Published in Eur J Hum Genet on May 22, 2013
Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases. Eur J Hum Genet (2014) 1.07
Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability. J Appl Genet (2013) 1.06
A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders. Genome Res (2013) 1.06
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. J Clin Invest (2015) 1.05
Structural variation mutagenesis of the human genome: Impact on disease and evolution. Environ Mol Mutagen (2015) 1.00
Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination. Nucleic Acids Res (2015) 0.87
Absence of heterozygosity due to template switching during replicative rearrangements. Am J Hum Genet (2015) 0.84
Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications. Eur J Hum Genet (2014) 0.83
Mosaic structural variation in children with developmental disorders. Hum Mol Genet (2015) 0.81
Human molecular cytogenetics: From cells to nucleotides. Genet Mol Biol (2014) 0.80
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet (2017) 0.80
Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability. Genet Med (2015) 0.78
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. BMC Med Genomics (2016) 0.78
Evolution of genetic techniques: past, present, and beyond. Biomed Res Int (2015) 0.77
A challenge to the striking genotypic heterogeneity of retinitis pigmentosa: a better understanding of the pathophysiology using the newest genetic strategies. Eye (Lond) (2016) 0.76
Chromosome microduplication in somatic cells decreases the genetic stability of human reprogrammed somatic cells and results in pluripotent stem cells. Sci Rep (2015) 0.76
Mechanisms for Complex Chromosomal Insertions. PLoS Genet (2016) 0.76
Clinical genomics: from a truly personal genome viewpoint. Hum Genet (2016) 0.76
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations. Am J Hum Genet (2016) 0.76
Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome. BMC Med Genet (2014) 0.76
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. Hum Genet (2017) 0.76
Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics. Genome Med (2016) 0.75
Copy number analysis of the low-copy repeats at the primate NPHP1 locus by array comparative genomic hybridization. Genom Data (2016) 0.75
A case with concurrent duplication, triplication, and uniparental isodisomy at 1q42.12-qter supporting microhomology-mediated break-induced replication model for replicative rearrangements. Mol Cytogenet (2017) 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
Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies. J Pediatr Genet (2016) 0.75
Chromosomal microarray analysis, or comparative genomic hybridization: A high throughput approach. MethodsX (2015) 0.75
Comprehensive performance comparison of high-resolution array platforms for genome-wide Copy Number Variation (CNV) analysis in humans. BMC Genomics (2017) 0.75
Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Med (2017) 0.75
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. Am J Hum Genet (2017) 0.75
Global variation in copy number in the human genome. Nature (2006) 57.50
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
Fine-scale structural variation of the human genome. Nat Genet (2005) 24.31
Origins and functional impact of copy number variation in the human genome. Nature (2009) 23.63
Functional impact of global rare copy number variation in autism spectrum disorders. Nature (2010) 14.66
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet (2010) 13.70
Mapping copy number variation by population-scale genome sequencing. Nature (2011) 12.55
Runs of homozygosity in European populations. Am J Hum Genet (2008) 5.34
Clan genomics and the complex architecture of human disease. Cell (2011) 4.53
A new genetic concept: uniparental disomy and its potential effect, isodisomy. Am J Med Genet (1980) 4.22
Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet (1988) 4.21
Copy number variations and clinical cytogenetic diagnosis of constitutional disorders. Nat Genet (2007) 4.10
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum Mol Genet (2010) 3.64
American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genet Med (2011) 3.22
Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. Curr Opin Genet Dev (2007) 3.08
Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat (2010) 2.93
Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses. Genet Med (2008) 2.36
Molecular characterization of the spectrum of genomic deletions in the mismatch repair genes MSH2, MLH1, MSH6, and PMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC). Genes Chromosomes Cancer (2005) 1.61
UPD detection using homozygosity profiling with a SNP genotyping microarray. Am J Med Genet A (2011) 1.54
Array-based DNA diagnostics: let the revolution begin. Annu Rev Med (2008) 1.54
Complex and segmental uniparental disomy updated. J Med Genet (2008) 1.43
Incidental copy-number variants identified by routine genome testing in a clinical population. Genet Med (2012) 1.33
A rapid microarray based whole genome analysis for detection of uniparental disomy. Hum Mutat (2005) 1.19
Genome-wide mapping of copy number variation in humans: comparative analysis of high resolution array platforms. PLoS One (2011) 1.18
SNP array analysis in constitutional and cancer genome diagnostics--copy number variants, genotyping and quality control. Cytogenet Genome Res (2011) 1.17
Diagnostic interpretation of array data using public databases and internet sources. Hum Mutat (2012) 1.16
Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH. Eur J Hum Genet (2010) 1.12
Clinical significance of large rearrangements in BRCA1 and BRCA2. Cancer (2012) 1.11
Copy number variation and human genome maps. Nat Genet (2010) 1.09
Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia. Genet Med (2011) 1.08
Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions. Eur J Hum Genet (2012) 1.06
Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping. J Med Genet (2011) 1.04
Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome. Hum Mutat (2009) 0.96
Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15. Clin Genet (2000) 0.96
Brain copy number variants and neuropsychiatric traits. Biol Psychiatry (2012) 0.94
An analysis of common isodisomic regions in five mUPD 16 probands. J Med Genet (1999) 0.80
De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndrome. Am J Med Genet A (2012) 0.78
The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurol (2013) 2.40
Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring. Mol Genet Metab (2013) 1.64
Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases. Eur J Hum Genet (2014) 1.07
Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27. Eur J Hum Genet (2014) 0.91
Detection of ≥1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays. Prenat Diagn (2012) 0.90
CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree. Eur J Hum Genet (2014) 0.89
Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications. Eur J Hum Genet (2014) 0.83
Clinically silent clonal cytogenetic abnormalities arising in patients treated for lymphoid neoplasms. Leuk Res (2014) 0.80
The effect of citrulline and arginine supplementation on lactic acidemia in MELAS syndrome. Meta Gene (2013) 0.78
Methionyl-tRNA Formyltransferase (MTFMT) Deficiency Mimicking Acquired Demyelinating Disease. J Child Neurol (2015) 0.78
6q22.1 microdeletion and susceptibility to pediatric epilepsy. Eur J Hum Genet (2014) 0.77
Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability. Orphanet J Rare Dis (2016) 0.75
Variable levels of tissue mosaicism can confound the interpretation of chromosomal microarray results from peripheral blood. Eur J Med Genet (2014) 0.75
Mitochondrial DNA maintenance defects. Biochim Biophys Acta (2017) 0.75
Comparison of three whole genome amplification methods for detection of genomic aberrations in single cells. Prenat Diagn (2016) 0.75