All papers authored by David Lewis-Smith
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Nicolas Matentzoglu ,
Ben Coleman ,
Eunice B. Addo-Lartey,
Anna V. Anagnostopoulos ,
Joel Anderton ,
Paul Avillach ,
Anita M. Bagley ,
Eduard Bakštein ,
James P. Balhoff ,
Gareth Baynam,
Susan M. Bello ,
Michael Berk ,
Holli Bertram ,
Somer Bishop
and 161 other authors
The Human Phenotype Ontology in 2024: phenotypes around the world
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Elsa Leitão,
Alma Kuechler,
Laurent Villard,
Cyril Goizet,
Cécile Courdier,
Allan Bayat ,
Alessandra Rossi,
Sophie Julia,
Ange-Line Bruel,
Frédéric Tran Mau-Them,
Sophie Nambot,
Daphné Lehalle,
Marjolaine Willems,
James Lespinasse
and 37 other authors
The different clinical facets of SYN1-related neurodevelopmental disorders
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Anna Dimtsi,
Amy C. Marshall,
David Lewis-Smith ,
Rhys Thomas,
Gavin J. Clowry,
Andrew J. Trevelyan
Altered synaptic connectivity in anin vitrohuman model of STXBP1 encephalopathy
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Stephan R. Jaiser,
Rhys H. Thomas
Autoimmune musicogenic bilateral temporal lobe epilepsy
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Claudia M. Bonardi ,
Anna Basu,
Gaetano Cantalupo ,
Valentina Chiesa,
Jakob Christensen ,
Bernardo Dalla Bernardina,
Colin A. Ellis,
Francesca Furia,
Fiona Gardiner,
Camille Giron,
Renzo Guerrini ,
Karl Martin Klein
and 26 other authors
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood
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Shridhar Parthasarathy,
Julie Xian,
Michael C. Kaufman,
Shiva Ganesan,
Peter D. Galer,
Rhys H. Thomas,
Ingo Helbig
Computational analysis of neurodevelopmental phenotypes: Harmonization empowers clinical discovery
Download from onlinelibrary.wiley.com
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Shridhar Parthasarathy,
Sarah M. Ruggiero ,
Ganna Balagura ,
Eryn Fitch,
Katherine Helbig ,
Jing Gan,
Shiva Ganesan,
Michael C. Kaufman ,
Colin A. Ellis,
David Lewis-Smith ,
Peter Galer,
Kristin Cunningham,
Margaret O’Brien,
Mahgenn Cosico
and 39 other authors
Assessing the landscape of STXBP1-related disorders in 534 individuals
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Michael C. Kaufman,
Eryn Fitch,
Shiva Ganesan,
Margaret O’Brien,
Veronica Codoni,
Colin A. Ellis,
Laura J. Conway,
Deanne Taylor,
Roland Krause
and 1 other authors
Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders
Download from www.nature.com
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Marcello Scala,
Caterina Cerminara ,
Michele Iacomino,
Antonella Riva,
Barbara Carlini,
Letizia Camerota,
Vincenzo Belcastro ,
Paolo Prontera,
Alberto Fernández-Jaén ,
Nerses Bebek ,
Paolo Scudieri,
Simona Baldassari,
Vincenzo Salpietro
and 18 other authors
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy
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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 ,
Roland Krause ,
Colin A. Ellis,
Ingo Helbig
Download from www.nature.com
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Peter D. Galer ,
Ganna Balagura ,
Hugh Kearney ,
Shiva Ganesan ,
Mahgenn Cosico ,
Margaret O'Brien,
Priya Vaidiswaran ,
Roland Krause ,
Colin A. Ellis ,
Rhys H. Thomas ,
Peter N. Robinson ,
Ingo Helbig
Download from onlinelibrary.wiley.com
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Emanuele Bartolini,
Omay Lee,
Christos Panagiotis Lisgaras,
Filiz Onat,
Janet Mifsud,
Pasquale Striano,
Annamaria Vezzani,
Michael S. Hildebrand ,
Diego Jimenez-Jimenez ,
Larry Junck,
David Lewis-Smith ,
Ingrid E. Scheffer,
Roland D. Thijs,
Sameer M. Zuberi
and 35 other authors
Climate change and epilepsy: Insights from clinical and basic science studies
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Nicole A. Vasilevsky,
Daniel Danis,
Ganna Balagura ,
Gareth Baynam,
Amy M. Brower,
Tiffany J. Callahan,
Christopher G. Chute,
Johanna L. Est,
Peter D. Galer,
Shiva Ganesan
and 36 other authors
The Human Phenotype Ontology in 2021
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Sarah E. McKeown,
Manuela Pendziwiat,
Katherine L. Helbig,
Colin A. Ellis,
Annika Rademacher,
Lacey Smith,
Annapurna Poduri,
Simone Seiffert,
Sarah von Spiczak,
Hiltrud Muhle,
Andreas van Baalen,
Rhys H. Thomas
and 3 other authors
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