RICHARD GIBBS to Genes, Dominant
This is a "connection" page, showing publications RICHARD GIBBS has written about Genes, Dominant.
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Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases. Hum Mutat. 2020 12; 41(12):2094-2104.
Score: 0.169
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Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel. Cancer Genet. 2011 Jan; 204(1):19-25.
Score: 0.086
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Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. Am J Med Genet A. 2021 12; 185(12):3593-3600.
Score: 0.042
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WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. Am J Hum Genet. 2018 01 04; 102(1):27-43.
Score: 0.035
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De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. Am J Hum Genet. 2015 Dec 03; 97(6):904-13.
Score: 0.030
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Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med. 2013 Oct 17; 369(16):1502-11.
Score: 0.026
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A recurrent PDGFRB mutation causes familial infantile myofibromatosis. Am J Hum Genet. 2013 Jun 06; 92(6):996-1000.
Score: 0.025
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WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta. N Engl J Med. 2013 May 09; 368(19):1809-16.
Score: 0.025