Volume 133, Issue 6

Search all Human Genetics articles

June 2014

Special Topic on Human Functional Genomics

Issue Editor:

Emmanouil Dermitzakis

13 articles in this issue

Genomics of alternative splicing: evolution, development and pathophysiology
Eric R. Gamazon
Barbara E. Stranger
Review Paper 01 January 2014 Pages: 679 - 687
Genomics meets proteomics: identifying the culprits in disease
Hendrik G. Stunnenberg
Nina C. Hubner
Review Paper Open access 18 October 2013 Pages: 689 - 700
The grammar of transcriptional regulation
Shira Weingarten-Gabbay
Eran Segal
Review Paper 05 January 2014 Pages: 701 - 711
Cancer genomics identifies disrupted epigenetic genes
Laia Simó-Riudalbas
Manel Esteller
Review Paper 09 October 2013 Pages: 713 - 725
Determining causality and consequence of expression quantitative trait loci
A. Battle
S. B. Montgomery
Review Paper 26 April 2014 Pages: 727 - 735
De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis
Willa Thorson
Oscar Diaz-Horta
Mustafa Tekin
Original Investigation 13 December 2013 Pages: 737 - 742
Engineered chromosome-based genetic mapping establishes a 3.7 Mb critical genomic region for Down syndrome-associated heart defects in mice
Chunhong Liu
Masae Morishima
Y. Eugene Yu
Original Investigation 22 December 2013 Pages: 743 - 753
Identification of rare genetic variants in novel loci associated with Paget’s disease of bone
Mariejka Beauregard
Edith Gagnon
Laëtitia Michou
Original Investigation 27 December 2013 Pages: 755 - 768
Analysis of coding variants identified from exome sequencing resources for association with diabetic and non-diabetic nephropathy in African Americans
Jessica N. Cooke Bailey
Nicholette D. Palmer
Donald W. Bowden
Original Investigation 03 January 2014 Pages: 769 - 779
Common variants in genes of the postsynaptic FMRP signalling pathway are risk factors for autism spectrum disorders
Regina Waltes
Eftichia Duketis
Andreas G. Chiocchetti
Original Investigation 19 January 2014 Pages: 781 - 792
Genome-wide copy number variation study and gene expression analysis identify ABI3BP as a susceptibility gene for Kashin–Beck disease
Feng Zhang
Xiong Guo
Hong-Wen Deng
Original Investigation 21 January 2014 Pages: 793 - 799
A novel variant in the 3′ UTR of human SCN1A gene from a patient with Dravet syndrome decreases mRNA stability mediated by GAPDH’s binding
Tao Zeng
Zhao-Fei Dong
Yue-Sheng Long
Original Investigation 25 January 2014 Pages: 801 - 811
Lyle Armstrong: Epigenetics
I. Karen Temple
Book Review 19 April 2014 Pages: 813 - 814

Volume 133, Issue 6

Genomics of alternative splicing: evolution, development and pathophysiology

Genomics meets proteomics: identifying the culprits in disease

The grammar of transcriptional regulation

Cancer genomics identifies disrupted epigenetic genes

Determining causality and consequence of expression quantitative trait loci

De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis

Engineered chromosome-based genetic mapping establishes a 3.7 Mb critical genomic region for Down syndrome-associated heart defects in mice

Identification of rare genetic variants in novel loci associated with Paget’s disease of bone

Analysis of coding variants identified from exome sequencing resources for association with diabetic and non-diabetic nephropathy in African Americans

Common variants in genes of the postsynaptic FMRP signalling pathway are risk factors for autism spectrum disorders

Genome-wide copy number variation study and gene expression analysis identify ABI3BP as a susceptibility gene for Kashin–Beck disease

A novel variant in the 3′ UTR of human SCN1A gene from a patient with Dravet syndrome decreases mRNA stability mediated by GAPDH’s binding

Lyle Armstrong: Epigenetics

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