Carrier screening by next-generation sequencing: health benefits and cost effectiveness

Carrier Screening of 48,761 Patients in the IVF Setting Utilizing Next Generation DNA Sequencing Detects Common, Rare and Otherwise Undetectable Pathogenic Variants in Prevalent, Society-Recommended Diseases

(2015) Jocelyn Davie et al.   FERTILITY AND STERILITY

Analyzing the most frequent disease loci in targeted patient categories optimizes disease gene identification and test accuracy worldwide

(2015) Roger V Lebo et al.   Journal of Translational Medicine

A rigorous approach for selection of optimal variant sets for carrier screening with demonstration of clinical utility

(2015) Cynthia Perreault-Micale et al.   Molecular Genetics & Genomic Medicine

Validation for Clinical Use of, and Initial Clinical Experience with, a Novel Approach to Population-Based Carrier Screening using High-Throughput, Next-Generation DNA Sequencing

(2014) Stephanie Hallam et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Truncating Variants in the Majority of the Cytoplasmic Domain of PCDH15 Are Unlikely to Cause Usher Syndrome 1F

(2014) Cynthia Perreault-Micale et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Questionnaire to Assess Relevance and Credibility of Modeling Studies for Informing Health Care Decision Making: An ISPOR-AMCP-NPC Good Practice Task Force Report

(2014) J. Jaime Caro et al.   VALUE IN HEALTH

Next-generation carrier screening

(2013) Mark A. Umbarger et al.   GENETICS IN MEDICINE

ACMG position statement on prenatal/preconception expanded carrier screening

(2013) Wayne W. Grody et al.   GENETICS IN MEDICINE

Clinical utility and cost of non-invasive prenatal testing with cfDNA analysis in high-risk women based on a US population

(2013) Ken Song et al.   Journal of Maternal-Fetal & Neonatal Medicine

Non-invasive prenatal testing for aneuploidy: current status and future prospects

(2013) P. Benn et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Model Parameter Estimation and Uncertainty Analysis

(2012) Andrew H. Briggs et al.   MEDICAL DECISION MAKING

Committee Opinion No. 486: Update on Carrier Screening for Cystic Fibrosis

(2011)   OBSTETRICS AND GYNECOLOGY

Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing

(2011) C. J. Bell et al.   Science Translational Medicine

Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases

(2010) Stuart A. Scott et al.   HUMAN MUTATION

Improving Accuracy of Tay Sachs Carrier Screening of the Non-Jewish Population: Analysis of 34 Carriers and Six Late-Onset Patients With HEXA Enzyme and DNA Sequence Analysis

(2010) Noh Jin Park et al.   PEDIATRIC RESEARCH

ACOG Committee Opinion No. 442: Preconception and Prenatal Carrier Screening for Genetic Diseases in Individuals of Eastern European Jewish Descent

(2009)   OBSTETRICS AND GYNECOLOGY

Carrier screening in individuals of Ashkenazi Jewish descent

(2008) Susan J Gross et al.   GENETICS IN MEDICINE

Economic evaluation of cystic fibrosis screening: A review of the literature

(2007) Muralikrishnan Radhakrishnan et al.   HEALTH POLICY