Published in Am J Hum Genet on December 01, 2009
Role of Rab GTPases in membrane traffic and cell physiology. Physiol Rev (2011) 5.20
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature (2011) 4.85
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
TRAPP complexes in membrane traffic: convergence through a common Rab. Nat Rev Mol Cell Biol (2010) 1.50
The genetic basis of non-syndromic intellectual disability: a review. J Neurodev Disord (2010) 1.45
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. Hum Genet (2010) 1.31
Mutations in NSUN2 cause autosomal-recessive intellectual disability. Am J Hum Genet (2012) 1.24
Genome-wide assessment of imprinted expression in human cells. Genome Biol (2011) 1.22
Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity. Eur J Hum Genet (2011) 1.21
Molecular architecture of the TRAPPII complex and implications for vesicle tethering. Nat Struct Mol Biol (2010) 1.16
The adaptor function of TRAPPC2 in mammalian TRAPPs explains TRAPPC2-associated SEDT and TRAPPC9-associated congenital intellectual disability. PLoS One (2011) 1.13
Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. Am J Hum Genet (2013) 1.03
Intellectual disability is associated with increased runs of homozygosity in simplex autism. Am J Hum Genet (2013) 0.96
30 Years of NF-κB: A Blossoming of Relevance to Human Pathobiology. Cell (2017) 0.92
SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system. Am J Hum Genet (2010) 0.89
Allele-specific expression and eQTL analysis in mouse adipose tissue. BMC Genomics (2014) 0.89
Trs20 is required for TRAPP II assembly. Traffic (2013) 0.89
A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability. BMC Med Genet (2011) 0.86
Intellectual disability associated with a homozygous missense mutation in THOC6. Orphanet J Rare Dis (2013) 0.85
NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications. Eur J Hum Genet (2012) 0.84
The PEG13-DMR and brain-specific enhancers dictate imprinted expression within the 8q24 intellectual disability risk locus. Epigenetics Chromatin (2014) 0.83
TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype. Eur J Hum Genet (2012) 0.83
Charcot-Marie-Tooth disease and intracellular traffic. Prog Neurobiol (2012) 0.81
Interaction and antagonistic roles of NF-κB and Hes6 in the regulation of cortical neurogenesis. Mol Cell Biol (2013) 0.81
TRAIL and vitamins: opting for keys to castle of cancer proteome instead of open sesame. Cancer Cell Int (2012) 0.81
Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel. Neurogenetics (2011) 0.79
CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis. Cell Rep (2014) 0.78
Reduction of aberrant NF-κB signalling ameliorates Rett syndrome phenotypes in Mecp2-null mice. Nat Commun (2016) 0.78
The LCR at the IKBKG locus is prone to recombine. Am J Hum Genet (2010) 0.77
NFκB signaling regulates embryonic and adult neurogenesis. Front Biol (Beijing) (2012) 0.77
trappc11 is required for protein glycosylation in zebrafish and humans. Mol Biol Cell (2016) 0.76
Expression and function of NIK- and IKK2-binding protein (NIBP) in mouse enteric nervous system. Neurogastroenterol Motil (2013) 0.76
BOD1 Is Required for Cognitive Function in Humans and Drosophila. PLoS Genet (2016) 0.76
Fanconi-Bickel Syndrome: Two Pakistani Patients Presenting with Hypophosphatemic Rickets. J Pediatr Genet (2016) 0.75
Investigation of genetic causes of intellectual disability in kerman province, South East of iran. Iran Red Crescent Med J (2012) 0.75
Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction. Am J Hum Genet (2017) 0.75
Head circumference from birth to eighteen years. Practical composite international and interracial graphs. Pediatrics (1968) 4.08
Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways. Oncogene (2003) 3.53
X-linked mental retardation. Nat Rev Genet (2005) 3.10
Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. Am J Hum Genet (2005) 2.86
Celsius: a community resource for Affymetrix microarray data. Genome Biol (2007) 2.38
Science and society: genetic counselling and customary consanguineous marriage. Nat Rev Genet (2002) 2.35
XLMR genes: update 2007. Eur J Hum Genet (2008) 2.07
Identification and characterization of five new subunits of TRAPP. Eur J Cell Biol (2000) 1.84
Head circumference reference data: birth to 18 years. Pediatrics (1987) 1.75
Mutants in trs120 disrupt traffic from the early endosome to the late Golgi. J Cell Biol (2005) 1.71
Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci. Hum Genet (2006) 1.66
Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9. Am J Hum Genet (2008) 1.52
NIBP, a novel NIK and IKK(beta)-binding protein that enhances NF-(kappa)B activation. J Biol Chem (2005) 1.47
The Portage Project: a model for early childhood education. Except Child (1972) 1.42
Synbindin, A novel syndecan-2-binding protein in neuronal dendritic spines. J Cell Biol (2000) 1.41
Autism and multiple exostoses associated with an X;8 translocation occurring within the GRPR gene and 3' to the SDC2 gene. Hum Mol Genet (1997) 1.21
Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3. Hum Mol Genet (1995) 1.17
Conservation of the TRAPPII-specific subunits of a Ypt/Rab exchanger complex. BMC Evol Biol (2007) 1.05
Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet (2008) 15.51
Functional impact of global rare copy number variation in autism spectrum disorders. Nature (2010) 14.66
Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet (2007) 14.05
Meta-analysis and imputation refines the association of 15q25 with smoking quantity. Nat Genet (2010) 8.55
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet (2012) 8.42
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02
The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission. Epilepsia (2010) 6.23
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science (2012) 6.21
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature (2011) 4.85
Discovery of cross-reactive probes and polymorphic CpGs in the Illumina Infinium HumanMethylation450 microarray. Epigenetics (2013) 4.61
Abnormal brain development in newborns with congenital heart disease. N Engl J Med (2007) 4.55
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
LRP6 mutation in a family with early coronary disease and metabolic risk factors. Science (2007) 4.27
