Lama Alabdi
Riyadh, Saudi Arabia
Last Updated: 09/26/2026
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Found 57 publications
Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype.
Journal: medRxiv : the preprint server for health sciences
Published: December 03, 2025
High Throughput Evidence Generation to Support Tentative Gene Disease Relationship from A Cohort Enriched for Autozygosity and Founder Effect.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 24, 2025
WDR59 Is Mutated in Individuals With Autosomal Recessive Syndromic Dilated Cardiomyopathy.
Journal: Clinical genetics
Published: November 13, 2025
Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.
Journal: Nature communications
Published: October 17, 2025
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 13, 2025
Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobility.
Journal: American journal of human genetics
Published: September 16, 2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Journal: Brain : a journal of neurology
Published: July 01, 2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Journal: Brain : a journal of neurology
Published: July 01, 2025
Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders.
Journal: American journal of human genetics
Published: June 20, 2025
Distinct pathophysiological mechanisms of CEP152 variants in microcephaly and brain abnormalities.
Journal: EMBO molecular medicine
Published: May 11, 2025
Last Updated: 09/26/2026