Megarbane, Andre

Top Publications

Top Publications Authored or Co-Authored by "Megarbane, Andre"

• Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13

  Nature Genetics, Volume 28, No. 4, Year 2001, Citations 694
• Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

  Science, Volume 319, No. 5864, Year 2008, Citations 382
• Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

  American Journal of Human Genetics, Volume 80, No. 2, Year 2007, Citations 309
• BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

  Nature Genetics, Volume 38, No. 5, Year 2006, Citations 300
• ADAMTS10 mutations in autosomal recessive weill-marchesani syndrome

  American Journal of Human Genetics, Volume 75, No. 5, Year 2004, Citations 262