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 · Full text

Genetic Disorder, Genetics, Pathology +3

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

Mendelian Disorder, Disease Mechanism, Wilson Disease Gene +11

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

Immunogenetics, Autoimmune Disease, Allergy +12

A common molecular basis for three inherited kidney stone diseases

Sarah E. Lloyd, Simon H. S. Pearce, Simon E. Fisher et al. · Nature · 1996 · 717 citations · Full text

Urology, Genetic Disorder, Common Molecular Basis +10

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 · 715 citations · Full text

Genome Instability, Developmental Biology, Genetic Disorder +8