• ORCID: 0000-0002-8522-0445 │Scopus: 36682267500
• M.Sc. in Molecular, cellular and Structural Biology, Université de Lorraine, France.
• PhD in Human Genetics, Université de Lorraine, France.
• 2-year postdoctoral fellowship, Institut de la Vision, Sorbonne Université, Pierre et Marie Curie, Paris, France.
• Published 83 articles in journals; American Journal of Human Genetics, European Journal of Human Genetics, Human Molecular Genetics, PLoS ONE, Genes, Orphanet Journal of Rare diseases, Frontiers in Genetics, and BMC Medical Genetics.
• Co-inventor of the patent WO2013093091.
• Member of the editorial board of BMC Medical Genomics, Frontiers in Bioscience-Landmark, Frontiers in Genetics.
• Team Leader and member of the steering committee of the EU funded Erasmus+ OPPM (100K$, 3 years).

1: Colombo L, Maltese PE, Castori M, El Shamieh S, Zeitz C, Audo I, Zulian A, Marinelli C, Benedetti S, Costantini A, Bressan S, Percio M, Ferri P, Abeshi A, Bertelli M, Rossetti L. Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome. Invest Ophthalmol Vis Sci. 2021 Feb 1;62(2):13. doi: 10.1167/iovs.62.2.13. PMID: 33576794.

2: Ibrahim M, Jaffal L, Assi A, Helou C, El Shamieh S. ABCA4-related retinopathies in Lebanon. Heliyon. 2024 Apr 26;10(9):e30304. doi: 10.1016/j.heliyon.2024.e30304. PMID: 38694055; PMCID: PMC11061736.

3: Jaffal L, Mrad Z, Ibrahim M, Salami A, Audo I, Zeitz C, El Shamieh S. The research output of rod-cone dystrophy genetics. Orphanet J Rare Dis. 2022 Apr 23;17(1):175. doi: 10.1186/s13023-022-02318-5. PMID: 35461258.

4: Audo I, Mohand-Said S, Boulanger-Scemama E, Zanlonghi X, Condroyer C, Démontant V, Boyard F, Antonio A, Méjécase C, El Shamieh S, Sahel JA, Zeitz C. MERTK mutation update in inherited retinal diseases. Hum Mutat. 2018 Jul;39(7):887-913. doi: 10.1002/humu.23431. Epub 2018 May 23. PMID: 29659094.

5: El Shamieh S, Maltese PE. Editorial: The genetics of inherited retinal diseases in understudied ethnic groups: Novel associations, challenges, and perspectives. Front Genet. 2022 Aug 23;13:990782. doi: 10.3389/fgene.2022.990782. PMID: 36081992; PMCID: PMC9445133.

6: El Ghoch M, El Shamieh S. Is There a Link Between Nutrition, Genetics, and Cardiovascular Disease? J Cardiovasc Dev Dis. 2020 Aug 27;7(3):33. doi: 10.3390/jcdd7030033. PMID: 32867398; PMCID: PMC7570096.

7: El Shamieh S, Chebly A. Trends in scientific publishing: does quantity compromise quality in life sciences and medicine? Syst Rev. 2024 Oct 1;13(1):249. doi: 10.1186/s13643-024-02668-0. PMID: 39354621; PMCID: PMC11443745.

8: Zeitz C, Navarro J, Azizzadeh Pormehr L, Méjécase C, Neves LM, Letellier C, Condroyer C, Albadri S, Amprou A, Antonio A, Ben-Yacoub T, Wohlschlegel J, Andrieu C, Serafini M, Bianco L, Antropoli A, Nassisi M, El Shamieh S, Chantot- Bastaraud S, Mohand-Saïd S, Smirnov V, Sahel JA, Del Bene F, Audo I. Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy. Genet Med. 2024 Jun;26(6):101081. doi: 10.1016/j.gim.2024.101081. Epub 2024 Jan 28. PMID: 38293907.

9: Ndiaye NC, Azimi Nehzad M, El Shamieh S, Stathopoulou MG, Visvikis-Siest S. Cardiovascular diseases and genome-wide association studies. Clin Chim Acta. 2011 Sep 18;412(19-20):1697-701. doi: 10.1016/j.cca.2011.05.035. Epub 2011 Jun 7. PMID: 21672533.

10: Khachab Y, El Shamieh S, Sokhn ES. Gram-negative bacterial colonization in the gut: Isolation, characterization, and identification of resistance mechanisms. J Infect Public Health. 2024 Oct;17(10):102535. doi: 10.1016/j.jiph.2024.102535. Epub 2024 Aug 30. PMID: 39216133.

11: Zeitz C, Nassisi M, Laurent-Coriat C, Andrieu C, Boyard F, Condroyer C, Démontant V, Antonio A, Lancelot ME, Frederiksen H, Kloeckener-Gruissem B, El- Shamieh S, Zanlonghi X, Meunier I, Roux AF, Mohand-Saïd S, Sahel JA, Audo I. CHM mutation spectrum and disease: An update at the time of human therapeutic trials. Hum Mutat. 2021 Apr;42(4):323-341. doi: 10.1002/humu.24174. Epub 2021 Feb 19. PMID: 33538369.

