4.6 Article

Carrier screening in the Mexican Jewish community using a pan-ethnic expanded carrier screening NGS panel

Related references

Note: Only part of the references are listed.
Article Genetics & Heredity

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.

Summary: Carrier screening initially targeted specific genetic conditions in certain ethnic groups, but with the advancement of next-generation sequencing, panethnic screening has become possible. Understanding carrier status allows informed reproductive decisions, while standardized screening methods improve testing consistency.

GENETICS IN MEDICINE (2021)

Article Genetics & Heredity

Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR

Keith Nykamp et al.

Summary: Biallelic pathogenic variants in CFTR can manifest as cystic fibrosis or other CFTR-related disorders. The 5T allele, causing alternative splicing and reduced protein activity, is modulated by the adjacent TG repeat element, and its association with risk and phenotypes was evaluated in this study.

HUMAN MUTATION (2021)

Article Genetics & Heredity

Practices in synagogues regarding Jewish genetic disease education

Allison J. Thomsen et al.

JOURNAL OF GENETIC COUNSELING (2020)

Article Multidisciplinary Sciences

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski et al.

NATURE (2020)

Article Genetics & Heredity

Prevalence and properties of intragenic copy-number variation in Mendelian disease genes

Rebecca Truty et al.

GENETICS IN MEDICINE (2019)

Article Genetics & Heredity

Clinical impact and cost-effectiveness of a 176-condition expanded carrier screen

Kyle A. Beauchamp et al.

GENETICS IN MEDICINE (2019)

Article Obstetrics & Gynecology

Ethnicity-Based Carrier Screening

Jennifer R. King et al.

OBSTETRICS AND GYNECOLOGY CLINICS OF NORTH AMERICA (2018)

Article Genetics & Heredity

A comprehensive strategy for exome-based preconception carrier screening

Suzanne C. E. H. Sallevelt et al.

GENETICS IN MEDICINE (2017)

Article Genetics & Heredity

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria

Keith Nykamp et al.

GENETICS IN MEDICINE (2017)

Article Obstetrics & Gynecology

Committee Opinion No. 691

OBSTETRICS AND GYNECOLOGY (2017)

Article Genetics & Heredity

The Origins of Ashkenaz, Ashkenazic Jews, and Yiddish

Ranajit Das et al.

Frontiers in Genetics (2017)

Article Medicine, Research & Experimental

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)

Article Biochemistry & Molecular Biology

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)

Article Genetics & Heredity

The Israeli national population program of genetic carrier screening for reproductive purposes

Joel Zlotogora et al.

GENETICS IN MEDICINE (2016)

Article Medical Laboratory Technology

Genetic Carrier Screening in the Twenty-first Century

Ruofan Yao et al.

CLINICS IN LABORATORY MEDICINE (2016)

Article Biochemistry & Molecular Biology

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)

Article Genetics & Heredity

Creation of a National, At-home Model for Ashkenazi Jewish Carrier Screening

Karen Arnovitz Grinzaid et al.

JOURNAL OF GENETIC COUNSELING (2015)

Review Genetics & Heredity

The population genetics of the Jewish people

Harry Ostrer et al.

HUMAN GENETICS (2013)

Article Obstetrics & Gynecology

Ashkenazi Jewish Screening in the Twenty-first Century

Susan Klugman et al.

OBSTETRICS AND GYNECOLOGY CLINICS OF NORTH AMERICA (2010)

Article Genetics & Heredity

Carrier screening in individuals of Ashkenazi Jewish descent

Susan J Gross et al.

GENETICS IN MEDICINE (2008)

Article Public, Environmental & Occupational Health

Carrier matching and collective socialization in community genetics: Dor Yeshorim and the reinforcement of stigma

Aviad E. Raz et al.

SOCIAL SCIENCE & MEDICINE (2008)