article Open AccessTop 1% cited
Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities
Journal of Medical Genetics · 2005 · Vol. 43(6) · pp. 478–489
J. Britt RavnanJ H TepperbergP PapenhausenA N LambJ Hedrick(University of Chicago)D Eash(University of Chicago)D H Ledbetter(Emory University)C L Martin✉(Institute of Human Genetics)
Abstract
This study of subtelomere rearrangements is a 20 fold increase in number over the previously reported largest study and represents an unbiased analysis of subtelomere rearrangements in a large, unselected patient population.
Congenital heart defects researchGenomic variations and chromosomal abnormalitiesPrenatal Screening and DiagnosticsSubtelomereBiologyFish <Actinopterygii>ZoologyGeneticsGeneFisheryGenome
MeSH terms
AdolescentAdultChildDevelopmental DisabilitiesChild, PreschoolChromosome AberrationsFemaleGenetic TestingHumansInfantMalePhenotypeRetrospective StudiesTelomereIn Situ Hybridization, Fluorescence
Funding
- University of Chicago
Citations
412
FWCI
12.86
field-weighted impact
References
20
Percentile
99%
vs. same field & year
Citations per year
Cited by
Identification and Evaluation of Children With Autism Spectrum Disorders
PEDIATRICS · 2007 · 2,000 citations
Structural variation in the human genome
Nature Reviews Genetics · 2006 · 2,063 citations
Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting
Brain Research · 2010 · 956 citations
Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
The American Journal of Human Genetics · 2010 · 2,855 citations
References
Segmental Duplications and Copy-Number Variation in the Human Genome
The American Journal of Human Genetics · 2005 · 975 citations
Detection of large-scale variation in the human genome
Nature Genetics · 2004 · 2,910 citations
Citation Network
How this paper connects to the literature. Drag to explore, click any node to open that paper.