Published in Annu Rev Genomics Hum Genet on January 01, 2007
Relative burden of large CNVs on a range of neurodevelopmental phenotypes. PLoS Genet (2011) 2.46
Genetic and Environmental Influences on Aspects of Literacy and Language in Early Childhood: Continuity and Change from Preschool to Grade 2. J Neurolinguistics (2009) 2.18
A whole-genome scan and fine-mapping linkage study of auditory-visual synesthesia reveals evidence of linkage to chromosomes 2q24, 5q33, 6p12, and 12p12. Am J Hum Genet (2009) 1.50
Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia. Dev Med Child Neurol (2013) 1.44
Genetics of developmental dyslexia. Eur Child Adolesc Psychiatry (2009) 1.38
Predicting individual differences in reading comprehension: a twin study. Ann Dyslexia (2010) 1.34
DCDC2, KIAA0319 and CMIP are associated with reading-related traits. Biol Psychiatry (2011) 1.29
Inter-relationships among behavioral markers, genes, brain and treatment in dyslexia and dysgraphia. Future Neurol (2010) 1.26
The future of genetics in psychology and psychiatry: microarrays, genome-wide association, and non-coding RNA. J Child Psychol Psychiatry (2009) 1.26
A genome-wide association study identifies multiple loci associated with mathematics ability and disability. Genes Brain Behav (2009) 1.25
A common variant associated with dyslexia reduces expression of the KIAA0319 gene. PLoS Genet (2009) 1.20
Genes, cognition, and communication: insights from neurodevelopmental disorders. Ann N Y Acad Sci (2009) 1.16
Neurodevelopmental disorders: cluster 2 of the proposed meta-structure for DSM-V and ICD-11. Psychol Med (2009) 1.08
Recent advances in the genetics of language impairment. Genome Med (2010) 1.06
Heritability of high reading ability and its interaction with parental education. Behav Genet (2009) 1.06
Reading and Generalist Genes. Mind Brain Educ (2007) 1.04
Analysis of dyslexia candidate genes in the Raine cohort representing the general Australian population. Genes Brain Behav (2010) 1.02
Progress towards a cellular neurobiology of reading disability. Neurobiol Dis (2009) 0.97
Neocortical disruption and behavioral impairments in rats following in utero RNAi of candidate dyslexia risk gene Kiaa0319. Int J Dev Neurosci (2012) 0.96
Genetic influences of cortical gray matter in language-related regions in healthy controls and schizophrenia. Schizophr Res (2011) 0.95
Polymorphism of DCDC2 Reveals Differences in Cortical Morphology of Healthy Individuals-A Preliminary Voxel Based Morphometry Study. Brain Imaging Behav (2008) 0.93
The dyslexia-associated protein KIAA0319 interacts with adaptor protein 2 and follows the classical clathrin-mediated endocytosis pathway. Am J Physiol Cell Physiol (2009) 0.92
Identification of candidate genes for dyslexia susceptibility on chromosome 18. PLoS One (2010) 0.92
The genetic relationship between handedness and neurodevelopmental disorders. Trends Mol Med (2013) 0.89
Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort. Eur J Hum Genet (2013) 0.89
The dyslexia-associated KIAA0319 protein undergoes proteolytic processing with {gamma}-secretase-independent intramembrane cleavage. J Biol Chem (2010) 0.88
Evidence for the late MMN as a neurophysiological endophenotype for dyslexia. PLoS One (2012) 0.87
Dissection of genetic associations with language-related traits in population-based cohorts. J Neurodev Disord (2011) 0.87
Detection of doublecortin domain-containing 2 (DCDC2), a new candidate tumor suppressor gene of hepatocellular carcinoma, by triple combination array analysis. J Exp Clin Cancer Res (2013) 0.87
Reading and language disorders: the importance of both quantity and quality. Genes (Basel) (2014) 0.86
Sex-specific gray matter volume differences in females with developmental dyslexia. Brain Struct Funct (2013) 0.86
Reading into neuronal oscillations in the visual system: implications for developmental dyslexia. Front Hum Neurosci (2013) 0.85
FOXP2 drives neuronal differentiation by interacting with retinoic acid signaling pathways. Front Cell Neurosci (2014) 0.83
Mutation of the dyslexia-associated gene Dcdc2 impairs LTM and visuo-spatial performance in mice. Genes Brain Behav (2011) 0.82
