Eliane Chouery, PhD

Associate Professor
Genetics Discipline Co-Coordinator
Department of Human Genetics

Eliane Chouery obtained her PhD in Human Genetics and Molecular Biology from Université de Versailles Saint Quentein-en-Yvelines, France in 2008. She established, in 1998, the Molecular Biology Unit for molecular diagnosis, and in 2005 the Human Identification section at Saint Joseph University of Beirut. She moved in September 2020 to the Lebanese American University to contribute to the establishment of a genetics department, and joined the Gilbert and Rose-Marie Chagoury School of Medicine as associate Professor and as co-coordinator of the Genetics discipline.

Besides her expertise in the field of molecular diagnoses, her main research projects are based on the identification of genes involved in orphan diseases, of which mainly syndromic and non-syndromic intellectual disability, neurodegenerative disorders and deafness. Her work in linking genes to human disorders contributes to the understanding of the physiopathogenic mechanism driving these diseases which might enable the elucidation of physiological mechanisms, and may in some cases lead to the implementation of new therapeutic approaches. Today, she is author and co-author of 130 papers published in peer-reviewed journals with an h-index of 38 and 5179 citations (as per March 2024). Dr. Chouery has been recognized by several awards in acknowledgment of her achievements.

Selected Publications

  1. Mehawej C, Ibrahim M, Khalife L, Chouery E, El Hachem S, Sayad A, El Traboulsi A, Inati A, Megarbane A. A homozygous frameshift variant expands the clinical spectrum of SAMD9 gene defects. Clin Genet. 2024 Feb;105(2):202-208. doi: 10.1111/cge.14439. Epub 2023 Oct 13. PMID: 37830462.
  2. Mehawej C, Chouery E, Azar-Atallah S, Shebaby W, Delague V, Mansour I, Mustapha M, Lefranc G, Megarbane A. POLD3 deficiency is associated with severe combined immunodeficiency, neurodevelopmental delay, and hearing impairment. Clin Immunol. 2023 Jun;251:109326. doi: 10.1016/j.clim.2023.109326. Epub 2023 Apr 6. PMID: 37030525.
  3. Mehawej C, Chouery E, Ghabril R, Tokajian S, Megarbane A. NEK8-Associated Nephropathies: Do Autosomal Dominant Forms Exist? Nephron. 2023;147(3-4):229-233. doi: 10.1159/000526841. Epub 2022 Oct 10. PMID: 36215968.
  4. Chouery E, Mehawej C, Sabbagh S, Bleik J, Megarbane A. Early infantile epileptic encephalopathy related to NECAP1: Clinical delineation of the disease and review. Eur J Neurol. 2022 Aug;29(8):2486-2492. doi: 10.1111/ene.15424. Epub 2022 Jun 9. PMID: 35638367.
  5. Chouery E, Mehawej C, Megarbane A. A novel homozygous variant in RNF170 causes hereditary spastic paraplegia: a case report and review. Neurogenetics. 2022 Apr;23(2):85-90. doi: 10.1007/s10048-022-00685-6. Epub 2022 Jan 18. PMID: 35041108 Review.
  6. Jalkh N, Mehawej C, Chouery E. Actionable exomic secondary findings in 280 Lebanese Participants. Front. Genet. (2020 Mar) 11:208; https://doi.org/10.3389/fgene.2020.00208
  7. Haidar Z, Jalkh N, Corbani S, Abou-Ghoch J, Fawaz A, Mehawej C, Chouery E. A homozygous splicing mutation in PDE2A in a family with atypical Rett syndrome. Mov. Disord. (2020 May) 35(5):896-899; doi:10.1002/mds.28023
  8. Gutierrez-Rodrigues F, Masri N, Chouery E, Diamond C, Jalkh N, Vicente A, Kajigaya S, Abillama F, Bejjani N, Serhal W, Calado RT, Young NS, Farhat H, Coussa ML. A novel homozygous RTEL1 variant in a consanguineous Lebanese family: Phenotypic heterogeneity and disease anticipation. Hum Genet. (2019 Dec)138(11-12):1323-1330; doi:10.1007/s00439-019-02076-8; *First 3 authors contributed equally.
  9. Jalkh N, Corbani S, Haidar Z, Hamdan N, Farah E, Abou Ghoch J, Ghosn R, Salem N, Fawaz A, Djambas Khayat C, Rajab M, Mourani C, Moukarzel A, Rassi S, Gerbaka B, Mansour H, Baassiri M, Dagher R, Breich D, Mégarbané A, Desvignes JP, Delague V, Mehawej C, Chouery E. The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population. BMC Med Genomics. (2019 Jan) 12(1):11; doi: 10.1186/s12920-019-0474-y
  10. Zimmermann B, Sturk-Andreaggi K, Huber N, Xavier C, Saunier J, Tahir M, Chouery E, Jalkh N, Megarbane A, Bodner M, Coble M, Irwin J, Parsons T, Parson W. Mitochondrial DNA control region variation in Lebanon, Jordan, and Bahrain. Forensic Sci Int Genet. (2019 Sep) 42:99-102. doi:10.1016/j.fsigen.2019.06.020
  11. Jalkh N, Chouery E, Haidar Z, Khater C, Atallah D, Ali H, Marafie MJ, Al-Mulla MR, Al-Mulla F, Megarbane A. Next-generation sequencing in familial breast cancer patients from Lebanon. BMC Med Genomics (2017 Feb) 10(1):8; doi: 10.1186/s12920-017-0244-7.
  12. Bernard G, Chouery E, Putorti ML, Tétreault M, Takanohashi A, Carosso G, Clément I, Boespflug-Tanguy O, Rodriguez D, Delague V, Abou Ghoch J, Jalkh N, Dorboz I, Fribourg S, Teichmann M, Megarbane A, Schiffmann R, Vanderver A, Brais B. Mutations of POLR3A encoding a catalytic subunit of RNA Polymerase Pol III cause a recessive Hypomyelinating Leukodystrophy. Am J Hum Genet. (2011 Sep) 89(3):415-23; doi: 10.1016/j.ajhg.2011.07.014
  13. Chouery E, Delague V, Bergougnoux A, Koussa S, Serre JL, Mégarbané A. Mutations in TREM2 lead to pure early-onset dementia without bone cysts. Hum Mutat. (2008 Jun) 29(9):E194-E204; doi:10.1002/humu.20836
  14. Adaimy L, Chouery E, Megarbane H, Mroueh S, Delague V, Nicolas E, Belguith H, de Mazancourt P, Megarbane A. Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: The odonto-onycho-dermal dysplasia. Am J Hum Genet. (2007 Oct) 81(4):821-8; doi: 10.1086/520064

View Dr. Chouery’s publications on Pubmed.

Professional and Research Interests

Education and Training

Professional Organizations, Memberships, Affiliations, and/or Honors


Human genetics, molecular biology, chromosomal abnormalities, orphan diseases, rare diseases, molecular diagnosis, genotyping/sequencing/linkage analysis, micorarray analysis, next-generation sequencing, human identification, preimplantation genetic diagnosis