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Author Details

David R FitzPatrick
Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit
1984
223
66
PMIDPaper TitleJournal TitlePublished Year
38050128Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.J Med Genet2024
36669873EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders.J Med Genet2023
37808847Heterozygous loss-of-function <i>SMC3</i> variants are associated with variable and incompletely penetrant growth and developmental features.medRxiv2023
37348994Lung Cancer in the Republic of Ireland.J Thorac Oncol2023
37306293Characterization of an eye field-like state during optic vesicle organoid development.Development2023
36549593Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome.Genet Med2023
36441169Importance of adopting standardized MANE transcripts in clinical reporting.Genet Med2023
36639056Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variants.Eur J Med Genet2023
35139179Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology.Brain2022
35507016The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.Genet Med2022
35670729Creation and evaluation of full-text literature-derived, feature-weighted disease models of genetically determined developmental disorders.Database (Oxford)2022
35850704Recommendations for clinical interpretation of variants found in non-coding regions of the genome.Genome Med2022
36413568Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia.PLoS One2022
36561149IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders.HGG Adv2022
36167847Author Correction: Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data.Nat Commun2022
36292683Robust Genetic Analysis of the X-Linked Anophthalmic (<i>Ie</i>) Mouse.Genes (Basel)2022
33149276Evaluating variants classified as pathogenic in ClinVar in the DDD Study.Genet Med2021
33565190TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.Hum Mutat2021
34626536Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders.Am J Hum Genet2021
34417209Mutational bias in spermatogonia impacts the anatomy of regulatory sites in the human genome.Genome Res2021
34388204Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability.PLoS One2021
34035299Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect.Nat Commun2021
31358957Anophthalmia including next-generation sequencing-based approaches.Eur J Hum Genet2020
31896778CUGC for syndromic microphthalmia including next-generation sequencing-based approaches.Eur J Hum Genet2020
32047287Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.Genet Med2020
33150406KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.Brain2020
32891193Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.Am J Hum Genet2020
32765930Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2.J Pediatr Genet2020
32421356Genomically Aided Diagnosis of Severe Developmental Disorders.Annu Rev Genomics Hum Genet2020
32515017SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation.Ann Neurol2020
32193685Delineation of phenotypes and genotypes related to cohesin structural protein RAD21.Hum Genet2020
31168063Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome.Nat Genet2019
30242502The genetic architecture of aniridia and Gillespie syndrome.Hum Genet2019
31604926Contribution of retrotransposition to developmental disorders.Nat Commun2019
31227601Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations.Genome Res2019
31278258Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data.Nat Commun2019
30842225<i>NAA10</i> polyadenylation signal variants cause syndromic microphthalmia.J Med Genet2019
31147538Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP.Nat Commun2019
30856165ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.PLoS Genet2019
29323667Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders.Genet Med2018
29995837Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.Nat Rev Genet2018
30258228Common genetic variants contribute to risk of rare severe neurodevelopmental disorders.Nature2018
30586382Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice.PLoS Genet2018
30409806Quantifying the contribution of recessive coding variation to developmental disorders.Science2018
29610177NALCN Dysfunction as a Cause of Disordered Respiratory Rhythm With Central Apnea.Pediatrics2018
29440723Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome.Nat Genet2018
29544605Cardiac Genetic Predisposition in Sudden Infant Death Syndrome.J Am Coll Cardiol2018
29379197BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome.Nat Genet2018
29605429Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study.Lancet2018
29562236De novo mutations in regulatory elements in neurodevelopmental disorders.Nature2018
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Collaborators

Kathleen A Williamson
Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit
Co-authored papers 28
Helen V Firth
Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals
Co-authored papers 28
Morad Ansari
Western General Hospital
Co-authored papers 22
Matthew E Hurles
Wellcome Sanger Institute
Co-authored papers 21
Caroline F Wright
University of Exeter, Royal Devon and Exeter Hospital
Co-authored papers 21
Jill Clayton-Smith
Institute of Human Development, University of Manchester
Co-authored papers 14
Fiona Stewart
Belfast City Hospital
Co-authored papers 10
Sally Ann Lynch
University College Dublin
Co-authored papers 9
Jeffrey C Barrett
Co-authored papers 9
Adele Schneider
Co-authored papers 8
Sanjay M Sisodiya
UCL Institute of Neurology
Co-authored papers 8
Martin S Taylor
Institute of Genetics and Cancer, University of Edinburgh
Co-authored papers 7
Malcolm Fisher
Cincinnati Children's Hospital Medical Center
Co-authored papers 7
Graeme C M Black
Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital
Co-authored papers 7
Graeme R Grimes
Co-authored papers 7
Isabel K Temple
University of Southampton
Co-authored papers 7
Jane A Hurst
Great Ormond Street Hospital NHS Foundation Trust
Co-authored papers 7
Nicola K Ragge
Oxford Brookes University
Co-authored papers 7
Ian D Krantz
Children's Hospital of Philadelphia
Co-authored papers 7
Alison Meynert
Institute of Genetics and Cancer, University of Edinburgh
Co-authored papers 7
Soo-Mi Park
Cambridge University Hospital, NHS Foundation Trust
Co-authored papers 7
Frances Lucy Raymond
University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust
Co-authored papers 6
Bert B A de Vries
Radboud University Medical Center
Co-authored papers 6
Angelo Selicorni
Co-authored papers 6
Han G Brunner
Maastricht University Medical Centre
Co-authored papers 5
Tanya Bardakjian
Co-authored papers 5
David Valle
Johns Hopkins School of Medicine
Co-authored papers 5
Shehla Mohammed
Guy's and St Thomas' NHS Foundation Trust
Co-authored papers 5
Sarju G Mehta
Cambridge University Hospitals NHS Foundation Trust
Co-authored papers 5
Len A Pennacchio
Lawrence Berkeley National Laboratory
Co-authored papers 4
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