Genetic influences of resting state fMRI activity in language-related brain regions in healthy controls and schizophrenia patients: a pilot study. Brain Imaging Behav (2013) 0.81
Dyslexia: bridging the gap between hearing and reading. Curr Biol (2009) 0.80
Child and environmental risk factors predicting readiness for learning in children at high risk of dyslexia. Dev Psychopathol (2016) 0.80
The genetics of reading disability in an often excluded sample: novel loci suggested for reading disability in Rolandic epilepsy. PLoS One (2012) 0.79
Oral language deficits in familial dyslexia: A meta-analysis and review. Psychol Bull (2016) 0.79
Postural control is not systematically related to reading skills: implications for the assessment of balance as a risk factor for developmental dyslexia. PLoS One (2014) 0.75
Environmental Risk Factors in Han and Uyghur Children with Dyslexia: A Comparative Study. PLoS One (2016) 0.75
Opposite Associations between Individual KIAA0319 Polymorphisms and Developmental Dyslexia Risk across Populations: A Stratified Meta-Analysis by the Study Population. Sci Rep (2016) 0.75
Reading disorders and dyslexia. Curr Opin Pediatr (2016) 0.75
Stuttering candidate genes DRD2 but not SLC6A3 is associated with developmental dyslexia in Chinese population. Behav Brain Funct (2014) 0.75
Normal radial migration and lamination are maintained in dyslexia-susceptibility candidate gene homolog Kiaa0319 knockout mice. Brain Struct Funct (2016) 0.75
Genetic polymorphism of nonsyndromic cleft lip with or without cleft palate is associated with developmental dyslexia in Chinese school-aged populations. J Hum Genet (2016) 0.75
Association study of stuttering candidate genes GNPTAB, GNPTG and NAGPA with dyslexia in Chinese population. BMC Genet (2015) 0.75
Neurobiological bases of reading disorder Part I: Etiological investigations. Lang Linguist Compass (2017) 0.75
Chlamydomonas DYX1C1/PF23 is essential for axonemal assembly and proper morphology of inner dynein arms. PLoS Genet (2017) 0.75
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
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02
Molecular evolution of FOXP2, a gene involved in speech and language. Nature (2002) 5.89
A functional genetic link between distinct developmental language disorders. N Engl J Med (2008) 4.99
Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits. Am J Hum Genet (2005) 3.50
A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet (2010) 3.42
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. PLoS Genet (2012) 2.65
FOXP2 expression during brain development coincides with adult sites of pathology in a severe speech and language disorder. Brain (2003) 2.55
Independent genome-wide scans identify a chromosome 18 quantitative-trait locus influencing dyslexia. Nat Genet (2001) 2.48
Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Hum Mol Genet (2012) 2.46
The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration. Hum Mol Genet (2006) 2.14
A 15q13.3 microdeletion segregating with autism. Eur J Hum Genet (2008) 2.12
Costs of ABO incompatible living donor transplantation are justified. Transplantation (2006) 2.07
Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia. Biol Psychiatry (2010) 2.07
A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and from the United States. Am J Hum Genet (2004) 1.76
Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. Sci Transl Med (2010) 1.75
Association of the KIAA0319 dyslexia susceptibility gene with reading skills in the general population. Am J Psychiatry (2008) 1.69
A genomewide scan for loci involved in attention-deficit/hyperactivity disorder. Am J Hum Genet (2002) 1.63
Use of multivariate linkage analysis for dissection of a complex cognitive trait. Am J Hum Genet (2003) 1.62
Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits. Hum Mutat (2010) 1.59
Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT. Am J Hum Genet (2005) 1.56
Deciphering the genetic basis of speech and language disorders. Annu Rev Neurosci (2003) 1.53
A whole-genome scan and fine-mapping linkage study of auditory-visual synesthesia reveals evidence of linkage to chromosomes 2q24, 5q33, 6p12, and 12p12. Am J Hum Genet (2009) 1.50
