Michael J. Friez

TL;DR: The American College of Medical Genetics and Genomics has developed the following professional standards and guidelines to assist clinical laboratories with the validation ofNext-generation sequencing methods and platforms, the ongoing monitoring of next- generation sequencing testing to ensure quality results, and the interpretation and reporting of variants found using these technologies.

TL;DR: A protein interaction network required for extraneuronal gene silencing comprising Mediator, G9a histone methyltransferase, and the RE1 silencing transcription factor (REST; also known as neuron restrictive silencer factor, NRSF) is described.

TL;DR: It is reported that the original family for whom the condition is named and five other families have a recurrent mutation (2881C>T, leading to R961W) in MED12, a gene located at Xq13 that functions as a thyroid receptor–associated protein in the Mediator complex.

TL;DR: In this paper, the authors describe the neurologic and clinical features of affected males from families with X-linked patterns of severe mental retardation, hypotonia, recurrent respiratory infection, and microduplication of Xq28 that consistently includes the MECP2 (methyl-CpG binding protein 2) gene.

TL;DR: It seems that these two X-linked mental retardation syndromes are allelic, with mutations in the MED12 gene.