Published in Psychiatr Genet on December 01, 2008
Genetic advances in the study of speech and language disorders. Neuron (2010) 1.33
FOXP2 gene and language impairment in schizophrenia: association and epigenetic studies. BMC Med Genet (2010) 0.99
Outcome of array CGH analysis for 255 subjects with intellectual disability and search for candidate genes using bioinformatics. Hum Genet (2010) 0.97
Subthreshold traits of the broad autistic spectrum are distributed across different subgroups in parents, but not siblings, of probands with autism. Eur Child Adolesc Psychiatry (2013) 0.86
ASD-relevant Animal Models of the Foxp Family of Transcription Factors. Autism Open Access (2012) 0.76
Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1. Mol Syndromol (2011) 0.75
Functional characterization of rare FOXP2 variants in neurodevelopmental disorder. J Neurodev Disord (2016) 0.75
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet (2006) 11.14
Protein interaction mapping: a Drosophila case study. Genome Res (2005) 4.15
Increased exonic de novo mutation rate in individuals with schizophrenia. Nat Genet (2011) 4.01
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet (2003) 3.96
Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. N Engl J Med (2009) 3.88
Direct measure of the de novo mutation rate in autism and schizophrenia cohorts. Am J Hum Genet (2010) 3.69
Subthalamic nucleus stimulation in severe obsessive-compulsive disorder. N Engl J Med (2008) 3.52
Early/recycling endosomes-to-TGN transport involves two SNARE complexes and a Rab6 isoform. J Cell Biol (2002) 3.36
De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia. Proc Natl Acad Sci U S A (2010) 3.13
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat Genet (2012) 2.86
Activation-induced polarized recycling targets T cell antigen receptors to the immunological synapse; involvement of SNARE complexes. Immunity (2004) 2.47
Cognitive dysfunction in psychiatric disorders: characteristics, causes and the quest for improved therapy. Nat Rev Drug Discov (2012) 2.44
Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. Am J Hum Genet (2007) 2.22
Retroviral genomic RNAs are transported to the plasma membrane by endosomal vesicles. Dev Cell (2003) 2.22
Identification of SNAREs involved in synaptotagmin VII-regulated lysosomal exocytosis. J Biol Chem (2004) 2.17
Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations. Am J Hum Genet (2009) 2.09
Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation. Am J Psychiatry (2006) 2.05
Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia. Hum Genet (2011) 1.94
Tequila, a neurotrypsin ortholog, regulates long-term memory formation in Drosophila. Science (2006) 1.93
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. Eur J Hum Genet (2008) 1.90
A dual mechanism controlling the localization and function of exocytic v-SNAREs. Proc Natl Acad Sci U S A (2003) 1.86
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation. Am J Hum Genet (2008) 1.82
Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation. Science (2002) 1.80
De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment. Am J Hum Genet (2010) 1.79
MED23 mutation links intellectual disability to dysregulation of immediate early gene expression. Science (2011) 1.74
Phenotypic determinants of uncontrolled asthma. J Allergy Clin Immunol (2009) 1.73
Genetics of dopamine receptors and drug addiction: a comprehensive review. Behav Pharmacol (2009) 1.72
Ataluren (PTC124) induces cystic fibrosis transmembrane conductance regulator protein expression and activity in children with nonsense mutation cystic fibrosis. Am J Respir Crit Care Med (2010) 1.71
TI-VAMP/VAMP7 is required for optimal phagocytosis of opsonised particles in macrophages. EMBO J (2004) 1.71
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am J Hum Genet (2011) 1.70
Longins and their longin domains: regulated SNAREs and multifunctional SNARE regulators. Trends Biochem Sci (2004) 1.65
Normal function of the cystic fibrosis conductance regulator protein can be associated with homozygous (Delta)F508 mutation. Pediatr Res (2002) 1.61
SNAP-25 modulation of calcium dynamics underlies differences in GABAergic and glutamatergic responsiveness to depolarization. Neuron (2004) 1.56
MT1-MMP-dependent invasion is regulated by TI-VAMP/VAMP7. Curr Biol (2008) 1.55
Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome. Hum Mol Genet (2006) 1.50
Is DSM-IV bereavement exclusion for major depression relevant to treatment response? A case-control, prospective study. J Clin Psychiatry (2010) 1.45
Attentional skills during the first 6 months of age in autism spectrum disorder. J Am Acad Child Adolesc Psychiatry (2002) 1.44
Should the beneficial impact of bezafibrate on fatty acid oxidation disorders be questioned? J Inherit Metab Dis (2014) 1.44
Penetration of enfuvirtide, tenofovir, efavirenz, and protease inhibitors in the genital tract of HIV-1-infected men. AIDS (2004) 1.44
Longitudinal evaluation and risk factors of lipodystrophy and associated metabolic changes in HIV-infected children. J Acquir Immune Defic Syndr (2005) 1.41
Multiple roles of the vesicular-SNARE TI-VAMP in post-Golgi and endosomal trafficking. FEBS Lett (2009) 1.40
The role of the cerebellum in schizophrenia: an update of clinical, cognitive, and functional evidences. Schizophr Bull (2007) 1.38
Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation. Am J Hum Genet (2009) 1.38
The fragile X mental retardation protein is a molecular adaptor between the neurospecific KIF3C kinesin and dendritic RNA granules. Hum Mol Genet (2007) 1.36