A genomewide linkage screen for relative hand skill in sibling pairs. Am J Hum Genet (2002) 1.46
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. Hum Genet (2011) 1.43
Genetic linkage of attention-deficit/hyperactivity disorder on chromosome 16p13, in a region implicated in autism. Am J Hum Genet (2002) 1.39
Outcomes with conversion from calcineurin inhibitors to sirolimus after renal transplantation in the context of steroid withdrawal or steroid continuation. Transplantation (2009) 1.39
A genomewide scan for attention-deficit/hyperactivity disorder in an extended sample: suggestive linkage on 17p11. Am J Hum Genet (2003) 1.36
CMIP and ATP2C2 modulate phonological short-term memory in language impairment. Am J Hum Genet (2009) 1.34
DCDC2, KIAA0319 and CMIP are associated with reading-related traits. Biol Psychiatry (2011) 1.29
Chorein detection for the diagnosis of chorea-acanthocytosis. Ann Neurol (2004) 1.28
Donation after circulatory death: current practices, ongoing challenges, and potential improvements. Transplantation (2014) 1.26
MET and autism susceptibility: family and case-control studies. Eur J Hum Genet (2008) 1.24
Genetic influences on language impairment and phonological short-term memory. Trends Cogn Sci (2005) 1.22
A common variant associated with dyslexia reduces expression of the KIAA0319 gene. PLoS Genet (2009) 1.20
Clinical features and molecular bases of neuroacanthocytosis. J Mol Med (Berl) (2002) 1.20
PCSK6 is associated with handedness in individuals with dyslexia. Hum Mol Genet (2010) 1.14
Prevention and cure of autoimmune diabetes in nonobese diabetic mice by continuous administration of FTY720. Transplantation (2005) 1.12
Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection. Eur J Hum Genet (2009) 1.07
Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases. Hum Mutat (2006) 1.07
On the intraoperative molecular status of renal allografts after vascular reperfusion and clinical outcomes. J Am Soc Nephrol (2005) 1.07
Oxidised LDL internalisation by the LOX-1 scavenger receptor is dependent on a novel cytoplasmic motif and is regulated by dynamin-2. J Cell Sci (2008) 1.06
Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability. J Med Genet (2010) 1.06
Recent advances in the genetics of language impairment. Genome Med (2010) 1.06
Rabbit antithymocyte globulin (thymoglobulin): 25 years and new frontiers in solid organ transplantation and haematology. Drugs (2010) 1.03
Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene. J Invest Dermatol (2002) 1.01
Familial and genetic effects on motor coordination, laterality, and reading-related cognition. Am J Psychiatry (2003) 1.00
Autism: in search of susceptibility genes. Neuromolecular Med (2002) 1.00
A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3. J Neurodev Disord (2011) 0.99
Novel membrane traffic steps regulate the exocytosis of the Menkes disease ATPase. Hum Mol Genet (2002) 0.99
Mutation screening and association analysis of six candidate genes for autism on chromosome 7q. Eur J Hum Genet (2005) 0.99
Assessing the impact of FOXP1 mutations on developmental verbal dyspraxia. Eur J Hum Genet (2009) 0.99
The dyslexia-associated gene KIAA0319 encodes highly N- and O-glycosylated plasma membrane and secreted isoforms. Hum Mol Genet (2007) 0.98
Confirmatory evidence for linkage of relative hand skill to 2p12-q11. Am J Hum Genet (2003) 0.97
Prevention of autoimmune diabetes by FTY720 in nonobese diabetic mice. Transplantation (2002) 0.97
Parent-of-origin effects on handedness and schizophrenia susceptibility on chromosome 2p12-q11. Hum Mol Genet (2003) 0.97
Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry. Mol Autism (2010) 0.97
Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve. Hum Mol Genet (2003) 0.96
Associations of HLA alleles with specific language impairment. J Neurodev Disord (2014) 0.95
Links between genetics and pathophysiology in the autism spectrum disorders. EMBO Mol Med (2011) 0.95
Common variants in left/right asymmetry genes and pathways are associated with relative hand skill. PLoS Genet (2013) 0.94
