Related references
Note: Only part of the references are listed.Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)
Anthony R. Gregg et al.
GENETICS IN MEDICINE (2021)
Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR
Keith Nykamp et al.
HUMAN MUTATION (2021)
Practices in synagogues regarding Jewish genetic disease education
Allison J. Thomsen et al.
JOURNAL OF GENETIC COUNSELING (2020)
Expanded carrier screening for preconception reproductive risk assessment: Prevalence of carrier status in a Mexican population
Carlos Hernandez-Nieto et al.
PRENATAL DIAGNOSIS (2020)
Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients
Gidon Akler et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2020)
Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach
Maggie Westemeyer et al.
GENETICS IN MEDICINE (2020)
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski et al.
NATURE (2020)
Prevalence and properties of intragenic copy-number variation in Mendelian disease genes
Rebecca Truty et al.
GENETICS IN MEDICINE (2019)
Clinical impact and cost-effectiveness of a 176-condition expanded carrier screen
Kyle A. Beauchamp et al.
GENETICS IN MEDICINE (2019)
A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing-Detected Variants with an Orthogonal Method in Clinical Genetic Testing
Stephen E. Lincoln et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2019)
Ethnicity-Based Carrier Screening
Jennifer R. King et al.
OBSTETRICS AND GYNECOLOGY CLINICS OF NORTH AMERICA (2018)
Assessment of willingness to pay for expanded carrier screening among women and couples undergoing preconception carrier screening
Elizabeth V. Clarke et al.
PLOS ONE (2018)
A comprehensive strategy for exome-based preconception carrier screening
Suzanne C. E. H. Sallevelt et al.
GENETICS IN MEDICINE (2017)
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria
Keith Nykamp et al.
GENETICS IN MEDICINE (2017)
The Origins of Ashkenaz, Ashkenazic Jews, and Yiddish
Ranajit Das et al.
Frontiers in Genetics (2017)
Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing
Tia L. Kauffman et al.
CONTEMPORARY CLINICAL TRIALS (2017)
Do people from the Jewish community prefer ancestry-based or pan-ethnic expanded carrier screening?
Kim C. A. Holtkamp et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2016)
The Israeli national population program of genetic carrier screening for reproductive purposes
Joel Zlotogora et al.
GENETICS IN MEDICINE (2016)
Genetic Carrier Screening in the Twenty-first Century
Ruofan Yao et al.
CLINICS IN LABORATORY MEDICINE (2016)
Phenotypes of California CF Newborn Screen-Positive Children with CFTR 5T Allele by TG Repeat Length
Danieli Barino Salinas et al.
GENETIC TESTING AND MOLECULAR BIOMARKERS (2016)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Creation of a National, At-home Model for Ashkenazi Jewish Carrier Screening
Karen Arnovitz Grinzaid et al.
JOURNAL OF GENETIC COUNSELING (2015)
The population genetics of the Jewish people
Harry Ostrer et al.
HUMAN GENETICS (2013)
Experience with Carrier Screening and Prenatal Diagnosis for 16 Ashkenazi Jewish Genetic Diseases
Stuart A. Scott et al.
HUMAN MUTATION (2010)
Ashkenazi Jewish Screening in the Twenty-first Century
Susan Klugman et al.
OBSTETRICS AND GYNECOLOGY CLINICS OF NORTH AMERICA (2010)
Population-Based Tay-Sachs Screening Among Ashkenazi Jewish Young Adults in the 21st Century: Hexosaminidase A Enzyme Assay Is Essential for Accurate Testing
Adele Schneider et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
Carrier screening in individuals of Ashkenazi Jewish descent
Susan J Gross et al.
GENETICS IN MEDICINE (2008)
Carrier matching and collective socialization in community genetics: Dor Yeshorim and the reinforcement of stigma
Aviad E. Raz et al.
SOCIAL SCIENCE & MEDICINE (2008)
Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification
H Vallance et al.
MOLECULAR GENETICS AND METABOLISM (2006)
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign
JD Groman et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model
MM Kaback
EUROPEAN JOURNAL OF PEDIATRICS (2000)