Publications by authors named "Tabib Dabir"

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A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and Haploinsufficiency.
Alistair T Pagnamenta, Jing Yu, Tracey A Willis, Mona Hashim, Eleanor G Seaby, Tabib Dabir

Hum Mutat· April 2025

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Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum.
Véronique Pingault, Cécilia Neiva-Vaz, Judite de Oliveira, Núria Martínez-Gil, Amaia Lasa-Aranzasti, Tabib Dabir

Eur J Hum Genet· January 2025

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Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy.
Pleuntje J van der Sluijs, Sébastien Moutton, Alexander J M Dingemans, Denisa Weis, Michael A Levy, Tabib Dabir

Genet Med· January 2025

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Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.
Dmitrijs Rots, Sanaa Choufani, Victor Faundes, Alexander J M Dingemans, Shelagh Joss, Tabib Dabir

Am J Hum Genet· August 2024

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Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Jussi Pekka Tolonen, Ricardo Parolin Schnekenberg, Simon McGowan, David Sims, Meriel McEntagart, Tabib Dabir

Mov Disord· January 2024

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UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: , , and .
Helen Hanson, Anjana Kulkarni, Lucy Loong, Grace Kavanaugh, Bethany Torr, Tabib Dabir

J Med Genet· May 2023

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Novel Variants of in Patients with Intellectual Disability.
Martin Grosse, Alma Kuechler, Tabib Dabir, Stephanie Spranger, Stefanie Beck-Wödl

Int J Mol Sci· February 2023

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Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service.
Eamonn R Maher, Julian Adlard, Julian Barwell, Angela F Brady, Paul Brennan, Tabib Dabir

Br J Cancer· May 2022

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De novo missense variants in FBXO11 alter its protein expression and subcellular localization.
Anne Gregor, Tanja Meerbrei, Thorsten Gerstner, Annick Toutain, Sally Ann Lynch, Tabib Dabir

Hum Mol Genet· February 2022

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Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.
Quentin Thomas, Thierry Gautier, Dana Marafi, Thomas Besnard, Marjolaine Willems, Tabib Dabir

Genet Med· October 2021

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DOORS syndrome and a recurrent truncating ATP6V1B2 variant.
Eliane Beauregard-Lacroix, Guillermo Pacheco-Cuellar, Norbert F Ajeawung, Jessica Tardif, Klaus Dieterich, Tabib Dabir

Genet Med· January 2021

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Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant.
Eliane Beauregard-Lacroix, Guillermo Pacheco-Cuellar, Norbert F Ajeawung, Jessica Tardif, Klaus Dieterich, Tabib Dabir

Genet Med· January 2021

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Risk factors for congenital heart disease: The Baby Hearts Study, a population-based case-control study.
Helen Dolk, Nichola McCullough, Sinead Callaghan, Frank Casey, Brian Craig, Tabib Dabir

PLoS One· April 2020

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Phenotypic delineation of a 12q21 deletion syndrome.
Caoimhe S McKenna, Nivedita Saxena, Tabib A Dabir, June Jones, Geoff Smith

Clin Dysmorphol· October 2019

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polyadenylation signal variants cause syndromic microphthalmia.
Jennifer J Johnston, Kathleen A Williamson, Christopher M Chou, Julie C Sapp, Morad Ansari, Tabib Dabir

J Med Genet· July 2019

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Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging.
Aaron R Jeffries, Reza Maroofian, Claire G Salter, Barry A Chioza, Harold E Cross, Tabib Dabir

Genome Res· July 2019

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Identification and functional analysis of a novel oculocerebrorenal syndrome of Lowe () gene variant in two pedigrees with varying phenotypes including isolated congenital cataract.
Ahmed K Shalaby, Peter Emery-Billcliff, Diana Baralle, Tabib Dabir, Shahiba Begum

Mol Vis· May 2019

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Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
Scott Bell, Justine Rousseau, Huashan Peng, Zahia Aouabed, Pierre Priam, Tabib Dabir

Am J Hum Genet· May 2019

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Pathogenicity and selective constraint on variation near splice sites.
Jenny Lord, Giuseppe Gallone, Patrick J Short, Jeremy F McRae, Holly Ironfield, Tabib Dabir

Genome Res· February 2019

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The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with constitutive variants.
Katrina Tatton-Brown, Anna Zachariou, Chey Loveday, Anthony Renwick, Shazia Mahamdallie, Tabib Dabir

Wellcome Open Res· April 2018

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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Sébastien Küry, Geeske M van Woerden, Thomas Besnard, Martina Proietti Onori, Xénia Latypova, Tabib Dabir

Am J Hum Genet· November 2017

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Protein structure and phenotypic analysis of pathogenic and population missense variants in .
Mohnish Suri, Jochem M G Evers, Roman A Laskowski, Sinead O'Brien, Kate Baker, Tabib Dabir

Mol Genet Genomic Med· September 2017

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Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
Lijia Huang, Megan R Vanstone, Taila Hartley, Matthew Osmond, Nick Barrowman, Tabib A Dabir

Hum Mutat· February 2016

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Further delineation of the KAT6B molecular and phenotypic spectrum.
Tamsin Gannon, Rahat Perveen, Hélene Schlecht, Simon Ramsden, Beverley Anderson, Tabib Dabir

Eur J Hum Genet· September 2015

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Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance.
John C K Barber, Jill A Rosenfeld, John M Graham, Nancy Kramer, Katherine L Lachlan, Tabib A Dabir

Am J Med Genet A· September 2015

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