Malak Alghamdi
Malak Alghamdi
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Cited by
Lessons learned from large-scale, first-tier clinical exome sequencing in a highly consanguineous population
D Monies, M Abouelhoda, M Assoum, N Moghrabi, R Rafiullah, ...
The American Journal of Human Genetics 104 (6), 1182-1201, 2019
JAK inhibitor therapy in a child with inherited USP18 deficiency
F Alsohime, M Martin-Fernandez, MH Temsah, M Alabdulhafid, ...
New England Journal of Medicine 382 (3), 256-265, 2020
Inflammatory bowel disease: an evaluation of health information on the internet
SA Azer, TI AlOlayan, MA AlGhamdi, MA AlSanea
World Journal of Gastroenterology 23 (9), 1676, 2017
Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders
AM Bertoli-Avella, KK Kandaswamy, S Khan, N Ordonez-Herrera, ...
Genetics in Medicine 23 (8), 1551-1568, 2021
Phenotypic and molecular spectrum of pyridoxamine‐5′‐phosphate oxidase deficiency: a scoping review of 87 cases of pyridoxamine‐5′‐phosphate oxidase deficiency
M Alghamdi, FA Bashiri, M Abdelhakim, N Adly, DZ Jamjoom, KM Sumaily, ...
Clinical Genetics 99 (1), 99-110, 2021
The phenotype and outcome of infantile cardiomyopathy caused by a homozygous ELAC2 mutation
Z Shinwari, A Almesned, A Alakhfash, AM Al-Rashdan, E Faqeih, ...
Cardiology 137 (3), 188-192, 2017
Categorized genetic analysis in childhood-onset cardiomyopathy
ZN Al-Hassnan, A Almesned, S Tulbah, A Alakhfash, F Alhadeq, ...
Circulation: Genomic and Precision Medicine 13 (5), 504-514, 2020
A Novel Biallelic STING1 Gene Variant Causing SAVI in Two Siblings
MA Alghamdi, J Mulla, N Saheb Sharif-Askari, FJ Guzmán-Vega, ST Arold, ...
Frontiers in Immunology 11, 599564, 2021
The leukodystrophy spectrum in Saudi Arabia: epidemiological, clinical, radiological, and genetic data
M Alfadhel, M Almuqbil, F Al Mutairi, M Umair, M Almannai, M Alghamdi, ...
Frontiers in Pediatrics 9, 633385, 2021
Expanding the phenotype and the genotype of Stromme syndrome: A novel variant of the CENPF gene and literature review
M Alghamdi, WH Alkhamis, FA Bashiri, D Jamjoom, G Al-Nafisah, A Tahir, ...
European Journal of Medical Genetics 63 (5), 103844, 2020
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
N Himmelreich, M Bertoldi, M Alfadhel, MA Alghamdi, Y Anikster, X Bao, ...
Molecular Genetics and Metabolism 139 (3), 107624, 2023
Diversity of phenotype and genetic etiology of 23 cystinuria Saudi patients: a retrospective study
M Alghamdi, KA Alhasan, A Taha Elawad, S Salim, M Abdelhakim, ...
Frontiers in Pediatrics 8, 569389, 2020
Effect of common medications on the expression of SARS-CoV-2 entry receptors in liver tissue
NS Sharif-Askari, FS Sharif-Askari, B Mdkhana, S Al Heialy, E Ratemi, ...
Archives of Toxicology 94 (12), 4037, 2020
Molecular autopsy by proxy in preconception counseling
M Ali Alghamdi, A Alrasheedi, E Alghamdi, N Adly, WY AlAali, ...
Clinical Genetics 100 (6), 678-691, 2021
Clinical and Genetic characterization of craniosynostosis in Saudi Arabia
M Alghamdi, TR Alhumsi, I Altweijri, WH Alkhamis, O Barasain, ...
Frontiers in Pediatrics 9, 582816, 2021
Biallelic loss‐of‐function HACD1 variants are a bona fide cause of congenital myopathy
L Abbasi‐Moheb, A Westenberger, M Alotaibi, MA Alghamdi, JL Hertecant, ...
Clinical Genetics 99 (4), 513-518, 2021
Unusual Prominent Pulmonary Involvement in a Homozygous PRF1 Gene Variant in a Female Patient
F Alsohime, T Almaghamsi, TA Basha, H Alardati, M Alghamdi, ...
Journal of clinical immunology 41, 217-220, 2021
A novel TBX1 variant causing hypoparathyroidism and deafness
M Alghamdi, R Al Khalifah, DK Al Homyani, WH Alkhamis, ST Arold, ...
Journal of the Endocrine Society 4 (2), bvz028, 2020
Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome
EA Faqeih, MA Alghamdi, MA Almahroos, E Alharby, M Almuntashri, ...
Genetics in Medicine 25 (2), 100323, 2023
Clinical and molecular characterization of a large primary hyperoxaluria cohort from Saudi Arabia: a retrospective study
M Alfadhel, M Umair, MA Alghamdi, K Al Fakeeh, AT Al Qahtani, ...
Pediatric Nephrology 38 (6), 1801-1810, 2023
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