Published in J Med Genet on July 13, 2006
Strong association of de novo copy number mutations with autism. Science (2007) 27.84
Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet (2008) 15.51
Advances in autism genetics: on the threshold of a new neurobiology. Nat Rev Genet (2008) 12.18
Identifying autism loci and genes by tracing recent shared ancestry. Science (2008) 7.72
Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. Am J Hum Genet (2008) 7.13
Contribution of SHANK3 mutations to autism spectrum disorder. Am J Hum Genet (2007) 5.04
Disruption of neurexin 1 associated with autism spectrum disorder. Am J Hum Genet (2008) 5.04
A unified genetic theory for sporadic and inherited autism. Proc Natl Acad Sci U S A (2007) 3.47
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet (2009) 3.42
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet (2009) 3.33
Clinical genetic testing for patients with autism spectrum disorders. Pediatrics (2010) 2.87
Advances in autism. Annu Rev Med (2009) 2.75
Autism: many genes, common pathways? Cell (2008) 2.63
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. Biol Psychiatry (2008) 2.60
Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses. Genet Med (2008) 2.36
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. J Med Genet (2009) 2.13
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders. Genet Med (2008) 2.04
The functional impact of structural variation in humans. Trends Genet (2008) 2.03
New perspectives for the elucidation of genetic disorders. Am J Hum Genet (2007) 1.89
Autism, language delay and mental retardation in a patient with 7q11 duplication. J Med Genet (2007) 1.86
A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. Proc Natl Acad Sci U S A (2012) 1.85
Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases. Prenat Diagn (2009) 1.78
Deletion 22q13.3 syndrome. Orphanet J Rare Dis (2008) 1.77
Autism genetics: searching for specificity and convergence. Genome Biol (2012) 1.70
Social demographic change and autism. Demography (2010) 1.62
Gene hunting in autism spectrum disorder: on the path to precision medicine. Lancet Neurol (2015) 1.62
Accuracy of phenotyping of autistic children based on Internet implemented parent report. Am J Med Genet B Neuropsychiatr Genet (2010) 1.51
22q13.3 deletion syndrome: clinical and molecular analysis using array CGH. Am J Med Genet A (2010) 1.49
Astrocytes Assemble Thalamocortical Synapses by Bridging NRX1α and NL1 via Hevin. Cell (2016) 1.48
Risk factors for autism: translating genomic discoveries into diagnostics. Hum Genet (2011) 1.46
Multiple rare variants in the etiology of autism spectrum disorders. Dialogues Clin Neurosci (2009) 1.39
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. Eur J Hum Genet (2012) 1.36
A discovery resource of rare copy number variations in individuals with autism spectrum disorder. G3 (Bethesda) (2012) 1.30
Unexplained autism is frequently associated with low-level mosaic aneuploidy. J Med Genet (2007) 1.29
Association and mutation analyses of 16p11.2 autism candidate genes. PLoS One (2009) 1.27
Current developments in the genetics of autism: from phenome to genome. J Neuropathol Exp Neurol (2008) 1.26
Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder. Hum Mol Genet (2009) 1.24
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE. Hum Mol Genet (2011) 1.22
Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties. Eur J Hum Genet (2008) 1.22
Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism. Neurogenetics (2011) 1.21
Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist. J Med Genet (2008) 1.20
Genetics of autistic disorders: review and clinical implications. Eur Child Adolesc Psychiatry (2009) 1.19
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
Autism risk factors: genes, environment, and gene-environment interactions. Dialogues Clin Neurosci (2012) 1.13
The utility of chromosomal microarray analysis in developmental and behavioral pediatrics. Child Dev (2013) 1.12
Characteristics and predictive value of blood transcriptome signature in males with autism spectrum disorders. PLoS One (2012) 1.09
Genetics and genomics of psychiatric disease. Science (2015) 1.08
Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk. PLoS One (2011) 1.06
Gene × Environment interactions in autism spectrum disorders: role of epigenetic mechanisms. Front Psychiatry (2014) 1.05
Identification of rare recurrent copy number variants in high-risk autism families and their prevalence in a large ASD population. PLoS One (2013) 1.03
Physical manifestations of neurodevelopmental disruption: are minor physical anomalies part of the syndrome of schizophrenia? Schizophr Bull (2008) 1.02
Association of GTF2i in the Williams-Beuren syndrome critical region with autism spectrum disorders. J Autism Dev Disord (2012) 1.01
Loss of Wdfy3 in mice alters cerebral cortical neurogenesis reflecting aspects of the autism pathology. Nat Commun (2014) 0.97
Enriched rearing improves behavioral responses of an animal model for CNV-based autistic-like traits. Hum Mol Genet (2012) 0.97
