Genomics and Translational Biomedicine

2024

ABC transporter inhibition by beauvericin partially overcomes drug resistance in Leishmania tropica

Al Khoury, C., Thoumi, S., Tokajian, S., Sinno, A., Nemer, G., El Beyrouthy, M. & Rahy, K., May 2024, In: Antimicrobial Agents and Chemotherapy. 68, 5

Research output: Contribution to journal › Article › peer-review

Open Access

1 Citation (Scopus)

Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants

The Qatar Genome Program Research Consortium, Consortium Lead Principal Investigators, Data Management and Computing Infrastructure group, Applied Bioinformatics Core, Sequencing and Genotyping group, Biobank and Sample Preparation & Qatar Genome Project Management, Nov 2024, In: European Journal of Human Genetics. 32, 11, p. 1465-1473 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

1 Citation (Scopus)

An ensemble-based machine learning model for predicting type 2 diabetes and its effect on bone health

Alsadi, B., Musleh, S., Al-Absi, H. R. H., Refaee, M., Qureshi, R., El Hajj, N. & Alam, T., 29 May 2024, In: BMC Medical Informatics and Decision Making. 24, 1, 15 p., 144.

Research output: Contribution to journal › Article › peer-review

Open Access

Bortezomib exerts its anti-cancer activity through the regulation of Skp2/p53 axis in non-melanoma skin cancer cells and C. elegans

Prabhu, K. S., Ahmad, F., Kuttikrishnan, S., Leo, R., Ali, T. A., Izadi, M., Mateo, J. M., Alam, M., Ahmad, A., Al-Shabeeb Akil, A. S., Bhat, A. A., Buddenkotte, J., Pourkarimi, E., Steinhoff, M. & Uddin, S., 9 May 2024, In: Cell Death Discovery. 10, 1, 13 p., 225.

Research output: Contribution to journal › Article › peer-review

Open Access

1 Citation (Scopus)

DiaNet v2 deep learning based method for diabetes diagnosis using retinal images

Al-Absi, H. R. H., Pai, A., Naeem, U., Mohamed, F. K., Arya, S., Sbeit, R. A., Bashir, M., El Shafei, M. M., El Hajj, N. & Alam, T., 18 Jan 2024, In: Scientific Reports. 14, 1, 11 p., 1595.

Research output: Contribution to journal › Article › peer-review

Open Access

5 Citations (Scopus)

DIAPH3 predicts survival of patients with MGMT-methylated glioblastoma

Chehade, G., El Hajj, N., Aittaleb, M., Alkailani, M. I., Bejaoui, Y., Mahdi, A., Aldaalis, A. A. H., Verbiest, M., Lelotte, J., Ruiz-Reig, N., Durá, I., Raftopoulos, C., Tajeddine, N. & Tissir, F., 22 Feb 2024, In: Frontiers in Oncology. 14, 11 p., 1359652.

Research output: Contribution to journal › Article › peer-review

Open Access

Exploring the in vivo anti-cancer potential of Neosetophomone B in leukemic cells using a zebrafish xenograft model

Kuttikrishnan, S., Hasan, M., Prabhu, K. S., El-Elimat, T., Oberlies, N. H., Pearce, C. J., Alali, F. Q., Ahmad, A., Pourkarimi, E., Bhat, A. A., Yalcin, H. C. & Uddin, S., 1 Feb 2024, In: Experimental Cell Research. 435, 1, 5 p., 113907.

Research output: Contribution to journal › Article › peer-review

1 Citation (Scopus)

Functional characterization of the SDR42E1 reveals its role in vitamin D biosynthesis

Hendi, N. N., Bengoechea-Alonso, M. T., Ericsson, J. & Nemer, G., 15 Sept 2024, In: Heliyon. 10, 17, 15 p., e36466.

Research output: Contribution to journal › Article › peer-review

Open Access

Genome-wide association study and polygenic score assessment of insulin resistance

Aliyu, U., Umlai, U.-K. I., Toor, S. M., Elashi, A. A., Al-Sarraj, Y. A., Abou-Samra, A. B., Suhre, K. & Albagha, O. M. E., 13 Jun 2024, In: Frontiers in Endocrinology. 15, 11 p., 1384103.

Research output: Contribution to journal › Article › peer-review

Genome-wide association study and trans-ethnic meta-analysis identify novel susceptibility loci for type 2 diabetes mellitus

Elashi, A. A., Toor, S. M., Umlai, U. K. I., Al-Sarraj, Y. A., Taheri, S., Suhre, K., Abou-Samra, A. B. & Albagha, O. M. E., Dec 2024, In: BMC Medical Genomics. 17, 1, 115.

