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Author Details

David Lewis-Smith
Translational and Clinical Research Institute, Newcastle University
2015
24
9
PMIDPaper TitleJournal TitlePublished Year
37953324The Human Phenotype Ontology in 2024: phenotypes around the world.Nucleic Acids Res2024
37474567Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.Nat Commun2023
37963467The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease.Med2023
37503136The Medical Action Ontology: A Tool for Annotating and Analyzing Treatments and Clinical Management of Human Disease.medRxiv2023
37100502Enriching representation learning using 53 million patient notes through human phenotype ontology embedding.Artif Intell Med2023
35190816Assessing the landscape of STXBP1-related disorders in 534 individuals.Brain2022
35460582Computational analysis of neurodevelopmental phenotypes: Harmonization empowers clinical discovery.Hum Mutat2022
35620305A review of the clinical spectrum of <i>BRAT1</i> disorders and case of developmental and epileptic encephalopathy surviving into adulthood.Epilepsy Behav Rep2022
35712061Late-onset cluster seizures and intellectual disability associated with a novel truncation variant in <i>SMC1A</i>.Epilepsy Behav Rep2022
36568968The different clinical facets of <i>SYN1</i>-related neurodevelopmental disorders.Front Cell Dev Biol2022
36117314Autoimmune musicogenic bilateral temporal lobe epilepsyEpileptic Disord2022
33264411The Human Phenotype Ontology in 2021.Nucleic Acids Res2021
33731876Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders.Genet Med2021
34078716Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy.Neurology2021
34031551Phenotypic homogeneity in childhood epilepsies evolves in gene-specific patterns across 3251 patient-years of clinical data.Eur J Hum Genet2021
33949685Modeling seizures in the Human Phenotype Ontology according to contemporary ILAE concepts makes big phenotypic data tractable.Epilepsia2021
32203577Early-onset genetic epilepsies reaching adult clinics.Brain2020
31919566Alien limb in the corticobasal syndrome: phenomenological characteristics and relationship to apraxia.J Neurol2020
32853554Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.Am J Hum Genet2020
32783195The prevalence of genetically diagnosable epilepsies in young adulthood: How many should we be looking for?Epilepsia2020
27123478Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood.Neurol Genet2016
27830184Novel <i>HSPB1</i> mutation causes both motor neuronopathy and distal myopathy.Neurol Genet2016
27878136Phenotypic convergence of Menkes and Wilson disease.Neurol Genet2016
26497993SCP2 mutations and neurodegeneration with brain iron accumulation.Neurology2015
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Collaborators

Ingo Helbig
Children's Hospital of Philadelphia
Co-authored papers 11
Peter D Galer
Children's Hospital of Philadelphia
Co-authored papers 8
Roland Krause
University of Luxembourg
Co-authored papers 5
Rita Horvath
School of Clinical Medicine, University of Cambridge
Co-authored papers 4
Leigh C Carmody
Center for the Science of Therapeutics, Broad Institute of MIT and Harvard
Co-authored papers 4
Christopher J Mungall
International Society for Biocuration, Lawrence Berkeley National Laboratory, University of Edinburgh, University of Edinburgh School of Biological Sciences
Co-authored papers 4
Nicole Vasilevsky
Critical Path Institute
Co-authored papers 4
Patrick F Chinnery
School of Clinical Medicine, University of Cambridge
Co-authored papers 4
Michael Gargano
Co-authored papers 4
Melissa A Haendel
American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison
Co-authored papers 4
Hannah Blau
Co-authored papers 3
Morgan Similuk
National Institute of Allergy and Infectious Diseases, National Institutes of Health
Co-authored papers 3
Ganna Balagura
IRCCS Istituto Giannina Gaslini
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Melissa A Haendel
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Berthold Seitz
Universitatsklinikum des Saarlandes UKS
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Hanns Lochm??ller
Children's Hospital of Eastern Ontario Research Institute
Co-authored papers 3
Teresa N Sparks
University of California san francisco
Co-authored papers 2
Michael J Adam
University of Washington School of Medicine
Co-authored papers 2
Christopher G Chute
Brown University, Brown University Warren Alpert Medical School, Dartmouth-Hitchcock Medical Center, Harvard School of Public Health, Johns Hopkins Medicine, Mayo Clinic Minnesota
Co-authored papers 2
David Lagorce
INSERM
Co-authored papers 2
Manuel Mu??oz-Torres
Biosanitary Research Institute of Granada (ibs.GRANADA)
Co-authored papers 2
Sebastian K??hler
Division of Emergency Medicine University of Calgary Calgary Alberta Canada.
Co-authored papers 2
Nomi L Harris
Lawrence Berkely National Laboratory, Massachusetts Institute of Technology, Princeton University
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David G??mez-Andr??s
Vall d'Hebron University Hospital and VHIR (Euro-NMD
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Rachel Thompson
Children's Hospital of Eastern Ontario Research Institute
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Sabrina Toro
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Monica C Munoz-Torres
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Release 1.2