoxed by RBFOX1-a caution about ascertainment bias

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

Phenotypic insights into ADCY5-associated disease.

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

Severe connective tissue laxity including aortic dilatation in Sotos syndrome

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.

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

Wilms tumor in patients with osteopathia striata with cranial sclerosis