With expanded carrier screening, founder populations run the risk of being overlooked-Reference-Cited by-同舟云学术

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With expanded carrier screening, founder populations run the risk of being overlooked

Published:2017-05-29 Issue:4 Volume:8 Page:327-333
ISSN:1868-310X
Container-title:Journal of Community Genetics
language:en
Short-container-title:J Community Genet

Author:

Mathijssen Inge B.,van Maarle Merel C.,Kleiss Iris I.M.,Redeker Egbert J.W.,ten Kate Leo P.,Henneman Lidewij,Meijers-Heijboer Hanne

Funder

ZonMw

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Public Health, Environmental and Occupational Health,Epidemiology

Link

http://link.springer.com/article/10.1007/s12687-017-0309-5/fulltext.html

Reference42 articles.

1. ACOG Committee on Genetics (2009) ACOG Committee opinion no. 442: preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. Obstet Gynecol 114:950–953

2. Almomani R, Sun Y, Aten E, Hilhorst-Hofstee Y, Peeters-Scholte CM, van Haeringen A, Hendriks YM, den Dunnen JT, Breuning MH, Kriek M, Santen GW (2013) GPSM2 and Chudley-McCullough syndrome: a Dutch founder variant brought to North America. Am J Med Genet A 161A:973–976

3. Balemans W, Patel N, Ebeling M, van Hul E, Wuyts W, Lacza C, Dioszegi M, Dikkers FG, Hildering P, Willems PJ, Verheij JB, Lindpaintner K, Vickery B, Foernzler D, van Hul W (2002) Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease. J Med Genet 39:91–97

4. Barth PG, Vrensen GF, Uylings HB, Oorthuys JW, Stam FC (1990) Inherited syndrome of microcephaly, dyskinesia and pontocerebellar hypoplasia: a systemic atrophy with early onset. J Neurol Sci 97:25–42

5. Basel-Vanagaite L, Taub E, Halpern GJ, Drasinover V, Magal N, Davidov B, Zlotogora J, Shohat M (2007) Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel. Eur J Hum Genet 15:250–253

Cited by 8 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. Pregnancy Planning and Genetic Testing: Exploring Advantages, and Challenges;Genes;2024-09-13

2. Classification of osteogenesis imperfecta: Importance for prophylaxis and genetic counseling;World Journal of Clinical Cases;2023-04-26

3. The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders;npj Genomic Medicine;2021-06-02

4. Founder variants and population genomes—Toward precision medicine;Advances in Genetics;2021

5. The aims of expanded universal carrier screening: Autonomy, prevention, and responsible parenthood;Bioethics;2019-02-07

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