Published in Nat Genet on September 01, 2008
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet (2009) 8.30
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet (2010) 3.82
A developmental and genetic classification for malformations of cortical development: update 2012. Brain (2012) 3.14
A developmental and genetic classification for midbrain-hindbrain malformations. Brain (2009) 2.47
CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. Am J Hum Genet (2009) 2.41
Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia. Orphanet J Rare Dis (2011) 1.71
FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. Nat Genet (2009) 1.66
Human Neuropsychiatric Disease Modeling using Conditional Deletion Reveals Synaptic Transmission Defects Caused by Heterozygous Mutations in NRXN1. Cell Stem Cell (2015) 1.63
The molecular basis of the Caskin1 and Mint1 interaction with CASK. J Mol Biol (2011) 1.56
ATP and MO25alpha regulate the conformational state of the STRADalpha pseudokinase and activation of the LKB1 tumour suppressor. PLoS Biol (2009) 1.47
Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis. Proc Natl Acad Sci U S A (2012) 1.26
Protein complexes that control renal epithelial polarity. Am J Physiol Renal Physiol (2011) 1.22
Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability. Am J Hum Genet (2008) 1.21
Intellectual disability and autism spectrum disorders: causal genes and molecular mechanisms. Neurosci Biobehav Rev (2014) 1.14
A missense mutation in CASK causes FG syndrome in an Italian family. Am J Hum Genet (2009) 1.12
CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes. Eur J Hum Genet (2009) 1.11
Congenital hypoplasia of the cerebellum: developmental causes and behavioral consequences. Front Neuroanat (2013) 1.02
Integrative analysis revealed the molecular mechanism underlying RBM10-mediated splicing regulation. EMBO Mol Med (2013) 1.01
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient. Orphanet J Rare Dis (2012) 0.97
A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism. J Med Genet (2009) 0.96
Natural history of Christianson syndrome. Am J Med Genet A (2010) 0.96
Tandem SAM domain structure of human Caskin1: a presynaptic, self-assembling scaffold for CASK. Structure (2011) 0.94
Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics. Lancet Neurol (2013) 0.94
Dlg3 trafficking and apical tight junction formation is regulated by nedd4 and nedd4-2 e3 ubiquitin ligases. Dev Cell (2011) 0.93
CASK (LIN2) interacts with Cx43 in wounded skin and their coexpression affects cell migration. J Cell Sci (2012) 0.93
Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH). Hum Genet (2011) 0.93
Lessons learnt from large-scale exon re-sequencing of the X chromosome. Hum Mol Genet (2009) 0.92
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome. Am J Hum Genet (2014) 0.92
Comparative analysis of Neph gene expression in mouse and chicken development. Histochem Cell Biol (2011) 0.91
Developmental disorders of the midbrain and hindbrain. Front Neuroanat (2012) 0.90
CASK and CaMKII function in the mushroom body α'/β' neurons during Drosophila memory formation. Front Neural Circuits (2013) 0.89
Neuroradiologic features of CASK mutations. AJNR Am J Neuroradiol (2010) 0.89
Autism spectrum disorder and epilepsy: Disorders with a shared biology. Epilepsy Behav (2015) 0.88
Neuronal excitation upregulates Tbr1, a high-confidence risk gene of autism, mediating Grin2b expression in the adult brain. Front Cell Neurosci (2014) 0.88
CASK regulates CaMKII autophosphorylation in neuronal growth, calcium signaling, and learning. Front Mol Neurosci (2013) 0.87
A meta-analysis of gene expression quantitative trait loci in brain. Transl Psychiatry (2014) 0.87
Mechanistic basis of MAGUK-organized complexes in synaptic development and signalling. Nat Rev Neurosci (2016) 0.87
Scaffolding proteins DLG1 and CASK cooperate to maintain the nephron progenitor population during kidney development. J Am Soc Nephrol (2013) 0.86
Clinical impacts of genomic copy number gains at Xq28. Hum Genome Var (2014) 0.85
Evolution of CASK into a Mg2+-sensitive kinase. Sci Signal (2010) 0.85
The niche factor syndecan-1 regulates the maintenance and proliferation of neural progenitor cells during mammalian cortical development. PLoS One (2012) 0.84
Novel approaches to studying the genetic basis of cerebellar development. Cerebellum (2010) 0.84
Genomic variants and variations in malformations of cortical development. Pediatr Clin North Am (2015) 0.84
Phenotypic and molecular insights into CASK-related disorders in males. Orphanet J Rare Dis (2015) 0.82
Identifying human disease genes through cross-species gene mapping of evolutionary conserved processes. PLoS One (2011) 0.82
Model organisms inform the search for the genes and developmental pathology underlying malformations of the human hindbrain. Semin Pediatr Neurol (2009) 0.82
A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia. J Med Genet (2013) 0.82
X-linked disorders with cerebellar dysgenesis. Orphanet J Rare Dis (2011) 0.82
Synapse assembly and neurodevelopmental disorders. Neuropsychopharmacology (2014) 0.81
Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 Microdeletions. Mol Syndromol (2012) 0.81
