Published in J Med Genet on September 13, 2006
Diversity of human copy number variation and multicopy genes. Science (2010) 8.97
A genome-wide linkage and association scan reveals novel loci for autism. Nature (2009) 4.76
Autism, language delay and mental retardation in a patient with 7q11 duplication. J Med Genet (2007) 1.86
Is it Williams syndrome? GTF2IRD1 implicated in visual-spatial construction and GTF2I in sociability revealed by high resolution arrays. Am J Med Genet A (2009) 1.57
Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments. Hum Genomics (2015) 1.40
Reduced fear and aggression and altered serotonin metabolism in Gtf2ird1-targeted mice. Genes Brain Behav (2007) 1.37
A genome-wide screen for modifiers of transgene variegation identifies genes with critical roles in development. Genome Biol (2008) 1.35
Copy number variants at Williams-Beuren syndrome 7q11.23 region. Hum Genet (2010) 1.32
Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11. Am J Hum Genet (2008) 1.19
Rearrangements of the Williams-Beuren syndrome locus: molecular basis and implications for speech and language development. Expert Rev Mol Med (2007) 1.16
Ethical implications of array comparative genomic hybridization in complex phenotypes: points to consider in research. Genet Med (2007) 1.16
Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplications and identification of a novel microduplication in ASMT. BMC Med Genomics (2008) 1.15
Genomic sister-disorders of neurodevelopment: an evolutionary approach. Evol Appl (2009) 1.09
Gene × Environment interactions in autism spectrum disorders: role of epigenetic mechanisms. Front Psychiatry (2014) 1.05
An SNP in an ultraconserved regulatory element affects Dlx5/Dlx6 regulation in the forebrain. Development (2010) 1.04
Association of GTF2i in the Williams-Beuren syndrome critical region with autism spectrum disorders. J Autism Dev Disord (2012) 1.01
Biochemistry and biology of the inducible multifunctional transcription factor TFII-I: 10 years later. Gene (2011) 1.00
An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient. Eur J Hum Genet (2010) 1.00
δ ENaC: a novel divergent amiloride-inhibitable sodium channel. Am J Physiol Lung Cell Mol Physiol (2012) 0.98
Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems. Am J Hum Genet (2010) 0.97
Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase. Eur J Hum Genet (2008) 0.95
Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers. Clinics (Sao Paulo) (2011) 0.94
Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype. PLoS One (2012) 0.93
Using transcription modules to identify expression clusters perturbed in Williams-Beuren syndrome. PLoS Comput Biol (2011) 0.92
Animal models of Williams syndrome. Am J Med Genet C Semin Med Genet (2010) 0.92
The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome. Am J Hum Genet (2012) 0.91
Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits. Eur J Hum Genet (2013) 0.89
Essential role of the N-terminal region of TFII-I in viability and behavior. BMC Med Genet (2010) 0.85
Visual phenotype in Williams-Beuren syndrome challenges magnocellular theories explaining human neurodevelopmental visual cortical disorders. J Clin Invest (2007) 0.84
Neurobiology of social behavior abnormalities in autism and Williams syndrome. Nat Neurosci (2016) 0.81
Transcriptome profile in Williams-Beuren syndrome lymphoblast cells reveals gene pathways implicated in glucose intolerance and visuospatial construction deficits. Hum Genet (2010) 0.80
Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned. PLoS One (2015) 0.80
Mapping genetically controlled neural circuits of social behavior and visuo-motor integration by a preliminary examination of atypical deletions with Williams syndrome. PLoS One (2014) 0.80
Recent advances in the pathogenesis of syndromic autisms. Int J Pediatr (2009) 0.79
De novo variants in sporadic cases of childhood onset schizophrenia. Eur J Hum Genet (2015) 0.78
Presence of autism, hyperserotonemia, and severe expressive language impairment in Williams-Beuren syndrome. Mol Autism (2013) 0.78
Genome rearrangements detected by SNP microarrays in individuals with intellectual disability referred with possible Williams syndrome. PLoS One (2010) 0.78
A human neurodevelopmental model for Williams syndrome. Nature (2016) 0.77
Intracisternal Gtf2i Gene Therapy Ameliorates Deficits in Cognition and Synaptic Plasticity of a Mouse Model of Williams-Beuren Syndrome. Mol Ther (2015) 0.76
