Published in Genet Med on September 01, 2011
Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med (2012) 4.97
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A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features. J Med Genet (2011) 1.00
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Craniofacial dysmorphology in 22q11.2 deletion syndrome by 3D laser surface imaging and geometric morphometrics: illuminating the developmental relationship to risk for psychosis. Am J Med Genet A (2015) 0.87
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Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID). BMC Med Genet (2014) 0.84
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Genetic testing and genetic counseling among Medicaid-enrolled children with autism spectrum disorder in 2001 and 2007. Hum Genet (2013) 0.80
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A novel mutation in EED associated with overgrowth. J Hum Genet (2015) 0.79
Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy. PLoS One (2014) 0.78
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Duplication of the NPHP1 gene in patients with autism spectrum disorder and normal intellectual ability: a case series. Ann Gen Psychiatry (2014) 0.77
The dwarf phenotype in GH240B mice, haploinsufficient for the autism candidate gene Neurobeachin, is caused by ectopic expression of recombinant human growth hormone. PLoS One (2014) 0.77
The prevalence of chromosomal deletions relating to developmental delay and/or intellectual disability in human euploid blastocysts. PLoS One (2014) 0.76
Reproductive Health Issues for Adults with a Common Genomic Disorder: 22q11.2 Deletion Syndrome. J Genet Couns (2015) 0.76
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Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes. Mol Cytogenet (2014) 0.76
Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay. Sci Rep (2016) 0.76
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of counseling challenge. Pediatr Res (2016) 0.75
Rare intronic variants of TCF7L2 arising by selective sweeps in an indigenous population from Mexico. BMC Genet (2016) 0.75
Complex phenotype with social communication disorder caused by mosaic supernumerary ring chromosome 19p. BMC Med Genet (2014) 0.75
Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome. J Appl Genet (2016) 0.75
Role of a circadian-relevant gene NR1D1 in brain development: possible involvement in the pathophysiology of autism spectrum disorders. Sci Rep (2017) 0.75
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The Psychological Impact of Prenatal Diagnosis and Disclosure of Susceptibility Loci: First Impressions of Parents' Experiences. J Genet Couns (2016) 0.75
Lymphovascular invasion and histologic grade are associated with specific genomic profiles in invasive carcinomas of the breast. Tumour Biol (2014) 0.75
22q11.2 microduplication syndrome with associated esophageal atresia/tracheo-esophageal fistula and vascular ring. Clin Case Rep (2017) 0.75
Testicular sex cord-stromal tumor in a boy with 2q37 deletion syndrome. BMC Med Genomics (2014) 0.75
The Psychological Challenges of Replacing Conventional Karyotyping with Genomic SNP Array Analysis in Prenatal Testing. J Clin Med (2014) 0.75
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
Unraveling the genetic architecture of copy number variants associated with schizophrenia and other neuropsychiatric disorders. J Neurosci Res (2016) 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
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