Marcella Devoto

Identification of ALK as a major familial neuroblastoma predisposition gene

Yaël P. Mossé, Marci Laudenslager, Luca Longo et al. · Nature · 2008 · 1.4K citations

Life Sciences, Genetics, Molecular Genetics +10

The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene

Rudolph E. Tanzi, Konstantin Petrukhin, Jean‐Luc Pellequer et al. · Nature Genetics · 1993 · 1.4K citations

Life Sciences, Genetics, Molecular Genetics +10

Complex genetic signatures in immune cells underlie autoimmunity and inform therapy

Valeria Orrù, Maristella Steri, Carlo Sidore et al. · Nature Genetics · 2020 · 1.2K citations · Full text

Life Sciences, Genetics, Immunology +16

A common molecular basis for three inherited kidney stone diseases

Sarah E. Lloyd, Simon H. S. Pearce, Simon E. Fisher et al. · Nature · 1996 · 726 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

Ian D. Krantz, Jennifer McCallum, Cheryl DeScipio et al. · Nature Genetics · 2004 · 722 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6