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The New England Journal of Medicine|January 16, 2020
JAK Inhibitor Therapy in a Child with Inherited USP18 DeficiencyFahad Alsohime, Marta Martin-Fernandez, Mohamad-Hani Temsah, et al.
Child and Adolescent Psychiatry and Mental Health|February 9, 2021
Adapting evidence-based clinical practice guidelines for people with attention deficit hyperactivity disorder in Saudi Arabia: process and outputs of a national initiativeFahad A Bashiri, Turki H Albatti, Muddathir H Hamad, et al.
Frontiers in Public Health|November 1, 2021
Parental Attitudes and Hesitancy About COVID-19 vs. Routine Childhood Vaccinations: A National SurveyMohamad-Hani Temsah, Abdullah N Alhuzaimi, Fadi Aljamaan, et al.
Annals of Neurology|March 6, 2014
SLC25A22 is a novel gene for migrating partial seizures in infancyAnnapurna Poduri, Erin L Heinzen, Vida Chitsazzadeh, et al.
Frontiers in Pediatrics|May 31, 2021
The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic DataMajid Alfadhel, Mohammed Almuqbil, Fuad Al Mutairi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 15, 2018
Genomic and phenotypic delineation of congenital microcephalyRanad Shaheen, Sateesh Maddirevula, Nour Ewida, et al.
Molecular Genetics and Metabolism|June 22, 2023
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changesNastassja Himmelreich, Mariarita Bertoldi, Majid Alfadhel, et al.
Cell Reports|January 6, 2015
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous familiesAnas M Alazami, Nisha Patel, Hanan E Shamseldin, et al.
Human Genetics|June 11, 2017
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomesDorota Monies, Mohamed Abouelhoda, Moeenaldeen AlSayed, et al.
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