A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A

midlife crisis encodes a conserved zinc-finger protein required to maintain neuronal differentiation in Drosophila

(2013) T. D. Carney et al.   DEVELOPMENT

C. elegans Ring Finger Protein RNF-113 Is Involved in Interstrand DNA Crosslink Repair and Interacts with a RAD51C Homolog

(2013) Hyojin Lee et al.   PLoS One

TFIIH: when transcription met DNA repair

(2012) Emmanuel Compe et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

(2012) D. G. MacArthur et al.   SCIENCE

Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability

(2010) Annabel C. Whibley et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Primate and Rodent Specific Intron Gains and the Origin of Retrogenes with Splice Variants

(2010) Michał W Szcześniak et al.   MOLECULAR BIOLOGY AND EVOLUTION

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

(2009) Patrick S Tarpey et al.   NATURE GENETICS

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

(2009) Da Wei Huang et al.   Nature Protocols

PrimerBank: a resource of human and mouse PCR primer pairs for gene expression detection and quantification

(2009) Athanasia Spandidos et al.   NUCLEIC ACIDS RESEARCH

Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation

(2008) Guy Froyen et al.   AMERICAN JOURNAL OF HUMAN GENETICS