Research output: Contribution to journal › Article › peer-review

Open Access

Identification of a potential DNA methyltransferase (DNMT) inhibitor

Jan, Z., Ahmed, W. S., Biswas, K. H. & Jithesh, P. V., 2024, In: Journal of Biomolecular Structure and Dynamics. 42, 9, p. 4730-4744 15 p.

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Open Access

2 Citations (Scopus)

In silico characterization of the novel SDR42E1 as a potential vitamin D modulator

Hendi, N. N. & Nemer, G., Apr 2024, In: Journal of Steroid Biochemistry and Molecular Biology. 238, 14 p., 106447.

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Open Access

2 Citations (Scopus)

Loss of the yeast transporter Agp2 upregulates the pleiotropic drug-resistant pump Pdr5 and confers resistance to the protein synthesis inhibitor cycloheximide

Manzoor, Y., Aouida, M., Ramadoss, R., Moovarkumudalvan, B., Ahmed, N., Sulaiman, A. A., Mohanty, A., Ali, R., Mifsud, B. & Ramotar, D., May 2024, In: PLoS ONE. 19, 5 May, e0303747.

Research output: Contribution to journal › Article › peer-review

Open Access

Mapping the genetic landscape of treatable inherited metabolic disorders in a large Middle Eastern biobank

Qatar Genome Program Research Consortium, Dec 2024, In: Genetics in Medicine. 26, 12, 101268.

Research output: Contribution to journal › Article › peer-review

Open Access

The genetic landscape of autism spectrum disorder in the Middle Eastern population

Al-Sarraj, Y., Taha, R. Z., Al-Dous, E., Ahram, D., Abbasi, S., Abuazab, E., Shaath, H., Habbab, W., Errafii‬, K., Bejaoui, Y., AlMotawa, M., Khattab, N., Aqel, Y. A., Shalaby, K. E., Al-Ansari, A., Kambouris, M., Abouzohri, A., Ghazal, I., Tolfat, M. & Alshaban, F. & 2 others, El-Shanti, H. & Albagha, O. M. E., 20 Mar 2024, In: Frontiers in Genetics. 15, 17 p., 1363849.

Research output: Contribution to journal › Article › peer-review

Open Access

Tryptophanyl-tRNA synthetase-1 (WARS-1) depletion and high tryptophan concentration lead to genomic instability in Caenorhabditis elegans

Izadi, M., Ali, T. A., Shurrab, F. M., Aharpour, E. & Pourkarimi, E., 4 Apr 2024, In: Cell Death Discovery. 10, 1, 15 p., 165.

Research output: Contribution to journal › Article › peer-review

Open Access

Turicibacter and Catenibacterium as potential biomarkers in autism spectrum disorders

Gerges, P., Bangarusamy, D. K., Bitar, T., Alameddine, A., Nemer, G. & Hleihel, W., 5 Oct 2024, In: Scientific Reports. 14, 1, 13 p., 23184.

Research output: Contribution to journal › Article › peer-review

Open Access

Untargeted Metabolomic Profiling Reveals Differentially Expressed Serum Metabolites and Pathways in Type 2 Diabetes Patients with and without Cognitive Decline: A Cross-Sectional Study

Al-Akl, N. S., Khalifa, O., Ponirakis, G., Parray, A., Ramadan, M., Khan, S., Chandran, M., Ayadathil, R., Elsotouhy, A., Own, A., Al Hamad, H., Decock, J., Alajez, N. M., Albagha, O., Malik, R. A., El-Agnaf, O. M. A. & Arredouani, A., Feb 2024, In: International Journal of Molecular Sciences. 25, 4, 17 p., 2247.

Research output: Contribution to journal › Article › peer-review

Open Access

2023

Accelerated epigenetic aging and DNA methylation alterations in Berardinelli–Seip congenital lipodystrophy

Qannan, A., Bejaoui, Y., Izadi, M., Yousri, N. A., Razzaq, A., Christiansen, C., Martin, G. M., Bell, J. T., Horvath, S., Oshima, J., Megarbane, A., Ericsson, J., Pourkarimi, E. & El Hajj, N., 1 Jun 2023, In: Human Molecular Genetics. 32, 11, p. 1826-1835 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

5 Citations (Scopus)

A X-linked nonsense APOO/MIC26 variant causes a lethal mitochondrial disease with progeria-like phenotypes

