Carrier testing [NEW TOPIC PAGE]

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Last Posted: May 25, 2018

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• What’s in your genome? Parents-to-be want to know  
  The Conversation, May 24, 23018
• Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.  
  Punj Sumit et al. American journal of human genetics 2018 May
• Should you get a genetic screen before having kids?  
  R Dengler, Science, May 2018
• Clinical experience with multigene carrier panels in the reproductive setting.  
  Terhaar Catherine et al. Prenatal diagnosis 2018 Apr
• FMR1 premutation frequency in a large, ethnically diverse population referred for carrier testing.  
  Owens Kailey M et al. American journal of medical genetics. Part A 2018 Mar
• The Process of Disclosure: Mothers' Experiences of Communicating X-Linked Carrier Risk Information to At-Risk Daughters.  
  Goldman Amy et al. Journal of genetic counseling 2018 Mar
• Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders.  
  Komlosi Katalin et al. Orphanet journal of rare diseases 2018 Jan 13(1) 23
• Patient perspectives on the use of categories of conditions for decision making about genomic carrier screening results.  
  Kraft Stephanie A et al. American journal of medical genetics. Part A 2017 Dec
• False-Positive Newborn Screening for Cystic Fibrosis and Health Care Use.  
  Hayeems Robin Z et al. Pediatrics 2017 Oct
• Exploring approaches to facilitate family communication of genetic risk information after cystic fibrosis population carrier screening.  
  Gorrie Anita et al. Journal of community genetics 2017 Oct
• The NextGen Study: patient motivation for participation in genome sequencing for carrier status.  
  Kauffman Tia L et al. Molecular genetics & genomic medicine 2017 Sep 5(5) 508-515
• Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies.  
  Shang Xuan et al. EBioMedicine 2017 Aug
• A comparison of two approaches to education about carrier testing for cystic fibrosis.  
  Leonard K P et al. Journal of genetic counseling 1995 Jun 4(2) 97-113
• A survey of reimbursement for cystic fibrosis carrier testing.  
  Bernhardt B A et al. Journal of genetic counseling 1993 Jun 2(2) 69-76
• Online Module for Carrier Screening in Ashkenazi Jewish Individuals Compared with In-Person Genetics Education: A Randomized Controlled Trial.  
  Fan Chia Wei et al. Journal of genetic counseling 2017 Aug
• Advantages of expanded universal carrier screening: what is at stake?  
  van der Hout Sanne et al. European journal of human genetics : EJHG 2016 Jan 25(1) 17-21
• "They Just Want to Know" - Genetic Health Professionals' Beliefs About Why Parents Want to Know their Child's Carrier Status.  
  Vears Danya F et al. Journal of genetic counseling 2017 Feb
• Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing.  
  Himes Patricia et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jan
• Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing  
  P Himes et al, Genetics in Medicine, January 12, 2017
• Knowledge of carrier status and barriers to testing among mothers of sons with Duchenne or Becker muscular dystrophy.  
  Bogue Lauren et al. Neuromuscular disorders : NMD 2016 Sep

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