André Mégarbané
Fondation Jérôme-Lejeune(FR)Lebanese American University(LB)
Publications by Year
Research Areas
Genomics and Rare Diseases, Connective tissue disorders research, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Immunodeficiency and Autoimmune Disorders
Most-Cited Works
- → Identification of the gene altered in Berardinelli–Seip congenital lipodystrophy on chromosome 11q13(2001)746 cited
- → Mutations in the Pericentrin ( PCNT ) Gene Cause Primordial Dwarfism(2008)393 cited
- → Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome(2007)367 cited
- → Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report(2011)337 cited
- → Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production(2015)332 cited
- → Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation(2016)306 cited