Van-Maldergem, Lionel

Top Publications

Top Publications Authored or Co-Authored by "Van-Maldergem, Lionel"

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

  Nature Genetics, Volume 28, No. 4, Year 2001, Citations 694
• Impaired glycosylation and cutis laxa caused by mutations in the vesicular H⁺-ATPase subunit ATP6V0A2

  Nature Genetics, Volume 40, No. 1, Year 2008, Citations 340
• Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1

  Nature Genetics, Volume 29, No. 1, Year 2001, Citations 301
• Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy

  Journal of Medical Genetics, Volume 39, No. 10, Year 2002, Citations 257
• Mutations in PYCR1 cause cutis laxa with progeroid features

  Nature Genetics, Volume 41, No. 9, Year 2009, Citations 230