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Saudi Pharmaceutical Journal : SPJ : the Official Publication of the Saudi Pharmaceutical Society|February 5, 2024
Whole-exome sequencing identifies cancer-associated variants of the endo-lysosomal ion transport channels in the Saudi populationLama Binobaid, Homood M As Sobeai, Khalid Alhazzani, et al.Nucleic Acids Research|March 4, 2020
The acute myeloid leukemia variant DNMT3A Arg882His is a DNMT3B-like enzymeAllison B Norvil, Lama AlAbdi, Bigang Liu, et al.Human Genetics|December 23, 2022
KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolonMohammed Almannai, Lama AlAbdi, Sateesh Maddirevula, et al.Clinical Genetics|February 20, 2026
WDR59 Is Mutated in Individuals With Autosomal Recessive Syndromic Dilated CardiomyopathyLama Alabdi, Benjamin Cogne, Ali S Almasood, et al.Clinical Genetics|February 28, 2024
A founder variant expands the phenotype of WNT7B-related PDAC syndromeLama AlAbdi, Zuhair Rahbeeni, Sateesh Maddirevula, et al.Genome Medicine|October 14, 2021
Lethal variants in humans: lessons learned from a large molecular autopsy cohortHanan E Shamseldin, Lama AlAbdi, Sateesh Maddirevula, et al.Journal of Medical Genetics|November 10, 2022
Homozygous truncating variant in <i>MAN2A2</i> causes a novel congenital disorder of glycosylation with neurological involvementSonal Mahajan, Bobby George Ng, Lama AlAbdi, et al.Cell Reports|February 6, 2020
Oct4-Mediated Inhibition of Lsd1 Activity Promotes the Active and Primed State of Pluripotency EnhancersLama AlAbdi, Debapriya Saha, Ming He, et al.Nature Communications|October 18, 2023
Clinical utility of polygenic scores for cardiometabolic disease in ArabsInjeong Shim, Hiroyuki Kuwahara, NingNing Chen, et al.Nature Communications|August 29, 2023
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized familiesLama AlAbdi, Sateesh Maddirevula, Hanan E Shamseldin, et al.Pageof 6