T. Dabir

Most-cited papers

1. Large-scale discovery of novel genetic causes of developmental disorders

   T. Fitzgerald, SS Gerety, WD Jones, M. van Kogelenberg +261 more

   2014Nature1,070 citations Open access

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2. Mutations in the DNA methyltransferase gene, DNMT3A, cause an overgrowth syndrome with intellectual disability

   K. Tatton-Brown, S. Seal, Elise Ruark, J. Harmer +19 more

   2014Nature Genetics329 citations Open access

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3. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

   S. Küry, Geeske M. van Woerden, T. Besnard, M. Onori +102 more

   2017American Journal of Human Genetics181 citations Open access

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4. The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

   K. Tatton-Brown, Anna Zachariou, C. Loveday, A. Renwick +45 more

   2018Wellcome Open Research99 citations Open access

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5. Pathogenicity and selective constraint on variation near splice sites

   J. Lord, G. Gallone, Patrick J. Short, J. McRae +24 more

   2018bioRxiv85 citations Open access

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6. Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

   Scott C. Bell, J. Rousseau, H. Peng, Zahia Aouabed +65 more

   2019American Journal of Human Genetics83 citations Open access

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7. Further Delineation of the KAT6B Molecular and Phenotypic Spectrum

   Tamsin Gannon, R. Perveen, H. Schlecht, S. Ramsden +55 more

   2014European Journal of Human Genetics64 citations Open access

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8. Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

   Li-Jia Huang, M. Vanstone, T. Hartley, M. Osmond +49 more

   2015Human Mutation62 citations Open access

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9. Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome

   F. Lalloo, A. Kulkarni, C. Chau, M. Nielsen +42 more

   2023European Journal of Human Genetics52 citations Open access

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10. Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

    A. Jeffries, R. Maroofian, C. Salter, B. Chioza +22 more

    2018bioRxiv52 citations Open access

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11. Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group

    J. Bakhuizen, H. Hanson, K. van der Tuin, F. Lalloo +37 more

    2021Familial Cancer50 citations Open access

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12. Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

    J. McRae, S. Clayton, Tomas W. Fitzgerald, J. Kaplanis +297 more

    2016bioRxiv50 citations Open access

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13. Risk factors for congenital heart disease: The Baby Hearts Study, a population-based case-control study

    H. Dolk, Nichola McCullough, S. Callaghan, F. Casey +7 more

    2020PLoS ONE49 citations Open access

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14. Oxford Desk Reference: Clinical Genetics

    T. Dabir

    2006Ulster medical journal49 citations

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15. UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2

    H. Hanson, A. Kulkarni, L. Loong, G. Kavanaugh +20 more

    2022Journal of Medical Genetics44 citations Open access

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16. Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1

    M. Suri, Jochem M. G. Evers, R. Laskowski, Sinéad O'Brien +13 more

    2017Molecular Genetics & Genomic Medicine37 citations Open access

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17. NAA10 polyadenylation signal variants cause syndromic microphthalmia

    J. Johnston, K. Williamson, Christopher M. Chou, Julie C. Sapp +15 more

    2019Journal of Medical Genetics36 citations Open access

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18. Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

    D. Rots, S. Choufani, V. Faundes, A. Dingemans +100 more

    2024American Journal of Human Genetics27 citations Open access

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19. DOORS syndrome and a recurrent truncating ATP6V1B2 variant

    Éliane Beauregard-Lacroix, G. Pacheco-Cuellar, N. Ajeawung, J. Tardif +18 more

    2020Genetics in Medicine26 citations Open access

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20. Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance

    J. C. K. Barber, J. Rosenfeld, J. M. Graham, Nancy Kramer +16 more

    2015American Journal of Medical Genetics. Part A25 citations

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21. Trisomy 10p with clinical features of facio-auriculo-vertebral spectrum: a case report.

    T. Dabir, P. Morrison

    2006Clinical Dysmorphology24 citations

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22. The RET Mutation E768D Confers a Late-onset Familial Medullary Thyroid Carcinoma – Only Phenotype with Incomplete Penetrance: Implications for Screening and Management of Carrier Status

    T. Dabir, S. Hunter, C. Russell, D. McCall +1 more

    2006Familial Cancer18 citations

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23. Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design

    Jussi-Pekka Tolonen, Ricardo Parolin Schnekenberg, Simon McGowan, David Sims +44 more

    2023Movement Disorders17 citations Open access

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24. Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

    Q. Thomas, Thierry Gautier, D. Marafi, T. Besnard +38 more

    2021Genetics in Medicine13 citations Open access

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25. Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service

    E. Maher, J. Adlard, J. Barwell, A. Brady +21 more

    2022British Journal of Cancer12 citations Open access

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26. De novo missense variants in FBXO11 alter its protein expression and subcellular localization

    A. Gregor, Tanja Meerbrei, T. Gerstner, A. Toutain +39 more

    2021Human Molecular Genetics11 citations Open access

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27. Cranio-osteoarthropathy in sibs.

