Abdel Aleem, Alice K.

Top Publications

Top Publications Authored or Co-Authored by "Abdel Aleem, Alice K."

• 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
• 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
• Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

  Human Mutation, Volume 31, No. 5, Year 2010, Citations 95
• Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation

  American Journal of Medical Genetics, Part A, Volume 143, No. 9, Year 2007, Citations 81
• Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

  European Journal of Human Genetics, Volume 21, No. 10, Year 2013, Citations 72