Masri, Amira

Top Publications

Top Publications Authored or Co-Authored by "Masri, Amira"

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

  Science, Volume 343, No. 6170, Year 2014, Citations 476
• Mutations in PYCR1 cause cutis laxa with progeroid features

  Nature Genetics, Volume 41, No. 9, Year 2009, Citations 230
• Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield

  Molecular Psychiatry, Volume 22, No. 4, Year 2017, Citations 184
• Mutations in KEOPS-complex genes cause nephritic syndrome with primary microcephaly

  Nature Genetics, Volume 49, No. 10, Year 2017, Citations 146
• 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