12: Jaffal L, Ibrahim M, El Shamieh S. Analysis of rod-cone dystrophy genes reveals unique mutational patterns. BMJ Open Sci. 2022 Dec 13;6(1):e100291. doi: 10.1136/bmjos-2022-100291. PMID: 36618607; PMCID: PMC9812813.

13: El Shamieh S, Visvikis-Siest S. Genetic biomarkers of hypertension and future challenges integrating epigenomics. Clin Chim Acta. 2012 Dec 24;414:259-65. doi: 10.1016/j.cca.2012.09.018. Epub 2012 Sep 23. PMID: 23010416.

14: Jaffal L, Joumaa H, Mrad Z, Zeitz C, Audo I, El Shamieh S. The genetics of rod-cone dystrophy in Arab countries: a systematic review. Eur J Hum Genet. 2021 Jun;29(6):897-910. doi: 10.1038/s41431-020-00754-0. Epub 2020 Nov 13. PMID: 33188265; PMCID: PMC8187393.

15: El Shamieh S, Zgheib NK. Pharmacogenetics in developing countries and low resource environments. Hum Genet. 2022 Jun;141(6):1159-1164. doi: 10.1007/s00439-021-02260-9. Epub 2021 Feb 9. PMID: 33564904.

16: Bissar N, Kassir R, Salami A, El Shamieh S. Association of immunity-related gene SNPs with Alzheimer's disease. Exp Biol Med (Maywood). 2024 Nov 22;249:10303. doi: 10.3389/ebm.2024.10303. PMID: 39651329; PMCID: PMC11620869.

17: Banjak M, Noureldine J, Mousawi Z, Nehme J, Jaffal L, El Shamieh S. Systematic review of genotype-phenotype associations in CRX-associated retinal dystrophies. BMJ Open Ophthalmol. 2025 Mar 25;10(1):e002030. doi: 10.1136/bmjophth-2024-002030. PMID: 40132901; PMCID: PMC11938251.

18: Daher A, Banjak M, Noureldine J, Nehme J, El Shamieh S. Genotype-phenotype associations in CRB1 bi-allelic patients: a novel mutation, a systematic review and meta-analysis. BMC Ophthalmol. 2024 Apr 15;24(1):167. doi: 10.1186/s12886-024-03419-4. PMID: 38622537; PMCID: PMC11017593.

19: Bianco L, Navarro J, Michiels C, Sangermano R, Condroyer C, Antonio A, Antropoli A, Andrieu C, Place EM, Pierce EA, El Shamieh S, Smirnov V, Kalatzis V, Mansard L, Roux AF, Bocquet B, Sahel JA, Meunier I, Bujakowska KM, Audo I, Zeitz C. Identification of IDH3G, encoding the gamma subunit of mitochondrial isocitrate dehydrogenase, as a novel candidate gene for X-linked retinitis pigmentosa. Genet Med. 2025 Jun;27(6):101418. doi: 10.1016/j.gim.2025.101418. Epub 2025 Mar 19. PMID: 40119724.

20: Fakhoury HMA, El Shamieh S, Rifai A, Tamim H, Fakhoury R. Vitamin D Related Gene Polymorphisms and Cholesterol Levels in a Mediterranean Population. JCardiovasc Dev Dis. 2022 Mar 27;9(4):102. doi: 10.3390/jcdd9040102. PMID: 35448078; PMCID: PMC9028837.

21: Maltese PE, Colombo L, Martella S, Rossetti L, El Shamieh S, Sinibaldi L, Passarelli C, Coppè AM, Buzzonetti L, Falsini B, Chiurazzi P, Placidi G, Tanzi B, Bertelli M, Iarossi G. Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals. Front Genet. 2022 Jun 28;13:914345. doi: 10.3389/fgene.2022.914345. PMID: 35836572; PMCID: PMC9274138.

22: Salem-Sokhn E, Salami A, Fawaz M, Eid AH, El Shamieh S. Helicobacter Pylori Interacts with Serum Vitamin D to Influence Hypertension. Curr Aging Sci. 2021;14(1):26-31. doi: 10.2174/1874609813666200925104248. PMID: 32981515.

23: Rancier M, Zaaber I, Stathopoulou MG, Chatelin J, Saleh A, Marmouch H, El Shamieh S, Masson C, Murray H, Lamont J, Fitzgerald P, Mahjoub S, Said K, Tensaout BB, Mestiri S, Visvikis-Siest S. Pro- and anti-angiogenic VEGF mRNAs in autoimmune thyroid diseases. Autoimmunity. 2016 Sep;49(6):366-372. doi: 10.1080/08916934.2016.1199019. Epub 2016 Aug 5. PMID: 27494076.

24: Nivet-Antoine V, Labat C, El Shamieh S, Dulcire X, Cottart CH, Beaudeux JL, Zannad F, Visvikis-Siest S, Benetos A. Relationship between catalase haplotype and arterial aging. Atherosclerosis. 2013 Mar;227(1):100-5. doi: 10.1016/j.atherosclerosis.2012.12.015. Epub 2013 Jan 8. PMID: 23340375.

