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Browsing publications by Dr Tara Montgomery

Newcastle AuthorsTitleYearFull text
Dr Parthiv Haldipur
Dr Tara Montgomery
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations2025
Dr Tara Montgomery
Dr Anita Devlin
DHDDS related epilepsy––Report of familial cases and review of the literature2021
Laura Powell
Dr Eric Olinger
Dr Sarah Rice
Miguel Barroso Gil
Ian Wilson
et al.		Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome2021
Dr David Bourn
Professor Sir John Burn
Dr Richard Fisher
Alexander Henderson
Dr Tara Montgomery
et al.		The contribution of X-linked coding variation to severe developmental disorders2021
Dr Tara Montgomery
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia2021
Dr David Bourn
Dr Richard Fisher
Professor Judith Goodship
Dr Tara Montgomery
Linda Sneddon
et al.		Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (Nature Communications, (2018), 9, 1, (4619), 10.1038/s41467-018-06014-6)2019
Dr Tara Montgomery
Dr Miranda Splitt
Dr Arjan De Brouwer
De novo and biallelic DEAF1 variants cause a phenotypic spectrum2019
Dr Anita Devlin
Dr Tara Montgomery
Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases2017
Dr David Bourn
Professor Sir John Burn
Dr Richard Fisher
Professor Judith Goodship
Alexander Henderson
et al.		Prevalence and architecture of de novo mutations in developmental disorders2017
Dr Richard Fisher
Dr Tara Montgomery
Clinical and Genetic Aspects of KBG Syndrome2016
Dr David Bourn
Professor Sir John Burn
Dr Richard Fisher
Professor Judith Goodship
Dr Alistair Henderson
et al.		Large-scale discovery of novel genetic causes of developmental disorders2015
Dr Tara Montgomery
Delineation of the 3p14.1p13 Microdeletion Associated With Syndromic Distal Limb Contractures2014
Professor Andrew Gennery
Dr Andrew McLean-Tooke
Dr Tara Montgomery
Professor Judith Goodship
Professor Alastair Burt
et al.		Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome2008
Dr Tara Montgomery
SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders2005
Dr Richard Prescott
Dr Tara Montgomery
Dr Andrea Clarke
The mildest presentations of Rett syndrome: genotype-phenotype correlation and clinical recognition2005
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