Diagnostic yield of chromosomal microarray analysis in an autism primary care practice: which guidelines to implement? J Autism Dev Disord (2012) 0.97
Links between genetics and pathophysiology in the autism spectrum disorders. EMBO Mol Med (2011) 0.95
The role of rare structural variants in the genetics of autism spectrum disorders. Cytogenet Genome Res (2009) 0.93
Towards identification of individual etiologies by resolving genomic and biological conundrums in patients with autism spectrum disorders. Mol Syndromol (2013) 0.91
Functional annotation of genes overlapping copy number variants in autistic patients: focus on axon pathfinding. Curr Genomics (2010) 0.90
Autism spectrum disorder and epilepsy: Disorders with a shared biology. Epilepsy Behav (2015) 0.88
Novel copy number variants in children with autism and additional developmental anomalies. J Neurodev Disord (2009) 0.88
Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders. Eur J Hum Genet (2012) 0.88
Cognition and hippocampal plasticity in the mouse is altered by monosomy of a genomic region implicated in Down syndrome. Genetics (2014) 0.87
Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders. Mol Cytogenet (2012) 0.87
Deep exon resequencing of DLGAP2 as a candidate gene of autism spectrum disorders. Mol Autism (2013) 0.87
Co-expression profiling of autism genes in the mouse brain. PLoS Comput Biol (2013) 0.87
Astrocytes refine cortical connectivity at dendritic spines. Elife (2014) 0.84
Autism: Family connections. Nature (2008) 0.81
Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population. Mol Autism (2014) 0.81
2p15-p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders. Eur J Hum Genet (2011) 0.80
Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short stature. Am J Med Genet A (2011) 0.79
Detection and correction of artefacts in estimation of rare copy number variants and analysis of rare deletions in type 1 diabetes. Hum Mol Genet (2014) 0.78
Autism, language delay and mental retardation in a patient with 7q11 duplication. BMJ Case Rep (2009) 0.78
The Evolving Diagnostic and Genetic Landscapes of Autism Spectrum Disorder. Front Genet (2016) 0.78
A novel 6.14 Mb duplication of chromosome 8p21 in a patient with autism and self mutilation. J Autism Dev Disord (2008) 0.78
Glutamatergic candidate genes in autism spectrum disorder: an overview. J Neural Transm (Vienna) (2014) 0.78
Allan Award lecture: Rare patients leading to epigenetics and back to genetics. Am J Hum Genet (2008) 0.78
Autism spectrum disorder, Klinefelter syndrome, and chromosome 3p21.31 duplication: a case report. MedGenMed (2007) 0.77
Candidate gene study of HOXB1 in autism spectrum disorder. Mol Autism (2010) 0.77
Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders. Int J Mol Sci (2016) 0.77
Analytical and Clinical Validity Study of FirstStepDx PLUS: A Chromosomal Microarray Optimized for Patients with Neurodevelopmental Conditions. PLoS Curr (2017) 0.77
De novo balanced translocation t (7;16) (p22.1; p11.2) associated with autistic disorder. J Biomed Biotechnol (2008) 0.77
Clinical Performance of an Ultrahigh Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders. Biomed Res Int (2016) 0.76
Pathogenesis of autism: a patchwork of genetic causes. Future Neurol (2009) 0.76
C4B null alleles are not associated with genetic polymorphisms in the adjacent gene CYP21A2 in autism. BMC Med Genet (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
Cell-type-specific neuroanatomy of cliques of autism-related genes in the mouse brain. Front Comput Neurosci (2015) 0.75
Analysis of Copy Number Variations in Patients with Autism Using Cytogenetic and MLPA Techniques: Report of 16p13.1p13.3 and 10q26.3 Duplications. Int J Mol Cell Med (2016) 0.75
Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder. PLoS One (2017) 0.75
Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms. Korean J Pediatr (2016) 0.75
Copy Number Variants in Patients with Autism and Additional Clinical Features: Report of VIPR2 Duplication and a Novel Microduplication Syndrome. Mol Neurobiol (2016) 0.75
Detection of large-scale variation in the human genome. Nat Genet (2004) 49.18
Large-scale copy number polymorphism in the human genome. Science (2004) 34.64
High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet (1998) 21.52
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat Genet (2003) 15.31
Autism as a strongly genetic disorder: evidence from a British twin study. Psychol Med (1995) 12.70
Matrix-based comparative genomic hybridization: biochips to screen for genomic imbalances. Genes Chromosomes Cancer (1997) 8.27
Representational oligonucleotide microarray analysis: a high-resolution method to detect genome copy number variation. Genome Res (2003) 7.86
A tiling resolution DNA microarray with complete coverage of the human genome. Nat Genet (2004) 7.68
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet (2004) 6.90