25: Méjécase C, Hummel A, Mohand-Saïd S, Andrieu C, El Shamieh S, Antonio A, Condroyer C, Boyard F, Foussard M, Blanchard S, Letexier M, Saraiva JP, Sahel JA, Zeitz C, Audo I. Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy. Clin Genet. 2019 Feb;95(2):329-333. doi: 10.1111/cge.13453. Epub 2018 Nov 4. PMID: 30267408.

26: Kikuchi S, Kameya S, Gocho K, El Shamieh S, Akeo K, Sugawara Y, Yamaki K, Zeitz C, Audo I, Takahashi H. Cone dystrophy in patient with homozygous RP1L1 mutation. Biomed Res Int. 2015;2015:545243. doi: 10.1155/2015/545243. Epub 2015 Jan 29. PMID: 25692141; PMCID: PMC4322316.

27: Naja K, El Shamieh S, Fakhoury R. rs622342A>C in SLC22A1 is associated with metformin pharmacokinetics and glycemic response. Drug Metab Pharmacokinet. 2020 Feb;35(1):160-164. doi: 10.1016/j.dmpk.2019.10.007. Epub 2019 Nov 1. PMID:31974043.

28: El Shamieh S, Costanian C, Kassir R, Visvkis-Siest S, Bissar-Tadmouri N. APOE genotypes in Lebanon: distribution and association with hypercholesterolemia and Alzheimer's disease. Per Med. 2019 Jan;16(1):15-23. doi: 10.2217/pme-2018-0067. Epub 2018 Nov 20. PMID: 30457419.

29: Masri I, Salami A, El Shamieh S, Bissar-Tadmouri N. rs3851179G>A in PICALM is Protective Against Alzheimer's Disease in Five Different Countries Surrounding the Mediterranean. Curr Aging Sci. 2020;13(2):162-168. doi: 10.2174/1874609812666191019143237. PMID: 31648652.

30: Jaffal L, Joumaa WH, Assi A, Helou C, Condroyer C, El Dor M, Cherfan G, Zeitz C, Audo I, Zibara K, El Shamieh S. Novel Missense Mutations in BEST1 Are Associated with Bestrophinopathies in Lebanese Patients. Genes (Basel). 2019 Feb 18;10(2):151. doi: 10.3390/genes10020151. PMID: 30781664;PMCID: PMC6409913.

31: Chedid P, Salami A, Ibrahim M, Visvikis-Siest S, El Shamieh S. The association of vascular endothelial growth factor related SNPs and circulating iron levels might depend on body mass index. Front Biosci (Landmark Ed). 2022 Jan 18;27(1):27. doi: 10.31083/j.fbl2701027. PMID: 35090332.

32: Chedid P, Salami A, El Shamieh S. The Association of rs1898830 in Toll- Like Receptor 2 with Lipids and Blood Pressure. J Cardiovasc Dev Dis. 2020 Jul 8;7(3):24. doi: 10.3390/jcdd7030024. PMID: 32650372; PMCID: PMC7569770.

33: Neuillé M, El Shamieh S, Orhan E, Michiels C, Antonio A, Lancelot ME, Condroyer C, Bujakowska K, Poch O, Sahel JA, Audo I, Zeitz C. Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB). PLoS One. 2014 Mar 5;9(3):e90342. doi: 10.1371/journal.pone.0090342. PMID: 24598786; PMCID: PMC3943948.

34: Smirnov VM, Nassisi M, Solis Hernandez C, Méjécase C, El Shamieh S, Condroyer C, Antonio A, Meunier I, Andrieu C, Defoort-Dhellemmes S, Mohand-Said S, Sahel JA, Audo I, Zeitz C. Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa Cohort. JAMA Ophthalmol. 2021 Mar 1;139(3):278-291. doi:10.1001/jamaophthalmol.2020.6089. Erratum in: JAMA Ophthalmol. 2021 Dec 1;139(12):1324.

35: Nzietchueng R, El Shamieh S, Benachour H, Labat C, Herbeth B, Ndiaye NC, Masson C, Visvikis-Siest S, Benetos A. Klotho KL-VS genotype is involved in blood pressure regulation. Clin Chim Acta. 2011 Sep 18;412(19-20):1773-7. doi: 10.1016/j.cca.2011.05.032. Epub 2011 Jun 1. PMID: 21663735.

36: Jaffal L, Akhdar H, Joumaa H, Ibrahim M, Chhouri Z, Assi A, Helou C, Lee H, Seo GH, Joumaa WH, El Shamieh S. Novel Missense and Splice Site Mutations in USH2A, CDH23, PCDH15, and ADGRV1 Are Associated With Usher Syndrome in Lebanon. Front Genet. 2022 May 16;13:864228. doi: 10.3389/fgene.2022.864228. PMID: 35651951; PMCID: PMC9149366.

