Published in Nat Genet on August 19, 2007
Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet (2008) 15.51
Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet (2009) 6.79
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet (2010) 6.62
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. J Med Genet (2008) 3.35
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet (2009) 3.33
Duplication hotspots, rare genomic disorders, and common disease. Curr Opin Genet Dev (2009) 2.96
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication. Mol Cytogenet (2008) 2.59
A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk. Nat Genet (2010) 2.57
Identification of de novo copy number variants associated with human disorders of sexual development. PLoS One (2010) 2.14
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. J Med Genet (2009) 2.13
Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. Pediatrics (2008) 2.00
Novel microdeletion syndromes detected by chromosome microarrays. Hum Genet (2008) 1.90
DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders. Hum Mol Genet (2012) 1.50
MAP'ing CNS development and cognition: an ERKsome process. Neuron (2009) 1.49
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. Eur J Hum Genet (2009) 1.39
From microscopes to microarrays: dissecting recurrent chromosomal rearrangements. Nat Rev Genet (2007) 1.37
Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration. BMC Med Genet (2008) 1.28
2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features? J Med Genet (2008) 1.25
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
Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH. Mol Cytogenet (2010) 1.16
Molecular cytogenetics and cytogenomics of brain diseases. Curr Genomics (2008) 1.12
High-throughput discovery of novel developmental phenotypes. Nature (2016) 1.10
Of mice and men: molecular genetics of congenital heart disease. Cell Mol Life Sci (2013) 1.10
Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability. J Appl Genet (2013) 1.06
Phenotypic manifestations of copy number variation in chromosome 16p13.11. Eur J Hum Genet (2010) 1.06
Infantile convulsions with paroxysmal dyskinesia (ICCA syndrome) and copy number variation at human chromosome 16p11. PLoS One (2010) 1.04
Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes. Eur J Hum Genet (2012) 1.03
Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders. Eur J Hum Genet (2012) 1.03
The evolution of human segmental duplications and the core duplicon hypothesis. Cold Spring Harb Symp Quant Biol (2009) 1.01
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Hum Mutat (2011) 1.01
The phenotype of recurrent 10q22q23 deletions and duplications. Eur J Hum Genet (2011) 1.01
The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking. Clin Lipidol (2012) 0.96
Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities. Am J Hum Genet (2010) 0.95
Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother. Eur J Hum Genet (2012) 0.94
Balanced translocations in mental retardation. Hum Genet (2009) 0.94
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
Massive screening of copy number population-scale variation in Bos taurus genome. BMC Genomics (2013) 0.90
Genome-wide copy number analysis uncovers a new HSCR gene: NRG3. PLoS Genet (2012) 0.90
Recurrent Transmission of a 17q12 Microdeletion and a Variable Clinical Spectrum. Mol Syndromol (2011) 0.85
Benign infantile convulsions (IC) and subsequent paroxysmal kinesigenic dyskinesia (PKD) in a patient with 16p11.2 microdeletion syndrome. Neurogenetics (2013) 0.84
Copy number variation analysis implicates the cell polarity gene glypican 5 as a human spina bifida candidate gene. Hum Mol Genet (2012) 0.84
Context-based FISH localization of genomic rearrangements within chromosome 15q11.2q13 duplicons. Mol Cytogenet (2011) 0.82
A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms. Mol Cytogenet (2015) 0.82
Recent advances in the pathogenesis of syndromic autisms. Int J Pediatr (2009) 0.79
16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2. Eur J Hum Genet (2012) 0.79
Prevalence of selected genomic deletions and duplications in a French-Canadian population-based sample of newborns. Mol Genet Genomic Med (2013) 0.79
Genome-wide signatures of 'rearrangement hotspots' within segmental duplications in humans. PLoS One (2011) 0.78
Genome rearrangements detected by SNP microarrays in individuals with intellectual disability referred with possible Williams syndrome. PLoS One (2010) 0.78
Heterogeneous lengths of copy number mutations in human coagulopathy revealed by genome-wide high-density SNP array. Haematologica (2011) 0.77
An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3. Eur J Hum Genet (2013) 0.77
Developmental neurogenetics and multimodal neuroimaging of sex differences in autism. Brain Imaging Behav (2016) 0.77
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes. Mol Psychiatry (2016) 0.77
Genomic Variation: Lessons Learned from Whole-Genome CNV Analysis. Curr Genet Med Rep (2014) 0.76
Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders. PLoS One (2014) 0.76
Disorders caused by chromosome abnormalities. Appl Clin Genet (2010) 0.76
New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants. Ital J Pediatr (2016) 0.75
Custom Array Comparative Genomic Hybridization: the Importance of DNA Quality, an Expert Eye, and Variant Validation. Int J Mol Sci (2017) 0.75
CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdens. Sci Rep (2016) 0.75
Genome-wide copy number variation (CNV) detection in Nelore cattle reveals highly frequent variants in genome regions harboring QTLs affecting production traits. BMC Genomics (2016) 0.75
Chromosome Conformation Capture Carbon Copy (5C): a massively parallel solution for mapping interactions between genomic elements. Genome Res (2006) 13.32
Multiple-laboratory comparison of microarray platforms. Nat Methods (2005) 11.74
