Rosti, Rasim Özgür

Top Publications

Top Publications Authored or Co-Authored by "Rosti, Rasim Özgür"

• Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

  Science, Volume 343, No. 6170, Year 2014, Citations 476
• Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

  Nature Genetics, Volume 41, No. 9, Year 2009, Citations 247
• Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome

  Nature Genetics, Volume 47, No. 7, Year 2015, Citations 185
• Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

  Nature Genetics, Volume 47, No. 5, Year 2015, Citations 113
• Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

  eLife, Volume 4, No. MAY, Article e06602, Year 2015, Citations 105