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Author Details

Tabib Dabir
Belfast City Hospital
2006
23
12
PMIDPaper TitleJournal TitlePublished Year
37964426Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.Mov Disord2024
36834931Novel Variants of <i>SOX4</i> in Patients with Intellectual Disability.Int J Mol Sci2023
34505148De novo missense variants in FBXO11 alter its protein expression and subcellular localization.Hum Mol Genet2022
35184155Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service.Br J Cancer2022
32873933DOORS syndrome and a recurrent truncating ATP6V1B2 variant.Genet Med2021
34113008Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.Genet Med2021
32934366Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant.Genet Med2021
32092068Risk factors for congenital heart disease: The Baby Hearts Study, a population-based case-control study.PLoS One2020
31031012Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.Am J Hum Genet2019
30842225<i>NAA10</i> polyadenylation signal variants cause syndromic microphthalmia.J Med Genet2019
30985307Phenotypic delineation of a 12q21 deletion syndrome.Clin Dysmorphol2019
30713423Identification and functional analysis of a novel oculocerebrorenal syndrome of Lowe (<i>OCRL</i>) gene variant in two pedigrees with varying phenotypes including isolated congenital cataract.Mol Vis2018
29900417The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with <i>de novo</i> constitutive <i>DNMT3A</i> variants.Wellcome Open Res2018
28944233Protein structure and phenotypic analysis of pathogenic and population missense variants in <i>STXBP1</i>.Mol Genet Genomic Med2017
29100089De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.Am J Hum Genet2017
26507355Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.Hum Mutat2016
25424711Further delineation of the KAT6B molecular and phenotypic spectrum.Eur J Hum Genet2015
26097203Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance.Am J Med Genet A2015
24614070Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.Nat Genet2014
18196933Down syndrome, achondroplasia and tetralogy of Fallot.Neonatology2008
17551338Cranio-osteoarthropathy in sibs.Clin Dysmorphol2007
16317303Trisomy 10p with clinical features of facio-auriculo-vertebral spectrum: a case report.Clin Dysmorphol2006
16736292The RET mutation E768D confers a late-onset familial medullary thyroid carcinoma -- only phenotype with incomplete penetrance: implications for screening and management of carrier status.Fam Cancer2006
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Collaborators

Patrick J Morrison
Belfast City Hospital
Co-authored papers 3
Isabel K Temple
University of Southampton
Co-authored papers 3
Ghayda M Mirzaa
Seattle Children's Hospital.
Co-authored papers 2
Angelo Selicorni
Co-authored papers 2
Henry Houlden
Institute of Neurology, University College London (UCL)
Co-authored papers 2
Pankaj B Agrawal
Broad Institute of MIT and Harvard
Co-authored papers 2
Jill Clayton-Smith
Institute of Human Development, University of Manchester
Co-authored papers 2
Sanjay M Sisodiya
UCL Institute of Neurology
Co-authored papers 2
Siddharth Banka
University of Manchester
Co-authored papers 2
Heather M Chapman
University of California Davis
Co-authored papers 1
Shurjo K Sen
Louisiana State University
Co-authored papers 1
Stephan J Sanders
Co-authored papers 1
Yaping Yang
Baylor College of Medicine
Co-authored papers 1
Sally Ann Lynch
University College Dublin
Co-authored papers 1
Elaine H Zackai
Children's Hospital of Philadelphia
Co-authored papers 1
Petra St??be
Institute of Medical Genetics and Applied Genomics, University of Tuebingen
Co-authored papers 1
Sarju G Mehta
Cambridge University Hospitals NHS Foundation Trust
Co-authored papers 1
Richard Holt
Oxford Brookes University
Co-authored papers 1
Romano Tenconi
Co-authored papers 1
Jeffrey N Dudley
National Institutes of Health, National Human Genome Research Institute
Co-authored papers 1
Jennifer E Posey
Baylor College of Medicine
Co-authored papers 1
Kathleen A Williamson
Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit
Co-authored papers 1
Kym M Boycott
Children's Hospital of Eastern Ontario
Co-authored papers 1
Deborah Ruddy
Guys and St Thomas' Hospital
Co-authored papers 1
Caroline F Wright
University of Exeter, Royal Devon and Exeter Hospital
Co-authored papers 1
Leslie G Biesecker
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 1
Jennifer J Johnston
Center for Precision Health Research, National Human Genome Research Institute
Co-authored papers 1
Nicola K Ragge
Oxford Brookes University
Co-authored papers 1
Shehla Mohammed
Guy's and St Thomas' NHS Foundation Trust
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Fiona Stewart
Belfast City Hospital
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