Makrythanasis, Periklis

Top Publications

Top Publications Authored or Co-Authored by "Makrythanasis, Periklis"

• Tissue-Specific Effects of Genetic and Epigenetic Variation on Gene Regulation and Splicing

  PLoS Genetics, Volume 11, No. 1, Article e1004958, Year 2015, Citations 185
• Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

  Human Mutation, Volume 35, No. 10, Year 2014, Citations 79
• Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia

  American Journal of Human Genetics, Volume 98, No. 4, Year 2016, Citations 76
• The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome

  Genome Research, Volume 23, No. 9, Year 2013, Citations 72
• A Novel Homozygous Mutation in FGFR3 Causes Tall Stature, Severe Lateral Tibial Deviation, Scoliosis, Hearing Impairment, Camptodactyly, and Arachnodactyly

  Human Mutation, Volume 35, No. 8, Year 2014, Citations 63