Abdalla, E. M.

Top Publications

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

• Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome

  American Journal of Human Genetics, Volume 90, No. 1, Year 2012, Citations 87
• Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

  Genetics in Medicine, Volume 20, No. 9, Year 2018, Citations 80
• Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

  Human Mutation, Volume 35, No. 10, Year 2014, Citations 79
• The morbid genome of ciliopathies: an update

  Genetics in Medicine, Volume 22, No. 6, Year 2020, Citations 67
• Neuroimaging findings in Mowat-Wilson syndrome: A study of 54 patients

  Genetics in Medicine, Volume 19, No. 6, Year 2017, Citations 58