37: Mangino M, Hwang SJ, Spector TD, Hunt SC, Kimura M, Fitzpatrick AL, Christiansen L, Petersen I, Elbers CC, Harris T, Chen W, Srinivasan SR, Kark JD, Benetos A, El Shamieh S, Visvikis-Siest S, Christensen K, Berenson GS, Valdes AM, Viñuela A, Garcia M, Arnett DK, Broeckel U, Province MA, Pankow JS, Kammerer C, Liu Y, Nalls M, Tishkoff S, Thomas F, Ziv E, Psaty BM, Bis JC, Rotter JI, Taylor KD, Smith E, Schork NJ, Levy D, Aviv A. Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans. Hum Mol Genet. 2012 Dec 15;21(24):5385-94. doi: 10.1093/hmg/dds382. Epub 2012 Sep 21. PMID: 23001564; PMCID: PMC3510758.

38: Stathopoulou MG, Monteiro P, Shahabi P, Peñas-Lledó E, El Shamieh S, Silva Santos L, Thilly N, Siest G, Llerena A, Visvikis-Siest S. Newly identified synergy between clopidogrel and calcium-channel blockers for blood pressure regulation possibly involves CYP2C19 rs4244285. Int J Cardiol. 2013 Oct 3;168(3):3057-8. doi: 10.1016/j.ijcard.2013.04.097. Epub 2013 May 3. PMID: 23643422.

39: Méjécase C, Mohand-Saïd S, El Shamieh S, Antonio A, Condroyer C, Blanchard S, Letexier M, Saraiva JP, Sahel JA, Audo I, Zeitz C. A novel nonsense variant in REEP6 is involved in a sporadic rod-cone dystrophy case. Clin Genet. 2018 Mar;93(3):707-711. doi: 10.1111/cge.13171. PMID: 29120066.

40: Jaffal L, Joumaa WH, Assi A, Helou C, Cherfan G, Zibara K, Audo I, Zeitz C, El Shamieh S. Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet-Biedl and Usher Syndromes. Genes (Basel). 2019 Dec 16;10(12):1047. doi: 10.3390/genes10121047. PMID: 31888296; PMCID: PMC6947157.

41: El Shamieh S, Neuillé M, Terray A, Orhan E, Condroyer C, Démontant V, Michiels C, Antonio A, Boyard F, Lancelot ME, Letexier M, Saraiva JP, Léveillard T, Mohand-Saïd S, Goureau O, Sahel JA, Zeitz C, Audo I. Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy. Am J Hum Genet. 2014 Apr 3;94(4):625-33. doi:10.1016/j.ajhg.2014.03.005. Epub 2014 Mar 27. PMID: 24680887; PMCID: PMC3980423.

42: Audo I, Bujakowska K, Orhan E, El Shamieh S, Sennlaub F, Guillonneau X, Antonio A, Michiels C, Lancelot ME, Letexier M, Saraiva JP, Nguyen H, Luu TD, Léveillard T, Poch O, Dollfus H, Paques M, Goureau O, Mohand-Saïd S, Bhattacharya SS, Sahel JA, Zeitz C. The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family. Hum Mol Genet. 2014 Jan 15;23(2):491-501. doi: 10.1093/hmg/ddt439. Epub 2013 Sep 10. PMID: 24026677.

43: Salami A, El Shamieh S. Association between SNPs of Circulating Vascular Endothelial Growth Factor Levels, Hypercholesterolemia and Metabolic Syndrome. Medicina (Kaunas). 2019 Aug 11;55(8):464. doi: 10.3390/medicina55080464. PMID: 31405227; PMCID: PMC6723464.

44: Salami A, Costanian C, El Shamieh S. rs2569190A>G in CD14 is Independently Associated with Hypercholesterolemia: A Brief Report. J Cardiovasc Dev Dis. 2019 Oct 30;6(4):37. doi: 10.3390/jcdd6040037. PMID: 31671579; PMCID:PMC6955813.

45: Froguel P, Ndiaye NC, Bonnefond A, Bouatia-Naji N, Dechaume A, Siest G, Herbeth B, Falchi M, Bottolo L, Guéant-Rodriguez RM, Lecoeur C, Langlois MR, Labrune Y, Ruokonen A, El Shamieh S, Stathopoulou MG, Morandi A, Maffeis C, Meyre D, Delanghe JR, Jacobson P, Sjöström L, Carlsson LM, Walley A, Elliott P, Jarvelin MR, Dedoussis GV, Visvikis-Siest S. A genome-wide association study identifies rs2000999 as a strong genetic determinant of circulating haptoglobin levels. PLoS One. 2012;7(3):e32327. doi: 10.1371/journal.pone.0032327. Epub 2012 Mar 5. PMID: 22403646; PMCID: PMC3293812.

46: Alghalyini B, El Shamieh S, Salami A, Visvikis Siest S, Fakhoury HM, Fakhoury R. Effect of SLCO1B1 gene polymorphisms and vitamin D on statin-induced myopathy. Drug Metab Pers Ther. 2018 Mar 28;33(1):41-47. doi: 10.1515/dmpt-2017-0030. PMID: 29420305.

