خالد علي فخرو، PhD

منشورات مختارة:

• Rare variants in PCSK9, APOB and LDLR associated with LDL Cholsterol and Familial Hypercholesterolemia in a large Middle Eastern biobank. J Transl Med. 2022 Nov 3; 20(1):502. PubMed
• Genomic Architecture of Autism From Comprehensive Whole-Genome Sequence Annotation. Cell. 2022 Nov 10;185(23):4409-4427.e18. PubMed
• A novel homozygous variant in homologous recombination repair gene ZSWIM7 causes azoospermia in males and primary ovarian insufficiency in females. Eur J Med Genet. 2022 Oct 3:104629. PubMed
• Transcriptome Profile Identifies Actin as an Essential Regulator of Cardiac Myosin Binding Protein C3 Hypertrophic Cardiomyopathy in a Zebrafish Model. Int J Mol Sci. 2022 Aug 9;23(16):8840. PubMed
• GA4GH: International policies and standards for data sharing across genomic research and healthcare. Cell Genomics 2021 Nov 10;1(2):100029. PubMed
• Metabolic and Metabo-Clinical Signatures of T2D, Obesity, Retinopathy and Dyslipidemia. Diabetes 2021 Nov 3:db210490. PubMed
• Genomic medicine in the Middle East. Genome Med. 2021 Nov 23;13(1):184. PubMed
• Thousands of Qatari genomes inform human migration history and improve imputation of Arab haplotypes. Nat Commun. 2021 Oct 12;12(1):5929. PubMed
• Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy. Brain. 2021 Oct 4:369:909-924. PubMed
• Patterns and distribution of de novo mutations in multiplex Middle Eastern families. J Hum Genet. 2022 Oct;67(10):579-588. PubMed
• A recessive variant in SIM2 in a child with complex craniofacial anomalies and global developmental delay. Eur J Med Genet. 2022 Apr;65(4):104455. PubMed
• Identification of mutation resistance coldspots for targeting the SARS-CoV2 main protease. IUBMB Life. 2021 Apr;73(4):670-675 [Issue Cover] PubMed
• An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy. Brain. 2021 Mar 3;144(2):584-600. PubMed
• Ethnic-specific association of adiposity traits to amylase gene copy number in a large Middle Eastern biobank. NPJ Genom Med. 2021. Feb 9; 6(1):8. PubMed
• Genomics of Autism. Adv Neurobiol. 2020; 24:83-96. PubMed
• Point of Care Exome Sequencing Reveals Allelic and Phenotypic Heterogeneity Underlying Mendelian disease in Qatar. Hum Mol Genet. 2019 Dec1;28(23):3970-3981. PubMed
• Point-of-care whole-exome sequencing of idiopathic male infertility. Genet Med. 2018 Nov;20(11):1365-1373. PubMed
• Whole-exome sequencing identifies common and rare variant metabolic QTLs in a Middle Eastern population. Nat Communications. 2018 Jan 23;9(1):333. PubMed
• The Qatar genome: a population-specific tool for precision medicine in the Middle East. Hum Genome Var. 2016 Jun 30;3:16016. PubMed
• Copy number variations in the genome of the Qatari population. BMC Genomics. 2015 Oct 22;16:834. PubMed