Journal of Genomes and Exomes

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
Journal of Genomes and Exomes 2012:1 7-14
Case report | Published on 20 Aug 2012

Advances, Challenges and Prospects in Small RNA Mediated Approaches of Virus Resistance in Plants
Surekha Agarwal and Satendra K Mangrauthia
Journal of Genomes and Exomes 2013:2 43-62
Review | Published on 18 Jun 2013

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
Journal of Genomes and Exomes 2013:2 1-18
Original Research | Published on 18 Feb 2013

Exome Sequencing Reveals De Novo Germline Mutation of the Mammalian Target of Rapamycin (MTOR) in a Patient with Megalencephaly and Intractable Seizures
Laurie D. Smith, Carol J. Saunders, Darrell L. Dinwiddie, Andrea M. Atherton, Neil A. Miller, Sarah E. Soden, Emily G. Farrow, Ahmed T.G. Abdelmoity and Stephen F. Kingsmore
Journal of Genomes and Exomes 2013:2 63-72
Short Report | Published on 04 Sep 2013

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
Journal of Genomes and Exomes 2012:1 15-24
Case report | Published on 06 Dec 2012

Expanding the Phenotypic Spectrum of Nicotinamide Nucleotide Transhydrogenase (NNT) Mutations and using Whole Exome Sequencing to Discover Potential Disease Modifiers
Caroline Hasselmann, Johnny Deladoëy, Jean-Marc Vuissoz, Lysanne Patry, Najmeh Alirezaie, Jeremy Schwartzentruber, FORGE Canada Consortium, Cheri L. Deal, Guy Van Vliet, Jacek Majewski and Mark E. Samuels
Journal of Genomes and Exomes 2013:2 19-30
Original Research | Published on 18 Mar 2013

A New Journal and a New Model for Structured Data Dissemination for an Era of Genomic Medicine
Stephen F. Kingsmore
Journal of Genomics and Exomics 2012:1 1-5
Editorial | Published on 21 Jun 2012 | Highly accessed (previous month)

Structured Genome-Scale Variant and Clinical Data Reporting for Meta-Analysis in an Era of Genomic Medicine
Darrell L. Dinwiddie, Carol J. Saunders, Emily G. Farrow, Sarah E. Soden, Neil A. Miller and Stephen F. Kingsmore
Journal of Genomes and Exomes 2013:2 31-42
Opinion | Published on 07 Apr 2013

Genome-wide Identification and Characterization of Transcription Factor Binding Motifs of NBS-LRR Genes in Rice and Arabidopsis
Gandhimani Ramkumar, Maganti S. Madhav, Akshaya K. Biswal, S.J.S. Rama Devi, Kannabiran Sakthivel, Madhan K. Mohan, B. Umakanth, Satendra K. Mangrauthia, Raman M. Sundaram and Basavaraj C. Viraktamath
Journal of Genomes and Exomes 2014:3 7-15
Original Research | Published on 26 Feb 2014

A Novel Variant in the STAT3 Gene Associated with Autoimmune Enteropathy in a Father–Son Duo
Voytek Slowik, Darrell L. Dinwiddie, Christina E. Ciaccio, Lei Shao, Carol J. Saunders, Jon A. Vanderhoof, Stephen F. Kingsmore and Seth Septer
Journal of Genomes and Exomes 2014:3 1-5
Case report | Published on 26 Feb 2014

Many Breast Cancer Mutations Parallel Mutations in Known Viral Cancers
Bernard Friedenson
Journal of Genomes and Exomes 2014:3 17-35
Original Research | Published on 13 Oct 2014

Mutations in Breast Cancer Exome Sequences Predict Susceptibility to Infections and Converge on the Same Signaling Pathways
Bernard Friedenson
Journal of Genomes and Exomes 2015:4 1-28
Original Research | Published on 26 Aug 2015

Correction to Reference Numbers in: “Many Breast Cancer Mutations Parallel Mutations in Known Viral Cancers”
Bernard Friedenson
Journal of Genomes and Exomes 2014:3 37-37
Correction | Published on 14 Dec 2014