Associated Papers
Manifold functions of Mediator complex in neurodevelopmental disorders.
Li YW et al.
Neurobiology of Disease, 2025
Mediator structure and function in transcription initiation.
Rengachari S et al.
Biological Chemistry, 2023
Curated variation benchmarks for challenging medically relevant autosomal genes.
Wagner J et al.
Nature Biotechnology, 2022
Delineation of the phenotype of MED17-related disease in Caucasus-Jewish families.
Fattal-Valevski A et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2021
Structure of mammalian Mediator complex reveals Tail module architecture and interaction with a conserved core.
Zhao H et al.
Nature Communications, 2021
Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients.
Akler G et al.
Molecular Genetics & Genomic Medicine, 2020
Expanding the phenotype of MED 17 mutations: Description of two new cases and review of the literature.
Agostini A et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2018
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
Distinct but milder phenotypes with choreiform movements in siblings with compound heterozygous mutations in the transcription preinitiation mediator complex subunit 17 (MED17).
Hirabayashi S et al.
Brain & Development, 2016
Mediator independently orchestrates multiple steps of preinitiation complex assembly in vivo.
Eyboulet F et al.
Nucleic Acids Research, 2015
De novo 11q13.4q14.3 tetrasomy with uniparental isodisomy for 11q14.3qter.
Xiao B et al.
American Journal of Medical Genetics. Part A, 2015
Mediator and human disease.
Spaeth JM et al.
Seminars in Cell & Developmental Biology, 2011
Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.
Kaufmann R et al.
American Journal of Human Genetics, 2010
An expansion of phenotype: novel homozygous variant in the MED17 identified in patients with progressive microcephaly and global developmental delay.
Rafiullah R et al.
Journal of Neurogenetics, 0