Structural variants in genes associated with human Williams-Beuren syndrome underlie stereotypical hypersociability in domestic dogs. Sci Adv (2017) 0.75
The Williams syndrome prosociality gene GTF2I mediates oxytocin reactivity and social anxiety in a healthy population. Biol Lett (2017) 0.75
Genomic and Proteomic Biomarker Discovery in Neurological Disease. Biomark Insights (2008) 0.75
Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy. Int J Mol Sci (2017) 0.75
De Novo Mutations in YWHAG Cause Early-Onset Epilepsy. Am J Hum Genet (2017) 0.75
Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes. Genome Biol (2002) 82.19
Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord (1994) 42.80
The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disord (2000) 37.47
Does the autistic child have a "theory of mind"? Cognition (1985) 11.88
Severe expressive-language delay related to duplication of the Williams-Beuren locus. N Engl J Med (2005) 5.37
A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. Nat Genet (2001) 4.58
Prevalence estimation of Williams syndrome. J Child Neurol (2002) 3.84
Mutational mechanisms of Williams-Beuren syndrome deletions. Am J Hum Genet (2003) 3.76
Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes. Am J Hum Genet (2006) 3.18
Neural basis of genetically determined visuospatial construction deficit in Williams syndrome. Neuron (2004) 2.54
GTF2IRD1 in craniofacial development of humans and mice. Science (2005) 2.15
HIP1, a human homologue of S. cerevisiae Sla2p, interacts with membrane-associated huntingtin in the brain. Nat Genet (1997) 2.09
Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23. Genet Med (2003) 1.68
Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes. Am J Hum Genet (1999) 1.62
A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23. Am J Hum Genet (2000) 1.62
Bridging cognition, the brain and molecular genetics: evidence from Williams syndrome. Trends Neurosci (1999) 1.62
Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions. J Med Genet (2005) 1.48
Altered hippocampal transcript profile accompanies an age-related spatial memory deficit in mice. Learn Mem (2004) 1.43
Pragmatic language impairment and social deficits in Williams syndrome: a comparison with Down's syndrome and specific language impairment. Int J Lang Commun Disord (2003) 1.40
Behavioral and emotional disturbance in individuals with Williams syndrome. Am J Ment Retard (1997) 1.34
Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome. J Med Genet (2003) 1.31
Functional, structural, and metabolic abnormalities of the hippocampal formation in Williams syndrome. J Clin Invest (2005) 1.30
Unusual cognitive and behavioural profile in a Williams syndrome patient with atypical 7q11.23 deletion. J Med Genet (2003) 1.26
Language and Williams syndrome: how intact is "intact"? Child Dev (1997) 1.23
Disruption of the endocytic protein HIP1 results in neurological deficits and decreased AMPA receptor trafficking. EMBO J (2003) 1.19
Perceiving facial and vocal expressions of emotion in individuals with Williams syndrome. Am J Ment Retard (2006) 1.13
Aberrant expression of signaling-related proteins 14-3-3 gamma and RACK1 in fetal Down syndrome brain (trisomy 21). Electrophoresis (2002) 1.04
Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23. Genome Res (2005) 1.00
Multiple object tracking in people with Williams syndrome and in normally developing children. Psychol Sci (2005) 0.99
Williams syndrome: 15 years of psychological research. Dev Neuropsychol (2003) 0.98
A genetic study of autism in Costa Rica: multiple variables affecting IQ scores observed in a preliminary sample of autistic cases. BMC Psychiatry (2005) 0.98
Cognitive heterogeneity in Williams syndrome. Dev Neuropsychol (2005) 0.90
Regulation of the proapoptotic activity of huntingtin interacting protein 1 by Dyrk1 and caspase-3 in hippocampal neuroprogenitor cells. J Neurosci Res (2005) 0.88
Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. PLoS Genet (2011) 5.01
NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21. Nature (2006) 4.80
Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome. Nature (2010) 4.38
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. Nat Genet (2011) 3.97
Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder. Am J Hum Genet (2003) 3.02
Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases. Hum Mutat (2010) 2.29
SnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in mice. PLoS One (2008) 2.27