Modulation of the respiratory rhythm generator by the pontine noradrenergic A5 and A6 groups in rodents. Respir Physiol Neurobiol (2004) 1.31
Perception of complex sounds in autism: abnormal auditory cortical processing in children. Am J Psychiatry (2004) 1.30
Neurobehavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood. Pediatrics (2008) 1.29
Loss of AP-3 function affects spontaneous and evoked release at hippocampal mossy fiber synapses. Proc Natl Acad Sci U S A (2006) 1.28
Role of HRB in clathrin-dependent endocytosis. J Biol Chem (2008) 1.28
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. Hum Mutat (2009) 1.28
Cdc42 and actin control polarized expression of TI-VAMP vesicles to neuronal growth cones and their fusion with the plasma membrane. Mol Biol Cell (2005) 1.26
Perception of complex sounds: abnormal pattern of cortical activation in autism. Am J Psychiatry (2003) 1.25
De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism. Biol Psychiatry (2011) 1.25
A molecular network for the transport of the TI-VAMP/VAMP7 vesicles from cell center to periphery. Dev Cell (2012) 1.22
VAMP7 controls T cell activation by regulating the recruitment and phosphorylation of vesicular Lat at TCR-activation sites. Nat Immunol (2013) 1.21
v-SNARE cellubrevin is required for basolateral sorting of AP-1B-dependent cargo in polarized epithelial cells. J Cell Biol (2007) 1.21
Association of BDNF with anorexia, bulimia and age of onset of weight loss in six European populations. Hum Mol Genet (2004) 1.20
Cardiovascular risk factor levels and their relationships with overweight and fat distribution in children: the Fleurbaix Laventie Ville Santé II study. Metabolism (2007) 1.20
Streptococcus thermophilus and Lactobacillus delbrueckii subsp. bulgaricus survive gastrointestinal transit of healthy volunteers consuming yogurt. FEMS Microbiol Lett (2005) 1.20
A rapid microarray based whole genome analysis for detection of uniparental disomy. Hum Mutat (2005) 1.19
DYRK1A interacts with the REST/NRSF-SWI/SNF chromatin remodelling complex to deregulate gene clusters involved in the neuronal phenotypic traits of Down syndrome. Hum Mol Genet (2009) 1.19
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. Am J Hum Genet (2010) 1.18
Decrease of prefrontal metabolism after subthalamic stimulation in obsessive-compulsive disorder: a positron emission tomography study. Biol Psychiatry (2010) 1.17
Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations. Hum Mutat (2007) 1.16
Vaccination of melanoma patients using dendritic cells loaded with an allogeneic tumor cell lysate. Cancer Immunol Immunother (2005) 1.16
Vesicle associated membrane protein (VAMP)-7 and VAMP-8, but not VAMP-2 or VAMP-3, are required for activation-induced degranulation of mature human mast cells. Eur J Immunol (2008) 1.15
Confocal imaging and tracking of the exocytotic routes for D-serine-mediated gliotransmission. Glia (2008) 1.15
Tetanus neurotoxin-mediated cleavage of cellubrevin impairs epithelial cell migration and integrin-dependent cell adhesion. Proc Natl Acad Sci U S A (2005) 1.15
Binge eating and psychopathology in severely obese adolescents. Int J Eat Disord (2003) 1.14
Association of BDNF with restricting anorexia nervosa and minimum body mass index: a family-based association study of eight European populations. Eur J Hum Genet (2005) 1.13
Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL Gene. Hum Mutat (2006) 1.13
Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. Am J Hum Genet (2004) 1.13
Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome. Eur J Hum Genet (2006) 1.11
Expression of the Longin domain of TI-VAMP impairs lysosomal secretion and epithelial cell migration. Biol Cell (2007) 1.11
Identifying gene-environment interactions in schizophrenia: contemporary challenges for integrated, large-scale investigations. Schizophr Bull (2014) 1.10
Dynamic interaction of amphiphysin with N-WASP regulates actin assembly. J Biol Chem (2009) 1.10
Role of Varp, a Rab21 exchange factor and TI-VAMP/VAMP7 partner, in neurite growth. EMBO Rep (2009) 1.10
Progressive loss of dopaminergic neurons in the ventral midbrain of adult mice heterozygote for Engrailed1. J Neurosci (2007) 1.10
Altered axonal targeting and short-term plasticity in the hippocampus of Disc1 mutant mice. Proc Natl Acad Sci U S A (2011) 1.09
Autism-related routines and rituals associated with a mitochondrial aspartate/glutamate carrier SLC25A12 polymorphism. Am J Med Genet B Neuropsychiatr Genet (2008) 1.08
Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome. Hum Mutat (2008) 1.08
The tetanus neurotoxin-sensitive and insensitive routes to and from the plasma membrane: fast and slow pathways? Traffic (2005) 1.08
SMARCA2 and other genome-wide supported schizophrenia-associated genes: regulation by REST/NRSF, network organization and primate-specific evolution. Hum Mol Genet (2010) 1.07
Substrate recognition mechanism of VAMP/synaptobrevin-cleaving clostridial neurotoxins. J Biol Chem (2008) 1.07
The etiology of behavioral problems and competencies in very young twins. J Abnorm Psychol (2008) 1.06
Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy. Neuron (2013) 1.06
What is the function of neuronal AP-3? Biol Cell (2007) 1.05
Massively multiplayer online role-playing games: comparing characteristics of addict vs non-addict online recruited gamers in a French adult population. BMC Psychiatry (2011) 1.05
Distinct v-SNAREs regulate direct and indirect apical delivery in polarized epithelial cells. J Cell Sci (2007) 1.05
Population-based and family-based association study of 5'UTR polymorphism of the reelin gene and schizophrenia. Am J Med Genet B Neuropsychiatr Genet (2005) 1.05