    T. Dabir, A. Sills, C. Hall, C. Bennett +2 more

    2007Clinical Dysmorphology10 citations

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28. A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and SRRM2 Haploinsufficiency

    A. Pagnamenta, Jing Yu, T. Willis, Mona Hashim +14 more

    2023Human Mutation8 citations Open access

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29. Down Syndrome, Achondroplasia and Tetralogy of Fallot

    T. Dabir, B. McCrossan, L. Sweeney, A. Magee +1 more

    2008Neonatology8 citations

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30. Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum

    V. Pingault, C. Neiva-Vaz, Judite de Oliveira, Núria Martínez-Gil +14 more

    2024European Journal of Human Genetics6 citations Open access

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31. Novel Variants of SOX4 in Patients with Intellectual Disability

    Martin Grosse, A. Kuechler, T. Dabir, S. Spranger +7 more

    2023International Journal of Molecular Sciences6 citations Open access

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32. Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy.

    P. J. van der Sluijs, S. Moutton, A. Dingemans, Denisa Weis +43 more

    2024Genetics in Medicine5 citations Open access

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33. Phenotypic delineation of a 12q21 deletion syndrome.

    C. McKenna, N. Saxena, T. Dabir, June Jones +2 more

    2019Clinical Dysmorphology5 citations

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34. Identification and functional analysis of a novel oculocerebrorenal syndrome of Lowe (OCRL) gene variant in two pedigrees with varying phenotypes including isolated congenital cataract

    A. Shalaby, Peter Emery-Billcliff, Diana Baralle, T. Dabir +5 more

    2018Molecular Vision5 citations

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35. Population-based screening for Lynch syndrome in patients with colorectal cancer: implementing the NICE diagnostic pathway

    Clare Crean, Lauren McConnell, Christine Quinn, Beatriz Cutillas-Moreno +13 more

    2026BMJ Connections Clinical Genetics and Genomics2 citations Open access

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36. Multiple and novel molecular mechanisms in TUBA1A-related tubulinopathy: insights from deep clinical and neuroradiological phenotyping.

    J. Fasham, Rucha Pandit, Adam T. Higgins, Dowon Kim +30 more

    2025medRxiv1 citations Open access

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37. Mutations in ACTL 6 B cause neurodevelopmental deficits and epilepsy and lead to 1 loss of dendrites in human neurons 2 3

    Scott C. Bell, J. Rousseau, H. Peng, Zahia Aouabed +70 more

    20191 citations

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38. Sporadic implementation of UK familial mammographic surveillance guidelines 15 years after original publication

    D. Evans, Maria Edwards, S. Duffy, Julian Munaza Julian Angela Paul Carole Jacqueline Tabib Adlard Ahmed Barwell Brady Brennan Brewer Cook Dab +25 more

    2019British Journal of Cancer1 citations Open access

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39. Corrigendum: Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability

    K. Tatton-Brown, S. Seal, Elise Ruark, J. Harmer +19 more

    2014Nature Genetics1 citations Open access

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40. Neural tube defects in 21st century: is Northern Ireland changing?

    T. Dabir, F. Stewart, N. Hill

    2009Cerebrospinal Fluid Research1 citations Open access

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41. Experiences of patients and public partners in codesign of Lynch Choices™: an evaluation study using the Patient Engagement In Research Scale (PEIRS-22)

    Kelly Kohut, Lesley Turner, C. Dale, Sue Duncombe +106 more

    2026Research Involvement and Engagement0 citations Open access

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42. Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant

    Éliane Beauregard-Lacroix, G. Pacheco-Cuellar, N. Ajeawung, J. Tardif +18 more

    2020Genetics in Medicine0 citations Open access

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43. DOORS syndrome and a recurrent truncating ATP6V1B2 variant

    Éliane Beauregard-Lacroix, G. Pacheco-Cuellar, N. Ajeawung, J. Tardif +18 more

    2020Genetics in Medicine0 citations Open access

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44. Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant

    Éliane Beauregard-Lacroix, G. Pacheco-Cuellar, N. Ajeawung, J. Tardif +18 more

    2020Genetics in Medicine0 citations Open access

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45. 2018-1105 CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

    Y. Crow, D. Mariella, Alessandro, T. Dabir +224 more

    20190 citations

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46. 13th Meeting of the Irish Society of Human Genetics

    F. Stewart, J. E. Wraith, K. Tylee, A. H. Cooper +163 more

    2010Ulster medical journal0 citations

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47. 12th Annual Scientific Meeting of the Irish Society of Human Genetics, Friday 18th September 2009

    Johanna Kelly, N. Coen, Lynn R. Barton, M. O'Dwyer +166 more

    2010Ulster medical journal0 citations

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48. 8th Meeting of the Irish Society of Human Genetics, Monday 19th September 2005

    D. Morris, K. Murphy, N. Kenny, N. Williams +141 more

    2006Ulster medical journal0 citations

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49. The RET mutation E768D confers a late onset FMTC-only phenotype with incomplete penetrance

    D. McCall, T. Dabir, C. Russell, P. Morrison +1 more

    20050 citations

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50. Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

    Q. Thomas, D. Marafi, T. Besnard, M. Willems +39 more

    0 citations

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