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

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

(2017) Xia Wang et al.   NATURE GENETICS

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

(2017) Jennifer E. Posey et al.   NEW ENGLAND JOURNAL OF MEDICINE

Lessons learned from additional research analyses of unsolved clinical exome cases

(2017) Mohammad K. Eldomery et al.   Genome Medicine

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

(2016) Margot R.F. Reijnders et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De novo mutations ofKIAA2022in females cause intellectual disability and intractable epilepsy

(2016) Iris M de Lange et al.   JOURNAL OF MEDICAL GENETICS

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

(2016) Monkol Lek et al.   NATURE

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

Molecular diagnostic experience of whole-exome sequencing in adult patients

(2015) Jennifer E. Posey et al.   GENETICS IN MEDICINE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

(2015) Ender Karaca et al.   NEURON

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations inPHF6in seven females with a distinct phenotype

(2013) Christiane Zweier et al.   JOURNAL OF MEDICAL GENETICS

The Neurobiology of X-Linked Intellectual Disability

(2013) Silvia Bassani et al.   NEUROSCIENTIST

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery

(2012) Herbert A. Lubs et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Motif Unique to the Human Dead-Box Protein DDX3 Is Important for Nucleic Acid Binding, ATP Hydrolysis, RNA/DNA Unwinding and HIV-1 Replication

(2011) Anna Garbelli et al.   PLoS One

Autism and other neuropsychiatric symptoms are prevalent in individuals withMeCP2duplication syndrome

(2009) Melissa B. Ramocki et al.   ANNALS OF NEUROLOGY