Azam, Matloob

Top Publications

Top Publications Authored or Co-Authored by "Azam, Matloob"

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

  Science, Volume 343, No. 6170, Year 2014, Citations 476
• Exome Sequencing Can Improve Diagnosis and Alter Patient Management

  Science Translational Medicine, Volume 4, No. 138, Article 138ra78, Year 2012, Citations 267
• CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

  American Journal of Human Genetics, Volume 81, No. 1, Year 2007, Citations 145
• 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