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Scopus Author ID: 56974503600

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United Kingdom, Ireland

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Employment (3)

Royal College of Surgeons in Ireland: Dublin, IE

2024-04-02 to present | Senior Clinical Research Fellow (FutureNeuro)
Employment
Source: Self-asserted source
David Lewis-Smith

Newcastle University: Newcastle upon Tyne, GB

2022-11-01 to present | Honorary Clinical Lecturer (Translational and Clinical Research Institute)
Employment
Source: Self-asserted source
David Lewis-Smith

Children's Hospital of Philadelphia: Philadelphia, Pennsylvania, US

2019-10-01 to present | Non-Traditional Person/Clinical Observer (Department of Neurology, and Department of Biomedical and Health Informatics (DBHi))
Employment
Source: Self-asserted source
David Lewis-Smith

Works (28)

Super-rapid titration of vagus nerve stimulation in a patient with DEPDC5-related drug-resistant epilepsy

Seizure: European Journal of Epilepsy
2025-04 | Journal article
DOI: 10.1016/j.seizure.2025.04.007
Contributors: Javier Peña-Ceballos; Breege Staunton-Grufferty; Nicola Dempsey; Ming-Sheng Lim; Patrick B. Moloney; Ronan D. Kilbride; Hany El Naggar; Donncha O'Brien; Norman Delanty; David LewisSmith
Source: check_circle
Crossref

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

Nature Communications
2023-07-20 | Journal article
DOI: 10.1038/s41467-023-39539-6
Contributors: Ludovica Montanucci; David Lewis-Smith; Ryan L. Collins; Lisa-Marie Niestroj; Shridhar Parthasarathy; Julie Xian; Shiva Ganesan; Marie Macnee; Tobias Brünger; Rhys H. Thomas et al.
Source: check_circle
Crossref

Enriching representation learning using 53 million patient notes through human phenotype ontology embedding

Artificial Intelligence in Medicine
2023-05 | Journal article
DOI: 10.1016/j.artmed.2023.102523
Part of ISSN: 0933-3657
Contributors: Maryam Daniali; Peter D. Galer; David Lewis-Smith; Shridhar Parthasarathy; Edward Kim; Dario D. Salvucci; Jeffrey M. Miller; Scott Haag; Ingo Helbig
Source: Self-asserted source
David Lewis-Smith

Altered synaptic connectivity in an in vitro human model of STXBP1 encephalopathy

Brain
2023-03-01 | Journal article
DOI: 10.1093/brain/awac396
Contributors: Faye McLeod; Anna Dimtsi; Amy C Marshall; David Lewis-Smith; Rhys Thomas; Gavin J Clowry; Andrew J Trevelyan
Source: check_circle
Crossref

A review of the clinical spectrum of BRAT1 disorders and case of developmental and epileptic encephalopathy surviving into adulthood

Epilepsy & Behavior Reports
2022 | Journal article
DOI: 10.1016/j.ebr.2022.100549
Part of ISSN: 2589-9864
Contributors: Ross Fowkes; Menatalla Elwan; Ela Akay; Clinton J Mitchell; Rhys H Thomas; David Lewis-Smith
Source: Self-asserted source
David Lewis-Smith

Late-onset cluster seizures and intellectual disability associated with a novel truncation variant in SMC1A

Epilepsy & Behavior Reports
2022 | Journal article
DOI: 10.1016/j.ebr.2022.100556
Contributors: Menatalla Elwan; Ross Fowkes; David Lewis-Smith; Amy Winder; Mark R. Baker; Rhys H. Thomas
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Crossref

The different clinical facets of SYN1-related neurodevelopmental disorders

Frontiers in Cell and Developmental Biology
2022-12-08 | Journal article
DOI: 10.3389/fcell.2022.1019715
Part of ISSN: 2296-634X
Contributors: Ilaria Parenti; Elsa Leitão; Alma Kuechler; Laurent Villard; Cyril Goizet; Cécile Courdier; Allan Bayat; Alessandra Rossi; Sophie Julia; Ange-Line Bruel et al.
Source: Self-asserted source
David Lewis-Smith

Computational analysis of neurodevelopmental phenotypes: Harmonization empowers clinical discovery

Human Mutation
2022-11 | Journal article
DOI: 10.1002/humu.24389
Contributors: David Lewis‐Smith; Shridhar Parthasarathy; Julie Xian; Michael C. Kaufman; Shiva Ganesan; Peter D. Galer; Rhys H. Thomas; Ingo Helbig
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Crossref

