Appointment Type |
Department |
Division |
Rank |
Primary |
Genetics |
Clinical Genetics |
Professor |
Secondary |
Pediatrics |
Pediatrics Chair Office |
Professor |
Center |
Civitan International Research Center |
Civitan International Research Center |
Professor |
Center |
Comp Arthritis, MSK, Bone & Autoimmunity Ctr |
Comp Arthritis, MSK, Bone & Autoimmunity Ctr |
Professor |
Center |
General Clinical Research Center |
Minority Health & Research Center |
Professor |
|
Integrative Biomedical Sciences |
|
Publication |
PUBMEDID |
Lyle R, Béna F, Gagos S, Gehrig C, Lopez G, Schinzel A, Lespinasse J, Bottani A, Dahoun S, Taine L, Doco-Fenzy M, Cornillet-Lefèbvre P, Pelet A, Lyonnet S, Toutain A, Colleaux L, Horst J, Kennerknecht I, Wakamatsu, Descartes M, Franklin JC, Florentin-Arar L, Kitsiou S, Aït Yahya-Graison E, Constantine M, Sinet P, Delabar JM, and Antonarakis SE. Genotype-phenotype correlations in Down syndrome indentified by array CGH in 30 cases of partial trisomy and partial monosomy 21. European Journal of Human Genetics, 4:454-66, 2009.
Tesla C, Korf BR, Holt L, Prucka S, Robin N, Descartes M, Lose E, Stembridge A, Epstein M, Warren S. AkstheGeneticist: Five Years of Online Experience. Genetics in Medicine. 11:294-304, 2009.
Descartes M, Royal SA, Franklin J, Goodin K, Mancuso M, Mikhail FM, Holt L. New syndrome with Stargardt macular degeneration, agenesis of the corpus callosum, mental retardation and dysmorphic features: a case report of two siblings. Clinical Dysmorphology. 18(3):178-80, 2009.
Ji JQ, Dimmock D, Tang LY, Descartes M, Gomez R, Rutledge SL, Schmitt ES, Wong LJ. A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping. Mitochondrion. 2010 Mar;10(2):188-91. Epub 2009 Nov 10.
Tischfield MA, Baris H, Gupta ML, Meindl A, Van Maldergem L, He W, Chan WM, Andrews C, Demer JL, Robertson RL, Mackey DA, Ruddle JB, Bird TD, Gottlob I, Pieh C, Traboulsi E, Pomeroy C, Hunter D, Soul J, Newlin A, Sabol LJ, Doherty E, de Uzcátegui CE, de Uzcátegui N, Collins ML, Sener EC, Wabbels B, Hellebrand H, Meitinger T, de Berardinis T, Magli A, Schiavi C, Pastore-Trossello M, Koc F, Wong A, Levin AL, Michael T. Geraghty MT, Descartes M, Flaherty M, Jamieson R, Moeller HU, Kerwin J, Lindsay S, Rudolph G, Pellman D, Engle EC. Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell. 140(1):74-87, 2010.
Nimmo G, Monsonego S, Descartes M, Franklin J, Steinberg S, Braverman N.Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1. Am J Med Genet A.152A(7):1812-7, 2010.
Mikhail F, Lose E, Robin N, Descartes M, Rutledge K, Rutledge S, Korf B, Carroll A. Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders. Am J Med Genet A. 155A(10):2386-96, 2011.
Descartes M, McGrath T, Bebin M. Monosomy1p36.3 and Trisomy 19p13.3 in a child with Periventricular Nodular Heteropia. Pediatr Neurol. 45(4):274-8, 2011.
Lamb AN, Rosenfeld JA, Neill NJ, Descartes M; et al. Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features. Hum Mutat. 33(4):728-40, 2012.
Wiszniewska J. Shaw C, Stankiewicz P, Bi W, Knag SH, Pursley AN, Lalani S, Hixson P, Gambin T, Tsai C, Bock HG, Descartes M, Probst F, Sacaglia F, Beaudet AL, Luspki JR, Eng C, Cheung SW, Bacino C, Patel A. Combined array CGH plus SNP genome analyses for optimized clinical diagnostics. Submitted to Eur J Hum Genet, 2013.
Mikhail FM, Burnside RD, Rush B, Ibrahim J, Godshalk R, Rutledge SL, Robin NH, Descartes M, Carroll AJ The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single entity: a proposed categorization system. Genet in Med, June, 2013.
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