Concepedia

Judith Fischer

JF

Statistics

Publications

72

Citations

5.1K

H-Index

37

Active since

1997

Affiliations

University Medical Center Freiburg(Current)

University of Freiburg

Centre National de Recherche en Génomique Humaine

Genethon (France)

Hôpital Saint-Louis

Judith Fischer is an author at University Medical Center Freiburg specializing in life sciences, genetics, and human genetics.

ORCID

Publications per year

1997–2023

72

Publications

72

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 · 463 citations · Full text

, , +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 · 461 citations

, , +14

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 · 361 citations · Full text

, , +15

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

Anaïs Grall, Éric Guaguère, Sandrine Planchais et al. · Nature Genetics · 2012 · 247 citations · Full text

, , +9

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

Judith Fischer · Human Molecular Genetics · 2001 · 225 citations · Full text

, , +15

1–5 of 72