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Hum Mutat (2008) 2.04
Mutation in BAG3 causes severe dominant childhood muscular dystrophy. Ann Neurol (2009) 2.03
Warfarin pharmacogenetics: CYP2C9 and VKORC1 genotypes predict different sensitivity and resistance frequencies in the Ashkenazi and Sephardi Jewish populations. Am J Hum Genet (2008) 1.99
A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci. Nat Genet (2013) 1.85
Mutation in Rpa1 results in defective DNA double-strand break repair, chromosomal instability and cancer in mice. Nat Genet (2005) 1.84
Control of bone formation by the serpentine receptor Frizzled-9. J Cell Biol (2011) 1.77
TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders. Am J Med Genet (2002) 1.69
Genome-wide analysis points to roles for extracellular matrix remodeling, the visual cycle, and neuronal development in myopia. PLoS Genet (2013) 1.68
Cardiovascular manifestations in men and women carrying a FBN1 mutation. Eur Heart J (2010) 1.68
Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations. Pediatrics (2009) 1.67
Efficient replication of over 180 genetic associations with self-reported medical data. PLoS One (2011) 1.65
Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II. Mol Genet Metab (2007) 1.64
Evidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome. Am J Hum Genet (2002) 1.57
Widespread changes in dendritic and axonal morphology in Mecp2-mutant mouse models of Rett syndrome: evidence for disruption of neuronal networks. J Comp Neurol (2009) 1.57
The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects. Mol Genet Metab (2013) 1.57
Gene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutations. BMC Med Genet (2002) 1.53
Premarital and prenatal screening for cystic fibrosis: experience in the Ashkenazi Jewish population. Genet Med (2004) 1.52
Novel associations for hypothyroidism include known autoimmune risk loci. PLoS One (2012) 1.50
Cerebellar gene expression profiles of mouse models for Rett syndrome reveal novel MeCP2 targets. BMC Med Genet (2007) 1.49
Comparison of family history and SNPs for predicting risk of complex disease. PLoS Genet (2012) 1.47
SKY reveals a high frequency of unbalanced translocations involving chromosome 6 in t(12;21)-positive acute lymphoblastic leukemia. Leuk Res (2007) 1.46
Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome. BMC Med Genet (2005) 1.45
High dose genistein aglycone therapy is safe in patients with mucopolysaccharidoses involving the central nervous system. Mol Genet Metab (2013) 1.45
A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. Am J Hum Genet (2004) 1.38
Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes. Am J Hum Genet (2002) 1.38
Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations. Am J Med Genet A (2007) 1.37
Haploinsufficiency of Gtf2i, a gene deleted in Williams Syndrome, leads to increases in social interactions. Autism Res (2010) 1.35
Induced chromosome deletions cause hypersociability and other features of Williams-Beuren syndrome in mice. EMBO Mol Med (2009) 1.30
Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation. Am J Hum Genet (2005) 1.29
Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization. Genet Med (2010) 1.27
Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study. J Pediatr (2009) 1.27
Analytical validation of whole exome and whole genome sequencing for clinical applications. BMC Med Genomics (2014) 1.27
Comparative study of brain morphology in Mecp2 mutant mouse models of Rett syndrome. J Comp Neurol (2008) 1.26
Genetic variants associated with breast size also influence breast cancer risk. BMC Med Genet (2012) 1.26
Type 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes. Arch Intern Med (2010) 1.25
Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes. Hum Mol Genet (2011) 1.23
Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features. Am J Med Genet A (2007) 1.23
Lack of Pwcr1/MBII-85 snoRNA is critical for neonatal lethality in Prader-Willi syndrome mouse models. Mamm Genome (2005) 1.22
Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder. Acta Paediatr (2013) 1.22
Identification of cis-regulatory elements for MECP2 expression. Hum Mol Genet (2006) 1.18
Frizzled 9 knock-out mice have abnormal B-cell development. Blood (2004) 1.16
Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplications and identification of a novel microduplication in ASMT. BMC Med Genomics (2008) 1.15