Update on neuroimaging phenotypes of mid-hindbrain malformations. Neuroradiology (2014) 0.80
SPTAN1 encephalopathy: distinct phenotypes and genotypes. J Hum Genet (2015) 0.80
Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly. BMC Med Genomics (2016) 0.79
Autism and Intellectual Disability-Associated KIRREL3 Interacts with Neuronal Proteins MAP1B and MYO16 with Potential Roles in Neurodevelopment. PLoS One (2015) 0.79
Malformations of cortical development. Ann Neurol (2016) 0.79
Identification and glycerol-induced correction of misfolding mutations in the X-linked mental retardation gene CASK. PLoS One (2014) 0.78
Gene networks underlying convergent and pleiotropic phenotypes in a large and systematically-phenotyped cohort with heterogeneous developmental disorders. PLoS Genet (2015) 0.78
Evolutionary genomics of human intellectual disability. Evol Appl (2009) 0.78
Brain-specific transcriptional regulator T-brain-1 controls brain wiring and neuronal activity in autism spectrum disorders. Front Neurosci (2015) 0.78
CASK and CaMKII function in Drosophila memory. Front Neurosci (2014) 0.77
SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements. J Hum Genet (2016) 0.77
The Involvement of Neuron-Specific Factors in Dendritic Spinogenesis: Molecular Regulation and Association with Neurological Disorders. Neural Plast (2015) 0.77
The genetics of cerebellar malformations. Semin Fetal Neonatal Med (2016) 0.77
Involvement of cortical fast-spiking parvalbumin-positive basket cells in epilepsy. Prog Brain Res (2016) 0.76
A new mode of SAM domain mediated oligomerization observed in the CASKIN2 neuronal scaffolding protein. Cell Commun Signal (2016) 0.75
Increased Excitatory Synaptic Transmission of Dentate Granule Neurons in Mice Lacking PSD-95-Interacting Adhesion Molecule Neph2/Kirrel3 during the Early Postnatal Period. Front Mol Neurosci (2017) 0.75
Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability. PLoS One (2017) 0.75
X-linked intellectual disability gene CASK regulates postnatal brain growth in a non-cell autonomous manner. Acta Neuropathol Commun (2016) 0.75
MICrocephaly, disproportionate pontine and cerebellar hypoplasia syndrome: A clinico-radiologic phenotype linked to calcium/calmodulin-dependent serine protein kinase gene mutation. Indian J Hum Genet (2013) 0.75
Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry. Eur J Hum Genet (2015) 0.75
Calcium/calmodulin-dependent serine protein kinase (CASK), a protein implicated in mental retardation and autism-spectrum disorders, interacts with T-Brain-1 (TBR1) to control extinction of associative memory in male mice. J Psychiatry Neurosci (2017) 0.75
A novel CASK mutation identified in siblings exhibiting developmental disorders with/without microcephaly. Intractable Rare Dis Res (2017) 0.75
Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH). PLoS One (2017) 0.75
The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease. Am J Hum Genet (2008) 8.78
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet (2012) 8.42
Walking the interactome for prioritization of candidate disease genes. Am J Hum Genet (2008) 7.03
Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet (2007) 6.75
Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet (2009) 6.13
Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia. Hum Mol Genet (2007) 5.28
Disruption of neurexin 1 associated with autism spectrum disorder. Am J Hum Genet (2008) 5.04
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature (2011) 4.85
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet (2012) 4.51
G protein-coupled receptor-dependent development of human frontal cortex. Science (2004) 4.42
Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Nat Genet (2002) 4.01
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet (2010) 3.82
Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. Am J Med Genet A (2004) 3.75
Autism as a paradigmatic complex genetic disorder. Annu Rev Genomics Hum Genet (2004) 3.65
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet (2010) 3.60
Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. Neuron (2004) 3.59
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet (2006) 3.26
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet (2003) 3.23
A developmental and genetic classification for malformations of cortical development: update 2012. Brain (2012) 3.14
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet (2002) 3.09
Clinical diagnostics in human genetics with semantic similarity searches in ontologies. Am J Hum Genet (2009) 3.01
Quiescent and active hippocampal neural stem cells with distinct morphologies respond selectively to physiological and pathological stimuli and aging. Cell Stem Cell (2010) 2.79
Microdissection based high resolution multicolor banding for all 24 human chromosomes. Int J Mol Med (2002) 2.74
Mapping translocation breakpoints by next-generation sequencing. Genome Res (2008) 2.73
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. Am J Med Genet A (2012) 2.70
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. Am J Hum Genet (2008) 2.65
