Claudine Junien

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

Marianne Abifadel, Mathilde Varret, Jean‐Pierre Rabès et al. · Nature Genetics · 2003 · 3K citations

Genetic Disorder, Genetics, Pathology +4

Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome

Jerry Pelletier, Wendy Bruening, Clifford E. Kashtan et al. · Cell · 1991 · 951 citations

Developmental Biology, Genetic Disorder, Genetics +10

Heterozygous TGFBR2 mutations in Marfan syndrome

Takeshi Mizuguchi, Gwenaëlle Collod‐Béroud, Takushi Akiyama et al. · Nature Genetics · 2004 · 612 citations · Full text

Marfan Syndrome, Mendelian Disorder, Genetic Disorder +4

Uniparental paternal disomy in a genetic cancer-predisposing syndrome

Isabelle Henry, Catherine Bonaïti‐Pellié, V. Chéhensse et al. · Nature · 1991 · 422 citations

Infertility, Genetic Disorder, Genetics +3

Placental contribution to the origins of sexual dimorphism in health and diseases: sex chromosomes and epigenetics

Anne Gabory, Tessa J. Roseboom, Tom Moore et al. · Biology of Sex Differences · 2013 · 325 citations · Full text