Medical genomics: The intricate path from genetic variant identification to clinical interpretation-Reference-Cited by-同舟云学术

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Medical genomics: The intricate path from genetic variant identification to clinical interpretation

Published:2014-09 Issue:3 Volume:3 Page:60-67
ISSN:2212-0661
Container-title:Applied & Translational Genomics
language:en
Short-container-title:Applied & Translational Genomics

Author:

Quintáns B.,Ordóñez-Ugalde A.,Cacheiro P.,Carracedo A.,Sobrido M.J.

Funder

Fondo de Investigaciones Sanitarias

Publisher

Elsevier BV

Subject

Pharmaceutical Science,Molecular Biology,Biotechnology

Reference50 articles.

1. Double-trouble in pediatric neurology: myotonia congenita combined with Charcot–Marie–Tooth disease type 1a;Ardissone;Muscle Nerve,2014

2. Challenges of diagnostic exome sequencing in an inbred founder population;Azmanov;Mol. Genet. Genomic Med.,2013

3. Experimental evolution, loss-of-function mutations, and “the first rule of adaptive evolution”;Behe;Q. Rev. Biol.,2010

4. Collective judgment predicts disease-associated single nucleotide variants;Capriotti;BMC Genomics,2013

5. Protrudin binds atlastins and endoplasmic reticulum-shaping proteins and regulates network formation;Chang;Proc. Natl. Acad. Sci. U. S. A.,2013

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