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Author/Creator Genevieve, David

1. Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11. Issue 11 (8th September 2016)

Authors:
Goldenberg, Alice; Riccardi, Florence; Tessier, Aude; Pfundt, Rolph; Busa, Tiffany; Cacciagli, Pierre; Capri, Yline; Coutton, Charles; Delahaye‐Duriez, Andree; Frebourg, Thierry; Gatinois, Vincent; Guerrot, Anne‐Marie; Genevieve, David; Lecoquierre, Francois; Jacquette, Aurélia; Khau Van Kien, Ph...
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 11(2016)
Page Start:
2847
Record Type:
Journal Article
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2. Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome. (21st September 2020)

Authors:
Bar, Claire; Kuchenbuch, Mathieu; Barcia, Giulia; Schneider, Amy; Jennesson, Mélanie; Le Guyader, Gwenaël; Lesca, Gaetan; Mignot, Cyril; Montomoli, Martino; Parrini, Elena; Isnard, Hervé; Rolland, Anne; Keren, Boris; Afenjar, Alexandra; Dorison, Nathalie; Sadleir, Lynette G.; Breuillard, Delphine...
Journal:
Epilepsia
Issue:
Volume 61:issue 11(2020)
Page Start:
2461
Record Type:
Journal Article
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3. Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. Issue 11 (28th August 2014)

Authors:
Redin, Claire; Gérard, Bénédicte; Lauer, Julia; Herenger, Yvan; Muller, Jean; Quartier, Angélique; Masurel-Paulet, Alice; Willems, Marjolaine; Lesca, Gaétan; El-Chehadeh, Salima; Le Gras, Stéphanie; Vicaire, Serge; Philipps, Muriel; Dumas, Michaël; Geoffroy, Véronique; Feger, Claire; Haumesser, N...
Journal:
Journal of medical genetics
Issue:
Volume 51:Issue 11(2014)
Page Start:
724
Record Type:
Journal Article
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4. Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature. Issue 1 (4th October 2019)

Authors:
Bar, Claire; Barcia, Giulia; Jennesson, Mélanie; Le Guyader, Gwenaël; Schneider, Amy; Mignot, Cyril; Lesca, Gaetan; Breuillard, Delphine; Montomoli, Martino; Keren, Boris; Doummar, Diane; Billette de Villemeur, Thierry; Afenjar, Alexandra; Marey, Isabelle; Gerard, Marion; Isnard, Hervé; Poisson, ...
Journal:
Human mutation
Issue:
Volume 41:Issue 1(2020)
Page Start:
69
Record Type:
Journal Article
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5. Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders. Issue 11 (21st August 2022)

Authors:
Levy, Michael A.; Relator, Raissa; McConkey, Haley; Pranckeviciene, Erinija; Kerkhof, Jennifer; Barat‐Houari, Mouna; Bargiacchi, Sara; Biamino, Elisa; Palomares Bralo, María; Cappuccio, Gerarda; Ciolfi, Andrea; Clarke, Angus; DuPont, Barbara R.; Elting, Mariet W.; Faivre, Laurence; Fee, Timothy; ...
Other Names:
Scott Stuart A. guestEditor.; Wang Kai guestEditor.; Spinner Nancy B. guestEditor.
Journal:
Human mutation
Issue:
Volume 43:Issue 11(2022)
Page Start:
1609
Record Type:
Journal Article
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7. The C20orf133 gene is disrupted in a patient with Kabuki syndrome. Issue 9 (23rd June 2007)

Authors:
Maas, Nicole M C; Van de Putte, Tom; Melotte, Cindy; Francis, Annick; Schrander-Stumpel, Constance T R M; Sanlaville, Damien; Genevieve, David; Lyonnet, Stanislas; Dimitrov, Boyan; Devriendt, Koenraad; Fryns, Jean-Pierre; Vermeesch, Joris R
Journal:
Journal of medical genetics
Issue:
Volume 44:Issue 9(2007)
Page Start:
562
Record Type:
Journal Article
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