Tobias Gedde‐Dahl

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

Jocelyne Magré, Marc Délepine, Eliane Khallouf et al. · Nature Genetics · 2001 · 744 citations

Genetic Disorder, Genetics, Pathology +7

International nosology of heritable disorders of connective tissue, Berlin, 1986

Peter Beighton, A. De Paepe, D. M. Danks et al. · American Journal of Medical Genetics · 1988 · 729 citations

Gross Anatomy, Mendelian Disorder, Histopathology +6

Osteosarcoma and retinoblastoma: a shared chromosomal mechanism revealing recessive predisposition.

Mark Hansen, Alex Koufos, Brenda L. Gallie et al. · Proceedings of the National Academy of Sciences · 1985 · 420 citations · Full text

Tumoral Pathology, Somatic Variant, Tumor Heterogeneity +13

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Asbjørg Stray‐Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon et al. · Journal of Allergy and Clinical Immunology · 2016 · 269 citations · Full text

Primary Immunodeficiency, Mendelian Disorder, Autoimmune Disease +9

Genes and languages in Europe: an analysis of mitochondrial lineages.

Antti Sajantila, Päivi Lahermo, Tiiu Anttinen et al. · Genome Research · 1995 · 247 citations · Full text

Comparative Genomics, Genetics, Gene Frequencies +18