Epidemiological surveys of autism and other pervasive developmental disorders: an update. J Autism Dev Disord (2003) 5.95
Genetics of autism: complex aetiology for a heterogeneous disorder. Nat Rev Genet (2001) 5.91
Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J Med Genet (2004) 5.76
Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism. Mol Psychiatry (2006) 5.63
Infantile autism: a genetic study of 21 twin pairs. J Child Psychol Psychiatry (1977) 5.55
Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet (2003) 5.43
DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones. Genes Chromosomes Cancer (2003) 4.68
A case-control family history study of autism. J Child Psychol Psychiatry (1994) 4.66
A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden. J Child Psychol Psychiatry (1989) 4.04
Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study. Hum Mol Genet (1999) 3.93
Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports. J Med Genet (2006) 3.70
The prevalence of autism. JAMA (2003) 3.57
Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum. Pediatrics (2004) 3.48
Fully automatic quantification of microarray image data. Genome Res (2002) 3.47
High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization. Am J Hum Genet (2002) 3.10
Autism and pervasive developmental disorders. J Child Psychol Psychiatry (2004) 2.96
Chromosomal disorders and autism. J Autism Dev Disord (1998) 2.62
Xp deletions associated with autism in three females. Hum Genet (1999) 2.40
Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis. J Histochem Cytochem (2005) 2.05
Cytogenetic abnormalities and fragile-X syndrome in Autism Spectrum Disorder. BMC Med Genet (2005) 1.89
Genetics of autism: overview and new directions. J Autism Dev Disord (1998) 1.81
Deletion of chromosome 2q37 and autism: a distinct subtype? J Autism Dev Disord (1999) 1.70
Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH. Am J Med Genet A (2005) 1.68
The XYY syndrome: a follow-up study on 38 boys. Genet Couns (2003) 1.55
45,X/46,XY mosaicism: report of 27 cases. Pediatrics (1999) 1.32
BAC array CGH reveals genomic aberrations in idiopathic mental retardation. Am J Med Genet A (2006) 1.30
t(12;21): a new recurrent translocation in acute lymphoblastic leukemia. Genes Chromosomes Cancer (1994) 1.21
Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers. Am J Med Genet A (2006) 1.19
Teratogenicity of sodium valproate. Expert Opin Drug Saf (2005) 1.19
47,XYY karyotypes and pervasive developmental disorders. Can J Psychiatry (1998) 1.11
Infantile autism and associated autosomal chromosome abnormalities: a register-based study and a literature survey. J Child Psychol Psychiatry (1999) 1.08
Fluorescence genotyping for screening cryptic telomeric rearrangements. Methods Mol Biol (2002) 1.00
Neuropsychiatry of 18q- syndrome. Am J Med Genet (1996) 0.92
Asperger Syndrome, obsessive-compulsive disorder, and major depression in a patient with 45,X/46,XY mosaicism. Psychopathology (2004) 0.86
Molecular cytogenetics of mouse models of breast cancer. Breast Dis (2004) 0.85
An investigation into sub-telomeric deletions of chromosome 22 and pervasive developmental disorders. Am J Med Genet B Neuropsychiatr Genet (2004) 0.85
18q- chromosomal abnormality in a phenotypically normal 2 1/2-year-old male with autism. Dev Med Child Neurol (1992) 0.85
Integration of cytogenetic landmarks into the draft sequence of the human genome. Nature (2001) 10.96
Conservation of the Caenorhabditis elegans timing gene clk-1 from yeast to human: a gene required for ubiquinone biosynthesis with potential implications for aging. Mamm Genome (1999) 9.96
Degenerate oligonucleotide-primed PCR: general amplification of target DNA by a single degenerate primer. Genomics (1992) 9.06
The DNA sequence and comparative analysis of human chromosome 20. Nature (2002) 7.40
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet (1997) 6.85
Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet (1997) 6.08
Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J Med Genet (2004) 5.76
Isolation by size of epithelial tumor cells : a new method for the immunomorphological and molecular characterization of circulatingtumor cells. Am J Pathol (2000) 5.26
Biochemical and molecular investigations in respiratory chain deficiencies. Clin Chim Acta (1994) 4.93
Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. Nat Genet (1997) 4.92
The DNA sequence and analysis of human chromosome 6. Nature (2003) 4.75
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature (2010) 4.52
Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat Genet (1997) 4.26
Hirschsprung disease, associated syndromes and genetics: a review. J Med Genet (2007) 4.13
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature (1994) 4.04
Cytotoxic T cell recognition of the influenza nucleoprotein and hemagglutinin expressed in transfected mouse L cells. Cell (1984) 3.97
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat Genet (2001) 3.86
SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet (1998) 3.82
Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature (2000) 3.61
Complete DNA sequence of yeast chromosome XI. Nature (1994) 3.51
Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. Nat Genet (1996) 3.51
Universal code equivalent of a yeast mitochondrial intron reading frame is expressed into E. coli as a specific double strand endonuclease. Cell (1986) 3.48
Mutations of the TWIST gene in the Saethre-Chotzen syndrome. Nat Genet (1997) 3.37
Mutations of the RET proto-oncogene in Hirschsprung's disease. Nature (1994) 3.33
Splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3. Cell (1991) 3.21
Occurrence of myeloproliferative disorder in patients with Noonan syndrome. J Pediatr (1997) 3.14
Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. The French Spinal Muscular Atrophy Investigators. Lancet (1990) 3.12
Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nat Genet (1995) 3.09
Cytogenetic analysis by chromosome painting using DOP-PCR amplified flow-sorted chromosomes. Genes Chromosomes Cancer (1992) 3.03
An SNP map of human chromosome 22. Nature (2000) 2.99
Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome. Lancet (1989) 2.98
Array painting reveals a high frequency of balanced translocations in breast cancer cell lines that break in cancer-relevant genes. Oncogene (2007) 2.91
Purification and characterization of the in vitro activity of I-Sce I, a novel and highly specific endonuclease encoded by a group I intron. Nucleic Acids Res (1990) 2.79
Molecular mapping of twenty-four features of Down syndrome on chromosome 21. Eur J Hum Genet (1993) 2.73
Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents. J Med Genet (2005) 2.60
Mutant WD-repeat protein in triple-A syndrome. Nat Genet (2000) 2.54
Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation. Neurology (2002) 2.53
Leber congenital amaurosis. Mol Genet Metab (1999) 2.52
Linkage and association of the glutamate receptor 6 gene with autism. Mol Psychiatry (2002) 2.51
The DNA sequence and biological annotation of human chromosome 1. Nature (2006) 2.42
19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation. J Med Genet (2009) 2.37
Hirschsprung disease, associated syndromes, and genetics: a review. J Med Genet (2001) 2.32
SHOX mutations in dyschondrosteosis (Leri-Weill syndrome). Nat Genet (1998) 2.30
Clinical and genetic heterogeneity in retinitis pigmentosa. Hum Genet (1990) 2.26
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. J Med Genet (2003) 2.26
A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Nat Genet (1995) 2.24
Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). J Med Genet (2005) 2.24
Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia. Nat Genet (1999) 2.23
Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study. Lancet (1999) 2.18
An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript. Nat Genet (1998) 2.16
Structure and organization of the human survival motor neurone (SMN) gene. Genomics (1996) 2.12
Congenital lumbosacral lipomas. Childs Nerv Syst (1997) 2.11
[Trisomy 21 and superoxide dismutase-1 (IPO-A). Tentative localization of sub-band 21Q22.1]. Exp Cell Res (1976) 2.07
Critical role of the D21S55 region on chromosome 21 in the pathogenesis of Down syndrome. Proc Natl Acad Sci U S A (1989) 2.06
Classification of human chromosome 21 gene-expression variations in Down syndrome: impact on disease phenotypes. Am J Hum Genet (2007) 2.06
The epsilon4 allele of the apolipoprotein E gene as a potential protective factor for exudative age-related macular degeneration. Am J Ophthalmol (1998) 2.04
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nat Genet (1996) 2.01
Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis. J Med Genet (2005) 2.00
Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes. Hum Mol Genet (2001) 2.00
A gene for hereditary multiple exostoses maps to chromosome 19p. Hum Mol Genet (1994) 2.00
Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency. Lancet (2000) 2.00
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. Eur J Hum Genet (1998) 1.97
X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nat Genet (1994) 1.97
Denaturing high-performance liquid chromatography (DHPLC)-based prenatal diagnosis for tuberous sclerosis. Prenat Diagn (2001) 1.95
The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes. J Med Genet (2005) 1.94
Genetic study of nonsyndromic coronal craniosynostosis. Am J Med Genet (1995) 1.88
Autism, language delay and mental retardation in a patient with 7q11 duplication. J Med Genet (2007) 1.86
Estimating the age of rare disease mutations: the example of Triple-A syndrome. J Med Genet (2004) 1.82
FGFR2 mutations in Pfeiffer syndrome. Nat Genet (1995) 1.82
A map of the human immunoglobulin VH locus completed by analysis of the telomeric region of chromosome 14q. Nat Genet (1994) 1.81
A comparative study of karyotypes of muntjacs by chromosome painting. Chromosoma (1995) 1.81
Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. J Med Genet (2005) 1.80