Al-Sannaa, Nouriya Abbas

Top Publications

Top Publications Authored or Co-Authored by "Al-Sannaa, Nouriya Abbas"

• 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
• Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

  Nature Communications, Volume 14, No. 1, Article 4109, Year 2023, Citations 100
• The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

  Brain, Volume 146, No. 8, Year 2023, Citations 100
• Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams-Oliver syndrome

  American Journal of Medical Genetics, Volume 129 A, No. 3, Year 2004, Citations 78
• Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

  Annals of Neurology, Volume 92, No. 2, Year 2022, Citations 65