Результати пошуку - David Lewis‐Smith

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  1. 1
    Building a dashboard to inform policy and clinical practice using the Irish epilepsy electronic patient record: Towards a learning health system

    Building a dashboard to inform policy and clinical practice using the Irish epilepsy electronic patient record: Towards a learning health system за авторством Ian A. J. Darragh, Laura Brady, Norman Delanty, Colin P. Doherty, David Lewis‐Smith, Kathleen Bennett

    Опубліковано 2025
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  2. 2
    <i>SCP2</i> mutations and neurodegeneration with brain iron accumulation

    <i>SCP2</i> mutations and neurodegeneration with brain iron accumulation за авторством Rita Horváth, David Lewis‐Smith, Konstantinos Douroudis, Jennifer Duff, Michael J. Keogh, Angela Pyle, Nicholas Fletcher, Patrick F. Chinnery

    Опубліковано 2015
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  3. 3
    Enriching representation learning using 53 million patient notes through human phenotype ontology embedding

    Enriching representation learning using 53 million patient notes through human phenotype ontology embedding за авторством Maryam Daniali, Peter D. Galer, David Lewis‐Smith, Shridhar Parthasarathy, Edward Kim, Dario D. Salvucci, Jeffrey M. Miller, Scott Haag, Ingo Helbig

    Опубліковано 2023
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  4. 4
    Homozygous deletion in <i>MICU1</i> presenting with fatigue and lethargy in childhood

    Homozygous deletion in <i>MICU1</i> presenting with fatigue and lethargy in childhood за авторством David Lewis‐Smith, Kimberli J. Kamer, Helen Griffin, Anne‐Marie Childs, Karen Pysden, Denis V. Titov, Jennifer Duff, Angela Pyle, Robert W. Taylor, Patrick Yu‐Wai‐Man, Venkateswaran Ramesh, Rita Horváth, Vamsi K. Mootha, Patrick F. Chinnery

    Опубліковано 2016
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  5. 5
    Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders

    Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders за авторством Katherine Crawford, Julie Xian, Katherine L. Helbig, Peter D. Galer, Shridhar Parthasarathy, David Lewis‐Smith, Michael C. Kaufman, Eryn Fitch, Shiva Ganesan, Margaret O’Brien, Veronica Codoni, Colin A. Ellis, Laura Conway, Deanne Taylor, Roland Krause, Ingo Helbig

    Опубліковано 2021
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  6. 6
    Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies

    Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies за авторством Peter D. Galer, Shiva Ganesan, David Lewis‐Smith, Sarah 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, Roland Krause, Yvonne G. Weber, Ingo Helbig

    Опубліковано 2020
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  7. 7
    Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood

    Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood за авторством Hannah Stamberger, David Crosiers, Ganna Balagura, Claudia 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, Christian Korff, Hana Krijtová, Melanie Leffler, Holger Lerche, Gaëtan Lesca, David Lewis‐Smith, Carla Marini, Dragan Marjanović, Laure Mazzola, Sarah M. Ruggiero, Fanny Mochel, Francis Ramond, Philipp S. Reif, Aurélie Richard-Mornas, Felix Rosenow, Christian Schropp, Rhys H. Thomas, Aglaia Vignoli, Yvonne G. Weber, Elizabeth E. Palmer, Ingo Helbig, Ingrid E. Scheffer, Pasquale Striano, Rikke S. Møller, Elena Gardella, Sarah Weckhuysen

    Опубліковано 2022
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  8. 8
    Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

    Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals за авторством Ludovica Montanucci, David Lewis‐Smith, Ryan L. Collins, Lisa‐Marie Niestroj, Shridhar Parthasarathy, Julie Xian, Shiva Ganesan, Marie Macnee, Tobias Brünger, Rhys H. Thomas, Michael E. Talkowski, Joshua E. Motelow, Gundula Povysil, Ryan S. Dhindsa, Kate E. Stanley, Andrew S. Allen, David B. Goldstein, Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott, Katherine Tashman, Felecia Cerrato, Caroline Cusick, Tarjinder Singh, Henrike Heyne, Andrea Byrnes, Claire Churchhouse, Nick Watts, Matthew Solomonson, Dennis Lal, Namrata Gupta, Benjamin M. Neale, Samuel F. Berkovic, Holger Lerche, Daniel H. Lowenstein, Gianpiero L. Cavalleri, Patrick Cossette, Chris Cotsapas, Peter De Jonghe, Tracy Dixon‐Salazar, Renzo Guerrini, Hákon Hákonarson, Erin L. Heinzen, Ingo Helbig, Patrick Kwan, Anthony G Marson, Slavé Petrovski, Sitharthan Kamalakaran, Sanjay M. Sisodiya, Randy Stewart, Sarah Weckhuysen, Chantal Depondt, Dennis Dlugos, Ingrid E. Scheffer, Pasquale Striano, Catharine Freyer, Roland Krause, Patrick May, Kevin E. McKenna, Brigid M. Regan, Caitlin A. Bennett, Stephanie L. Leech, Costin Leu, David Lewis‐Smith, Terence J. O’Brien, Marian Todaro, Hannah Stamberger, Chantal Depondti, Danielle M. Andrade, Quratulain Zulfiqar Ali, Tara Sadoway, Heinz Krestel, André Schaller, Savvas Papacostas, Ioanna Kousiappa, George A. Tanteles, Christou Yiolanda, Katalin Štěrbová, Markéta Vlčková, Lucie Sedláčková, Petra Laššuthová, Karl Martin Klein, Felix Rosenow, Philipp S. Reif, Susanne Knake, Bernd A. Neubauer, Fritz Zimprich, Martha Feucht, Eva M. Reinthaler, Wolfram S. Kunz, Gábor Zsurka, Rainer Surges, Tobias H. Baumgartner, Randi von Wrede, Ingo Helbig, Manuela Pendziwiat, Hiltrud Muhle, Annika Rademacher, Andreas van Baalen, Sarah von Spiczak

    Опубліковано 2023
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  9. 9
    The Human Phenotype Ontology in 2021

    The Human Phenotype Ontology in 2021 за авторством Sebastian Köhler, Michael Gargano, Nicolas Matentzoglu, Leigh Carmody, David Lewis‐Smith, Nicole Vasilevsky, Daniel Daniš, Ganna Balagura, Gareth Baynam, Amy Brower, Tiffany J Callahan, Christopher G. Chute, Johanna L Est, Peter D. Galer, Shiva Ganesan, Matthias Griese, Matthias Haimel, Júlia Pázmándi, Marc Hanauer, Nomi L. Harris, M. J. Hartnett, Maximilian Hastreiter, Fabian Hauck, Yongqun He, Tim Jeske, Hugh Kearney, Gerhard Kindle, Christoph Klein, Katrin Knoflach, Roland Krause, David Lagorce, Julie A. McMurry, Jillian A. Miller, Monica Muñoz‐Torres, Rebecca L. Peters, Christina Rapp, Ana Rath, Shahmir A Rind, Avi Z. Rosenberg, Michael M. Segal, Markus G. Seidel, Damian Smedley, Tomer Talmy, Yarlalu Thomas, Samuel Agyei Wiafe, Julie Xian, Zafer Yüksel, Ingo Helbig, Chris Mungall, Melissa Haendel, Peter N. Robinson

    Опубліковано 2020
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  10. 10
    Assessing the landscape of <i>STXBP1</i>-related disorders in 534 individuals

