Expanded carrier screening for monogenic disorders: where are we now?

Committee Opinion No. 691

(2017)   OBSTETRICS AND GYNECOLOGY

Generating a taxonomy for genetic conditions relevant to reproductive planning

(2016) Diane M. Korngiebel et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing

(2016) Michael C. Leo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Responsible implementation of expanded carrier screening

(2016) Lidewij Henneman et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A comprehensive strategy for exome-based preconception carrier screening

(2016) Suzanne C.E.H. Sallevelt et al.   GENETICS IN MEDICINE

Where to Draw the Boundaries for Prenatal Carrier Screening

(2016) Wayne W. Grody   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Designing expanded carrier screening panels: results of a qualitative study with European geneticists

(2016) Davit Chokoshvili et al.   Personalized Medicine

Expanded carrier screening: A review of early implementation and literature

(2016) Gabriel A. Lazarin et al.   SEMINARS IN PERINATOLOGY

Expanded Carrier Screening in Reproductive Medicine—Points to Consider

(2015) Janice G. Edwards et al.   OBSTETRICS AND GYNECOLOGY

Changing trends in carrier screening for genetic disease in the United States

(2015) Shivani B. Nazareth et al.   PRENATAL DIAGNOSIS

Systematic Classification of Disease Severity for Evaluation of Expanded Carrier Screening Panels

(2014) Gabriel A. Lazarin et al.   PLoS One

ACMG position statement on prenatal/preconception expanded carrier screening

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

The dangers of including nonclassical cystic fibrosis variants in population-based screening panels: p.L997F, further genotype/phenotype correlation data

(2011) Charles M. Strom et al.   GENETICS IN MEDICINE

Expanded carrier screening and the law of unintended consequences: From cystic fibrosis to fragile X

(2011) Wayne W. Grody   GENETICS IN MEDICINE

Preconceptional genetic carrier testing and the commercial offer directly-to-consumers

(2011) P. Borry et al.   HUMAN REPRODUCTION

A universal carrier test for the long tail of Mendelian disease

(2010) Balaji S. Srinivasan et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Population programs for the detection of couples at risk for severe monogenic genetic diseases

(2009) Joël Zlotogora   HUMAN GENETICS

Three-month follow-up of Western and non-Western participants in a study on preconceptional ancestry-based carrier couple screening for cystic fibrosis and hemoglobinopathies in the Netherlands

(2008) Phillis Lakeman et al.   GENETICS IN MEDICINE

Carrier screening in individuals of Ashkenazi Jewish descent

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