List of works - Shane McKee

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

scientific article published on 21 April 2016

A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies

scientific article published on 14 March 2019

A clinical study of Aicardi syndrome in Northern Ireland: the spectrum of ophthalmic findings.

scientific article published on 22 April 2016

A splice-site variant in ANKRD11 associated with classical KBG syndrome.

scientific article

B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.

scientific article

Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy

scientific article published on 17 August 2016

Book Case: Six books.

scientific article

Clinical and molecular consequences of disease-associated de novo mutations in SATB2.

scientific article

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

scientific article published on 01 September 2019

Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

scientific article published in May 2017

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome

scientific article published on 28 February 2019

Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.

scientific article published on 3 April 2019

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

scientific article published on 19 March 2020

Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidence

scientific article

Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency

scientific article

Fantastic Data and Where to Find It.

scientific article published on January 2017

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

scientific article published on 10 October 2019

Further delineation of Malan syndrome

scientific article published on 25 June 2018

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

scientific article published in 2022

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

scientific article

Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11.

scientific article published on January 2017

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

scientific article

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

scientific article

Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum

scientific article

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

scientific article

Opposite effects on facial morphology due to gene dosage sensitivity

scientific article

Pierpont syndrome: a collaborative study.

scientific article published on 10 August 2011

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation

scholarly article

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction

scientific article published on 08 November 2019

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

article

The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients

scientific article published on 13 November 2019

The clinical presentation caused by truncating CHD8 variants

scientific article published on 14 May 2019

Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia

scientific article

Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome

scientific article

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

scientific article

List of works by Shane McKee

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies

A clinical study of Aicardi syndrome in Northern Ireland: the spectrum of ophthalmic findings.

A splice-site variant in ANKRD11 associated with classical KBG syndrome.

B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.

Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy

Book Case: Six books.

Clinical and molecular consequences of disease-associated de novo mutations in SATB2.

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome

Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidence

Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency

Fantastic Data and Where to Find It.

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

Further delineation of Malan syndrome

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11.

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Opposite effects on facial morphology due to gene dosage sensitivity

Pierpont syndrome: a collaborative study.

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients

The clinical presentation caused by truncating CHD8 variants

Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia

Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment