An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals-Reference-Cited by-同舟云学术

An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals

Published:2013-03 Issue:3 Volume:15 Page:178-186
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Lazarin Gabriel A.,Haque Imran S.,Nazareth Shivani,Iori Kevin,Patterson A. Scott,Jacobson Jessica L.,Marshall John R.,Seltzer William K.,Patrizio Pasquale,Evans Eric A.,Srinivasan Balaji S.

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/gim2012114.pdf

Reference30 articles.

1. American College of Obstetricians and Gynecologists & American College of Medical Genetics. Preconception and Prenatal Carrier Screening for Cystic Fibrosis. Clinical and Laboratory Guidelines. American College of Obstetricians and Gynecologists: Washington, DC, 2001.

2. Samons MS. Early Experiences of Prenatal Genetic Counselors With Spinal Muscular Atrophy Carrier Testing [Thesis]. Brandeis University: Waltham, MA, 2010.

Cited by 215 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Assessment the carrier frequency of monogenic diseases in populations requiring assisted reproductive technology;BMC Medical Genomics;2024-08-19

2. Should we use expanded carrier screening in gamete donation?;Fertility and Sterility;2024-08

3. Laboratory testing for preconception/prenatal carrier screening: A technical standard of the American College of Medical Genetics and Genomics (ACMG);Genetics in Medicine;2024-07

4. Reproductive genetic carrier screening in pregnancy: improving health outcomes and expanding access;Journal of Perinatal Medicine;2024-06-27

5. An ESHG–ESHRE survey on the current practice of expanded carrier screening in medically assisted reproduction;Human Reproduction;2024-06-14