| Disruption of neurexin 1 associated with autism spectrum disorder HG Kim, S Kishikawa, AW Higgins, IS Seong, DJ Donovan, Y Shen, ... The American Journal of Human Genetics 82 (1), 199-207, 2008 | 712 | 2008 |
| Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance MA Tischfield, HN Baris, C Wu, G Rudolph, L Van Maldergem, W He, ... Cell 140 (1), 74-87, 2010 | 619 | 2010 |
| Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21 R Lyle, F Béna, S Gagos, C Gehrig, G Lopez, A Schinzel, J Lespinasse, ... European Journal of Human Genetics 17 (4), 454-466, 2009 | 349 | 2009 |
| Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism … FM Mikhail, EJ Lose, NH Robin, MD Descartes, KD Rutledge, ... American journal of medical genetics Part A 155 (10), 2386-2396, 2011 | 196 | 2011 |
| Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing J Wiszniewska, W Bi, C Shaw, P Stankiewicz, SHL Kang, AN Pursley, ... European Journal of Human Genetics 22 (1), 79-87, 2014 | 147 | 2014 |
| Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features AN Lamb, JA Rosenfeld, NJ Neill, ME Talkowski, I Blumenthal, S Girirajan, ... Human mutation 33 (4), 728-740, 2012 | 119 | 2012 |
| Congenital diaphragmatic hernia: Is 15q26. 1‐26.2 a candidate locus? JR Biggio Jr, MD Descartes, AJ Carroll, RL Holt American Journal of Medical Genetics Part A 126 (2), 183-185, 2004 | 93 | 2004 |
| The recurrent distal 22q11. 2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system FM Mikhail, RD Burnside, B Rush, J Ibrahim, R Godshalk, SL Rutledge, ... Genetics in Medicine 16 (1), 92-100, 2014 | 62 | 2014 |
| A previously unrecognized microdeletion syndrome on chromosome 22 band q11. 2 encompassing the BCR gene FM Mikhail, M Descartes, A Piotrowski, R Andersson, T Diaz de Ståhl, ... American Journal of Medical Genetics Part A 143 (18), 2178-2184, 2007 | 49 | 2007 |
| Enzyme replacement therapy in mucopolysaccharidosis II patients under 1 year of age C Lampe, A Atherton, BK Burton, M Descartes, R Giugliani, DDG Horovitz, ... JIMD Reports, Volume 14, 99-113, 2014 | 46 | 2014 |
| Distal 22q11.2 microduplication encompassing the BCR gene M Descartes, J Franklin, TD de Ståhl, A Piotrowski, CEG Bruder, ... American Journal of Medical Genetics Part A 146 (23), 3075-3081, 2008 | 37 | 2008 |
| Screening for cystic fibrosis: feasibility of molecular genetic analysis of dried blood specimens WK Seltzer, F Accurso, MZ Fall, AJ VanRiper, M Descartes, Y Huang, ... Biochemical medicine and metabolic biology 46 (1), 105-109, 1991 | 37 | 1991 |
| Clinical relevance of small copy-number variants in chromosomal microarray clinical testing D Hollenbeck, CL Williams, K Drazba, M Descartes, BR Korf, SL Rutledge, ... Genetics in Medicine 19 (4), 377-385, 2017 | 35 | 2017 |
| Terminal deletion of the long arm of chromosome 4 in a mother and two sons M Descartes, K Keppler‐Noreuil, J Knops, JW Longshore, WH Finley, ... Clinical genetics 50 (6), 538-540, 1996 | 35 | 1996 |
| Genotypic confirmation from the original dried blood specimens in a neonatal hemoglobinopathy screening program M Descartes, Y Huang, YH Zhang, LL McCabe, R Gibbs, BL Therrell, ... Pediatric research 31 (3), 217-221, 1992 | 29 | 1992 |
| Clinical features associated with copy number variations of the 14q32 imprinted gene cluster JA Rosenfeld, JE Fox, M Descartes, F Brewer, T Stroud, JL Gorski, ... American Journal of Medical Genetics Part A 167 (2), 345-353, 2015 | 27 | 2015 |
| Hajdu–Cheney syndrome: phenotypical progression with de-novo: NOTCH2: mutation M Descartes, K Rojnueangnit, L Cole, A Sutton, SL Morgan, L Patry, ... Clinical Dysmorphology 23 (3), 88-94, 2014 | 27 | 2014 |
| Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1 G Nimmo, S Monsonego, M Descartes, J Franklin, S Steinberg, ... American Journal of Medical Genetics Part A 152 (7), 1812-1817, 2010 | 25 | 2010 |
| Molecular characterization of a patient with an interstitial 1q deletion [del (1)(q24. 1q25. 3)] and distinctive skeletal abnormalities M Descartes, JZ Hain, M Conklin, J Franklin, FM Mikhail, RS Lachman, ... American Journal of Medical Genetics Part A 146 (22), 2937-2943, 2008 | 22 | 2008 |
| A novel c. 592-4_c. 592-3delTT mutation in DGUOK gene causes exon skipping JQ Ji, D Dimmock, LY Tang, M Descartes, R Gomez, SL Rutledge, ... Mitochondrion 10 (2), 188-191, 2010 | 21 | 2010 |
