André Mégarbané

Lebanese American University — LB

Biochemistry, Genetics and Molecular Biology · Life Sciences

70h-index17.0kcitations494works0.62yr avg
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Research Topics

Connective tissue disorders research(46), Genomics and Rare Diseases(45), Genetics and Neurodevelopmental Disorders(37), Genomic variations and chromosomal abnormalities(35), Immunodeficiency and Autoimmune Disorders(26)

Publications491 total

Genetic Carrier Burden in Neonatal Screening Genes: Evidence of Elevated Pathogenic Variant Frequency in the Lebanese population
2026Open Access
Bullae and Scales in a Newborn
JEADV Clinical Practice·2025Open Access
Blended Phenotypes in Siblings: Dual Diagnoses of Nicolaides-Baraitser and Craniosynostosis Syndromes
Molecular Syndromology·2025Open Access
Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxia
Genetics in Medicine·2025· 1 cited
AMPD2 deficiency implicates cytosolic purine metabolism in the pathogenesis of Leigh syndrome
2025Open Access
Recurrent nonsense p.Trp3416* variant in the <i>DMD</i> gene identified in healthy Lebanese individuals: Implications for variant classification and genotype-phenotype correlations
Journal of Neuromuscular Diseases·2025Open Access
Clinical and molecular findings in actin-related inborn errors of immunity: the middle East and North Africa registry
Frontiers in Genetics·2025Open Access
Bi-allelic mutations in <i>KCTD11</i> cause a new form of autosomal recessive intermediate Charcot-Marie-Tooth disease
2025Open Access
Gut Microbial Similarity Analysis in Mono and Dizygotic Twins Discordant for Down Syndrome
OBM Genetics·2025Open Access
Investigating telomere length in progeroid syndromes: implications for aging disorders
Aging·2025· 1 citedOpen Access
Endophilin-A2 Deficiency Impairs Antibody Production in Humans
Journal of Human Immunity·2025Open Access
Certain vs. uncertain actionable secondary findings in a cohort of 500 Lebanese participants: What to report to the patient?
PubMed·2025Open Access
Endophilin A2 Deficiency Impairs Antibody Production In Humans: A Novel Finding In A Lebanese Family+
OncoDaily Medical Journal·2025Open Access
Predicting Consanguinity Rates from Exome Sequencing Data in the Lebanese Population
Journal of Molecular Diagnostics·2024· 2 cited
Co-Occurrence of Variants in 3 Genes in a Patient with Congenital Skeletal Dysplasia and Cardiac Anomalies: Diagnostic Challenge Posed by a Blended Phenotype
Molecular Syndromology·2024· 1 citedOpen Access
Rachitisme de type II dépendant de la vitamine D avec alopécie
Annales de Dermatologie et de Vénéréologie - FMC·2024
Endophilin A2 Deficiency Impairs Antibody Production in Humans
Journal of Clinical Immunology·2024· 2 citedOpen Access
Neurofibromatosis type-2-related schwannomatosis presenting as peripapillary hamartoma: report on a novel <i>NF2</i> mutation
Ophthalmic Genetics·2024
POLD3 haploinsufficiency is linked to non-syndromic sensorineural adult-onset progressive hearing and balance impairments
European Journal of Human Genetics·2024· 2 citedOpen Access
Expanding the phenotypes of <i>ABL1</i> deficiency syndromes: When mutations in different isoforms Lead to different diseases
Clinical Genetics·2024
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Frequent Co-authors

Éliane Chouery(12), Valérie Cormier‐Daire(8), Valérie Delague(8), Arnold Münnich(7), Alain Verloès(6), Laurence Faivre(6), Raoul C. M. Hennekam(5), Lionel Van Maldergem(4), Sylvie Odent(4), Hélène Dollfus(4), Marie‐Paule Lefranc(4), Martine Le Merrer(4), Tania Attié‐Bitach(4), Stefan Mundlos(3), Didier Lacombe(3), Céline Huber(3), Nadine Jalkh(3), Yasemin Alanay(3), Geert Mortier(3), Colin A. Johnson(3)