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  • Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel
  • Clustering of comorbid conditions among women who carry an FMR1 premutation
  • ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
  • Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations
  • The emerging phenotype of long-term survivors with infantile Pompe disease
  • ACMG clinical laboratory standards for next-generation sequencing
  • Characteristics associated with genetic counseling referral and BRCA1/2 testing among women in a large integrated health system
  • Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway
  • Evaluation of a decision aid for families considering p53 genetic counseling and testing
  • Impact of presymptomatic genetic testing for familial amyotrophic lateral sclerosis