47: El Shamieh S, Salami A, Fawaz M, Jounblat R, Waked M, Fakhoury R. rs6837671A>G in FAM13A Is a Trans-Ethnic Genetic Variant Interacting with Vitamin D Levels to Affect Chronic Obstructive Pulmonary Disease. J Pers Med. 2021 Jan 30;11(2):84. doi: 10.3390/jpm11020084. PMID: 33573279; PMCID: PMC7912529.

48: Orhan E, Prézeau L, El Shamieh S, Bujakowska KM, Michiels C, Zagar Y, Vol C, Bhattacharya SS, Sahel JA, Sennlaub F, Audo I, Zeitz C. Further insights into GPR179: expression, localization, and associated pathogenic mechanisms leading to complete congenital stationary night blindness. Invest Ophthalmol Vis Sci. 2013 Dec 9;54(13):8041-50. doi: 10.1167/iovs.13-12610. PMID: 24222301.

49: Moussa S, Saleh F, El Shamieh S, Assi T, Othman A, Farhat F. Detection of PIK3R1 (L449S) Mutation in a Patient with Ovarian Cancer: A Case Report. Case Rep Oncol. 2020 Feb 20;13(1):188-192. doi: 10.1159/000505723. PMID: 32231543; PMCID: PMC7098360.

50: El-Gowilly SM, Metwaly HA, Makhlouf D, Elmansoury N, Abuiessa SA, Sorour AA, Abdelgalil MH, Fawaz M, Abushady AM, Gamaleldin M, Abdelghany TM, Fakhoury R, Abdelhady R, Ghanim AM, Shehata S, Kamal M, Bahy R, Haroon SA, Manolopoulos VG, Cascorbi I, Daly A, Abdelkader NF, El Shamieh S, Nagy M, Wahid A. Analysis of the current situation of pharmacogenomics in terms of educational and healthcare needs in Egypt and Lebanon. Pharmacogenomics. 2024;25(10-11):429-440. doi: 10.1080/14622416.2024.2403967. Epub 2024 Oct 9. PMID: 39382016; PMCID: PMC11492645.

51: El Shamieh S, Boulanger-Scemama E, Lancelot ME, Antonio A, Démontant V, Condroyer C, Letexier M, Saraiva JP, Mohand-Saïd S, Sahel JA, Audo I, Zeitz C. Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy. Biomed Res Int. 2015;2015:485624. doi: 10.1155/2015/485624. Epub 2015 Jan 6. PMID: 25692139; PMCID: PMC4307388.

52: El Shamieh S, Saleh F, Moussa S, Kattan J, Farhat F. RICTOR gene amplification is correlated with metastasis and therapeutic resistance in triple-negative breast cancer. Pharmacogenomics. 2018 Jun 1;19(9):757-760. doi: 10.2217/pgs-2018-0019. Epub 2018 May 23. PMID: 29790419.

53: El Shamieh S, Ndiaye NC, Stathopoulou MG, Murray HA, Masson C, Lamont JV, Fitzgerald P, Benetos A, Visvikis-Siest S. Functional epistatic interaction between rs6046G>A in F7 and rs5355C>T in SELE modifies systolic blood pressure levels. PLoS One. 2012;7(7):e40777. doi: 10.1371/journal.pone.0040777. Epub 2012 Jul 18. PMID: 22815813; PMCID: PMC3399862.

54: Gorenjak V, Vance DR, Petrelis AM, Stathopoulou MG, Dadé S, El Shamieh S, Murray H, Masson C, Lamont J, Fitzgerald P, Visvikis-Siest S. Peripheral blood mononuclear cells extracts VEGF protein levels and VEGF mRNA: Associations with inflammatory molecules in a healthy population. PLoS One. 2019 Aug 16;14(8):e0220902. doi: 10.1371/journal.pone.0220902. Erratum in: PLoS One. 2019 Oct 24;14(10):e0224591. doi: 10.1371/journal.pone.0224591. PMID: 31419243;

55: Boulanger-Scemama E, Mohand-Saïd S, El Shamieh S, Démontant V, Condroyer C, Antonio A, Michiels C, Boyard F, Saraiva JP, Letexier M, Sahel JA, Zeitz C, Audo I. Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies. Int J Mol Sci. 2019 Sep 30;20(19):4854. doi: 10.3390/ijms20194854. PMID: 31574917; PMCID: PMC6801687.

56: Siest G, Nezhad MA, Bagrel D, El Shamieh S, Lambert D, Ndiaye NC, Shahabi P, Visvikis-Siest S. Functional genomics towards personalized healthcare and systems medicine. Per Med. 2011 May;8(3):227-242. doi: 10.2217/pme.10.89. PMID: 29783520.

57: Assaad S, Costanian C, Jaffal L, Tannous F, Stathopoulou MG, El Shamieh S. Association of TLR4 Polymorphisms, Expression, and Vitamin D with Helicobacter pylori Infection. J Pers Med. 2019 Jan 11;9(1):2. doi: 10.3390/jpm9010002. PMID: 30641993; PMCID: PMC6463146.

