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ISSN: 2333-9721
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Journal of Genomes and Exomes

ISSN Print: 2253-5004

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主页: http://www.la-press.com/journal-of-genomes-and-exomes-j173

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A New Journal and a New Model for Structured Data Dissemination for an Era of Genomic Medicine

Stephen F. Kingsmore

Exome Sequencing Reveals Cause of Hypomyelinating Leukodystrophy

Darrell L. Dinwiddie, Neil A. Miller, Carol J. Saunders, Sarah E. Soden, Emily G. Farrow, Grace M. Hobson and Stephen F. Kingsmore

Expanding the Phenotypic Spectrum of Nicotinamide Nucleotide Transhydrogenase (NNT) Mutations and using Whole Exome Sequencing to Discover Potential Disease Modifiers

Caroline Hasselmann, Johnny Delado y, Jean-Marc Vuissoz, Lysanne Patry, Najmeh Alirezaie, Jeremy Schwartzentruber, FORGE Canada Consortium, Cheri L. Deal, Guy Van Vliet, Jacek Majewski and Mark E. Samuels

A Systematic Approach to Implementing Monogenic Genomic Medicine: Genotype-Driven Diagnosis of Genetic Diseases

Sarah Elizabeth Soden, Carol Jean Saunders, Darrell Lee Dinwiddie, Neil Andrew Miller, Andrea Michelle Atherton, Noor Abu Alnadi, J. Steve Leeder, Laurie Denise Smith, and Stephen Francis Kingsmore

Systematic Identification and Definition of Consistently Well-Characterized Protein-Coding Exons Using Next Generation Sequencing Technology

Praveen F. Cherukuri, Murat Sincan, John P. Accardi, Karin Fuentes Fajardo, Thomas C. Markello, Cornelius F. Boerkoel, Cynthia J. Tifft, William A. Gahl and David Adams

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