Predicting Consanguinity Rates from Exome Sequencing Data in the Lebanese Population

Authors: Hanna, Eileen Marie ^∗, Mehawej, Cybel ^†, Assy, Joelle ^∗, Corbani, Sandra ^†, Korban, Rima ^†, Megarbane, Andre ^{†, ‡, ∗}, Chouery, Eliane ^{†, ∗}

Source: In The Journal of Molecular Diagnostics March 2025 27(3):177-183

Genetic profile of borderline ovarian tumors in the Lebanese population by whole‐exome sequencing

Authors: Feghaly, Iman, Kourie, Hampig, Moubarak, Malak, Chouery, Eliane, Mehawej, Cybel, Jalkh, Nadine, Atallah, David

Source: International journal of gynaecology and obstetrics. 162(3):1027-1032

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Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

Authors: Shan, Jingxuan, Megarbane, André, Chouchane, Aziz, Karthik, Deepak, Temanni, Ramzi, Romero, Atilio Reyes, Hua, Huiying, Pan, Chun, Chen, Xixi, Subramanian, Murugan, Saad, Chadi, Mbarek, Hamdi, Mehawej, Cybel, Chouery, Eliane, Abuaqel, Sirin W., Dömling, Alexander, Remadi, Sami, Yaghi, Cesar, Li, Pu, Chouchane, Lotfi

Source: Hepatology. 77(2):501-511

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

Authors: Mehawej, Cybel, Chouery, Eliane, Al Hage Chehade, Ghada, Bejaoui, Yosra, Mahfoud, Daniel, Gerges, Maya, Delague, Valérie, El Hajj, Nady, Megarbane, Andre

Source: Molecular syndromology. 14(3):219-224

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BHLHA9 homozygous duplication in a consanguineous family: A challenge for genetic counseling

Authors: Chouery, Eliane, Tahan, Elio, Karam, Rim, Pharoun, Jana, Mehawej, Cybel, Megarbane, Andre

Source: American journal of medical genetics.Part A. 191(4):923-929

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NEK8-Associated Nephropathies: Do Autosomal Dominant Forms Exist?

Authors: Mehawej, Cybel, Chouery, Eliane, Ghabril, Ramy, Tokajian, Sima, Megarbane, Andre

Source: Nephron journals. 147(3/4):229-233

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POLD3 deficiency is associated with severe combined immunodeficiency, neurodevelopmental delay, and hearing impairment

Authors: Mehawej, Cybel, Chouery, Eliane, Azar-Atallah, Shirine, Shebaby, Wassim, Delague, Valerie, Mansour, Issam, Mustapha, Mirna, Lefranc, Gerard, Megarbane, Andre

Source: In Clinical Immunology June 2023 251

Exploring hTERT promoter methylation in cutaneous T‐cell lymphomas

Authors: Chebly, Alain, Ropio, Joana, Peloponese, Jean‐Marie, Poglio, Sandrine, Prochazkova‐Carlotti, Martina, Cherrier, Floriane, Ferrer, Jacky, Idrissi, Yamina, Segal‐Bendirdjian, Evelyne, Chouery, Eliane, Farra, Chantal, Pham‐Ledard, Anne, Beylot‐Barry, Marie, Merlio, Jean‐Philippe, Tomb, Roland, Chevret, Edith

Source: Molecular oncology. 16(9):1931-1946

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Early infantile epileptic encephalopathy related to NECAP1: Clinical delineation of the disease and review

Authors: Chouery, Eliane, Mehawej, Cybel, Sabbagh, Sandra, Bleik, Jamal, Megarbane, Andre

Source: European journal of neurology. 29(8):2486-2492

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Diagnosis and treatment of lymphomas in the era of epigenetics

Authors: Chebly, Alain, Chouery, Eliane, Ropio, Joana, Kourie, Hampig Raphael, Beylot-Barry, Marie, Merlio, Jean-Philippe, Tomb, Roland, Chevret, Edith

Source: In Blood Reviews July 2021 48

POLD3haploinsufficiency is linked to non-syndromic sensorineural adult-onset progressive hearing and balance impairments

Authors: Chouery, Eliane, Mehawej, Cybel, Saade, Rami, Barake, Rana, Zarecki, Patryk, Gennery, Catherine, Corbani, Sandra, Korban, Rima, Hamam, Ali, Nasser Eldin, Jade, Yamout, Mohamad, Banna, Mazen, Yamout, Abdul Kader Afif, Adhami, Fawaz, Megarbane, Andre, Mustapha, Mirna

Source: European Journal of Human Genetics: EJHG; January 2025, Vol. 33 Issue: 1 p121-130, 10p

