Homozygous missense mutation inMED25segregates with syndromic intellectual disability in a large consanguineous family

Med25 is required for estrogen receptor alpha (ERα)-mediated regulation of human CYP2C9 expression

(2014) Zhe Shi et al.   BIOCHEMICAL PHARMACOLOGY

Subunit Architecture and Functional Modular Rearrangements of the Transcriptional Mediator Complex

(2014) Kuang-Lei Tsai et al.   CELL

Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures

(2013) Emma L. Baple et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Role for Human Mediator Subunit MED25 in Recruitment of Mediator to Promoters by Endoplasmic Reticulum Stress-responsive Transcription Factor ATF6α

(2013) Dotan Sela et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Mediator complex subunit MED25 is targeted by the N-terminal transactivation domain of the PEA3 group members

(2013) Alexis Verger et al.   NUCLEIC ACIDS RESEARCH

Consanguineous unions and the burden of disability: A population-based study in communities of Northeastern Brazil

(2012) Mathias Weller et al.   AMERICAN JOURNAL OF HUMAN BIOLOGY

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

(2012) Vincent Plagnol et al.   BIOINFORMATICS

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

The impact of the unfolded protein response on human disease

(2012) Shiyu Wang et al.   JOURNAL OF CELL BIOLOGY

Predicting the Functional Effect of Amino Acid Substitutions and Indels

(2012) Yongwook Choi et al.   PLoS One

A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family

(2011) Masoud Garshasbi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Unraveling framework of the ancestral Mediator complex in human diseases

(2011) Claudio Napoli et al.   BIOCHIMIE

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

MED23 Mutation Links Intellectual Disability to Dysregulation of Immediate Early Gene Expression

(2011) S. Hashimoto et al.   SCIENCE

Wwp2 is essential for palatogenesis mediated by the interaction between Sox9 and mediator subunit 25

(2011) Yukio Nakamura et al.   Nature Communications

Infantile Cerebral and Cerebellar Atrophy Is Associated with a Mutation in the MED17 Subunit of the Transcription Preinitiation Mediator Complex

(2010) Rami Kaufmann et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetics of Early Onset Cognitive Impairment

(2010) Hans Hilger Ropers   Annual Review of Genomics and Human Genetics

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan

(2010) MA Rafiq et al.   CLINICAL GENETICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots

(2010) Andreas Walter Kuss et al.   HUMAN GENETICS

Med25 Is Required for RNA Polymerase II Recruitment to Specific Promoters, Thus Regulating Xenobiotic and Lipid Metabolism in Human Liver

(2010) R. Rana et al.   MOLECULAR AND CELLULAR BIOLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models

(2009) Alejandro Leal et al.   NEUROGENETICS

HomozygosityMapper--an interactive approach to homozygosity mapping

(2009) D. Seelow et al.   NUCLEIC ACIDS RESEARCH