58: Boulanger-Scemama E, El Shamieh S, Démontant V, Condroyer C, Antonio A, Michiels C, Boyard F, Saraiva JP, Letexier M, Souied E, Mohand-Saïd S, Sahel JA, Zeitz C, Audo I. Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation. Orphanet J Rare Dis. 2015 Jun 24;10:85. doi: 10.1186/s13023-015-0300-3. PMID: 26103963; PMCID: PMC4566196.

59: El Shamieh S, Stathopoulou MG, Bonnefond A, Ndiaye NC, Lecoeur C, Meyre D, Dadé S, Chedid P, Salami A, Shahabi P, Dedoussis GV, Froguel P, Visvikis-Siest S. Obesity status modifies the association between rs7556897T>C in the intergenic region SLC19A3-CCL20 and blood pressure in French children. Clin Chem Lab Med. 2020 Oct 25;58(11):1819-1827. doi: 10.1515/cclm-2019-0292. PMID:32238601.

60: Akhdar H, El Shamieh S, Musso O, Désert R, Joumaa W, Guyader D, Aninat C, Corlu A, Morel F. The rs3957357C>T SNP in GSTA1 Is Associated with a Higher Risk of Occurrence of Hepatocellular Carcinoma in European Individuals. PLoS One. 2016 Dec 9;11(12):e0167543. doi: 10.1371/journal.pone.0167543. PMID: 27936036; PMCID: PMC5147914.

61: El Shamieh S, Salami A, Stathopoulou MG, Chedid P, Visvikis-Siest S. Increased risk of hypercholesterolemia in a French and Lebanese population due to an interaction between rs2569190 in CD14 and gender. Clin Chim Acta. 2020 Oct;509:172-176. doi: 10.1016/j.cca.2020.06.020. Epub 2020 Jun 13. PMID: 32544432.

62: El Shamieh S, Méjécase C, Bertelli M, Terray A, Michiels C, Condroyer C, Fouquet S, Sadoun M, Clérin E, Liu B, Léveillard T, Goureau O, Sahel JA, Audo I, Zeitz C. Further Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone Dystrophy. Genes (Basel). 2017 Oct 18;8(10):277. doi: 10.3390/genes8100277. PMID: 29057815; PMCID: PMC5664127.

63: Gorenjak V, Vance DR, Petrelis AM, Stathopoulou MG, Dadé S, El Shamieh S, Murray H, Masson C, Lamont J, Fitzgerald P, Visvikis-Siest S. Correction: Peripheral blood mononuclear cells extracts VEGF protein levels and VEGF mRNA: Associations with inflammatory molecules in a healthy population. PLoS One. 2019 Oct 24;14(10):e0224591. doi: 10.1371/journal.pone.0224591. Erratum for: PLoS One. 2019 Aug 16;14(8):e0220902. doi: 10.1371/journal.pone.0220902. PMID: 31648287; PMCID: PMC6812808.

64: Naja K, Salami A, El Shamieh S, Fakhoury R. rs622342 in SLC22A1, CYP2C9*2 and CYP2C9*3 and Glycemic Response in Individuals with Type 2 Diabetes Mellitus Receiving Metformin/Sulfonylurea Combination Therapy: 6-Month Follow-Up Study. J Pers Med. 2020 Jun 20;10(2):53. doi: 10.3390/jpm10020053. PMID: 32575674; PMCID: PMC7354490.

65: Nasser M, Chedid P, Salami A, Khalifeh M, El Shamieh S, Joumaa WH. Dataset on significant role of Candesartan on cognitive functions in rats having memory impairment induced by electromagnetic waves. Data Brief. 2018 Nov 26;21:2390-2394. doi: 10.1016/j.dib.2018.11.106. PMID: 30547063; PMCID: PMC6282640.

66: El Shamieh S, Saleh F, Assaad S, Farhat F. Next-generation sequencing reveals mutations in RB1, CDK4 and TP53 that may promote chemo-resistance to palbociclib in ovarian cancer. Drug Metab Pers Ther. 2019 May 30;34(2):/j/dmdi.2019.34.issue-2/dmpt-2018-0027/dmpt-2018-0027.xml. doi: 10.1515/dmpt-2018-0027. PMID: 31145688.

67: Chedid P, Salem-Sokhn E, El Shamieh S, Fakhoury R. Prevalence and Progression of Vitamin D Deficiency in Greater Beirut and Mount Lebanon From 2013 to 2022: An Analysis of 19,452 Adults. J Clin Lab Anal. 2025 Apr;39(8):e70023. doi: 10.1002/jcla.70023. Epub 2025 Mar 28. PMID: 40152347; PMCID: PMC12019705.

68: El Shamieh S, Saleh F, Fawaz MA, Siest G, Farhat FS, Visvikis-Siest S. Next generation sequencing and immuno-histochemistry profiling identify numerous biomarkers for personalized therapy of endometrioid endometrial carcinoma. Clin Chem Lab Med. 2017 Nov 27;56(1):e19-e22. doi: 10.1515/cclm-2017-0208. PMID: 28763293.