Molecular pathogenesis of hereditary lung cancer: a literature review

Authors: Rammal, Souraya, Kourie, Hampig Raphael, Jalkh, Nadine, Mehawej, Cybel, Chouery, Eliane, Moujaess, Elissar, Dabar, Georges

Source: Pharmacogenomics. 22(12):793-805

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Clinical and Genetic Features of Patients With Fanconi Anemia in Lebanon and Report on Novel Mutations in the FANCA and FANCG Genes

Authors: Farah, Roula A., Nair, Pratibha, Koueik, Jack, Yammine, Tony, Khalifeh, Hassan, Korban, Rima, Collet, Agnes, Khayat, Claudia, Dubois-Denghien, Catherine, Chouery, Eliane, Blanluet, Maud, El-Hayek, Stephany, Stoppa-Lyonnet, Dominique, Megarbane, Andre

Source: Journal of pediatric hematology/oncology. 43(5):e727-e735

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Expanding the phenotypes of ABL1 deficiency syndromes: When mutations in different isoforms Lead to different diseases.

Authors: Chouery, Eliane¹ (AUTHOR), Mehawej, Cybel¹ (AUTHOR), Mansour, Aline² (AUTHOR), Corbani, Sandra¹ (AUTHOR), Korban, Rima¹ (AUTHOR), Zalloum, Richard³ (AUTHOR), Megarbane, Andre^1,4 (AUTHOR) andre.megarbane@lau.edu.lb

Source: Clinical Genetics. Dec2024, Vol. 106 Issue 6, p782-785. 4p.

Subject Terms: *VENTRICULAR outflow obstruction, *CONGENITAL heart disease, *SINUS of valsalva, *PULMONARY valve, *PULMONARY stenosis, *VENTRICULAR septal defects, *LEFT ventricular hypertrophy, *AORTIC valve

Endophilin A2 Deficiency Impairs Antibody Production in Humans.

Authors: Mehawej, Cybel¹ (AUTHOR) cybel.mehawej@lau.edu.lb, Chouery, Eliane¹ (AUTHOR), Farah, Roula² (AUTHOR), Khalil, Alia³ (AUTHOR), Hachem, Setrida El¹ (AUTHOR), Corbani, Sandra¹ (AUTHOR), Delague, Valerie⁴ (AUTHOR), Mansour, Issam^5,6 (AUTHOR), Najemdeen, Tarek⁶ (AUTHOR), Korban, Rima¹ (AUTHOR), Faour, Wissam H.³ (AUTHOR), Lefranc, Gerard⁷ (AUTHOR), Megarbane, Andre^1,8 (AUTHOR) andre.megarbane@lau.edu.lb

Source: Journal of Clinical Immunology. 11/5/2024, Vol. 45 Issue 1, p1-9. 9p.

Subject Terms: *IMMUNOLOGIC memory, *ANTIBODY formation, *GERMINAL centers, *B cells, *RESPIRATORY infections

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

Authors: Zimmermann, Bettina, Sturk-Andreaggi, Kimberly, Huber, Nicole, Xavier, Catarina, Saunier, Jessica, Tahir, Mohammad, Chouery, Eliane, Jalkh, Nadine, Megarbane, Andre, Bodner, Martin, Coble, Michael, Irwin, Jodi, Parsons, Thomas, Parson, Walther

Source: In Forensic Science International: Genetics September 2019 42:99-102

Genome sequencing unveils mutational landscape of the familial Mediterranean fever: Potential implications of IL33/ST2 signalling

Authors: Umar, Meenakshi, Megarbane, Andre, Shan, Jingxuan, Syed, Najeeb, Chouery, Eliane, Aliyev, Elbay, Jithesh, Puthen, Temanni, Ramzi, Mansour, Issam, Chouchane, Lotfi, Ismail Chouchane, Aouatef

Source: Journal of cellular and molecular medicine. 24(19):11294-11306

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

Authors: Hamdan, Nadine, Mehawej, Cybel, Sebaaly, Ghada, Jalkh, Nadine, Corbani, Sandra, Abou‐Ghoch, Joelle, De Backer, O., Chouery, Eliane

Source: Clinical genetics. 98(3):288-292

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Whole-exome and whole-genome sequencing in chronic lymphocytic leukemia: new biomarkers to target

Authors: Hobeika, Charbel, Rached, Gaelle, Chebly, Alain, Chouery, Eliane, Kourie, Hampig Raphael

Source: Pharmacogenomics. 21(13):957-962

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

Authors: Haidar, Zahraa, Jalkh, Nadine, Corbani, Sandra, Abou‐Ghoch, Joelle, Fawaz, Ali, Mehawej, Cybel, Chouery, Eliane

Source: Movement disorders. 35(5):896-899

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100107197825.0x000001&indx=1&recIds=ETOCvdc_100107197825.0x000001