Literature DB >> 24550428

Clinically relevant functional annotation of genotype.

Calum A MacRae1, Ramachandran S Vasan.   

Abstract

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Keywords:  Editorials

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Year:  2014        PMID： 24550428      PMCID： PMC4188549          DOI： 10.1161/CIRCGENETICS.114.000506

Source DB:  PubMed          Journal:  Circ Cardiovasc Genet        ISSN： 1942-3268


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  10 in total

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5.  Gene mutations versus clinically relevant phenotypes: lyso-Gb3 defines Fabry disease.

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Journal:  Circ Cardiovasc Genet       Date:  2014-01-06

Review 6.  Stem cell models of cardiac development and disease.

Authors:  Kiran Musunuru; Ibrahim J Domian; Kenneth R Chien
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Authors:  Christopher Newton-Cheh; Martin G Larson; Ramachandran S Vasan; Daniel Levy; Kenneth D Bloch; Aarti Surti; Candace Guiducci; Sekar Kathiresan; Emelia J Benjamin; Joachim Struck; Nils G Morgenthaler; Andreas Bergmann; Stefan Blankenberg; Frank Kee; Peter Nilsson; Xiaoyan Yin; Leena Peltonen; Erkki Vartiainen; Veikko Salomaa; Joel N Hirschhorn; Olle Melander; Thomas J Wang
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8.  A systematic survey of loss-of-function variants in human protein-coding genes.

Authors:  Daniel G MacArthur; Suganthi Balasubramanian; Adam Frankish; Ni Huang; James Morris; Klaudia Walter; Luke Jostins; Lukas Habegger; Joseph K Pickrell; Stephen B Montgomery; Cornelis A Albers; Zhengdong D Zhang; Donald F Conrad; Gerton Lunter; Hancheng Zheng; Qasim Ayub; Mark A DePristo; Eric Banks; Min Hu; Robert E Handsaker; Jeffrey A Rosenfeld; Menachem Fromer; Mike Jin; Xinmeng Jasmine Mu; Ekta Khurana; Kai Ye; Mike Kay; Gary Ian Saunders; Marie-Marthe Suner; Toby Hunt; If H A Barnes; Clara Amid; Denise R Carvalho-Silva; Alexandra H Bignell; Catherine Snow; Bryndis Yngvadottir; Suzannah Bumpstead; David N Cooper; Yali Xue; Irene Gallego Romero; Jun Wang; Yingrui Li; Richard A Gibbs; Steven A McCarroll; Emmanouil T Dermitzakis; Jonathan K Pritchard; Jeffrey C Barrett; Jennifer Harrow; Matthew E Hurles; Mark B Gerstein; Chris Tyler-Smith
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Review 9.  Missing heritability and strategies for finding the underlying causes of complex disease.

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Review 10.  Fabry disease.

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