Salih, Mustafa Abdalla M.

Top Publications

Top Publications Authored or Co-Authored by "Salih, Mustafa Abdalla M."

• Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy

  Nature Genetics, Volume 32, No. 2, Year 2002, Citations 494
• Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2

  Nature Genetics, Volume 25, No. 1, Year 2000, Citations 453
• Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families

  Cell Reports, Volume 10, No. 2, Year 2015, Citations 386
• Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis

  Science, Volume 304, No. 5676, Year 2004, Citations 364
• Impaired glycosylation and cutis laxa caused by mutations in the vesicular H⁺-ATPase subunit ATP6V0A2

  Nature Genetics, Volume 40, No. 1, Year 2008, Citations 340