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É

Éliane Chouery

lebanese american university

36H指数
182论文数
4.6K被引数
收录论文 56
发表时间
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Expanded clinical and genetic characterization of autosomal recessive HMGCR-related muscular dystrophy常染色体隐性HMGCR相关肌营养不良的临床与遗传学特征扩展研究
errJournal of Neuromuscular Diseases
IF3.4
err2026-03-29
err0
PREAI
errStephany El-Hayek; Aboulfazl Rad; Sahar Sedighzadeh; Gozde Yesil; Sandra Sabbagh; Mohammad Shahrooei; Pratibha Nair; Asuman Gedikbaşı; Sami Bizzari; Murtadha Ali; Eliane Chouery; Cybel Mehawej; Ayca Aslanger; Pejman Rohani; Meisam Sharifzadeh; Sinan Akbas; Javad Mohammadi-asl; Mahdiyeh Behnam; Sandra Corbani; Volkan Karaman; Uluç Yiş; Yavuz Oktay; Ipek Polat; J Andoni Urtizberea; Henry Houlden; Reza Maroofian; Gabriela Oprea; Andre Megarbane
err分享
err收藏
Blended Phenotypes in Siblings: Dual Diagnoses of Nicolaides-Baraitser and Craniosynostosis Syndromes兄弟姐妹中的混合表型：Nicolaides-Baraitser综合征和颅缝早闭综合征的双重诊断
errMolecular Syndromology
IF0.9
err2025-10-01
err0
PREAI
errBizzari, Sami; Mehawej, Cybel; Chouery, Eliane; Nair, Pratibha; Corbani, Sandra; Lefranc, Gerard; El-Hayek, Stephany; Megarbane, Andre
err分享
err收藏
Recurrent nonsense p.Trp3416* variant in the DMD gene identified in healthy Lebanese individuals: Implications for variant classification and genotype-phenotype correlations在健康黎巴嫩个体中发现的DMD基因中复发性无义p.Trp3416*变异：对变异分类和基因型-表型关联的启示
errJournal of Neuromuscular Diseases
IF3.4
err2025-08-19
err0
errOAAI
errEliane Chouery; Cybel Mehawej; Serena Youssef; Yasmina Sfeir; Sandra Corbani; Rima Korban; France Leturcq; J Andoni Urtizberea; Andre Megarbane
err分享
err收藏
Predicting Consanguinity Rates from Exome Sequencing Data in the Lebanese Population
errJOURNAL OF MOLECULAR DIAGNOSTICS
IF3.4
err2025-03-01
err0
PREAI
errHanna, Eileen Marie; Mehawej, Cybel; Assy, Joelle; Corbani, Sandra; Korban, Rima; Megarbane, Andre; Chouery, Eliane
err分享
err收藏
Endophilin A2 Deficiency Impairs Antibody Production in Humans
errJOURNAL OF CLINICAL IMMUNOLOGY
IF5.7
err2024-11-05
err0
PREAI
errMehawej, Cybel; Chouery, Eliane; Farah, Roula; Khalil, Alia; El Hachem, Setrida; Corbani, Sandra; Delague, Valerie; Mansour, Issam; Najemdeen, Tarek; Korban, Rima; Faour, Wissam H.; Lefranc, Gerard; Megarbane, Andre
err分享
err收藏
POLD3 haploinsufficiency is linked to non-syndromic sensorineural adult-onset progressive hearing and balance impairments
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2024-10-16
err1
PREAI
errChouery, Eliane; Mehawej, Cybel; Saade, Rami; Barake, Rana; Zarecki, Patryk; Gennery, Catherine; Corbani, Sandra; Korban, Rima; Hamam, Ali; Eldin, Jade Nasser; Yamout, Mohamad; Banna, Mazen; Yamout, Abdul Kader Afif; Adhami, Fawaz; Megarbane, Andre; Mustapha, Mirna
err分享
err收藏
POLD3 deficiency is associated with severe combined immunodeficiency, neurodevelopmental delay, and hearing impairment
errCLINICA CHIMICA ACTA
IF2.9
err2024-05-01
err0
errOAAI
errMehawej, C.; Chouery, E.; Azar-Atallah, S.; Shebaby, W.; Delague, V.; Mansour, I.; Lefranc, G. L.; Mustapha, M.; Megarbane, A.
err分享
err收藏
Indisputable vs. questionable actionable secondary findings in a cohort of 500 Lebanese participants: What to report to the patient?
errCLINICA CHIMICA ACTA
IF2.9
err2024-05-01
err0
PREAI
errHanna, E. M.; Mehawej, C.; Hoblos, Y.; Rahy, K.; Megarbane, A.; Chouery, E.
err分享
err收藏
PCDH19 in males: Are hemizygous variants linked to autism?
errCLINICA CHIMICA ACTA
IF2.9
err2024-05-01
err0
PREAI
errChouery, E.; Makhlouf, J.; Khatoun, W. Daoud; Mehawej, C.; Megarbane, A.
err分享
err收藏
A homozygous frameshift variant expands the clinical spectrum of SAMD9 gene defects
errCLINICA CHIMICA ACTA
IF2.9
err2024-05-01
err0
PREAI
