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

Year Number of Results
1991 1
1992 1
1993 2
1995 2
1996 2
1997 2
1998 1
1999 4
2000 3
2001 5
2002 8
2003 1
2004 4
2005 4
2006 4
2007 3
2008 5
2009 3
2010 5
2011 3
2012 4
2013 3
2014 6
2015 7
2016 12
2017 2
2018 6
2019 10
2020 9
2021 9
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Search Results

116 results
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Page 1
Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress.
Kröll-Hermi A, Ebstein F, Stoetzel C, Geoffroy V, Schaefer E, Scheidecker S, Bär S, Takamiya M, Kawakami K, Zieba BA, Studer F, Pelletier V, Eyermann C, Speeg-Schatz C, Laugel V, Lipsker D, Sandron F, McGinn S, Boland A, Deleuze JF, Kuhn L, Chicher J, Hammann P, Friant S, Etard C, Krüger E, Muller J, Strähle U, Dollfus H. Kröll-Hermi A, et al. Among authors: geoffroy v. EMBO Mol Med. 2020 Jul 7;12(7):e11861. doi: 10.15252/emmm.201911861. Epub 2020 Jun 5. EMBO Mol Med. 2020. PMID: 32500975 Free PMC article.
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: geoffroy 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.
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.
Balak C, Benard M, Schaefer E, Iqbal S, Ramsey K, Ernoult-Lange M, Mattioli F, Llaci L, Geoffroy V, Courel M, Naymik M, Bachman KK, Pfundt R, Rump P, Ter Beest J, Wentzensen IM, Monaghan KG, McWalter K, Richholt R, Le Béchec A, Jepsen W, De Both M, Belnap N, Boland A, Piras IS, Deleuze JF, Szelinger S, Dollfus H, Chelly J, Muller J, Campbell A, Lal D, Rangasamy S, Mandel JL, Narayanan V, Huentelman M, Weil D, Piton A. Balak C, et al. Among authors: geoffroy v. Am J Hum Genet. 2019 Sep 5;105(3):509-525. doi: 10.1016/j.ajhg.2019.07.010. Epub 2019 Aug 15. Am J Hum Genet. 2019. PMID: 31422817 Free PMC article.
IL-36γ is a pivotal inflammatory player in periodontitis-associated bone loss.
Cloitre A, Halgand B, Sourice S, Caillon J, Huck O, Bugueno IM, Batool F, Guicheux J, Geoffroy V, Lesclous P. Cloitre A, et al. Among authors: geoffroy v. Sci Rep. 2019 Dec 17;9(1):19257. doi: 10.1038/s41598-019-55595-9. Sci Rep. 2019. PMID: 31848404 Free PMC article. Clinical Trial.
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.
Delvallée C, Nicaise S, Antin M, Leuvrey AS, Nourisson E, Leitch CC, Kellaris G, Stoetzel C, Geoffroy V, Scheidecker S, Keren B, Depienne C, Klar J, Dahl N, Deleuze JF, Génin E, Redon R, Demurger F, Devriendt K, Mathieu-Dramard M, Poitou-Bernert C, Odent S, Katsanis N, Mandel JL, Davis EE, Dollfus H, Muller J. Delvallée C, et al. Among authors: geoffroy v. Clin Genet. 2021 Feb;99(2):318-324. doi: 10.1111/cge.13878. Epub 2020 Nov 14. Clin Genet. 2021. PMID: 33169370
116 results
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