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Importance of complete phenotyping in prenatal whole exome sequencing

  • Published:2018-02 Issue:2 Volume:137 Page:175-181
  • ISSN:0340-6717
  • Container-title:Human Genetics
  • language:en
  • Short-container-title:Hum Genet

Author:

Aarabi Mahmoud,Sniezek Olivia,Jiang Huaiyang,Saller Devereux N.,Bellissimo Daniel,Yatsenko Svetlana A.,Rajkovic Aleksandar

Funder

Magee-Womens Research Institute and Foundation

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference27 articles.

1. Abou Tayoun AN, Spinner NB, Rehm HL, Green RC, Bianchi DW (2017) Prenatal DNA sequencing: clinical, counseling, and diagnostic laboratory considerations. Prenat Diagn. https://doi.org/10.1002/pd.5038

2. Alamillo CL, Powis Z, Farwell K, Shahmirzadi L, Weltmer EC, Turocy J, Lowe T, Kobelka C, Chen E, Basel D, Ashkinadze E, D’Augelli L, Chao E, Tang S (2015) Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies. Prenat Diagn 35(11):1073–1078. https://doi.org/10.1002/pd.4648

3. American College of Obstetricians and Gynecologists (ACOG), Committee on Genetics, the Society for Maternal-Fetal Medicine (2016) ACOG Committee Opinion No. 682: microarrays and next-generation sequencing technology: the use of advanced genetic diagnostic tools in obstetrics and gynecology. Obstet Gynecol 128(6):e262–e268. https://doi.org/10.1097/aog.0000000000001817

4. Brady PD, Delle Chiaie B, Christenhusz G, Dierickx K, Van Den Bogaert K, Menten B, Janssens S, Defoort P, Roets E, Sleurs E, Keymolen K, De Catte L, Deprest J, de Ravel T, Van Esch H, Fryns JP, Devriendt K, Vermeesch JR (2014) A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors. Genet Med 16(6):469–476. https://doi.org/10.1038/gim.2013.168

5. Brady PD, Van Esch H, Fieremans N, Froyen G, Slavotinek A, Deprest J, Devriendt K, Vermeesch JR (2015) Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia. Eur J Hum Genet 23(4):551–554. https://doi.org/10.1038/ejhg.2014.135

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