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American Journal of Human Genetics|January 16, 2026
Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disordersJesse M Levine, Daniel G Calame, Riccardo Sangermano, et al.
Brain : a Journal of Neurology|October 6, 2022
Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defectsLama AlAbdi, Muriel Desbois, Domniţa-Valeria Rusnac, et al.
Frontiers in Genetics|January 18, 2021
Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An UpdateSateesh Maddirevula, Hanan E Shamseldin, Amy Sirr, et al.
Brain : a Journal of Neurology|October 8, 2025
EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defectsSaikat Ghosh, Jaskaran Singh, Nadirah S Damseh, et al.
American Journal of Human Genetics|March 26, 2026
Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobilityLama Alabdi, Abdullah Sezer, Fatema Alzahrani, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 20, 2024
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement DisordersJuan Darío Ortigoza-Escobar, Mina Zamani, Nathalie Dorison, et al.
Genome Medicine|December 15, 2023
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseasesLama AlAbdi, Hanan E Shamseldin, Ebtissal Khouj, et al.
Med (New York, N.Y.)|November 6, 2024
Arab founder variants: Contributions to clinical genomics and precision medicineLama AlAbdi, Sateesh Maddirevula, Bayan Aljamal, et al.
Genome Medicine|September 30, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patientsKhadijah Bakur, Halima Hamid, Bader Alhaddad, et al.
Medrxiv : the Preprint Server for Health Sciences|March 18, 2024
Neurodevelopmental disorders associated variants in <i>ADAT3</i> disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migrationJordi Del-Pozo-Rodriguez, Peggy Tilly, Romain Lecat, et al.
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