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet (2006) 10.36
Large-scale genotyping of complex DNA. Nat Biotechnol (2003) 10.00
A copy number variation morbidity map of developmental delay. Nat Genet (2011) 9.58
A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med (2011) 8.26
Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH. Genes Chromosomes Cancer (2005) 7.53
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet (2010) 6.62
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet (2002) 6.29
Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet (2009) 6.13
Comparative isoschizomer profiling of cytosine methylation: the HELP assay. Genome Res (2006) 5.99
Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med (2012) 4.97
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet (2012) 4.51
Phenotypic heterogeneity of genomic disorders and rare copy-number variants. N Engl J Med (2012) 4.36
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Res (2009) 4.32
Acquired copy number alterations in adult acute myeloid leukemia genomes. Proc Natl Acad Sci U S A (2009) 4.17
Copy number variation at 1q21.1 associated with neuroblastoma. Nature (2009) 4.10
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum Mol Genet (2010) 3.64
Characterization of a recurrent 15q24 microdeletion syndrome. Hum Mol Genet (2007) 3.54
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am J Hum Genet (2009) 3.42
Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet (2007) 3.26
A high-resolution map of segmental DNA copy number variation in the mouse genome. PLoS Genet (2006) 3.24
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell (2012) 3.21
Human chromosome 7: DNA sequence and biology. Science (2003) 3.02
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet (2004) 2.94
Estimates of penetrance for recurrent pathogenic copy-number variations. Genet Med (2012) 2.86
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. Am J Hum Genet (2011) 2.85
An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study. Am J Med Genet A (2005) 2.74
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. JAMA (2009) 2.72
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. Am J Med Genet A (2012) 2.70
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. Am J Hum Genet (2010) 2.70
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. Am J Hum Genet (2008) 2.68
Duplication of 7q34 in pediatric low-grade astrocytomas detected by high-density single-nucleotide polymorphism-based genotype arrays results in a novel BRAF fusion gene. Brain Pathol (2008) 2.61
Genome architecture catalyzes nonrecurrent chromosomal rearrangements. Am J Hum Genet (2003) 2.59
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication. Mol Cytogenet (2008) 2.59
A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk. Nat Genet (2010) 2.57
Elements of morphology: standard terminology for the periorbital region. Am J Med Genet A (2009) 2.53
Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome. Eur J Hum Genet (2010) 2.52
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. Nat Genet (2007) 2.51
Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol. Am J Med Genet (2002) 2.50
High-resolution human genome structure by single-molecule analysis. Proc Natl Acad Sci U S A (2010) 2.47
Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more? Am J Med Genet A (2005) 2.44
Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication. Cell (2012) 2.43
Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. J Pediatr (2006) 2.41
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet (2005) 2.40
Surgical airway management in Pierre Robin sequence: is there a role for tongue-lip adhesion? Cleft Palate Craniofac J (2003) 2.37
The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies. Proc Natl Acad Sci U S A (2009) 2.36
Three microarray platforms: an analysis of their concordance in profiling gene expression. BMC Genomics (2005) 2.29
Apolipoprotein E genotype and neurodevelopmental sequelae of infant cardiac surgery. J Thorac Cardiovasc Surg (2003) 2.25
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet (2005) 2.22
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain (2010) 2.15
Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome. Am J Psychiatry (2014) 2.15
Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet (2003) 2.15
A mechanism for gene-environment interaction in the etiology of congenital scoliosis. Cell (2012) 2.08
Efficient high-resolution deletion discovery in Caenorhabditis elegans by array comparative genomic hybridization. Genome Res (2007) 2.06
Microduplication and triplication of 22q11.2: a highly variable syndrome. Am J Hum Genet (2005) 2.05
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nat Genet (2005) 1.98
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol (2014) 1.95
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. Am J Med Genet A (2006) 1.94
Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet J Rare Dis (2006) 1.93
Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. Genome Res (2002) 1.91
The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future. Am J Med Genet C Semin Med Genet (2007) 1.91
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. Am J Hum Genet (2002) 1.88
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. Hum Mutat (2009) 1.88
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat (2010) 1.88
Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females. Am J Hum Genet (2002) 1.88
Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome. J Autism Dev Disord (2005) 1.87
Noninvasive prenatal diagnosis of a fetal microdeletion syndrome. N Engl J Med (2011) 1.85
The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome. Genet Med (2007) 1.84
Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. J Natl Cancer Inst (2003) 1.83
Detection of low-level mosaicism by array CGH in routine diagnostic specimens. Am J Med Genet A (2006) 1.83