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. Biol Psychiatry (2008) 2.60
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Nat Genet (2009) 2.57
Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. Am J Hum Genet (2007) 2.54
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell (2010) 2.49
Kindlin-2 is an essential component of intercalated discs and is required for vertebrate cardiac structure and function. Circ Res (2008) 2.48
The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. Am J Hum Genet (2004) 2.47
A developmental and genetic classification for midbrain-hindbrain malformations. Brain (2009) 2.47
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. Nat Genet (2010) 2.44
WDR62 is associated with the spindle pole and is mutated in human microcephaly. Nat Genet (2010) 2.40
Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options. Trends Neurosci (2008) 2.28
Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation. Hum Genet (2007) 2.22
Impact of the lung allocation score on lung transplantation for pulmonary arterial hypertension. Am J Respir Crit Care Med (2009) 2.19
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain (2010) 2.15
A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. Am J Hum Genet (2007) 2.13
Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. Am J Hum Genet (2009) 2.09
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nat Genet (2005) 1.98
Epilepsy and mental retardation limited to females: an under-recognized disorder. Brain (2008) 1.94
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nat Genet (2012) 1.93
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Ann Neurol (2006) 1.89
Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy. Am J Hum Genet (2013) 1.87
Subcellular localization of metabotropic GABA(B) receptor subunits GABA(B1a/b) and GABA(B2) in the rat hippocampus. J Neurosci (2003) 1.85
Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay. Am J Med Genet A (2007) 1.80
Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999. Blood (2004) 1.79
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. J Med Genet (2006) 1.79
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mutat (2004) 1.76
Lissencephaly and the molecular basis of neuronal migration. Hum Mol Genet (2003) 1.76
Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia. Nat Genet (2009) 1.75
The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. Brain (2007) 1.73
Results after balloon angioplasty or stenting of atherosclerotic subclavian artery obstruction. Catheter Cardiovasc Interv (2009) 1.71
CGHPRO -- a comprehensive data analysis tool for array CGH. BMC Bioinformatics (2005) 1.71
A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet (2009) 1.71
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Nat Genet (2012) 1.70
Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly. Am J Hum Genet (2008) 1.70
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet (2012) 1.70
Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity. Brain (2012) 1.69
PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance. J Clin Endocrinol Metab (2012) 1.68
FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. Nat Genet (2009) 1.66
Polymorphisms at the G72/G30 gene locus, on 13q33, are associated with bipolar disorder in two independent pedigree series. Am J Hum Genet (2003) 1.66
Intrapulmonary pharmacokinetics of linezolid. Antimicrob Agents Chemother (2002) 1.65
Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. Am J Hum Genet (2012) 1.65
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. Am J Hum Genet (2012) 1.64
Gene amplification as double minutes or homogeneously staining regions in solid tumors: origin and structure. Genome Res (2010) 1.62
Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation. Nat Genet (2004) 1.62
A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT. Blood (2013) 1.61
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. Brain (2010) 1.61
Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. Am J Hum Genet (2003) 1.61
Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome. Hum Genet (2004) 1.60
Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits. Hum Mutat (2010) 1.59
Identification of Arx transcriptional targets in the developing basal forebrain. Hum Mol Genet (2008) 1.58
Flores hominid: new species or microcephalic dwarf? Anat Rec A Discov Mol Cell Evol Biol (2006) 1.57
Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification. Hum Genet (2003) 1.57
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. Am J Hum Genet (2012) 1.57
Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: association of extra copy of MSX2 with craniosynostosis. Am J Med Genet A (2009) 1.55
Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet (2005) 1.55
Genetics of autism spectrum disorders. Curr Neurol Neurosci Rep (2009) 1.55
Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum. Am J Hum Genet (2007) 1.54
Malformations of cortical development and epilepsy. Dialogues Clin Neurosci (2008) 1.53
Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females. Brain (2009) 1.52
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. J Med Genet (2011) 1.50