| Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia L Adaimy, E Chouery, H Mégarbané, S Mroueh, V Delague, E Nicolas, ... The American Journal of Human Genetics 81 (4), 821-828, 2007 | 299 | 2007 |
| Homozygous mutation of the IGF1 receptor gene in a patient with severe pre-and postnatal growth failure and congenital malformations MH Gannagé-Yared, J Klammt, E Chouery, S Corbani, H Mégarbané, ... European Journal of Endocrinology 168 (1), K1-K7, 2013 | 72 | 2013 |
| Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome H Mégarbané, A Mégarbané Orphanet Journal of Rare Diseases 6, 1-5, 2011 | 67 | 2011 |
| A p. C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model S Claus, J Fischer, H Mégarbané, A Mégarbané, F Jobard, R Debret, ... Journal of investigative dermatology 128 (6), 1442-1450, 2008 | 56 | 2008 |
| Genotype–Phenotype Correlations Emerging from the Identification of Missense Mutations in MBTPS2 D Bornholdt, TP Atkinson, B Bouadjar, B Catteau, H Cox, D De Silva, ... Human mutation 34 (4), 587-594, 2013 | 45 | 2013 |
| Ocular findings in ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome E Traboulsi, N Waked, H Mégarbané, A Mégarbané Ophthalmic genetics 25 (2), 153-156, 2004 | 43 | 2004 |
| Congenital erythropoietic porphyria: report of a novel mutation with absence of clinical manifestations in a homozygous mutant sibling C Ged, H Mégarbané, E Chouery, M Lalanne, A Mégarbané, ... Journal of investigative dermatology 123 (3), 589-591, 2004 | 39 | 2004 |
| Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: report of a new family with additional features and review H Mégarbané, C Zablit, N Waked, G Lefranc, R Tomb, A Mégarbané American Journal of Medical Genetics Part A 124 (3), 323-327, 2004 | 38 | 2004 |
| Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene H Mégarbané, C Cluzeau, C Bodemer, S Fraïtag, M Chababi‐Atallah, ... American Journal of Medical Genetics Part A 146 (20), 2657-2662, 2008 | 34 | 2008 |
| Two Observations Raising Questions about Risk Factors of Cutaneous Necrosis Induced by Terlipressin (Glypressin®) H Mégarbané, S Barete, K Khosrotehrani, H Izzedine, P Moguelet, ... Dermatology 218 (4), 334-337, 2009 | 33 | 2009 |
| Further delineation of the odonto–onycho–dermal dysplasia syndrome H Mégarbané, M Haddad, V Delague, J Renoux, N Boehm, A Mégarbané American Journal of Medical Genetics Part A 129 (2), 193-197, 2004 | 33 | 2004 |
| Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases P Nair, S Sabbagh, H Mansour, A Fawaz, G Hmaimess, P Noun, ... Molecular Genetics & Genomic Medicine 6 (6), 1041-1052, 2018 | 32 | 2018 |
| An autosomal-recessive form of cutis laxa is due to homozygous elastin mutations, and the phenotype may be modified by a heterozygous fibulin 5 polymorphism H Mégarbané, J Florence, JO Sass, S Schwonbeck, M Foglio, R De Cid, ... Journal of investigative dermatology 129 (7), 1650-1655, 2009 | 32 | 2009 |
| Neonatal rhabdomyosarcoma misdiagnosed as a congenital hemangioma H Megarbane, F Doz, Y Manach, C Fletcher, F Jaubert, Y de Prost, ... Pediatric dermatology 28 (3), 299-301, 2011 | 20 | 2011 |
| Temporary henna tattoos and hypertrichosis: A case report and review of the literature C El Habr, H Mégarbané Journal of Dermatological Case Reports 9 (2), 36, 2015 | 16 | 2015 |
| X-linked reticulate pigmentary layer. Report of a new patient and demonstration of a skewed X-inactivation. H Mégarbané, N Boehm, E Chouery, R Bernard, N Salem, E Halaby, ... Genetic counseling (Geneva, Switzerland) 16 (1), 85-89, 2005 | 15 | 2005 |
| Craniosynostosis, anal anomalies, and porokeratosis (CDAGS syndrome): case report and literature review E Chouery, C Guissart, H Mégarbané, B Aral, C Nassif, ... European Journal of Medical Genetics 56 (12), 674-677, 2013 | 12 | 2013 |
| Drug-induced linear IgA bullous dermatosis simulating toxic epidermal necrolysis. J Nasr, A Ammoury, C Chouairy, H Mégarbané, C El Habr Le Journal Medical libanais. The Lebanese Medical Journal 62 (3), 176-179, 2014 | 10 | 2014 |
| New autosomal recessive syndrome with short stature and facio–auriculo–thoracic malformations A Mégarbané, L Daou, H Mégarbané, H Cave, E Chouery, A Verloes American Journal of Medical Genetics Part A 128 (4), 414-417, 2004 | 8 | 2004 |
| Dermatitis artefacta. Report of seven cases H Megarbane, R Tomb, E Makhoul, E Halaby Le Journal medical libanais. The Lebanese medical journal 51 (1), 9-14, 2003 | 5 | 2003 |