Peifer-Weiß, L., Kurban, M., David, C., Lubeck, M., Kondadi, A. K., Nemer, G., Reichert, A. S. & Anand, R., Dec 2023, In: Clinical Genetics. 104, 6, p. 659-668 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

7 Citations (Scopus)

Blood-Based Proteomic Profiling Identifies Potential Biomarker Candidates and Pathogenic Pathways in Dementia

Ehtewish, H., Mesleh, A., Ponirakis, G., De la Fuente, A., Parray, A., Bensmail, I., Abdesselem, H., Ramadan, M., Khan, S., Chandran, M., Ayadathil, R., Elsotouhy, A., Own, A., Al Hamad, H., Abdelalim, E. M., Decock, J., Alajez, N. M., Albagha, O., Thornalley, P. J. & Arredouani, A. & 2 others, Malik, R. A. & El-Agnaf, O. M. A., May 2023, In: International Journal of Molecular Sciences. 24, 9, 8117.

Research output: Contribution to journal › Article › peer-review

Open Access

5 Citations (Scopus)

Blood Proteomics Analysis Reveals Potential Biomarkers and Convergent Dysregulated Pathways in Autism Spectrum Disorder: A Pilot Study

Mesleh, A., Ehtewish, H., de la Fuente, A., Al-shamari, H., Ghazal, I., Al-Faraj, F., Al-Shaban, F., Abdesselem, H. B., Emara, M., Alajez, N. M., Arredouani, A., Decock, J., Albagha, O., Stanton, L. W., Abdulla, S. A. & El-Agnaf, O. M. A., Apr 2023, In: International Journal of Molecular Sciences. 24, 8, 7443.

Research output: Contribution to journal › Article › peer-review

Open Access

BRCA1-specific machine learning model predicts variant pathogenicity with high accuracy

Khandakji, M., Habish, H. H. A., Abdulla, N. B. S., Kusasi, S. A. A., Abdou, N. M. G., Al-Mulla, H. M. M. A., Al Sulaiman, R. J. A. A., Jassoum, S. M. B. & Mifsud, B., Aug 2023, In: Physiological Genomics. 55, 8, p. 315-323 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

2 Citations (Scopus)

Circulating MicroRNA Profiling Identifies Distinct MicroRNA Signatures in Acute Ischemic Stroke and Transient Ischemic Attack Patients

Toor, S. M., Aldous, E. K., Parray, A., Akhtar, N., Al-Sarraj, Y., Abdelalim, E. M., Arredouani, A., El-Agnaf, O., Thornalley, P. J., Pananchikkal, S. V., Pir, G. J., Ayadathil, R., Shuaib, A., Alajez, N. M. & Albagha, O. M. E., Jan 2023, In: International Journal of Molecular Sciences. 24, 1, 14 p., 108.

Research output: Contribution to journal › Article › peer-review

Open Access

11 Citations (Scopus)

Consanguinity rates among Syrian refugees in Lebanon: a study on genetic awareness - CORRIGENDUM

El Sabeh, M., Kassir, M. F., Ghanem, P., Saifi, O., El Hadi, D., Khalifeh, Y., Akkawi, A. R., Ghabach, M., Chaaya, M., Nemer, G., Abbas, O. & Kurban, M., 1 May 2023, In: Journal of Biosocial Science. 55, 3, p. 592 1 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations

The Qatar Genome Program Research Consortium, 2023, In: Human Molecular Genetics. 32, 6, p. 907-916 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

14 Citations (Scopus)

DNA methylation profiling in Trisomy 21 females with and without breast cancer

Bejaoui, Y., Alresheq, S., Durand, S., Vilaire-Meunier, M., Maillebouis, L., Zen, A. A. H., Mégarbané, A. & Hajj, N. E., 2023, In: Frontiers in Oncology. 13, 1203483.

Research output: Contribution to journal › Article › peer-review

Open Access

1 Citation (Scopus)

Epigenetic age acceleration in surviving versus deceased COVID-19 patients with acute respiratory distress syndrome following hospitalization

Bejaoui, Y., Amanullah, F. H., Saad, M., Taleb, S., Bradic, M., Megarbane, A., Hssain, A. A., Khalil, C. A. & El Hajj, N., 28 Nov 2023, In: Clinical Epigenetics. 15, 1, 11 p., 186.

