RecessiveDEAF1mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy

Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems

(2014) Anneke T. Vulto-van Silfhout et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Novel homozygousDEAF1variant suspected in causing white matter disease, intellectual disability, and microcephaly

(2014) Eissa A. Faqeih et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

POMKmutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability

(2014) Anja von Renesse et al.   JOURNAL OF MEDICAL GENETICS

Blockade of ActRIIB Signaling Triggers Muscle Fatigability and Metabolic Myopathy

(2014) Karima Relizani et al.   MOLECULAR THERAPY

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor

(2013) Matthew J Lyst et al.   NATURE NEUROSCIENCE

Structural and Functional Analysis of the DEAF-1 and BS69 MYND Domains

(2013) Fatiha Kateb et al.   PLoS One

HomozygosityMapper2012--bridging the gap between homozygosity mapping and deep sequencing

(2012) D. Seelow et al.   NUCLEIC ACIDS RESEARCH

Rett syndrome: Revised diagnostic criteria and nomenclature

(2010) Jeffrey L. Neul et al.   ANNALS OF NEUROLOGY