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

Year Number of Results
2009 2
2010 1
2011 2
2012 1
2013 1
2014 2
2015 2
2016 3
2017 1
2018 2
2019 1
2022 2
2023 1
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20 results
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Page 1
Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases.
Testard Q, Vanhoye X, Yauy K, Naud ME, Vieville G, Rousseau F, Dauriat B, Marquet V, Bourthoumieu S, Geneviève D, Gatinois V, Wells C, Willems M, Coubes C, Pinson L, Dard R, Tessier A, Hervé B, Vialard F, Harzallah I, Touraine R, Cogné B, Deb W, Besnard T, Pichon O, Laudier B, Mesnard L, Doreille A, Busa T, Missirian C, Satre V, Coutton C, Celse T, Harbuz R, Raymond L, Taly JF, Thevenon J. Testard Q, et al. Among authors: harbuz r. J Med Genet. 2022 Dec;59(12):1234-1240. doi: 10.1136/jmg-2022-108439. Epub 2022 Sep 22. J Med Genet. 2022. PMID: 36137615
Evidence for high breakpoint variability in 46, XX, SRY-positive testicular disorder and frequent ARSE deletion that may be associated with short stature.
Capron C, Januel L, Vieville G, Jaillard S, Kuentz P, Salaun G, Nadeau G, Clement P, Brechard MP, Herve B, Dupont JM, Gruchy N, Chambon P, Abdelhedi F, Dahlen E, Vago P, Harbuz R, Plotton I, Coutton C, Belaud-Rotureau MA, Schluth-Bolard C, Vialard F. Capron C, et al. Among authors: harbuz r. Andrology. 2022 Nov;10(8):1625-1631. doi: 10.1111/andr.13279. Epub 2022 Sep 7. Andrology. 2022. PMID: 36026611 Free article.
Absent CNKSR2 causes seizures and intellectual, attention, and language deficits.
Vaags AK, Bowdin S, Smith ML, Gilbert-Dussardier B, Brocke-Holmefjord KS, Sinopoli K, Gilles C, Haaland TB, Vincent-Delorme C, Lagrue E, Harbuz R, Walker S, Marshall CR, Houge G, Kalscheuer VM, Scherer SW, Minassian BA. Vaags AK, et al. Among authors: harbuz r. Ann Neurol. 2014 Nov;76(5):758-64. doi: 10.1002/ana.24274. Epub 2014 Oct 4. Ann Neurol. 2014. PMID: 25223753
Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD).
Hyon C, Chantot-Bastaraud S, Harbuz R, Bhouri R, Perrot N, Peycelon M, Sibony M, Rojo S, Piguel X, Bilan F, Gilbert-Dussardier B, Kitzis A, McElreavey K, Siffroi JP, Bashamboo A. Hyon C, et al. Among authors: harbuz r. Am J Med Genet A. 2015 Aug;167A(8):1851-8. doi: 10.1002/ajmg.a.37101. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25900885 Free article.
A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH.
Poirsier C, Besseau-Ayasse J, Schluth-Bolard C, Toutain J, Missirian C, Le Caignec C, Bazin A, de Blois MC, Kuentz P, Catty M, Choiset A, Plessis G, Basinko A, Letard P, Flori E, Jimenez M, Valduga M, Landais E, Lallaoui H, Cartault F, Lespinasse J, Martin-Coignard D, Callier P, Pebrel-Richard C, Portnoi MF, Busa T, Receveur A, Amblard F, Yardin C, Harbuz R, Prieur F, Le Meur N, Pipiras E, Kleinfinger P, Vialard F, Doco-Fenzy M. Poirsier C, et al. Among authors: harbuz r. Eur J Hum Genet. 2016 Jun;24(6):844-51. doi: 10.1038/ejhg.2015.219. Epub 2015 Oct 28. Eur J Hum Genet. 2016. PMID: 26508576 Free PMC article.
PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans.
Le Tanno P, Breton J, Bidart M, Satre V, Harbuz R, Ray PF, Bosson C, Dieterich K, Jaillard S, Odent S, Poke G, Beddow R, Digilio MC, Novelli A, Bernardini L, Pisanti MA, Mackenroth L, Hackmann K, Vogel I, Christensen R, Fokstuen S, Béna F, Amblard F, Devillard F, Vieville G, Apostolou A, Jouk PS, Guebre-Egziabher F, Sartelet H, Coutton C. Le Tanno P, et al. Among authors: harbuz r. J Med Genet. 2017 Jul;54(7):502-510. doi: 10.1136/jmedgenet-2016-104435. Epub 2017 Mar 7. J Med Genet. 2017. PMID: 28270404
[Function of aurora kinase C (AURKC) in human reproduction].
Harbuz R, Zouari R, Dieterich K, Nikas Y, Lunardi J, Hennebicq S, Ray PF. Harbuz R, et al. Gynecol Obstet Fertil. 2009 Jun;37(6):546-51. doi: 10.1016/j.gyobfe.2009.04.002. Epub 2009 May 17. Gynecol Obstet Fertil. 2009. PMID: 19447663 French.
20 results