Institut de Morphologie Pathologique, Loverval

Top Publications

Top Publications Authored or Co-Authored in "Institut de Morphologie Pathologique, Loverval"

• 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 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
• Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene

  Journal of Medical Genetics, Volume 43, No. 2, Year 2006, Citations 203
• Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

  Nature Genetics, Volume 44, No. 5, Year 2012, Citations 159