Judith Fischer

Mutations in CGI-58, the Gene Encoding a New Protein of the Esterase/Lipase/Thioesterase Subfamily, in Chanarin-Dorfman Syndrome

Caroline Lefèvre, Florence Jobard, F. Caux et al. · The American Journal of Human Genetics · 2001 · 460 citations · Full text

Mendelian Disorder, Biochemistry, Genetic Disorder +10

The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy

Judith Fischer, Caroline Lefèvre, Éva Morava et al. · Nature Genetics · 2006 · 457 citations

Metabolic Syndrome, Lipid Metabolism, Biochemistry +9

DNA Methylation Profiling of the Human Major Histocompatibility Complex: A Pilot Study for the Human Epigenome Project

Vardhman K. Rakyan, Thomas Hildmann, Karen Novik et al. · PLoS Biology · 2004 · 360 citations · Full text

PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans

Anaïs Grall, Éric Guaguère, Sandrine Planchais et al. · Nature Genetics · 2012 · 244 citations · Full text

Genetic Disorder, Genetics, Pathogenesis +4

Mutations in the gene encoding SLURP-1 in Mal de Meleda

Judith Fischer · Human Molecular Genetics · 2001 · 224 citations · Full text

Genetics, Dermatoglyphic, Genomic Mechanism +17