André Mégarbané

17.1k citations

276 papers · 7.0k indexed · 1 hit paper · h-index 43

Impact in

Genetics top 0.5%
- Connective tissue disorders research
- Genomic variations and chromosomal abnormalities
Sensory Systems top 1%

Papers in

Genetics 125
- Connective tissue disorders research 34
- Genomics and Rare Diseases 25
- Genetics and Neurodevelopmental Disorders 24
- Genomic variations and chromosomal abnormalities 23
Developmental Biology 8

Co-authors: Éliane Chouery Valérie Delague Jacques Loiselet Hala Mégarbané Marie‐Paule Lefranc Nabiha Salem Nadine Jalkh Myrna Medlej‐Hashim
Journals: European Journal of Human Genetics (16 papers)European Journal of Medical Genetics (16 papers)The American Journal of Human Genetics (11 papers)Clinical Genetics (8 papers)Journal of Medical Genetics (6 papers)
Partner nations: Lebanon France United States

In The Last Decade

André Mégarbané

267 papers receiving 6.8k citations

Hit Papers

align trajectories log scale

Identification of the gene altered in Berardinelli–Seip congenital lipodystrophy on chromosome 11q13 2001 · 560 citations

Peers

Countries citing papers authored by André Mégarbané

Since Specialization

Citations

This map shows the geographic impact of André Mégarbané's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by André Mégarbané with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites André Mégarbané more than expected).

Fields of papers citing papers by André Mégarbané

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by André Mégarbané. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by André Mégarbané. The network helps show where André Mégarbané may publish in the future.

Co-authorship network

The 25 scholars most cited alongside André Mégarbané, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with André Mégarbané Line = papers co-authored together André Mégarbané links everyone, so they are left out of the graph.

All Works

Sort: Min cites: Since: Top N: Style:

20 of 20 papers shown

#	Work
1	A homozygous frameshift variant expands the clinical spectrum of SAMD9 gene defects Clinica Chimica Acta ·Cybel Mehawej, M. Sofi Ibrahim, Andrea Maffia, Éliane Chouery, Ya-juan Zhnag, Alaleh Gheissari, M. Anitha, Adlette Inati, André Mégarbané	2024	1
2	Predicting Consanguinity Rates from Exome Sequencing Data in the Lebanese Population Journal of Molecular Diagnostics ·M.A. Pastoors, Cybel Mehawej, Michael D. Schroeder, Sandra Corbani, NI Ya-mingb, André Mégarbané, Éliane Chouery	2024	1
3	A homozygous frameshift variant expands the clinical spectrum of SAMD9 gene defects Clinical Genetics ·Cybel Mehawej, Dong-Gi Shin, Andrea Maffia, Éliane Chouery, Ansun Jeong, Ся Чэнь, M. Anitha, Adlette Inati, André Mégarbané	2023	0
4	POLD3 deficiency is associated with severe combined immunodeficiency, neurodevelopmental delay, and hearing impairment Clinical Immunology ·Cybel Mehawej, Éliane Chouery, Huy Nam Chu, Wassim N. Shebaby, Valérie Delague, Issam Mansour, Mirna Mustapha, Marie‐Paule Lefranc, André Mégarbané	2023	4
5	Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot–Marie–Tooth disease 4H Brain ·Smriti Agarwal, XU Cheng-xiang, Jean Paul Mwalitsa, Yilu Dong, Yudong Cao, Ruslan Balkarov, Nathalie Roeckel-Trévisiol, Frédérique Lembo, Nicolas Lenfant, André Mégarbané, Jean‐Paul Borg, Nicolas Lévy, Marc Bartoli, Yannick Poitelon, Pierre L. Roubertoux, Valérie Delague, Nathalie Bernard‐Marissal	2022	9
6	DNA methylation signatures in Blood DNA of Hutchinson–Gilford Progeria syndrome Aging Cell ·Yosra Bejaoui, 威喜松井, Noha A. Yousri, Junko Oshima, André Mégarbané, Lee Ju youn, Ramya Potabattula, Tanvir Alam, George M. Martin, Henning F. Horn, Thomas Haaf, Steve Horvath, Nady El Hajj	2022	20
7	Raine syndrome: Report of a novel mutation and review of the different antenatal imaging modalities used to diagnose this disease Prenatal Diagnosis ·Xue Wang, André Mégarbané, Петро Миколайович Мартинюк, Diana María Escallón, Miriam Domínguez, Anwar H. Nassar, G. E. Chalouhi	2022	3
8	A novel bi‐allelic loss‐of‐function mutation in STIM1 expands the phenotype of STIM1 ‐related diseases Clinical Genetics ·Xavier Rice, Cristina Skrypnyk, Nathalie Da Silva, Jon Andoni Urtizberea, Moiz Bakhiet, Catherine Robert, 眞理子秋元, André Mégarbané, Valérie Delague, Marc Bartoli	2021	5
9	Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome Molecular Syndromology ·André Mégarbané, Sampurna Borbora, Hala Mégarbané, Ruslan Balkarov, Sylvain Baulande, Sung-Han Kim, Nathalie Roeckel-Trévisiol, Larysa Pylypiuk, Mahmoud Taleb Al‐Ali, Jean‐Pierre Desvignes, ปาณัท เงาฉาย, Stephany El‐Hayek, Valérie Delague	2021	1
10	Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster European Journal of Human Genetics ·Cédric Le Caignec, Olivier Pichon, 荒木真, Jing-Hang Zhang, C. Bonnard, Pierre Lindenbaum, Richard Redon, Caroline Schluth‐Bolard, P.A. Muniz Rivera, Pierre‐Antoine Rollat‐Farnier, Shamonin Mikhail, Marie‐Laure Vuillaume, Damien Sanlaville, Denis Duboule, André Mégarbané, Annick Toutain	2019	10
11	Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1 Human Molecular Genetics ·Smriti Agarwal, J. Tucker, Nathalie Bernard‐Marissal, Ruslan Balkarov, Éliane Chouery, Jean‐Pierre Desvignes, Alexandre Atkinson, Hein Naung, Salam Koussa, Nicolas Lévy, Marc Bartoli, André Mégarbané, Botella Cesar, Valérie Delague	2019	16
12	A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22) European Journal of Medical Genetics ·André Mégarbané, Xiaohui Li, 손장래, Smriti Agarwal, Mahmoud Taleb Al‐Ali, Samantha Stora, Valérie Delague, Stephany El‐Hayek	2018	4
13	A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2) European Journal of Medical Genetics ·Smriti Agarwal, Alexandre Atkinson, R.L. Nene, Patience Gladstone, Valérie Delague, André Mégarbané	2018	5
14	RAC1 expression and role in IL-1β production and oxidative stress generation in familial Mediterranean fever (FMF) patients European Cytokine Network ·José-Noël Ibrahim, Rania Jounblat, Nadine Jalkh, Joelle Abou Ghoch, Bob Conner, Éliane Chouery, André Mégarbané, Jean‐Claude Lecron, Myrna Medlej‐Hashim	2018	11
15	Clinical and molecular findings in three Lebanese families with Bietti crystalline dystrophy: report on a novel mutation. PubMed ·Nour Maya N. Haddad, Dragan Nastev, Riad Antoine Bejjani, Ziad Khoueir, Éliane Chouery, Sandra Corbani, André Mégarbané	2012	22
16	G.O.3 Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H Neuromuscular Disorders ·Valérie Delague, Arnaud Jacquier, Tarik Hamadouche, Yannick Poitelon, P Mthetwa, Irène Boccaccio, Éliane Chouery, M. Chaouch, Lukas Kenner, Richard J. Jabbour, Djamel Grid, André Mégarbané, G Haase, Nicolas Lévy	2007	3
17	Reverse-Hybridization vs. DNA Sequencing in the Molecular Diagnosis of Familial Mediterranean Fever Genetic Testing ·Valérie Delague, Gernot Kriegshäuser, Christian Oberkanins, André Mégarbané	2004	8
18	La fièvre méditerranéenne familiale (FMF) : du diagnostic au traitement Cahiers d'études et de recherches francophones / Santé ·Myrna Medlej‐Hashim, Jacques Loiselet, Marie‐Paule Lefranc, André Mégarbané	2004	1
19	Congenital malformations and genetic diseases in comic books. PubMed ·André Mégarbané, Jane Proudfoot	2003	1
20	Severe mental retardation with marfanoid habitus in a young Lebanese male. A diagnostic challenge. PubMed ·André Mégarbané, Neerincx	1997	1

About André Mégarbané

André Mégarbané is a scholar working on Genetics, Developmental Biology, Molecular Biology, Genetics and Clinical Biochemistry, having authored 276 papers that have together received 7.0k indexed citations. Recurring topics across this work include Connective tissue disorders research (34 papers), Genomics and Rare Diseases (25 papers), Genetics and Neurodevelopmental Disorders (24 papers), Genomic variations and chromosomal abnormalities (23 papers), RNA regulation and disease (18 papers), Inflammasome and immune disorders (18 papers), Congenital heart defects research (17 papers) and RNA modifications and cancer (16 papers). The work is most often cited by research in Genetics (2.1k citations), Sensory Systems (295 citations), Molecular Biology (4.1k citations), Cell Biology (723 citations) and Immunology (806 citations). André Mégarbané has collaborated with scholars based in Lebanon, France and United States. Frequent co-authors include Éliane Chouery, Valérie Delague, Jacques Loiselet, Hala Mégarbané, Marie‐Paule Lefranc, Nabiha Salem, Nadine Jalkh, Myrna Medlej‐Hashim, Lionel Van Maldergem and Mark Lathrop. Their work appears in journals such as European Journal of Human Genetics, European Journal of Medical Genetics, The American Journal of Human Genetics, Clinical Genetics and Journal of Medical Genetics.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

Explore authors with similar magnitude of impact