Activation of ADP-ribosylation factor regulates biogenesis of the ATP7A-containing trans-Golgi network compartment and its Cu-induced trafficking. Am J Physiol Cell Physiol (2007) 0.94
Cell biology of membrane trafficking in human disease. Int Rev Cytol (2006) 0.94
Aberrant trafficking of transmembrane proteins in human disease. Trends Cell Biol (2003) 0.93
Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism. J Neurodev Disord (2011) 0.93
Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder. Eur J Hum Genet (2012) 0.93
Linkage and candidate gene studies of autism spectrum disorders in European populations. Eur J Hum Genet (2010) 0.93
Alternative splicing in the dyslexia-associated gene KIAA0319. Mamm Genome (2007) 0.93
Trafficking of the Menkes copper transporter ATP7A is regulated by clathrin-, AP-2-, AP-1-, and Rab22-dependent steps. Mol Biol Cell (2013) 0.93
The dyslexia-associated protein KIAA0319 interacts with adaptor protein 2 and follows the classical clathrin-mediated endocytosis pathway. Am J Physiol Cell Physiol (2009) 0.92
Identification of candidate genes for dyslexia susceptibility on chromosome 18. PLoS One (2010) 0.92
Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis. Neurogenetics (2005) 0.91
Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis. Epilepsia (2005) 0.91
Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularin-related 2 gene, mutated in CMT4B. Gene (2002) 0.90
The Menkes disease ATPase (ATP7A) is internalized via a Rac1-regulated, clathrin- and caveolae-independent pathway. Hum Mol Genet (2003) 0.90
Genome-wide analysis of genetic susceptibility to language impairment in an isolated Chilean population. Eur J Hum Genet (2011) 0.89
The dyslexia-associated KIAA0319 protein undergoes proteolytic processing with {gamma}-secretase-independent intramembrane cleavage. J Biol Chem (2010) 0.88
The genetic basis of dyslexia. Lancet Neurol (2002) 0.88
Older living donors provide excellent quality kidneys: a single center experience (older living donors). Clin Transplant (2005) 0.88
CNVs leading to fusion transcripts in individuals with autism spectrum disorder. Eur J Hum Genet (2012) 0.86
The dyslexia candidate locus on 2p12 is associated with general cognitive ability and white matter structure. PLoS One (2012) 0.86
Utility of a mathematical nomogram to predict delayed graft function: a single-center experience. Transplantation (2006) 0.85
Genomic studies of gene expression: regulation of the Wilson disease gene. Genomics (2003) 0.85
SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample. Eur J Hum Genet (2006) 0.85
Chorea-acanthocytosis genotype in the original critchley kentucky neuroacanthocytosis kindred. Arch Neurol (2011) 0.85
Fine mapping of the chromosome 2p12-16 dyslexia susceptibility locus: quantitative association analysis and positional candidate genes SEMA4F and OTX1. Psychiatr Genet (2002) 0.84
Management of thrombophilia in renal transplant patients. Am J Transplant (2002) 0.84
A deletion involving CD38 and BST1 results in a fusion transcript in a patient with autism and asthma. Autism Res (2014) 0.84
Gene expression profiling of the donor kidney at the time of transplantation predicts clinical outcomes 2 years after transplantation. Hum Immunol (2010) 0.82
Actin and microtubule regulation of trans-Golgi network architecture, and copper-dependent protein transport to the cell surface. Mol Membr Biol (2003) 0.82
Use of an immune function assay to monitor immunosuppression for treatment of post-transplant lymphoproliferative disorder. Pediatr Transplant (2006) 0.82
Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment. Am J Med Genet A (2009) 0.81
Care of the live kidney donor: consensus on the ultimate gift. Transplantation (2005) 0.80
Early clinical heterogeneity in choreoacanthocytosis. Arch Neurol (2005) 0.79
Intensive care unit extubation does not preclude extrarenal organ recovery from donors after cardiac death. Transplantation (2005) 0.78
Chorea-acanthocytosis: clinical and genetic findings in three families from the Arabian peninsula. Mov Disord (2003) 0.78
Good samaritan kidney donation. Transplantation (2005) 0.78