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Times Cited: 8
Times Cited: 8
Times Cited
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Similarity
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
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Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia.
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Further evidence of POP1 mutations as the cause of anauxetic dysplasia.
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Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.
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Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.
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Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis.
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Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations.
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Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation.
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ACAN Gene Mutations in Short Children Born SGA and Response to Growth Hormone Treatment.
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Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature.
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A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans.
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SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer.
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A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis.
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A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan.
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Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma.
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The replication-independent histone H3-H4 chaperones HIR, ASF1, and RTT106 co-operate to maintain promoter fidelity.
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Giant cell tumor of bone arising in long bones possibly originates from the metaphyseal region.
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Chromatin- and transcription-related factors repress transcription from within coding regions throughout the Saccharomyces cerevisiae genome.
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Sp100A promotes chromatin decondensation at a cytomegalovirus-promoter-regulated transcription site.
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Histone H3K36 mutations promote sarcomagenesis through altered histone methylation landscape.
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Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.