Clinical exome sequencing: results from 2819 samples reflecting 1000 families-Reference-Cited by-同舟云学术

Clinical exome sequencing: results from 2819 samples reflecting 1000 families

Published:2016-11-16 Issue:2 Volume:25 Page:176-182
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Trujillano Daniel,Bertoli-Avella Aida M,Kumar Kandaswamy Krishna,Weiss Maximilian ER,Köster Julia,Marais Anett,Paknia Omid,Schröder Rolf,Garcia-Aznar Jose Maria,Werber Martin,Brandau Oliver,Calvo del Castillo Maria,Baldi Caterina,Wessel Karen,Kishore Shivendra,Nahavandi Nahid,Eyaid Wafaa,Al Rifai Muhammad Talal,Al-Rumayyan Ahmed,Al-Twaijri Waleed,Alothaim Ali,Alhashem Amal,Al-Sannaa Nouriya,Al-Balwi Mohammed,Alfadhel Majid,Rolfs Arndt,Abou Jamra Rami^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2016146.pdf

Reference39 articles.

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3. Boycott KM, Vanstone MR, Bulman DE, MacKenzie AE : Rare-disease genetics in the era of next-generation sequencing: discovery to translation. Nat Rev Genet 2013; 14: 681–691.

4. Shashi V, McConkie-Rosell A, Rosell B et al: The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders. Genet Med 2014; 16: 176–182.

5. Makrythanasis P, Nelis M, Santoni FA et al: Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families. Hum Mutat 2014; 35: 1203–1210.

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