69: Mousawi Z, Choukeir M, Jaffal L, Karam L, Assi A, Ibrahim JN, Chebly A, El Shamieh S. Exploring copy number variations in Lebanese families with rod-cone dystrophy reveals a novel deletion in PRPF31 with haploinsufficiency. Ophthalmic Genet. 2025 Apr 28:1-7. doi: 10.1080/13816810.2025.2495945. Epub ahead of print. PMID: 40289750.

70: Ndiaye NC, Said el S, Stathopoulou MG, Siest G, Tsai MY, Visvikis-Siest S. Epistatic study reveals two genetic interactions in blood pressure regulation. BMC Med Genet. 2013 Jan 8;14:2. doi: 10.1186/1471-2350-14-2. PMID: 23298194; PMCID: PMC3599121.

71: Audo I, El Shamieh S, Méjécase C, Michiels C, Demontant V, Antonio A, Condroyer C, Boyard F, Letexier M, Saraiva JP, Blanchard S, Mohand-Saïd S, Sahel JA, Zeitz C. ARL2BP mutations account for 0.1% of autosomal recessive rod-cone dystrophies with the report of a novel splice variant. Clin Genet. 2017 Jul;92(1):109-111. doi: 10.1111/cge.12909. Epub 2017 Feb 6. PMID: 27790702.

72: El Shamieh S, Herbeth B, Azimi-Nezhad M, Benachour H, Masson C, Visvikis- Siest S. Human formyl peptide receptor 1 C32T SNP interacts with age and is associated with blood pressure levels. Clin Chim Acta. 2012 Jan 18;413(1-2):34-8. doi: 10.1016/j.cca.2010.11.038. Epub 2010 Dec 7. PMID:21144844.

73: Stathopoulou MG, Bonnefond A, Ndiaye NC, Azimi-Nezhad M, El Shamieh S, Saleh A, Rancier M, Siest G, Lamont J, Fitzgerald P, Visvikis-Siest S. A common variant highly associated with plasma VEGFA levels also contributes to the variation of both LDL-C and HDL-C. J Lipid Res. 2013 Feb;54(2):535-41. doi: 10.1194/jlr.P030551. Epub 2012 Dec 2. Erratum in: J Lipid Res. 2013 Mar;54(3):869. PMID: 23204297; PMCID: PMC3546029.

74: El Shamieh S, Saleem RA, Hammoudi Halat D, Fakhoury HMA, Bastaki K, Fawaz M, Malki A, Fakhoury R. Integrating pharmacogenomics in three Middle Eastern countries' healthcare (Lebanon, Qatar, and Saudi Arabia): Current insights, challenges, and strategic directions. PLoS One. 2025 Apr 11;20(4):e0319042. doi: 10.1371/journal.pone.0319042. PMID: 40215419; PMCID: PMC11991729.

75: Siest G, Ndiaye NC, El Shamieh S, Shahabi P, Stathopoulou M, Saleh AS, Godjo T, Albertini L, Visvikis-Siest S. Conference Scene: Systems biology and personalized health science and translation. Pharmacogenomics. 2013 Dec;14(16):1953-64. doi: 10.2217/pgs.13.201. PMID: 24279850.

76. Farjallah, E. et al. (2025). Affordable Deep Learning for Diagnosing Inherited and Common Retinal Diseases via Color Fundus Photography. In: Bhavna, A., Chen, H., Fang, H., Fu, H., Lee, C.S. (eds) Ophthalmic Medical Image Analysis. OMIA 2024. Lecture Notes in Computer Science, vol 15188. Springer, Cham. https://doi.org/10.1007/978-3-031-73119-8_9.

77: Missilmani F, Maarabouni D, Salem-Sokhn E, Karras SN, Fakhoury HMA, El Shamieh S. Evaluation of vitamin D status, vitamin D receptor expression, and innate immune mediators in COVID-19. Front Endocrinol (Lausanne). 2025 Aug 19;16:1600623. doi: 10.3389/fendo.2025.1600623. PMID: 40904798.

78: Mousawi Z, Chebly A, Nehme J, Ibrahim JN, Helou C, Zeitz C, El Shamieh S. Identification of a novel CABP4 frameshift variant and a secondary USH2A missense variant in congenital cone-rod synaptic disorder. Ophthalmic Genet. 2025 Oct 22:1-5. doi: 10.1080/13816810.2025.2573118.  PMID: 41126388.

79. Ibrahim M, Chebly A, El Shamieh S. Long-read Sequencing in Inherited Retinal Dystrophies: A Systematic Review. Ophthalmol Sci. 2026 Jan 9;6(3):101069. doi: 10.1016/j.xops.2026.101069. PMID: 41732776; PMCID: PMC12925152.

80. Farjallah E, El Shamieh S, Rezaei R, Herrmann P, Künzel S.H, Holz FG., Albarqouni S. Affordable Deep Learning for Diagnosing Inherited and Common Retinal Diseases via Color Fundus Photography. Ophthalmic Medical Image Analysis: 11th International Workshop, OMIA 2024, Held in Conjunction with MICCAI 2024, Morocco, 2024, Proceedings Pages 83 - 93. Doi: 10.1007/978-3-031-73119-8_9.

