Altunoğlu, Umut

Top Publications

Top Publications Authored or Co-Authored by "Altunoğlu, Umut"

• Mutations in WNT1 cause different forms of bone fragility

  American Journal of Human Genetics, Volume 92, No. 4, Year 2013, Citations 245
• Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

  Nature Genetics, Volume 44, No. 5, Year 2012, Citations 159
• Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

  Nature Genetics, Volume 49, No. 3, Year 2017, Citations 66
• Mutations in cep120 cause joubert syndrome as well as complex ciliopathy phenotypes

  Journal of Medical Genetics, Volume 53, No. 9, Year 2016, Citations 53
• Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

  PLoS Genetics, Volume 13, No. 3, Article e1006683, Year 2017, Citations 46