Béla Melegh

TL;DR: Investigation of the genetic variability and haplotype profile of SLCO1B1 polymorphisms in Roma and Hungarian populations found the 388A was found to be the minor allele contrary to Indians (India), which reflects the measured average European rates in Hungarians.

TL;DR: Analysis of genome-wide autosomal single nucleotide polymorphism data shows that the Ottoman occupation of Europe left detectable impact in the affected East-Central European area and shaped the ancestry of the Romani people as well.

TL;DR: A family with a novel NM_005494.2:c.271T > G p.(Phe91Val) variant in DNAJB6 with a late-onset, mild and slowly progressive form of the disease is presented, including one individual, who in her 7th decade of life has subclinical LGMD1D with only mild features on muscle biopsy and MRI.

TL;DR: Investigating the allele frequencies of rs4946728 and rs1040411 noncoding SNPs in biobanked, randomly selected DNA of average, apparently healthy Hungarians and in samples of Roma suggests genetic characterization of Hungarian pediatric Hodgkin patients seems to be advantageous prior to the treatment of their disease.

TL;DR: A diverse genetic HI etiology in the Hungarian Roma is demonstrated and a new gene, PLS1, is identified, for autosomal dominant human non-syndromic HI, which is important in the preservation of adult stereocilia and normal hearing.