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David A. Keays

Human Mutation, American Journal of Human Genetics, Nature Genetics, Brain : a journal of neurology, G3: Genes, Genomes, Genetics, Clinical Genetics, Molecular Syndromology, Frontiers in Cell and Developmental Biology Show more
9
Role
Title
Level Year L/R
๐Ÿœ Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)
24 auth. K. Poirier, David A. Keays, F. Francis, Yoann Saillour, N. Bahi, S. Manouvrier, C. Fallet-Bianco, L. Pasquier, A. Toutain, F. Tuy, ... T. Bienvenu, S. Joriot, S. Odent, D. Ville, I. Desguerre, A. Goldenberg, M. Moutard, J. Fryns, H. Van Esch, R. Harvey, C. Siebold, J. Flint, C. Beldjord, J. Chelly 		7 2007
7
๐Ÿœ
๐Ÿœ Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.
21 auth. Malcolm F. Howard, Y. Murakami, A. Pagnamenta, C. Daumer-Haas, B. Fischer, J. Hecht, David A. Keays, S. Knight, U. Kรถlsch, Ulrike Krรผger, ... S. Leiz, Y. Maeda, D. Mitchell, S. Mundlos, J. Phillips, P. Robinson, U. Kini, Jenny C. Taylor, D. Horn, T. Kinoshita, P. Krawitz 		6 2014
6
๐Ÿœ
๐Ÿœ Mutations in the HECT domain of NEDD4L lead to AKT/mTOR pathway deregulation and cause periventricular nodular heterotopia
39 auth. Loรฏc Broix, Heฬleฬ€ne Jagline, Ekaterina L Ivanova, Stephane Schmucker, N. Drouot, J. Clayton-Smith, A. Pagnamenta, K. Metcalfe, B. Isidor, U. W. Louvier, A. Poduri, Jenny C. Taylor, Peggy Tilly, K. Poirier, Yoann Saillour, ... N. Lebrun, Tristan Stemmelen, G. Rudolf, G. Muraca, Benjamin Saintpierre, Adrienne Elmorjani, Martin Moรฏse, Nathalie Bednarek Weirauch, R. Guerrini, A. Boland, R. Olaso, C. Masson, Ratna Tripathy, David A. Keays, C. Beldjord, L. Nguyen, Juliette D. Godin, U. Kini, Patrick Nischkรฉ, J. Deleuze, N. Bahi-Buisson, I. Sumara, M. Hinckelmann, J. Chelly 		6 2016
6
๐Ÿœ
๐Ÿœ Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
26 auth. V. Conti, Aurelie Carabalona, Emilie Pallesi-Pocachard, E. Parrini, R. Leventer, E. Buhler, G. McGillivray, F. Michel, P. Striano, D. Mei, F. Watrin, S. Lise, A. Pagnamenta, Jenny C. Taylor, U. Kini, ... J. Clayton-Smith, F. Novara, O. Zuffardi, W. Dobyns, I. Scheffer, S. Robertson, S. Berkovic, A. Represa, David A. Keays, C. Cardoso, R. Guerrini 		6 2013
6
๐Ÿœ
๐Ÿœ Improved Genome Assembly and Annotation for the Rock Pigeon (Columba livia)
12 auth. C. Holt, Michael Campbell, David A. Keays, Nathaniel B. Edelman, A. Kapusta, Emily T. Maclary, ... Eric T. Domyan, Alexander Suh, Wesley C. Warren, M. Yandell, M. Thomas P. Gilbert, Michael D. Shapiro 		5 2017
5
๐Ÿœ
๐Ÿœ A de novo frameshift in HNRNPK causing a Kabukiโ€like syndrome with nodular heterotopia
11 auth. Lukas Lange, A. Pagnamenta, S. Lise, S. Clasper, Helen Stewart, E. S. Akha, ... Gerardine Quaghebeur, Samantha J. L. Knight, David A. Keays, Jenny C. Taylor, U. Kini 		5 2016
5
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๐Ÿœ Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications
23 auth. Josephine Wincent, D. L. Bruno, B. V. Bon, Anna Bremer, H. Stewart, E. Bongers, C. Ockeloen, M. Willemsen, David A. Keays, Gillian Baird, ... D. Newbury, T. Kleefstra, Carlo M. Marcelis, U. Kini, Zornitza Stark, Ravi Savarirayan, Leslie J. Sheffield, O. Zuffardi, Howard R. Slater, B. B. D. Vries, S. Knight, B. Anderlid, J. Schoumans 		5 2011
5
๐Ÿœ
๐Ÿœ Periventricular heterotopia in 6 q terminal deletion syndrome : role of the C 6 orf 70 gene
26 auth. V. Conti, Aurelie Carabalona, Emilie Pallesi-Pocachard, E. Parrini, R. Leventer, E. Buhler, G. McGillivray, F. Michel, P. Striano, D. Mei, F. Watrin, S. Lise, A. Pagnamenta, Jenny C. Taylor, U. Kini, ... J. Clayton-Smith, F. Novara, O. Zuffardi, W. Dobyns, I. Scheffer, S. Robertson, S. Berkovic, A. Represa, David A. Keays, C. Cardoso, R. Guerrini 		3 2013
3
๐Ÿœ
๐Ÿข MAPping tubulin mutations
T. Cushion, Ines Leca, David A. Keays 		3 2023
3
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