errMehawej, C.; Ibrahim, M.; Khalife, L.; Chouery, E.; El Hachem, S.; Sayad, A.; El Traboulsi, A.; Inati, A.; Megarbane, A.
err分享
err收藏
Genetic Polymorphisms Involved in Bladder Cancer: A Global Review涉及膀胱癌的遗传多态性: 全球综述
errONCOLOGY REVIEWS
IF5.2
err2023-11-06
err5
errOAAI
errKourie, Hampig Raphael; Zouein, Joseph; Succar, Bahaa; Mardirossian, Avedis; Ahmadieh, Nizar; Chouery, Eliane; Mehawej, Cybel; Jalkh, Nadine; Kattan, Joseph; Nemr, Elie
err分享
err收藏
Genetic predisposition to porto-sinusoidal vascular disorder: A functional genomic-based, multigenerational family study
errHEPATOLOGY
IF15.8
err2022-09-03
err11
errOAAI
errShan, Jingxuan; Megarbane, Andre; 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.; Domling, Alexander; Remadi, Sami; Yaghi, Cesar; Li, Pu; Chouchane, Lotfi
err分享
err收藏
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort
errJOURNAL OF NEUROMUSCULAR DISEASES
IF3.4
err2022-01-04
err30
errOAAI
errMegarbane, Andre; Bizzari, Sami; Deepthi, Asha; Sabbagh, Sandra; Mansour, Hicham; Chouery, Eliane; Hmaimess, Ghassan; Jabbour, Rosette; Mehawej, Cybel; Alame, Saada; Hani, Abeer; Hasbini, Dana; Ghanem, Ismat; Koussa, Salam; Al-Ali, Mahmoud Taleb; Obeid, Marc; Talea, Diana Bou; Lefranc, Gerard; Levy, Nicolas; Leturcq, France; El Hayek, Stephany; Delague, Valerie; Urtizberea, J. Andoni
err分享
err收藏
Exploring hTERT promoter methylation in cutaneous T-cell lymphomas
errMOLECULAR ONCOLOGY
IF4.5
err2021-10-12
err13
errOAAI
errChebly, 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
err分享
err收藏
Diagnosis and treatment of lymphomas in the era of epigenetics
errBLOOD REVIEWS
IF5.7
err2021-07-01
err9
PREAI
errChebly, Alain; Chouery, Eliane; Ropio, Joana; Kourie, Hampig Raphael; Beylot-Barry, Marie; Merlio, Jean -Philippe; Tomb, Roland; Chevret, Edith
err分享
err收藏
Deciphering balanced translocations in infertile males by next-generation sequencing to identify candidate genes for spermatogenesis disorders
errMOLECULAR HUMAN REPRODUCTION
IF3.5
err2021-05-01
err7
PREAI
errYammine, T.; Reynaud, N.; Lejeune, H.; Diguet, F.; Rollat-Farnier, P. A.; Labalme, A.; Plotton, I; Farra, C.; Sanlaville, D.; Chouery, E.; Schluth-Bolard, C.
err分享
err收藏
A Homozygous Splicing Mutation in PDE2A in a Family with Atypical Rett Syndrome
errMOVEMENT DISORDERS
IF7.6
err2020-03-20
err7
PREAI
errHaidar, Zahraa; Jalkh, Nadine; Corbani, Sandra; Abou-Ghoch, Joelle; Fawaz, Ali; Mehawej, Cybel; Chouery, Eliane
err分享
err收藏
A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation
errHUMAN GENETICS
IF3.6
err2019-11-01
err4
errOAAI
errGutierrez-Rodrigues, Fernanda; Masri, Nohad; Chouery, Eliane; Diamond, Carrie; Jalkh, Nadine; Vicente, Alana; Kajigaya, Sachiko; Abillama, Fayez; Bejjani, Noha; Serhal, Wassim; Calado, Rodrigo T.; Young, Neal S.; Farhat, Hussein; Coussa, Marie Louise
err分享
err收藏
Mitochondrial DNA control region variation in Lebanon, Jordan, and Bahrain
errFORENSIC SCIENCE INTERNATIONAL-GENETICS
IF3.1
err2019-09-01
err5
errOAAI
errZimmermann, 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
err分享
err收藏
Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1
errHUMAN MOLECULAR GENETICS
IF3.2
err2019-04-02
err21
errOAAI
errEl-Bazzal, Lara; Rihan, Khalil; Bernard-Marissal, Nathalie; Castro, Christel; Chouery-Khoury, Eliane; Desvignes, Jean-Pierre; Atkinson, Alexandre; Bertaux, Karine; Koussa, Salam; Levy, Nicolas; Bartoli, Marc; Megarbane, Andre; Jabbour, Rosette; Delague, Valerie
err分享
err收藏

研究方向

暂时未获取到该数据
合作学者
合作期刊
G
Guy A. Rouleau
H 指数: 146 · 论文数: 1.3K
S
Stylianos E. Antonarakis
H 指数: 146 · 论文数: 920
K
Kevin P. Campbell
H 指数: 143 · 论文数: 597
A
Arnold Münnich
H 指数: 129 · 论文数: 960
R
Raif S. Geha
H 指数: 119 · 论文数: 768
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