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Lista de obras de Shane McKee

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

artículo científico publicado en 2016

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

artículo científico publicado en 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.

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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.

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2019

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

artículo científico publicado en 2019

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

artículo científico publicado en 2020

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

artículo científico publicado en 2011

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

artículo científico publicado en 2014

Fantastic Data and Where to Find It.

artículo científico publicado en 2017

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

artículo científico publicado en 2019

Further delineation of Malan syndrome

artículo científico publicado en 2018

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

artículo científico publicado en 2022

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

artículo científico publicado en 2012

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.

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2007

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

artículo científico publicado en 2016

Opposite effects on facial morphology due to gene dosage sensitivity

artículo científico publicado en 2014

Pierpont syndrome: a collaborative study.

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2021

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

artículo científico publicado en 2011

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

artículo científico publicado en 2008