Genome-wide UPD screening in patients with intellectual disability.

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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

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Clinical genetic evaluation of the child with mental retardation or developmental delays. Pediatrics (2006) 1.77

UPD detection using homozygosity profiling with a SNP genotyping microarray. Am J Med Genet A (2011) 1.54

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Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study. Hum Mutat (2009) 1.30

Uniparental disomy and human disease: an overview. Am J Med Genet C Semin Med Genet (2010) 1.25

A rapid microarray based whole genome analysis for detection of uniparental disomy. Hum Mutat (2005) 1.19

Global analysis of uniparental disomy using high density genotyping arrays. J Med Genet (2005) 1.18

Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio. Hum Mutat (2007) 1.07

Paternal uniparental isodisomy of the entire chromosome 20 as a molecular cause of pseudohypoparathyroidism type Ib (PHP-Ib). Bone (2010) 1.04

Uniparental disomy analysis in trios using genome-wide SNP array and whole-genome sequencing data imply segmental uniparental isodisomy in general populations. Gene (2012) 0.90

UPDtool: a tool for detection of iso- and heterodisomy in parent-child trios using SNP microarrays. Bioinformatics (2013) 0.88

Transcriptional regulator PRDM12 is essential for human pain perception. Nat Genet (2015) 2.15

Phenotypic spectrum associated with CASK loss-of-function mutations. J Med Genet (2011) 1.11

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement. J Med Genet (2015) 0.93

SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract. Eur J Hum Genet (2015) 0.84

Characterization of the first intragenic SATB2 duplication in a girl with intellectual disability, nearly absent speech and suspected hypodontia. Eur J Hum Genet (2014) 0.77

FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum. J Med Genet (2016) 0.76

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly. Brain (2017) 0.75

Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue. Hum Mol Genet (2017) 0.75

DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome. Am J Med Genet A (2017) 0.75

Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy. Am J Med Genet A (2016) 0.75