Connection

VERNON SUTTON to Genetic Predisposition to Disease

This is a "connection" page, showing publications VERNON SUTTON has written about Genetic Predisposition to Disease.
  1. Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features. Am J Med Genet A. 2021 07; 185(7):2241-2249.
    View in: PubMed
    Score: 0.072
  2. Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. Am J Med Genet A. 2021 12; 185(12):3593-3600.
    View in: PubMed
    Score: 0.069
  3. Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes. Am J Med Genet A. 2020 08; 182(8):1960-1966.
    View in: PubMed
    Score: 0.067
  4. Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS). J Med Genet. 2021 01; 58(1):41-47.
    View in: PubMed
    Score: 0.067
  5. A Genocentric Approach to Discovery of Mendelian Disorders. Am J Hum Genet. 2019 11 07; 105(5):974-986.
    View in: PubMed
    Score: 0.065
  6. Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Am J Hum Genet. 2018 05 03; 102(5):985-994.
    View in: PubMed
    Score: 0.058
  7. TBX6 null variants and a common hypomorphic allele in congenital scoliosis. N Engl J Med. 2015 Jan 22; 372(4):341-50.
    View in: PubMed
    Score: 0.046
  8. Referring patients for a medical genetics consultation and genetic counseling. Adv Otorhinolaryngol. 2011; 70:25-27.
    View in: PubMed
    Score: 0.035
  9. Neurocognitive, adaptive, and psychosocial functioning in individuals with Robinow syndrome. Am J Med Genet A. 2021 12; 185(12):3576-3583.
    View in: PubMed
    Score: 0.017
  10. Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med. 2019 04; 21(4):798-812.
    View in: PubMed
    Score: 0.015
  11. Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med. 2016 07; 18(7):678-85.
    View in: PubMed
    Score: 0.012
  12. Next-generation sequencing for disorders of low and high bone mineral density. Osteoporos Int. 2013 Aug; 24(8):2253-9.
    View in: PubMed
    Score: 0.010
  13. The right to ignore genetic status of late onset genetic disease in the genomic era; Prenatal testing for Huntington disease as a paradigm. Am J Med Genet A. 2010 Jul; 152A(7):1774-80.
    View in: PubMed
    Score: 0.008
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.