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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1996 1
1998 1
1999 1
2001 1
2003 3
2004 5
2005 3
2006 3
2007 6
2008 2
2009 2
2010 8
2011 4
2012 7
2013 6
2014 6
2015 2
2016 2
2017 1
2018 2
2020 2
2021 1
2022 0
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61 results
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Page 1
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
Redin C, Gérard B, Lauer J, Herenger Y, Muller J, Quartier A, Masurel-Paulet A, Willems M, Lesca G, El-Chehadeh S, Le Gras S, Vicaire S, Philipps M, Dumas M, Geoffroy V, Feger C, Haumesser N, Alembik Y, Barth M, Bonneau D, Colin E, Dollfus H, Doray B, Delrue MA, Drouin-Garraud V, Flori E, Fradin M, Francannet C, Goldenberg A, Lumbroso S, Mathieu-Dramard M, Martin-Coignard D, Lacombe D, Morin G, Polge A, Sukno S, Thauvin-Robinet C, Thevenon J, Doco-Fenzy M, Genevieve D, Sarda P, Edery P, Isidor B, Jost B, Olivier-Faivre L, Mandel JL, Piton A. Redin C, et al. Among authors: drouin garraud v. J Med Genet. 2014 Nov;51(11):724-36. doi: 10.1136/jmedgenet-2014-102554. Epub 2014 Aug 28. J Med Genet. 2014. PMID: 25167861 Free PMC article.
Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.
Guilmatre A, Dubourg C, Mosca AL, Legallic S, Goldenberg A, Drouin-Garraud V, Layet V, Rosier A, Briault S, Bonnet-Brilhault F, Laumonnier F, Odent S, Le Vacon G, Joly-Helas G, David V, Bendavid C, Pinoit JM, Henry C, Impallomeni C, Germano E, Tortorella G, Di Rosa G, Barthelemy C, Andres C, Faivre L, Frébourg T, Saugier Veber P, Campion D. Guilmatre A, et al. Among authors: drouin garraud v. Arch Gen Psychiatry. 2009 Sep;66(9):947-56. doi: 10.1001/archgenpsychiatry.2009.80. Arch Gen Psychiatry. 2009. PMID: 19736351 Free PMC article. Review.
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Husson T, Lecoquierre F, Cassinari K, Charbonnier C, Quenez O, Goldenberg A, Guerrot AM, Richard AC, Drouin-Garraud V, Brehin AC, Soleimani M, Taton R, Rotharmel M, Rosier A, Chambon P, Le Meur N, Joly-Helas G, Saugier-Veber P, Boland A, Deleuze JF, Olaso R, Frebourg T, Nicolas G, Guillin O, Campion D. Husson T, et al. Among authors: drouin garraud v. Transl Psychiatry. 2020 Feb 24;10(1):77. doi: 10.1038/s41398-020-0760-7. Transl Psychiatry. 2020. PMID: 32094338 Free PMC article.
Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.
Schiff M, Roda C, Monin ML, Arion A, Barth M, Bednarek N, Bidet M, Bloch C, Boddaert N, Borgel D, Brassier A, Brice A, Bruneel A, Buissonnière R, Chabrol B, Chevalier MC, Cormier-Daire V, De Barace C, De Maistre E, De Saint-Martin A, Dorison N, Drouin-Garraud V, Dupré T, Echenne B, Edery P, Feillet F, Fontan I, Francannet C, Labarthe F, Gitiaux C, Héron D, Hully M, Lamoureux S, Martin-Coignard D, Mignot C, Morin G, Pascreau T, Pincemaille O, Polak M, Roubertie A, Thauvin-Robinet C, Toutain A, Viot G, Vuillaumier-Barrot S, Seta N, De Lonlay P. Schiff M, et al. Among authors: drouin garraud v. J Med Genet. 2017 Dec;54(12):843-851. doi: 10.1136/jmedgenet-2017-104903. Epub 2017 Sep 27. J Med Genet. 2017. PMID: 28954837 Review.
Type I hyperprolinemia: genotype/phenotype correlations.
Guilmatre A, Legallic S, Steel G, Willis A, Di Rosa G, Goldenberg A, Drouin-Garraud V, Guet A, Mignot C, Des Portes V, Valayannopoulos V, Van Maldergem L, Hoffman JD, Izzi C, Espil-Taris C, Orcesi S, Bonafé L, Le Galloudec E, Maurey H, Ioos C, Afenjar A, Blanchet P, Echenne B, Roubertie A, Frebourg T, Valle D, Campion D. Guilmatre A, et al. Among authors: drouin garraud v. Hum Mutat. 2010 Aug;31(8):961-5. doi: 10.1002/humu.21296. Hum Mutat. 2010. PMID: 20524212
TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella.
Thomas L, Bouhouche K, Whitfield M, Thouvenin G, Coste A, Louis B, Szymanski C, Bequignon E, Papon JF, Castelli M, Lemullois M, Dhalluin X, Drouin-Garraud V, Montantin G, Tissier S, Duquesnoy P, Copin B, Dastot F, Couvet S, Barbotin AL, Faucon C, Honore I, Maitre B, Beydon N, Tamalet A, Rives N, Koll F, Escudier E, Tassin AM, Touré A, Mitchell V, Amselem S, Legendre M. Thomas L, et al. Among authors: drouin garraud v. Am J Hum Genet. 2020 Feb 6;106(2):153-169. doi: 10.1016/j.ajhg.2019.12.010. Epub 2020 Jan 23. Am J Hum Genet. 2020. PMID: 31978331 Free PMC article.
Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation.
Bruneel A, Cholet S, Drouin-Garraud V, Jacquemont ML, Cano A, Mégarbané A, Ruel C, Cheillan D, Dupré T, Vuillaumier-Barrot S, Seta N, Fenaille F. Bruneel A, et al. Among authors: drouin garraud v. Electrophoresis. 2018 Dec;39(24):3123-3132. doi: 10.1002/elps.201800021. Epub 2018 Jul 3. Electrophoresis. 2018. PMID: 29869806
Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations.
Auré K, Dubourg O, Jardel C, Clarysse L, Sternberg D, Fournier E, Laforêt P, Streichenberger N, Petiot P, Gervais-Bernard H, Vial C, Bedat-Millet AL, Drouin-Garraud V, Bouillaud F, Vandier C, Fontaine B, Lombès A. Auré K, et al. Among authors: drouin garraud v. Neurology. 2013 Nov 19;81(21):1810-8. doi: 10.1212/01.wnl.0000436067.43384.0b. Epub 2013 Oct 23. Neurology. 2013. PMID: 24153443
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunner H, Bertola D, Chassaing N, David A, Devriendt K, Eftekhari P, Drouin-Garraud V, Faravelli F, Faivre L, Giuliano F, Guion Almeida L, Juncos J, Kempers M, Eker HK, Lacombe D, Lin A, Mancini G, Melis D, Lourenço CM, Siu VM, Morin G, Nezarati M, Nowaczyk MJ, Ramer JC, Osimani S, Philip N, Pierpont ME, Procaccio V, Roseli ZS, Rossi M, Rusu C, Sznajer Y, Templin L, Uliana V, Klaus M, Van Bon B, Van Ravenswaaij C, Wainer B, Fry AE, Rump A, Hoischen A, Drunat S, Rivière JB, Dobyns WB, Pilz DT. Verloes A, et al. Among authors: drouin garraud v. Eur J Hum Genet. 2015 Mar;23(3):292-301. doi: 10.1038/ejhg.2014.95. Epub 2014 Jul 23. Eur J Hum Genet. 2015. PMID: 25052316 Free PMC article.
61 results