Zaki, Maha S.

Top Publications

Top Publications Authored or Co-Authored by "Zaki, Maha S."

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

  Science, Volume 343, No. 6170, Year 2014, Citations 476
• Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

  American Journal of Medical Genetics, Part A, Volume 167, No. 2, Year 2015, Citations 449
• Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man

  American Journal of Human Genetics, Volume 90, No. 3, Year 2012, Citations 312
• Exome Sequencing Can Improve Diagnosis and Alter Patient Management

  Science Translational Medicine, Volume 4, No. 138, Article 138ra78, Year 2012, Citations 267
• 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