Waleed Aamer
Doha, DA, Qatar
Last Updated: 09/26/2026
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Found 20 publications
Functional Interpretation of a Novel Homozygous METTL5 Variant Associated with ADHD and Neurodevelopmental Abnormalities: A Case Report and Literature Review.
Journal: Genes
Published: November 24, 2025
Sex-Based Differences in Clinical and Social Outcomes in Qatari Youth with ADHD.
Journal: Child psychiatry and human development
Published: August 05, 2025
Long-read sequencing identifies a novel de novo inversion in SMARCC2 in a pediatric patient with Coffin-siris syndrome 8: a case report.
Journal: BMC medical genomics
Published: July 08, 2025
Ritscher-Schinzel syndrome can be characterized as an endosomal recyclinopathy.
Journal: Science translational medicine
Published: July 02, 2025
Biallelic Loss-of-Function Variant in MINPP1 Causes Pontocerebellar Hypoplasia with Characteristic Severe Neurodevelopmental Disorder.
Journal: International journal of molecular sciences
Published: March 28, 2025
The biomedical landscape of genomic structural variation in the qatari population.
Journal: Nature communications
Published: December 23, 2024
A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review.
Journal: BMC nephrology
Published: November 28, 2023
Burden of Mendelian disorders in a large Middle Eastern biobank.
Journal: Genome medicine
Published: July 01, 2023
Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study.
Journal: Genome medicine
Published: March 02, 2023
Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank.
Journal: Journal of translational medicine
Published: September 06, 2022
A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report.
Journal: Cold Spring Harbor molecular case studies
Published: February 24, 2022
Last Updated: 09/26/2026