Long contiguous stretches of homozygosity spanning shortly the imprinted loci are associated with intellectual disability, autism and/or epilepsy

Runs of Homozygosity in European Populations

Ruth McQuillan, Anne‐Louise Leutenegger, Rehab Abdel-Rahman et al. · The American Journal of Human Genetics · 2008 · 1.4K citations · Full text

Medicine, Genetics, European Populations +3

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Anita Rauch, Dagmar Wieczorek, Elisabeth Graf et al. · The Lancet · 2012 · 1.1K citations · Full text

Genetic Mutations, Mendelian Disorder, Genetic Disorder +7

Genomic Runs of Homozygosity Record Population History and Consanguinity

Mirna Kirin, Ruth McQuillan, Christopher S. Franklin et al. · PLoS ONE · 2010 · 549 citations · Full text

Genetics, Genome-wide Association Study, Genotype-phenotype Association +16

Long Runs of Homozygosity Are Enriched for Deleterious Variation

Zachary A. Szpiech, Jishu Xu, Trevor J. Pemberton et al. · The American Journal of Human Genetics · 2013 · 347 citations · Full text

Linkage Disequilibrium, Deleterious Variation, Natural Sciences +6

Cytogenetic contribution to uniparental disomy (UPD)

Thomas Liehr · Molecular Cytogenetics · 2010 · 181 citations · Full text