    Assessing the landscape of <i>STXBP1</i>-related disorders in 534 individuals за авторством Julie Xian, Shridhar Parthasarathy, Sarah M. Ruggiero, Ganna Balagura, Eryn Fitch, Katherine L. Helbig, Jing Gan, Shiva Ganesan, Michael C. Kaufman, Colin A. Ellis, David Lewis‐Smith, Peter D. Galer, Kristin Cunningham, Margaret O’Brien, Mahgenn Cosico, Kate Baker, Alejandra Darling, Fernanda Veiga de Góes, Christelle Moufawad El Achkar, Jan H Doering, Francesca Furia, Ángeles García‐Cazorla, Elena Gardella, Lisa Geertjens, Courtney Klein, Anna Kolesnik, Hanna C. A. Lammertse, Jeehun Lee, Alexandra T. Mackie, Mala Misra‐Isrie, Heather E. Olson, Emma Sexton, Beth Rosen Sheidley, Lacey Smith, Luiza Sotero, Hannah Stamberger, Steffen Syrbe, Kim Marie Thalwitzer, Annemiek van Berkel, Mieke M. van Haelst, Christopher J. Yuskaitis, Sarah Weckhuysen, Benjamin L. Prosser, Charlene Son Rigby, Scott Demarest, Samuel R. Pierce, Yuehua Zhang, Rikke S. Møller, Hilgo Bruining, Annapurna Poduri, Federico Zara, Matthijs Verhage, Pasquale Striano, Ingo Helbig

    Опубліковано 2021
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  11. 11
    The Human Phenotype Ontology in 2024: phenotypes around the world

    The Human Phenotype Ontology in 2024: phenotypes around the world за авторством Michael Gargano, Nicolas Matentzoglu, Ben Coleman, Eunice B Addo-Lartey, Anna V. Anagnostopoulos, Joel Anderton, Paul Avillach, Anita Bagley, Eduard Bakštein, James P. Balhoff, Gareth Baynam, Susan M. Bello, Michael Berk, Holli Bertram, Somer Bishop, Hannah Blau, David F. Bodenstein, Pablo Botas, Kaan Boztuğ, J Cady, Tiffany J Callahan, Rhiannon Cameron, Seth Carbon, F Castellanos, J. Harry Caufield, Lauren Chan, Christopher G. Chute, Jaime Cruz‐Rojo, Noémi Dahan‐Oliel, Jon R. Davids, Maud de Dieuleveult, Vinícius de Souza, Bert B.A. de Vries, Esther de Vries, J. Raymond DePaulo, Beáta Dérfalvi, Ferdinand Dhombres, Claudia Diaz‐Byrd, Alexander J.M. Dingemans, Bruno Donadille, Michael H. Duyzend, Reem Elfeky, Shahim Essaid, Carolina Fabrizzi, Giovanna Fico, Helen V. Firth, Yun Freudenberg‐Hua, Janice M. Fullerton, Davera Gabriel, Kimberly Gilmour, Jessica L. Giordano, Fernando S. Goes, Rachel Gore Moses, Ian Green, Matthias Griese, Tudor Groza, Weihong Gu, Julia Guthrie, Benjamin M. Gyori, Ada Hamosh, Marc Hanauer, Kateřina Hanušová, Yongqun He, Harshad Hegde, Ingo Helbig, Kateřina Holasová, Charles Tapley Hoyt, Shangzhi Huang, Eric Hurwitz, Julius O.B. Jacobsen, Xiaofeng Jiang, Lisa Joseph, Kamyar Keramatian, Bryan King, Katrin Knoflach, David A. Koolen, Megan L Kraus, Carlo Kroll, Maaike Kusters, Markus S. Ladewig, David Lagorce, Meng‐Chuan Lai, Pablo Lapunzina, Bryan Laraway, David Lewis‐Smith, Xiarong Li, Caterina Lucano, Marzieh Majd, Mary L. Marazita, Víctor Martínez‐Glez, Toby H McHenry, Melvin G. McInnis, Julie A. McMurry, Michaela Mihulová, Caitlin E. Millett, Philip B. Mitchell, Veronika Moslerová, Kenji Narutomi, Shahrzad Nematollahi, Julián Nevado

    Опубліковано 2023
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