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Next-generation sequencing in familial breast cancer patients from Lebanon.

Jalkh N, Chouery E, Haidar Z, Khater C, Atallah D, Ali H, Marafie MJ, Al-Mulla MR, Al-Mulla F, Megarbane A. Jalkh N, et al. BMC Med Genomics. 2017 Feb 15;10(1):8. doi: 10.1186/s12920-017-0244-7. BMC Med Genomics. 2017. PMID: 28202063 Free PMC article.

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Actionable Exomic Secondary Findings in 280 Lebanese Participants.

Jalkh N, Mehawej C, Chouery E. Jalkh N, et al. Front Genet. 2020 Mar 13;11:208. doi: 10.3389/fgene.2020.00208. eCollection 2020. Front Genet. 2020. PMID: 32231684 Free PMC article.

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Mitochondrial DNA control region variation in Lebanon, Jordan, and Bahrain.

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. Zimmermann B, et al. Among authors: jalkh n. Forensic Sci Int Genet. 2019 Sep;42:99-102. doi: 10.1016/j.fsigen.2019.06.020. Epub 2019 Jun 29. Forensic Sci Int Genet. 2019. PMID: 31284104

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A Homozygous Splicing Mutation in PDE2A in a Family With Atypical Rett Syndrome.

Haidar Z, Jalkh N, Corbani S, Abou-Ghoch J, Fawaz A, Mehawej C, Chouery E. Haidar Z, et al. Among authors: jalkh n. Mov Disord. 2020 May;35(5):896-899. doi: 10.1002/mds.28023. Epub 2020 Mar 20. Mov Disord. 2020. PMID: 32196122 No abstract available.

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A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation.

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. Gutierrez-Rodrigues F, et al. Among authors: jalkh n. Hum Genet. 2019 Dec;138(11-12):1323-1330. doi: 10.1007/s00439-019-02076-8. Epub 2019 Nov 1. Hum Genet. 2019. PMID: 31677132

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A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disability.

Hamdan N, Mehawej C, Sebaaly G, Jalkh N, Corbani S, Abou-Ghoch J, De Backer O, Chouery E. Hamdan N, et al. Among authors: jalkh n. Clin Genet. 2020 Sep;98(3):288-292. doi: 10.1111/cge.13799. Clin Genet. 2020. PMID: 32578875

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The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population.

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. Jalkh N, et al. BMC Med Genomics. 2019 Jan 21;12(1):11. doi: 10.1186/s12920-019-0474-y. BMC Med Genomics. 2019. PMID: 30665423 Free PMC article.

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RAC1 expression and role in IL-1β production and oxidative stress generation in familial Mediterranean fever (FMF) patients.

Ibrahim JN, Jounblat R, Jalkh N, Abou Ghoch J, Al Hageh C, Chouery E, Mégarbané A, Lecron JC, Medlej-Hashim M. Ibrahim JN, et al. Among authors: jalkh n. Eur Cytokine Netw. 2018 Nov 1;29(4):127-135. doi: 10.1684/ecn.2018.0416. Eur Cytokine Netw. 2018. PMID: 30698144

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Atypical pyridoxine dependent epilepsy resulting from a new homozygous missense mutation, in ALDH7A1.

Haidar Z, Jalkh N, Corbani S, Fawaz A, Chouery E, Mégarbané A. Haidar Z, et al. Among authors: jalkh n. Seizure. 2018 Apr;57:32-33. doi: 10.1016/j.seizure.2018.03.010. Epub 2018 Mar 10. Seizure. 2018. PMID: 29547829 Free article.

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Genome-wide inbreeding estimation within Lebanese communities using SNP arrays.

Jalkh N, Sahbatou M, Chouery E, Megarbane A, Leutenegger AL, Serre JL. Jalkh N, et al. Eur J Hum Genet. 2015 Oct;23(10):1364-9. doi: 10.1038/ejhg.2014.246. Epub 2014 Nov 26. Eur J Hum Genet. 2015. PMID: 25424710 Free PMC article.

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