Eliane Chouery, PhD

Associate Professor
Genetics Discipline Co-Coordinator
Department of Human Genetics

Dr. Eliane Chouery obtained her Ph.D. in Human Genetics and Molecular Biology from Université de Versailles Saint-Quentin-en-Yvelines, France in 2008. She had established, in 1998, the Molecular Biology unit for molecular diagnosis, and in 2005 the Human Identification section, at Saint Joseph University (USJ) in Lebanon. Beginning in 2002, Dr. Chouery was in charge of the Molecular Biology and Basic Genetics courses at the same faculty. She was appointed Associate Professor in the Faculty of Medicine of USJ in 2017.

Her research focuses on the identification of genes involved in orphan diseases. She is author or co-author of more than 100 publications.

Dr. Chouery’s previous experience will enable her to contribute to the establishment of the Department of Human Genetics at the LAU Gilbert and Rose-Marie Chagoury School of Medicine. This department will include a genetic counseling unit, a molecular genetic diagnosis unit and a human identification unit; and the Human Genetics faculty will engage substantially in teaching and research activities at the school of medicine.

Selected Publications

  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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.
  7. Choucair N, Ghoch JA, Corbani S, Cacciagli P, Mignon-Ravix C, Salem N, Jalkh N, El Sabbagh S, Fawaz A, Ibrahim T, Villard L, Mégarbané A, Chouery E.  Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients. Mol Cytogenet. (2015 Apr) 8:26; doi: 10.1186/s13039-015-0130-y
  8. 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
  9. 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
  10. 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