Stylianos E. Antonarakis

TL;DR: Cases show that some ARHR cases may develop with age an unaccountable increase in bone density and bone overgrowth, and the genetic basis of this pathology is reported.

TL;DR: Nine (GT)n polymorphic markers from HC21 are reported on, which show that dinucleotide repeat sequences such as (GTn)n are widespread throughout the human genome and can be rapidly analyzed by the polymerase chain reaction.

TL;DR: A novel protein encoded by the C210RF2 gene in chromosomal locus 21q22.3 was characterized by immunochemistry and indicated the ubiquitous expression of the protein, which is a plausible candidate gene for DFNB8/10.

TL;DR: A method based on PCR after DNA deamination of the GC‐rich repeat region, which improves the PCR condition to such an extent that it is able to reliably amplify expanded alleles of affected individuals (homozygotes and compound heterozygotes), but also the two allele of full mutation carriers, whose analysis is particularly difficult because of PCR bias and heteroduplex formation between theTwo alleles.

TL;DR: CATCH, an algorithm that combines genotyped SNPs of all family members for the optimal detection of Runs Of Homozygosity (ROH) and exome sequencing data from one affected individual to identify putative causative variants in consanguineous families, proved to be effective.