ArticleGenetics in medicine : official journal of the American College of Medical Genetics2013
A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
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Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Inferred inheritance of MorbidMap genes without OMIM clinical synopsis.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Pooled it
- Comparison of Medium-Coverage Whole-Genome Sequencing and Chromosomal Microarray in Prenatal Testing of Absence of Heterozygosity.Prenatal diagnosis · 2026Article
- Whole-exome sequencing in patients with maturation arrest: a potential additional diagnostic tool for prevention of recurrent negative testicular sperm extraction outcomes.Human reproduction (Oxford, England) · 2022Article
- Azoospermia and reciprocal translocations: should whole-exome sequencing be recommended?Basic and clinical andrology · 2021Article
- Detection of Copy Number Variants by Short Multiply Aggregated Sequence Homologies.The Journal of molecular diagnostics : JMD · 2020Article
- NovelMolecular therapy. Methods & clinical development · 2020Article
- Multiple Congenital Anomalies in a Patient with Interstitial 6q26 Deletion.Molecular syndromology · 2020Article
- Isolated proteinuria due to CUBN homozygous mutation - challenging the investigative paradigm.BMC nephrology · 2019Article
- Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2.American journal of medical genetics. Part A · 2019Article
- Analytical validation and chromosomal distribution of regions of homozygosity by oligonucleotide array comparative genomic hybridization from normal prenatal and postnatal case series.Molecular cytogenetics · 2019Article
- Insights into the genotype-phenotype correlation and molecular function of SLC25A46.Human mutation · 2018Article
- Desmosterolosis presenting with multiple congenital anomalies.European journal of medical genetics · 2018Article
- Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling.Molecular cytogenetics · 2018Article
- Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice.Proceedings of the National Academy of Sciences of the United States of America · 2017Article
- Increased homozygosity in the first Hispanic patient with plantar lipomatosis, unusual facies, and developmental delay (Pierpont syndrome): a case report.Journal of medical case reports · 2016Article
- Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations.European journal of human genetics : EJHG · 2016Article
- Consanguinity as an Adjunct Diagnostic Tool.Indian journal of pediatrics · 2016Article
- Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.European journal of human genetics : EJHG · 2015Article
- The Diagnostic Utility of Single Long Contiguous Stretches of Homozygosity in Patients without Parental Consanguinity.Molecular syndromology · 2015Article
- Genomic variants and variations in malformations of cortical development.Pediatric clinics of North America · 2015Review
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThis report describes a fast online tool to accelerate and improve clinical interpretation of single nucleotide polymorphism array results for diagnostic purposes, when consanguinity or inbreeding is identified.
methodsWe developed a web-based program that permits entry of regions of homozygosity and, using OMIM, UCSC, and NCBI databases, retrieves genes within these regions as well as their associated autosomal recessive disorders. Relevant OMIM Clinical Synopses can be searched, using key clinical terms permitting further filtering for candidate genes and disorders.
resultsThe tool aids the clinician by arriving at a short list of relevant candidate disorders, guiding the continued diagnostic work-up. Its efficacy is illustrated by presenting seven patients who were diagnosed using this tool.
conclusionThe online single nucleotide polymorphism array evaluation tool rapidly and systematically identifies relevant genes and associated conditions mapping to identified regions of homozygosity. The built-in OMIM clinical feature search allows the user to further filter to reach a short list of candidate conditions relevant for the diagnosis, making it possible to strategize more focused diagnostic testing. The tabulated results can be downloaded and saved to the desktop in an Excel format. Its efficacy is illustrated by providing a few clinical examples.Genet Med 2013:15(5):354-360.
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