Yüksel, Zafer

Top Publications

Top Publications Authored or Co-Authored by "Yüksel, Zafer"

• The human phenotype ontology in 2021

  Nucleic Acids Research, Volume 49, No. D1, Year 2021, Citations 623
• De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder

  Cell Reports, Volume 9, No. 1, Year 2014, Citations 151
• Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy

  Nature Communications, Volume 13, No. 1, Article 6664, Year 2022, Citations 48
• Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome

  European Journal of Medical Genetics, Volume 61, No. 10, Year 2018, Citations 24
• Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans

  European Journal of Human Genetics, Volume 23, No. 2, Year 2015, Citations 20