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Kheloud M. Alhamoudi

EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay
2020 · Muhammad Umair, Mariam Ballow, et al. · Clinical Genetics · 41
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A Missense Mutation in the UGDH Gene Is Associated With Developmental Delay and Axial Hypotonia
2020 · Kheloud M. Alhamoudi, Javaid Bhat, et al. · Frontiers in Pediatrics · 25
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Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report
2020 · Fuad Al Mutairi, Randa Alkhalaf, et al. · BMC Pulmonary Medicine · 22
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MTH1 deficiency selectively increases non-cytotoxic oxidative DNA damage in lung cancer cells: more bad news than good?
2018 · Hussein H.K. Abbas, Kheloud M.H. Alhamoudi, et al. · BMC Cancer · 22
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Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay
2020 · Abdulaziz Asiri, Essra Aloyouni, et al. · Annals of Clinical and Translational Neurology · 20
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Mutated VWA8 Is Associated With Developmental Delay, Microcephaly, and Scoliosis and Plays a Novel Role in Early Development and Skeletal Morphogenesis in Zebrafish
2021 · Muhammad Umair, Muhammad Farooq Khan, et al. · Frontiers in Cell and Developmental Biology · 19
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A homozygous nonsense mutation in DCBLD2 is a candidate cause of developmental delay, dysmorphic features and restrictive cardiomyopathy
2021 · Kheloud M. Alhamoudi, Tlili Barhoumi, et al. · Scientific Reports · 18
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How do BRAFV600E and TERT promoter mutations interact with the ATA and TNM staging systems in thyroid cancer?
2023 · Noha Mukhtar, Kheloud Alhamoudi, et al. · Frontiers in Endocrinology · 17
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Case Report: Severe Gonadal Dysgenesis Causing 46,XY Disorder of Sex Development Due to a Novel NR5A1 Variant
2022 · Kheloud M. Alhamoudi, Balgees Alghamdi, et al. · Frontiers in Genetics · 16
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Pancytopenia, Recurrent Infection, Poor Wound Healing, Heterotopia of the Brain Probably Associated with A Candidate Novel de Novo CDC42 Gene Defect: Expanding the Molecular and Phenotypic Spectrum
2021 · Abdulaziz Asiri, Deemah Alwadaani, et al. · Genes · 15
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A Unique Mechanism of a Novel SynonymousPHEXVariant Causing X-Linked Hypophosphatemia
2022 · Kheloud M Alhamoudi, Balgees Alghamdi, et al. · The Journal of Clinical Endocrinology & Metabolism · 5
A CYP11A1 homozygous exonic variant inducing an alternative splicing, frameshift and truncation in a family with congenital adrenal hyperplasia
2024 · Kheloud M. Alhamoudi, Meshael Alswailem, et al. · Heliyon · 4
Germline Telomere-Regulating Gene Variants Are Not Associated with Thyroid Cancer in a Saudi Arabian Population
2025 · Ali S. Alzahrani, Burair Alsaihati, et al. · Thyroid · 1
Familial glucocorticoid deficiency due to a novel TXNRD2 variant: expanding the spectrum of a rare genetic cause
2026 · Ibrahim Al Alwan, Kheloud M. Alhamoudi, et al. · Frontiers in Endocrinology
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Multiple tumours of different lineages likely related to a DNMT3A pathogenic R688H variant
2025 · Kheloud Alhamoudi, Meshael Alswailem, et al. · BMJ connections.
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THU683 TERT Promoter Mutations, But Not BRAFV600EMutation, Correlate With The American Thyroid Association And TNM Staging Systems And Predict Outcome Of Differentiated Thyroid Cancer
2023 · Noha Mukhtar, Kheloud Alhamoudi, et al. · Journal of the Endocrine Society
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Studying the effects of DNA replication stress on genome integrity and cell viability
2018 · Kheloud M. Alhamoudi · Figshare
Works count: 17
Citation count: 225
H-index: 10
I10-index: 10
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