Alhaddad, Bader

Top Publications

Top Publications Authored or Co-Authored by "Alhaddad, Bader"

• Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases

  Annals of Neurology, Volume 82, No. 6, Year 2017, Citations 58
• Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities

  American Journal of Human Genetics, Volume 106, No. 2, Year 2020, Citations 25
• KCNC1-related disorders: new de novo variants expand the phenotypic spectrum

  Annals of Clinical and Translational Neurology, Volume 6, No. 7, Year 2019, Citations 21
• Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

  American Journal of Human Genetics, Volume 108, No. 10, Year 2021, Citations 10
• Reclassifying variations of unknown significance in diseases affecting Saudi Arabia’s population reveal new associations

  Frontiers in Genetics, Volume 14, Article 1250317, Year 2023