Research output: Contribution to journal › Article › peer-review

8 Citations (Scopus)

Genetic architecture of spatial electrical biomarkers for cardiac arrhythmia and relationship with cardiovascular disease

Young, W. J., Haessler, J., Benjamins, J. W., Repetto, L., Yao, J., Isaacs, A., Harper, A. R., Ramirez, J., Garnier, S., van Duijvenboden, S., Baldassari, A. R., Concas, M. P., Duong, T. V., Foco, L., Isaksen, J. L., Mei, H., Noordam, R., Nursyifa, C., Richmond, A. & Santolalla, M. L. & 74 others, Sitlani, C. M., Soroush, N., Thériault, S., Trompet, S., Aeschbacher, S., Ahmadizar, F., Alonso, A., Brody, J. A., Campbell, A., Correa, A., Darbar, D., De Luca, A., Deleuze, J. F., Ellervik, C., Fuchsberger, C., Goel, A., Grace, C., Guo, X., Hansen, T., Heckbert, S. R., Jackson, R. D., Kors, J. A., Lima-Costa, M. F., Linneberg, A., Macfarlane, P. W., Morrison, A. C., Navarro, P., Porteous, D. J., Pramstaller, P. P., Reiner, A. P., Risch, L., Schotten, U., Shen, X., Sinagra, G., Soliman, E. Z., Stoll, M., Tarazona-Santos, E., Tinker, A., Trajanoska, K., Villard, E., Warren, H. R., Whitsel, E. A., Wiggins, K. L., Arking, D. E., Avery, C. L., Conen, D., Girotto, G., Grarup, N., Hayward, C., Jukema, J. W., Mook-Kanamori, D. O., Olesen, M. S., Padmanabhan, S., Psaty, B. M., Pattaro, C., Ribeiro, A. L. P., Rotter, J. I., Stricker, B. H., van der Harst, P., van Duijn, C. M., Verweij, N., Wilson, J. G., Orini, M., Charron, P., Watkins, H., Kooperberg, C., Lin, H. J., Wilson, J. F., Kanters, J. K., Sotoodehnia, N., Mifsud, B., Lambiase, P. D., Tereshchenko, L. G. & Munroe, P. B., 14 Mar 2023, In: Nature Communications. 14, 1, 16 p., 1411.

Research output: Contribution to journal › Article › peer-review

Open Access

5 Citations (Scopus)

Genetic determinants of Vitamin D deficiency in the Middle Eastern Qatari population: a genome-wide association study

Hendi, N. N., Al-Sarraj, Y., Ismail Umlai, U.-K., Suhre, K., Nemer, G. & Albagha, O., 29 Sept 2023, In: Frontiers in Nutrition. 10, 10 p., 1242257.

Research output: Contribution to journal › Article › peer-review

1 Citation (Scopus)

Genome-wide association study identifies genetic variants which predict the response of bone mineral density to teriparatide therapy

Alonso, N., Albagha, O. M. E., Azfer, A., Larraz-Prieto, B., Berg, K., Riches, P. L., Ostanek, B., Kocjan, T., Marc, J., Langdahl, B. L. & Ralston, S. H., 1 Jul 2023, In: Annals of the Rheumatic Diseases. 82, 7, p. 985-991 7 p.

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Open Access

2 Citations (Scopus)

Genome-wide association study identifies several loci for HEV seropositivity

Smatti, M. K., Al-Sarraj, Y. A., Albagha, O. & Yassine, H. M., 15 Sept 2023, In: iScience. 26, 9, 107586.

Research output: Contribution to journal › Article › peer-review

Open Access

1 Citation (Scopus)

High-throughput autoantibody screening identifies differentially abundant autoantibodies in autism spectrum disorder

Mesleh, A., Ehtewish, H., Lennard, K., Abdesselem, H. B., Al-Shaban, F., Decock, J., Alajez, N. M., Arredouani, A., Emara, M. M., Albagha, O., Stanton, L. W., Abdulla, S. A., Blackburnand, J. M. & El-Agnaf, O. M. A., 2023, In: Frontiers in Molecular Neuroscience. 16, 1222506.

Research output: Contribution to journal › Article › peer-review

Open Access

2 Citations (Scopus)

Identification of PCSK9-like human gene knockouts using metabolomics, proteomics, and whole-genome sequencing in a consanguineous population

The Qatar Genome Program Research Consortium, 11 Jan 2023, In: Cell Genomics. 3, 1, 100218.

Research output: Contribution to journal › Article › peer-review

Open Access

5 Citations (Scopus)

Identification of two novel autism genes, TRPC4 and SCFD2, in Qatar simplex families through exome sequencing

Gupta, V., Ben-Mahmoud, A., Ku, B., Velayutham, D., Jan, Z., Yousef Aden, A., Kubbar, A., Alshaban, F., Stanton, L. W., Jithesh, P. V., Layman, L. C. & Kim, H. G., 2023, In: Frontiers in Psychiatry. 14, 1251884.