ACR guidance document for safe MR practices: 2007. AJR Am J Roentgenol (2007) 4.12
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell (2011) 3.95
Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. Am J Med Genet A (2004) 3.75
Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation. Hum Mutat (2007) 3.52
Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry. Proc Natl Acad Sci U S A (2009) 3.49
A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet (2010) 3.42
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat Genet (2007) 3.22
Clinical features of 78 adults with 22q11 Deletion Syndrome. Am J Med Genet A (2005) 3.13
Somatic mutations in cerebral cortical malformations. N Engl J Med (2014) 3.13
The schizophrenia phenotype in 22q11 deletion syndrome. Am J Psychiatry (2003) 3.04
Human chromosome 7: DNA sequence and biology. Science (2003) 3.02
Analysis and classification of cerebellar malformations. AJNR Am J Neuroradiol (2002) 3.00
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. Am J Hum Genet (2004) 2.99
5 versus 10 days of treatment with ceftriaxone for bacterial meningitis in children: a double-blind randomised equivalence study. Lancet (2011) 2.98
Clinical Neonatal Seizures are Independently Associated with Outcome in Infants at Risk for Hypoxic-Ischemic Brain Injury. J Pediatr (2009) 2.96
American College of Radiology White Paper on MR Safety. AJR Am J Roentgenol (2002) 2.87
Patterns of brain injury in term neonatal encephalopathy. J Pediatr (2005) 2.86
Somatic activation of AKT3 causes hemispheric developmental brain malformations. Neuron (2012) 2.84
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. Nat Genet (2010) 2.74
Mapping translocation breakpoints by next-generation sequencing. Genome Res (2008) 2.73
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. Am J Hum Genet (2008) 2.68
Balloon atrial septostomy is associated with preoperative stroke in neonates with transposition of the great arteries. Circulation (2006) 2.65
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Nat Genet (2002) 2.64
A role for common fragile site induction in amplification of human oncogenes. Cancer Cell (2002) 2.63
Early brain injury in premature newborns detected with magnetic resonance imaging is associated with adverse early neurodevelopmental outcome. J Pediatr (2005) 2.63
Diffusion tensor imaging: serial quantitation of white matter tract maturity in premature newborns. Neuroimage (2004) 2.58
Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. Am J Hum Genet (2007) 2.54
Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Hum Mol Genet (2012) 2.46
Meta-analysis of genome-wide association data identifies a risk locus for major mood disorders on 3p21.1. Nat Genet (2010) 2.46
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. Nat Genet (2010) 2.44
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. Nat Genet (2012) 2.43
Methylation of the TERT promoter and risk stratification of childhood brain tumours: an integrative genomic and molecular study. Lancet Oncol (2013) 2.34
Joubert syndrome (and related disorders) (OMIM 213300). Eur J Hum Genet (2007) 2.32
Thalassemia in Iran: epidemiology, prevention, and management. J Pediatr Hematol Oncol (2007) 2.29
SLC25A22 is a novel gene for migrating partial seizures in infancy. Ann Neurol (2013) 2.28
Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options. Trends Neurosci (2008) 2.28
Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder. J Med Genet (2009) 2.27
Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation. Hum Genet (2007) 2.22
Sequence overlap between autosomal and sex-linked probes on the Illumina HumanMethylation27 microarray. Genomics (2011) 2.19
A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. Am J Hum Genet (2008) 2.18
Beckwith-Wiedemann syndrome. Am J Med Genet C Semin Med Genet (2010) 2.15
Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia. Am J Hum Genet (2006) 2.14
Quantitative diffusion tensor MRI fiber tractography of sensorimotor white matter development in premature infants. Neuroimage (2005) 2.13
A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. Am J Hum Genet (2007) 2.13
Somatic mutation profiles of MSI and MSS colorectal cancer identified by whole exome next generation sequencing and bioinformatics analysis. PLoS One (2010) 2.10
Temporal and anatomic risk profile of brain injury with neonatal repair of congenital heart defects. Stroke (2007) 2.06
Comparing the diagnosis of white matter injury in premature newborns with serial MR imaging and transfontanel ultrasonography findings. AJNR Am J Neuroradiol (2003) 2.01
Neural stem cell engraftment and myelination in the human brain. Sci Transl Med (2012) 1.96
Serial quantitative diffusion tensor MRI of the premature brain: development in newborns with and without injury. J Magn Reson Imaging (2002) 1.96
A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function. J Neurosci (2007) 1.90
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome. Nat Genet (2004) 1.88
Up-regulation of glucocorticoid-regulated genes in a mouse model of Rett syndrome. Hum Mol Genet (2005) 1.87
Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation. Hum Mol Genet (2011) 1.87
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. Am J Hum Genet (2010) 1.87
Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. Am J Hum Genet (2010) 1.86
Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning. Science (2014) 1.85
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Am J Hum Genet (2009) 1.83
Epigenetically deregulated microRNA-375 is involved in a positive feedback loop with estrogen receptor alpha in breast cancer cells. Cancer Res (2010) 1.82
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
Influenza-associated encephalitis/encephalopathy with a reversible lesion in the splenium of the corpus callosum: a case report and literature review. AJNR Am J Neuroradiol (2004) 1.78
Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. Sci Transl Med (2010) 1.75
Human-specific regulation of MeCP2 levels in fetal brains by microRNA miR-483-5p. Genes Dev (2013) 1.70
Comparative study of methyl-CpG-binding domain proteins. BMC Genomics (2003) 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
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Hum Mutat (2007) 1.68
CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. Am J Hum Genet (2008) 1.67