Mais Hashem

Riyadh Armed Forces Hospital — Saudi Arabia

Biochemistry, Genetics and Molecular Biology · Life Sciences

43h-index5.5kcitations145works2.22yr avg
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Research Topics

Genomics and Rare Diseases(36), Genetics and Neurodevelopmental Disorders(25), RNA modifications and cancer(21), RNA Research and Splicing(16), Genomic variations and chromosomal abnormalities(14)

Publications145 total

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype
2025Open Access
Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy
2025Open Access
The role of program and performance budgeting in rationalizing government spending: A comparative study between line-item budgeting and program budgeting
AUIQ Humanities and Social Sciences·2025
Adult genomic medicine: lessons from a multisite study of 2700 patients
Genome Medicine·2025· 2 citedOpen Access
<i>ADAT3</i> variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration
Brain·2025· 2 citedOpen Access
Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability
Genetics in Medicine·2024· 2 citedOpen Access
Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome
EMBO Molecular Medicine·2024Open Access
Arab founder variants: Contributions to clinical genomics and precision medicine
Med·2024· 9 cited
Are the glim criteria valid for the diagnosis of malnutrition in stroke survivors?
Clinical Nutrition ESPEN·2024· 1 cited
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy
Nature Communications·2024· 4 citedOpen Access
Biallelic <i>ZBTB11</i> Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders
Movement Disorders·2024· 3 citedOpen Access
Neurodevelopmental disorders associated variants in <i>ADAT3</i> disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migration
2024Open Access
Further delineation of the phenotypic and metabolomic profile of <i>ALDH1L2</i>‐related neurodevelopmental disorder
Clinical Genetics·2024· 2 citedOpen Access
ARID1B-related disorder in 87 adults: Natural history and self-sustainability
Genetics in Medicine Open·2024· 6 citedOpen Access
Bi-allelic variants in <i>WDR47</i> lead to neuronal loss causing a rare neurodevelopmental syndrome with corpus callosum dysgenesis in humans
2023Open Access
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases
Genome Medicine·2023· 30 citedOpen Access
Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders
Journal of Clinical Investigation·2023· 30 citedOpen Access
Clinical utility of polygenic scores for cardiometabolic disease in Arabs
Nature Communications·2023· 16 citedOpen Access
<i>TRAPPC6B</i> biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions
Brain·2023· 7 citedOpen Access
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families
Nature Communications·2023· 36 citedOpen Access
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Frequent Co-authors

Fowzan S. Alkuraya(50), Firdous Abdulwahab(20), Hanan E. Shamseldin(19), Eissa Faqeih(18), Niema Ibrahim(18), Nisha Patel(15), Ranad Shaheen(15), Mohammed Al‐Owain(14), Sateesh Maddirevula(13), Dorota Monies(12), Hisham Alkuraya(11), Mohamed Abouelhoda(11), Amal Alhashem(11), Mohammed A. Aldahmesh(10), Arif O. Khan(9), Zuhair Rahbeeni(9), Hessa S. Alsaif(9), Wesam Kurdi(9), Majid Alfadhel(8), Mustafa A. Salih(8)