81. El Shamieh S, Saleh F, Masri N, Fakhoury HM, Fakhoury R.The association between ACE I/D polymorphism and the risk of Alzheimer's disease in Lebanon, Meta Gene, 18, 2018, Pages 191-194, https://doi.org/10.1016/j.mgene.2018.09.009.

82. El Shamieh S, Abdel Jabbar M, Fakhoury R, Aljada A, Anouti N, Kreidieh D, Hassan D, Hijazi MA, Fakhoury HMA. Vitamin D status and Helicobacter pylori infection: clinical associations and lipid pathway differences in an exploratory metabolomics sub-study. Front Nutr. 2026 Jun 1;13:1812874. doi: 10.3389/fnut.2026.1812874. PMID: 42305870; PMCID: PMC13265471.

83. Yacoub TB, Amprou A, Letellier C, Michiels C, Navarro J, El Shamieh S, Monfort T, Azzollini S, Wohlschlegel J, Chevreux G, Legros V, Lemao M, Lenaers G, Grieve K, Argentini M, Zeitz C, Audo I. The ITM2B-associated retinal dystrophy mutation modifies BRI23 peptide interactions in the human retina. Sci Rep. 2026 Jun 23. doi: 10.1038/s41598-026-53283-z. Epub ahead of print. PMID: 42336880.

2024–Present: Principal Investigator, Intramural Fund, Beirut Arab University (10,000 USD, 1 year). This grant supports an institutional research initiative to advance genomic diagnostics for inherited retinal diseases. It involves targeted sequencing and phenotype correlation studies using patient cohorts from underserved communities.

2024–Present: Co-investigator, AlFaisal University (12,000 USD, 24 months). The project investigates rare ophthalmic disorders in Arab populations using whole-exome sequencing and functional annotation. My role includes variant curation, pathogenicity assessment, and capacity building for local genomic data analysis.

2024: SSHN Mobility Grant, French Institute, French Embassy in Lebanon (3,000 USD). This mobility grant facilitated scientific exchange and collaborative visits to research units in France, enhancing knowledge transfer and strengthening bilateral projects in vision genetics and pharmacogenomics.

2021–2024: Partner and Work Package Leader, Erasmus+ OPPM Project (100,000 USD, 3 years). As a steering committee member and WP10.3 leader, I coordinated management-related activities, led curricular development, and contributed to the accreditation of the first master's program in Pharmacogenomics and Precision Medicine in the MENA region.

2021: Principal Investigator, 3Billion Inc., Seoul, South Korea (35,000 USD, 8 months). This industry-academic collaboration aimed to assess the clinical utility of whole-exome sequencing in Lebanese patients with suspected inherited retinal disorders. Results informed variant interpretation frameworks and highlighted regional mutational spectra.

2018–2020: Principal Investigator, CNRS–Beirut Arab University Joint Grant (18,500 USD, 2 years). The project explored novel genotype-phenotype correlations in autosomal recessive retinopathies. It led to high-impact publications and reinforced national research capacity in molecular diagnostics.

2018–2020: Co-investigator, AlFaisal University (13,000 USD, 18 months). This grant supported cross-institutional data sharing and analysis of exome datasets from Middle Eastern cohorts. I contributed to the prioritization of rare variants and manuscript preparation.

2018–2020: Co-investigator, Lebanese University President’s Research Grant (16,000 USD, 2 years). The research focused on uncovering genetic factors underlying complex cardiovascular and ophthalmic traits in the Lebanese population. My contribution centered on bioinformatics and translational interpretation.

2016–2018: Principal Investigator, Lebanese University President’s Research Grant (15,000 USD, 2 years). This project initiated the first structured biobank of Lebanese families with inherited eye diseases, laying the groundwork for downstream genetic and pharmacogenomic research.

2016–2018: Co-investigator, Lebanese University President’s Research Grant (12,000 USD, 2 years). I contributed to a collaborative project investigating the genetic basis of metabolic traits and their interaction with environmental risk factors, employing SNP-based association models.

2009–2012: Région Lorraine Doctoral Research Grant, France (29,000 EUR, 3 years). Awarded during my PhD training, this grant supported original research on statistical genomics and gene-environment interactions. It enabled extensive methodological development and multiple peer-reviewed outputs.

2022- Present: Associate Editor, BMC Medical Genomics (IF=3.6, Q2 Scimago), Springer Nature, UK

2021-Present: Associate Editor, Section: genetics of rare diseases, Frontiers in Bioscience Landmark (IF=4.1, Q1 Scimago).

2021-2022: Guest Editor of the special issue: The genetics of inherited retinal diseases in understudied ethnic groups: novel associations, challenges, and perspectives, Frontiers in Genetics (IF=4.56).

Undergraduate Courses:

- Genetics and Molecular Biology (3 Credits).
- Biochemistry (3 Credits)
- Molecular Genetics (1 Credit)
-  Clinical Biochemistry (3 Credits)

 

Graduate Courses:

- Nutrigenomics (3 Credits).

- Genomics and Proteomics (3 Credits).

Research focuses on undergoing genotype - phenotype associations to identify genetic variants associated with Inherited Retinal diseases.