Research output: Contribution to journal › Article › peer-review

Open Access

3 Citations (Scopus)

Integrated epigenome, whole genome sequence and metabolome analyses identify novel multi-omics pathways in type 2 diabetes: a Middle Eastern study

Yousri, N. A., Albagha, O. M. E. & Hunt, S. C., Dec 2023, In: BMC Medicine. 21, 1, 347.

Research output: Contribution to journal › Article › peer-review

Open Access

4 Citations (Scopus)

Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk

The Qatar Genome Program Research (QGPR) Consortium, Biobank and Sample Preparation, Sequencing and Genotyping group, Applied Bioinformatics Core, Data Management and Computing Infrastructure group, Consortium Lead Principal Investigators & China Kadoorie Biobank Collaborative Group, Mar 2023, In: Nature Genetics. 55, 3, p. 410-422 13 p.

Research output: Contribution to journal › Article › peer-review

Open Access

44 Citations (Scopus)

Multi-omics and machine learning reveal context-specific gene regulatory activities of PML::RARA in acute promyelocytic leukemia

Villiers, W., Kelly, A., He, X., Kaufman-Cook, J., Elbasir, A., Bensmail, H., Lavender, P., Dillon, R., Mifsud, B. & Osborne, C. S., 9 Feb 2023, In: Nature Communications. 14, 1, 17 p., 724.

Research output: Contribution to journal › Article › peer-review

Open Access

8 Citations (Scopus)

Profiling the autoantibody repertoire reveals autoantibodies associated with mild cognitive impairment and dementia

Ehtewish, H., Mesleh, A., Ponirakis, G., Lennard, K., Al Hamad, H., Chandran, M., Parray, A., Abdesselem, H., Wijten, P., Decock, J., Alajez, N. M., Ramadan, M., Khan, S., Ayadathil, R., Own, A., Elsotouhy, A., Albagha, O., Arredouani, A., Blackburn, J. M. & Malik, R. A. & 1 others, El-Agnaf, O. M. A., 2023, In: Frontiers in Neurology. 14, 1256745.

Research output: Contribution to journal › Article › peer-review

Open Access

1 Citation (Scopus)

Protegrin-2, a potential inhibitor for targeting SARS-CoV-2 main protease M^pro

Jan, Z., Geethakumari, A. M., Biswas, K. H. & Jithesh, P. V., Jan 2023, In: Computational and Structural Biotechnology Journal. 21, p. 3665-3671 7 p.

Research output: Contribution to journal › Article › peer-review

Open Access

5 Citations (Scopus)

Report on a Case with Moreno-Nishimura-Schmidt Overgrowth Syndrome: A Clinically Delineated Disease Yet of an Unknown Origin!

Mehawej, C., Chouery, E., Al Hage Chehade, G., Bejaoui, Y., Mahfoud, D., Gerges, M., Delague, V., El Hajj, N. & Megarbane, A., 1 Jun 2023, In: Molecular Syndromology. 14, 3, p. 219-224 6 p.

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Open Access

1 Citation (Scopus)

Ribosomal DNA Copy Number Variation is Coupled with DNA Methylation Changes at the 45S rDNA Locus

Razzaq, A., Bejaoui, Y., Alam, T., Saad, M. & El Hajj, N., 2023, In: Epigenetics. 18, 1, 2229203.

Research output: Contribution to journal › Article › peer-review

Open Access

4 Citations (Scopus)

The Genetic Architecture of Vitamin D Deficiency among an Elderly Lebanese Middle Eastern Population: An Exome-Wide Association Study

Hendi, N. N., Chakhtoura, M., Al-Sarraj, Y., Basha, D. S., Albagha, O., Fuleihan, G. E. H. & Nemer, G., Jul 2023, In: Nutrients. 15, 14, 3216.

Research output: Contribution to journal › Article › peer-review

Open Access

2 Citations (Scopus)

The Genetic Spectrum of Maturity-Onset Diabetes of the Young (MODY) in Qatar, a Population-Based Study

Elashi, A. A., Toor, S. M., Diboun, I., Al-Sarraj, Y., Taheri, S., Suhre, K., Abou-Samra, A. B. & Albagha, O. M. E., Jan 2023, In: International Journal of Molecular Sciences. 24, 1, 13 p., 130.

Research output: Contribution to journal › Article › peer-review

Open Access