Dual-color, break-apart FISH assay on paraffin-embedded tissues as an adjunct to diagnosis of Xp11 translocation renal cell carcinoma and alveolar soft part sarcoma. Am J Surg Pathol (2010) 1.15
Spontaneous spinal cerebrospinal fluid leaks and minor skeletal features of Marfan syndrome: a microfibrillopathy. J Neurosurg (2002) 1.13
DLX5 and DLX6 expression is biallelic and not modulated by MeCP2 deficiency. Am J Hum Genet (2007) 1.13
Effect of copy number variants on outcomes for infants with single ventricle heart defects. Circ Cardiovasc Genet (2013) 1.11
Amniotic fluid cells are more efficiently reprogrammed to pluripotency than adult cells. Cell Reprogram (2010) 1.08
Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year. Pediatr Res (2011) 1.04
Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): under-recognized and challenging to diagnose. Skeletal Radiol (2014) 1.03
A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region. Mol Autism (2010) 1.03
Genetic studies of neuropsychiatric disorders in Costa Rica: a model for the use of isolated populations. Psychiatr Genet (2004) 1.01
Immature leukemic CD34+CXCR4+ cells from CML patients have lower integrin-dependent migration and adhesion in response to the chemokine SDF-1. Stem Cells (2002) 1.00
Ube3a expression is not altered in Mecp2 mutant mice. Hum Mol Genet (2006) 1.00
Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey. Genet Med (2010) 0.99
A functional SNP in the promoter region of TCOF1 is associated with reduced gene expression and YY1 DNA-protein interaction. Gene (2005) 0.99
Familial dysautonomia: detection of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi Jews. Am J Med Genet (2002) 0.98
A genetic study of autism in Costa Rica: multiple variables affecting IQ scores observed in a preliminary sample of autistic cases. BMC Psychiatry (2005) 0.98
Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in Hurler syndrome. Genet Med (2005) 0.97
Phenotypic heterogeneity in a family with a small atypical microduplication of chromosome 22q11.2 involving TBX1. Eur J Med Genet (2012) 0.96
CYP2C9, CYP2C19 and CYP2D6 allele frequencies in the Ashkenazi Jewish population. Pharmacogenomics (2007) 0.95
Skeletogenic phenotype of human Marfan embryonic stem cells faithfully phenocopied by patient-specific induced-pluripotent stem cells. Proc Natl Acad Sci U S A (2011) 0.94
Successful management of difficult infusion-associated reactions in a young patient with mucopolysaccharidosis type VI receiving recombinant human arylsulfatase B (galsulfase [Naglazyme]). Pediatrics (2008) 0.93
Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria. Am J Med Genet A (2008) 0.93
Induced chromosome deletion in a Williams-Beuren syndrome mouse model causes cardiovascular abnormalities. J Vasc Res (2010) 0.93
Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) gene. Am J Med Genet A (2006) 0.93
A Marfan syndrome gene expression phenotype in cultured skin fibroblasts. BMC Genomics (2007) 0.92
Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay. Am J Med Genet A (2008) 0.91
Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent. J Mol Diagn (2009) 0.89
A quantitative regional expression profile of EAAT2 known and novel splice variants reopens the question of aberrant EAAT2 splicing in disease. Neurochem Int (2006) 0.88
Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age. JIMD Rep (2014) 0.88
Cis lethal genetic interactions attenuate and alter p53 tumorigenesis. Proc Natl Acad Sci U S A (2010) 0.88
Reduction of NADPH-oxidase activity ameliorates the cardiovascular phenotype in a mouse model of Williams-Beuren Syndrome. PLoS Genet (2012) 0.88
Impact of complex NOTCH1 mutations on survival in paediatric T-cell leukaemia. BMC Cancer (2012) 0.87
Survey of health status and complications among propionic acidemia patients. Am J Med Genet A (2012) 0.87
Complex autism spectrum disorder in a patient with a 17q12 microduplication. Am J Med Genet A (2012) 0.87
Neonatal maternal deprivation response and developmental changes in gene expression revealed by hypothalamic gene expression profiling in mice. PLoS One (2010) 0.87
Growth in children with congenital heart disease. Pediatrics (2012) 0.87
Psychiatric symptoms in adults with phenylketonuria. Mol Genet Metab (2012) 0.86
Developmental expression profile of quaking, a candidate gene for schizophrenia, and its target genes in human prefrontal cortex and hippocampus shows regional specificity. J Neurosci Res (2008) 0.86