Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome

Delineating the phenotype of 1p36 deletion in adolescents and adults

(2014) Ashley Brazil et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Mediator complex: a master coordinator of transcription and cell lineage development

(2014) J.-w. Yin et al.   DEVELOPMENT

Further confirmation of the MED13L haploinsufficiency syndrome

(2014) Mieke M van Haelst et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability

(2013) Reza Asadollahi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A role for Mediator complex subunit MED13L in Rb/E2F-induced growth arrest

(2012) S P Angus et al.   ONCOGENE

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

Regulation of transmitter release by Ca2+ and synaptotagmin: insights from a large CNS synapse

(2011) Olexiy Kochubey et al.   TRENDS IN NEUROSCIENCES

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH