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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
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
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
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
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
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
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
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
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
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
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
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
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
Biallelic expression of the H19 and IGF2 genes in human testicular germ cell tumors
RJ van Gurp, JW Oosterhuis, V Kalscheuer, ECM Mariman, ...
JNCI: Journal of the National Cancer Institute 86 (14), 1070-1075, 1994
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
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
Mapping translocation breakpoints by next-generation sequencing
W Chen, V Kalscheuer, A Tzschach, C Menzel, R Ullmann, MH Schulz, ...
Genome research 18 (7), 1143-1149, 2008
Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis
TR Consortium
Hum Mol Genet 7, 1185-1192, 1998
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation
VM Kalscheuer, K Freude, L Musante, LR Jensen, HG Yntema, J Gécz, ...
Nature genetics 35 (4), 313-315, 2003
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
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