Last Updated: Mar 31, 2016
- Highlighting the impact of cascade carrier testing in cystic fibrosis families.
Duguépéroux Ingrid et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2016 Mar
- Parents' experiences with requesting carrier testing for their unaffected children.
Vears Danya F et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Mar
- Generating a taxonomy for genetic conditions relevant to reproductive planning.
Korngiebel Diane M et al. American journal of medical genetics. Part A 2016 Mar 170(3) 565-73
- Utah Genomics Plan
Disease: Multiple Diseases; Type: Education|Program; State: Utah
- Carrier testing in children and adolescents.
Vears D F et al. European journal of medical genetics 2015 Nov
Disease: Multiple Diseases; Type: Education|Program; State: Illinois
- Genetic Program Manual for Local Health Departments (August, 2008) (Iowa)[PDF 2.45 MB]
Disease: Multiple Diseases; Type: Tools|Program; State: Illinois
- Genetic and Metabolics Clinics, Alaska Department of Health and Social Services
Disease: Multiple Diseases; Type: General Information; State: Alaska
- Public Perceptions of Recessive Carrier Testing in the Preconception and Prenatal Periods.
Shiroff Jennifer J et al. Journal of obstetric, gynecologic, and neonatal nursing : JOGNN / NAACOG 2015 Oct
- A new tier classification: [Tier 2] - Single gene disorders and chromosomal abnormalities where diagnosis and management may require use of genetic tests even without formal evidence synthesis and reviews by evidence panels
- Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.
Published on 2014 by National Society of Genetic Counselors
- "Is It Worth Knowing?" Focus Group Participants' Perceived Utility of Genomic Preconception Carrier Screening.
Schneider Jennifer L et al. J Genet Couns 2015 Jun 21.
- The Israeli national population program of genetic carrier screening for reproductive purposes.
Zlotogora Joël et al. Genet. Med. 2015 Apr 16.
- Targeted carrier screening for four recessive disorders: high detection rate within a founder population.
Mathijssen Inge B et al. Eur J Med Genet 2015 Mar (3) 123-8
- A founder mutation in the TCIRG1 gene causes osteopetrosis in the Ashkenazi Jewish population.
Anderson S L, et al. Clinical genetics 2015 7 (1) 74-9
- SMA carrier testing: a meta-analysis of differences in test performance by ethnic group.
MacDonald William Kim, et al. Prenatal diagnosis 2014 12 (12) 1219-26
- Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.
Watson Christopher M, et al. PloS one 2014 0 (8) e104281
- Cystic fibrosis carrier testing in an ethnically diverse US population.
Rohlfs Elizabeth M, et al. Clinical chemistry 2011 6 (6) 841-8
- DNA carrier testing and newborn screening for maple syrup urine disease in Old Order Mennonite communities.
Carleton Stephanie M, et al. Genetic testing and molecular biomarkers 2010 4 (2) 205-8
- Outcomes of a cystic fibrosis carrier testing clinic for couples.
Christie Louise M, et al. The Medical journal of Australia 2009 11 (9) 499-501
- High frequency of copy number variations and sequence variants at CYP21A2 locus: implication for the genetic diagnosis of 21-hydroxylase deficiency.
Parajes Silvia, et al. PloS one 2008 0 (5) e2138
- Spectrum of factor VIII mutations in Arab patients with severe haemophilia A.
Abu-Amero K K, et al. Haemophilia : the official journal of the World Federation of Hemophilia 2008 5 (3) 484-8
- Carrier frequency of autosomal-recessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated?
Fares Fuad, et al. Prenatal diagnosis 2008 3 (3) 236-41
- Incidence of the del35G/GJB2 mutation in Croatian newborns with hearing impairment.
Medica Igor, et al. Medical science monitor : international medical journal of experimental and clinical research 2005 11 (11) CR533-5
- Quantitative studies on SMN1 gene and carrier testing of spinal muscular atrophy.
Chen Wan-jin, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2005 12 (6) 559-602
- Population screening for cystic fibrosis: knowledge and emotional consequences 18 months later.
Gordon Claire, et al. American journal of medical genetics. Part A 2003 7 (2) 199-208
- The risk of fragile X premutation expansion is lower in carriers detected by general prenatal screening than in carriers from known fragile X families.
Geva E, et al. Genetic testing 2000 0 (3) 289-92
- Longitudinal study of the carrier testing process for fragile X syndrome: perceptions and coping.
McConkie-Rosell A, et al. American journal of medical genetics 2001 1 (1) 37-45
- Sib understanding of genetics and attitudes toward carrier testing for X-linked severe combined immunodeficiency.
Fanos J H, et al. American journal of medical genetics 2001 1 (1) 46-56
- Genetic counseling after implementation of statewide cystic fibrosis newborn screening: Two years' experience in one medical center.
Wheeler P G, et al. Genetics in medicine : official journal of the American College of Medical Genetics 0 0 (6) 411-5
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