Mehmet Tekman

TL;DR: Key Galaxy technical developments include an improved user interface for launching large-scale analyses with many files, interactive tools for exploratory data analysis, and a complete suite of machine learning tools.

TL;DR: It is demonstrated that the KCTD17 c.434 G>A p.)Arg145His mutation causes autosomal dominant M-D, a rare movement disorder characterized by a combination of non-epileptic myoclonic jerks and dystonia.

TL;DR: It is proposed that the PMM2 promoter mutation alters tissue-specific chromatin loop formation, with consequent organ-specific deficiency of PMM 2 leading to the restricted phenotype of HIPKD.

TL;DR: Identification of an additional family highlights the importance of STAG3 in POI pathogenesis and suggests it should be evaluated in families affected with POI, and exome sequencing combined with linkage analyses offers a powerful tool to efficiently find novel genetic causes of rare, heterogeneous disorders.

TL;DR: The phenotype and response to treatment in patients with autosomal dominant FMF caused by MEFV p.M694del mutation and haplotype reconstruction to investigate the possibility of common ancestry are characterized and the common haplotype suggests a single founder living in about 1460.