Associated Papers
Genomic determinants of response and resistance to pirtobrutinib in relapsed/refractory chronic lymphocytic leukemia.
Brown JR et al.
Blood, 2026
Qualitative and quantitative analysis of MED12 c.887G>A causing both missense and splicing variants in X-linked Ohdo syndrome.
Togi S et al.
American Journal of Medical Genetics. Part A, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Multiregion sampling of de novo metastatic prostate cancer reveals complex polyclonality and augments clinical genotyping.
Warner EW et al.
Nature Cancer, 2024
Novel pathogenic variant in MED12 causing non-syndromic dilated cardiomyopathy.
Ghasemi S et al.
Bmc Medical Genomics, 2023
The genetic landscape of pancreatic head ductal adenocarcinoma in China and prognosis stratification.
Yang Y et al.
Bmc Cancer, 2022
A novel nonsense variant in MED12 associated with malformations in a female fetus.
Faergeman SL et al.
Clinical Case Reports, 2021
Insights into the regulatory role and clinical relevance of mediator subunit, MED12, in human diseases.
Srivastava S et al.
Journal of Cellular Physiology, 2021
MED12-Related (Neuro)Developmental Disorders: A Question of Causality.
Plassche SV et al.
Genes, 2021
De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.
Polla DL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
A female patient with X-linked Ohdo syndrome of the Maat-Kievit-Brunner phenotype caused by a novel variant of MED12.
Murakami H et al.
Congenital Anomalies, 2020
MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review.
Rubinato E et al.
European Journal of Medical Genetics, 2020
MED12-Related Disease in a Chinese Girl: Clinical Characteristics and Underlying Mechanism.
Wang C et al.
Frontiers in Genetics, 2020
Clinically relevant molecular subtypes and genomic alteration-independent differentiation in gynecologic carcinosarcoma.
Gotoh O et al.
Nature Communications, 2019
Novel MED12 variant in a multiplex Fragile X syndrome family: dual molecular etiology of two X-linked intellectual disabilities with autism in the same family.
Lahbib S et al.
Molecular Biology Reports, 2019
Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders.
Srivastava S et al.
Molecular Genetics & Genomic Medicine, 2019
Genomic analysis identifies frequent deletions of Dystrophin in olfactory neuroblastoma.
Gallia GL et al.
Nature Communications, 2018
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
The power of the Mediator complex-Expanding the genetic architecture and phenotypic spectrum of MED12-related disorders.
Charzewska A et al.
Clinical Genetics, 2018
A novel variant in MED12 gene: Further delineation of phenotype.
Narayanan DL et al.
American Journal of Medical Genetics. Part A, 2017
MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression.
Donnio LM et al.
Human Molecular Genetics, 2017
De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?
Caro-Llopis A et al.
Pediatric Research, 2016
Two male sibs with severe micrognathia and a missense variant in MED12.
Prescott TE et al.
European Journal of Medical Genetics, 2016
Somatic MED12 mutations in prostate cancer and uterine leiomyomas promote tumorigenesis through distinct mechanisms.
Kämpjärvi K et al.
The Prostate, 2016
Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.
Langley KG et al.
American Journal of Medical Genetics. Part A, 2015
Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)].
Bouazzi H et al.
Clinical Case Reports, 2015
Mediator kinase module and human tumorigenesis.
Clark AD et al.
Critical Reviews in Biochemistry and Molecular Biology, 2015
A novel MED12 mutation associated with non-specific X-linked intellectual disability.
Yamamoto T et al.
Human Genome Variation, 2015
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations.
Isidor B et al.
American Journal of Medical Genetics. Part A, 2014
Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.
Lesca G et al.
American Journal of Medical Genetics. Part A, 2013
MED12 related disorders.
Graham JM et al.
American Journal of Medical Genetics. Part A, 2013
Mutations in MED12 cause X-linked Ohdo syndrome.
Vulto-van Silfhout AT et al.
American Journal of Human Genetics, 2013