Autoimmune musicogenic bilateral temporal lobe epilepsy

Epileptic Disorders
2022-10-01 | Journal article
DOI: 10.1684/epd.2022.1449
Part of ISSN: 1294-9361
Source: Self-asserted source
David Lewis-Smith
grade
Preferred source (of 2)‎

Assessing the landscape of <i>STXBP1</i>-related disorders in 534 individuals

Brain
2022-06-03 | Journal article | Author
DOI: 10.1093/brain/awab327
Part of ISSN: 0006-8950
Part of ISSN: 1460-2156
Contributors: Julie Xian; Shridhar Parthasarathy; Sarah McKeown Ruggiero; Ganna Balagura; Eryn Fitch; Katherine Helbig; Jing Gan; Shiva Ganesan; Michael Kaufman; Colin A Ellis et al.
Source: Self-asserted source
David Lewis-Smith

Genomic analysis of “microphenotypes” in epilepsy

American Journal of Medical Genetics Part A
2022-01 | Journal article
DOI: 10.1002/ajmg.a.62505
Part of ISSN: 1552-4825
Part of ISSN: 1552-4833
Contributors: Kate Stanley; Joseph Hostyk; Linh Tran; Marta Amengual‐Gual; Patricia Dugan; Justice Clark; Hyunmi Choi; Dmitry Tchapyjnikov; Piero Perucca; Cecilia Fernandes et al.
Source: Self-asserted source
David Lewis-Smith

Climate change and epilepsy: Insights from clinical and basic science studies

Epilepsy and Behavior
2021 | Journal article
DOI: 10.1016/j.yebeh.2021.107791
EID:

2-s2.0-85100820946

Part of ISSN: 15255069 15255050
Contributors: Gulcebi, M.I.; Bartolini, E.; Lee, O.; Lisgaras, C.P.; Onat, F.; Mifsud, J.; Striano, P.; Vezzani, A.; Hildebrand, M.S.; Jimenez-Jimenez, D. et al.
Source: Self-asserted source
David Lewis-Smith via Scopus - Elsevier
grade
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Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders

Genetics in Medicine
2021 | Journal article
DOI: 10.1038/s41436-021-01120-1
EID:

2-s2.0-85103029743

Part of ISSN: 15300366 10983600
Contributors: Crawford, K.; Xian, J.; Helbig, K.L.; Galer, P.D.; Parthasarathy, S.; Lewis-Smith, D.; Kaufman, M.C.; Fitch, E.; Ganesan, S.; O’Brien, M. et al.
Source: Self-asserted source
David Lewis-Smith via Scopus - Elsevier
grade
Preferred source (of 4)‎

The human phenotype ontology in 2021

Nucleic Acids Research
2021 | Journal article
DOI: 10.1093/nar/gkaa1043
EID:

2-s2.0-85099428360

Part of ISSN: 13624962 03051048
Contributors: Köhler, S.; Gargano, M.; Matentzoglu, N.; Carmody, L.C.; Lewis-Smith, D.; Vasilevsky, N.A.; Danis, D.; Balagura, G.; Baynam, G.; Brower, A.M. et al.
Source: Self-asserted source
David Lewis-Smith via Scopus - Elsevier
grade
Preferred source (of 3)‎

Phenotypic homogeneity in childhood epilepsies evolves in gene-specific patterns across 3251 patient-years of clinical data

European Journal of Human Genetics
2021-11-24 | Journal article
DOI: 10.1038/s41431-021-00908-8
Contributors: David Lewis-Smith; Shiva Ganesan; Peter D. Galer; Katherine L. Helbig; Sarah E. McKeown; Margaret O’Brien; Pouya Khankhanian; Michael C. Kaufman; Alexander K. Gonzalez; Alex S. Felmeister et al.
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Crossref
grade
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Altered synaptic connectivity in an in vitro human model of STXBP1 encephalopathy

2021-09-24 | Other
DOI: 10.1101/2021.09.22.461333
Contributors: Faye McLeod; Anna Dimtsi; David Lewis-Smith; Rhys Thomas; Gavin J Clowry; Andrew J Trevelyan
Source: check_circle
Crossref

Modeling seizures in the Human Phenotype Ontology according to contemporary ILAE concepts makes big phenotypic data tractable

Epilepsia
2021-06 | Journal article
DOI: 10.1111/epi.16908
Contributors: David Lewis‐Smith; Peter D. Galer; Ganna Balagura; Hugh Kearney; Shiva Ganesan; Mahgenn Cosico; Margaret O'Brien; Priya Vaidiswaran; Roland Krause; Colin A. Ellis et al.
Source: check_circle
Crossref
grade
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Alien limb in the corticobasal syndrome: phenomenological characteristics and relationship to apraxia

Journal of Neurology
2020 | Journal article
DOI: 10.1007/s00415-019-09672-8
EID:

2-s2.0-85077676785

Part of ISSN: 14321459 03405354
Contributors: Lewis-Smith, D.J.; Wolpe, N.; Ghosh, B.C.P.; Rowe, J.B.
Source: Self-asserted source
David Lewis-Smith via Scopus - Elsevier
grade
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Molecular genetic management of epilepsy

Clinical Molecular Medicine
2020 | Book chapter
DOI: 10.1016/b978-0-12-809356-6.00016-2
Part of ISBN: 9780128093566
Source: Self-asserted source
David Lewis-Smith

The prevalence of genetically diagnosable epilepsies in young adulthood: How many should we be looking for?

Epilepsia
2020-09 | Journal article
DOI: 10.1111/epi.16640
Contributors: David Lewis‐Smith; Rhys H. Thomas
Source: check_circle
Crossref
grade
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Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.

American journal of human genetics
2020-08-20 | Journal article
DOI: 10.1016/j.ajhg.2020.08.003
PMID: 32853554
Source: Self-asserted source
David Lewis-Smith
grade
Preferred source (of 3)‎

Early-onset genetic epilepsies reaching adult clinics

Brain
2020-03-01 | Journal article
DOI: 10.1093/brain/awaa029
Contributors: David Lewis-Smith; Colin A Ellis; Ingo Helbig; Rhys H Thomas
Source: check_circle
Crossref
grade
Preferred source (of 3)‎

Molecular genetic management of epilepsy

Clinical Molecular Medicine: Principles and Practice
2019 | Book chapter
Part of DOI: 10.1016/B978-0-12-809356-6.00016-2
EID:

2-s2.0-85094604657
Contributors: Lewis-Smith, D.; Craig, D.P.; Thomas, N.J.P.; Hamandi, K.; Thomas, R.H.
Source: Self-asserted source
David Lewis-Smith via Scopus - Elsevier
grade
Preferred source (of 2)‎

Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood

Neurology: Genetics
2016 | Journal article
DOI: 10.1212/NXG.0000000000000059
EID:

2-s2.0-84997183942

Part of ISSN: 23767839
Contributors: Lewis-Smith, D.; Kamer, K.J.; Griffin, H.; Childs, A.-M.; Pysden, K.; Titov, D.; Duff, J.; Pyle, A.; Taylor, R.W.; Yu-Wai-Man, P. et al.
Source: Self-asserted source
David Lewis-Smith via Scopus - Elsevier
grade
Preferred source (of 3)‎

Novel HSPB1 mutation causes both motor neuronopathy and distal myopathy

Neurology: Genetics
2016 | Journal article
DOI: 10.1212/NXG.0000000000000110
EID:

2-s2.0-85022212526

Part of ISSN: 23767839
Contributors: Lewis-Smith, D.J.; Duff, J.; Pyle, A.; Griffin, H.; Polvikoski, T.; Birchall, D.; Horvath, R.; Chinnery, P.F.
Source: Self-asserted source
David Lewis-Smith via Scopus - Elsevier
grade
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Phenotypic convergence of menkes and wilson disease

Neurology: Genetics
2016 | Journal article
DOI: 10.1212/NXG.0000000000000119
EID:

2-s2.0-85027478592

Part of ISSN: 23767839
Contributors: Bansagi, B.; Lewis-Smith, D.; Pal, E.; Duff, J.; Griffin, H.; Pyle, A.; Müller, J.S.; Rudas, G.; Aranyi, Z.; Lochmüller, H. et al.
Source: Self-asserted source
David Lewis-Smith via Scopus - Elsevier
grade
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SCP2 mutations and neurodegeneration with brain iron accumulation

Neurology
2015 | Journal article
DOI: 10.1212/WNL.0000000000002157
EID:

2-s2.0-84947967768

Part of ISSN: 1526632X 00283878
Contributors: Horvath, R.; Lewis-Smith, D.; Douroudis, K.; Duff, J.; Keogh, M.; Pyle, A.; Fletcher, N.; Chinnery, P.F.
Source: Self-asserted source
David Lewis-Smith via Scopus - Elsevier
grade
Preferred source (of 3)‎

Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy
Source: Self-asserted source
David Lewis-Smith
grade
Preferred source (of 2)‎
How many people are using ORCID?