Deep sequencing reveals 50 novel genes for recessive cognitive disorders H Najmabadi, H Hu, M Garshasbi, T Zemojtel, SS Abedini, W Chen, ... Nature 478 (7367), 57-63, 2011 | 1031 | 2011 |
Germline KRAS mutations cause Noonan syndrome S Schubbert, M Zenker, SL Rowe, S Böll, C Klein, G Bollag, ... Nature genetics 38 (3), 331-336, 2006 | 852 | 2006 |
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes S Endele, G Rosenberger, K Geider, B Popp, C Tamer, I Stefanova, ... Nature genetics 42 (11), 1021-1026, 2010 | 564 | 2010 |
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation LR Jensen, M Amende, U Gurok, B Moser, V Gimmel, A Tzschach, ... The American Journal of Human Genetics 76 (2), 227-236, 2005 | 430 | 2005 |
Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation VM Kalscheuer, J Tao, A Donnelly, G Hollway, E Schwinger, S Kübart, ... The American Journal of Human Genetics 72 (6), 1401-1411, 2003 | 375 | 2003 |
Mutations in the X-linked cyclin-dependent kinase–like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation J Tao, H Van Esch, M Hagedorn-Greiwe, K Hoffmann, B Moser, ... The American Journal of Human Genetics 75 (6), 1149-1154, 2004 | 364 | 2004 |
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation T Bienvenu, K Poirier, G Friocourt, N Bahi, D Beaumont, F Fauchereau, ... Human molecular genetics 11 (8), 981-991, 2002 | 350 | 2002 |
Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency F Laumonnier, N Ronce, BCJ Hamel, P Thomas, J Lespinasse, ... The American Journal of Human Genetics 71 (6), 1450-1455, 2002 | 342 | 2002 |
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes H Hu, SA Haas, J Chelly, H Van Esch, M Raynaud, APM de Brouwer, ... Molecular psychiatry 21 (1), 133-148, 2016 | 310 | 2016 |
The insulin–like growth factor type–2 receptor gene is imprinted in the mouse but not in humans VM Kalscheuer, EC Mariman, MT Schepens, H Rehder, HH Ropers Nature genetics 5 (1), 74-78, 1993 | 298 | 1993 |
CDKL5 ensures excitatory synapse stability by reinforcing NGL-1–PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons S Ricciardi, F Ungaro, M Hambrock, N Rademacher, G Stefanelli, ... Nature cell biology 14 (9), 911-923, 2012 | 281 | 2012 |
Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling LS Blok, E Madsen, J Juusola, C Gilissen, D Baralle, MRF Reijnders, ... The American Journal of Human Genetics 97 (2), 343-352, 2015 | 270 | 2015 |
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly M Giannandrea, V Bianchi, ML Mignogna, A Sirri, S Carrabino, E d'Elia, ... The American Journal of Human Genetics 86 (2), 185-195, 2010 | 264 | 2010 |
Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology GR Wilson, JCH Sim, C McLean, M Giannandrea, CA Galea, JR Riseley, ... The American Journal of Human Genetics 95 (6), 729-735, 2014 | 241 | 2014 |
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome HG Kim, JW Ahn, I Kurth, R Ullmann, HT Kim, A Kulharya, KS Ha, ... The American Journal of Human Genetics 87 (4), 465-479, 2010 | 237 | 2010 |
Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients CC Schell‐Apacik, K Wagner, M Bihler, B Ertl‐Wagner, U Heinrich, ... American journal of medical genetics Part A 146 (19), 2501-2511, 2008 | 226 | 2008 |
Genomic organization and expression of the doublesex-related gene cluster in vertebrates and detection of putative regulatory regions for DMRT1 B Brunner, U Hornung, Z Shan, I Nanda, M Kondo, E Zend-Ajusch, T Haaf, ... Genomics 77 (1-2), 8-17, 2001 | 201 | 2001 |
Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion N Blagitko, S Mergenthaler, U Schulz, HA Wollmann, W Craigen, ... Human molecular genetics 9 (11), 1587-1595, 2000 | 201 | 2000 |
Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly RS Møller, S Kübart, M Hoeltzenbein, B Heye, I Vogel, CP Hansen, ... The American Journal of Human Genetics 82 (5), 1165-1170, 2008 | 198 | 2008 |
Genetics of intellectual disability in consanguineous families H Hu, K Kahrizi, L Musante, Z Fattahi, R Herwig, M Hosseini, C Oppitz, ... Molecular psychiatry 24 (7), 1027-1039, 2019 | 196 | 2019 |