Publications by Dr Tara Montgomery - ePrints

Browsing publications by Dr Tara Montgomery.

Newcastle Authors	Title	Year
Dr Parthiv Haldipur Dr Tara Montgomery	BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations	2024
Dr Tara Montgomery Dr Anita Devlin	DHDDS related epilepsy––Report of familial cases and review of the literature	2021
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 syndrome	2021
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 disorders	2021
Dr Tara Montgomery	Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia	2021
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 spectrum	2019
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 cases	2017
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 disorders	2017
Dr Richard Fisher Dr Tara Montgomery	Clinical and Genetic Aspects of KBG Syndrome	2016
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 disorders	2015
Dr Tara Montgomery	Delineation of the 3p14.1p13 Microdeletion Associated With Syndromic Distal Limb Contractures	2014
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 syndrome	2008
Dr Tara Montgomery	SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders	2005
Dr Richard Prescott Dr Tara Montgomery Dr Andrea Clarke	The mildest presentations of Rett syndrome: genotype-phenotype correlation and clinical recognition	2005
Dr Tara Montgomery	A clinical study of 57 children with fetal anticonvulsant syndromes	2000
Dr Tara Montgomery Dr Jonathan Wyllie	Ectrodactyly and glaucoma associated with a 7q21.2-q31.2 interstitial deletion	2000
Dr Margaret Jackson Dr David Walshaw Dr Kathleen White Dr Tara Montgomery Professor Sir John Burn et al.	Population based, prospective study of the care of women with epilepsy in pregnancy	2000