De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability

Phenotypic expansion in DDX3X - a common cause of intellectual disability in females

(2018) Xia Wang et al.   Annals of Clinical and Translational Neurology

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Cancer-associated DDX3X mutations drive stress granule assembly and impair global translation

(2016) Yasmine A. Valentin-Vega et al.   Scientific Reports

PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions

(2016) Jaroslav Bendl et al.   PLoS Computational Biology

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

(2015) Lot Snijders Blok et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome sequencing identifies somatic mutations of DDX3X in natural killer/T-cell lymphoma

(2015) Lu Jiang et al.   NATURE GENETICS

Large-scale discovery of novel genetic causes of developmental disorders

(2014) T. W. Fitzgerald et al.   NATURE

Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations

(2012) Trevor J. Pugh et al.   NATURE

Novel mutations target distinct subgroups of medulloblastoma

(2012) Giles Robinson et al.   NATURE

Dissecting the genomic complexity underlying medulloblastoma

(2012) David T. W. Jones et al.   NATURE

The Mutational Landscape of Head and Neck Squamous Cell Carcinoma

(2011) N. Stransky et al.   SCIENCE

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS