Grazia M.S. Mancini

A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases

Frans W. Verheijen, Elly Verbeek, Nina Aula et al. · Nature Genetics · 1999 · 292 citations

Anion Transporter, Genetic Disorder, Natural Sciences +12

Mutations in the Gene Encoding Capillary Morphogenesis Protein 2 Cause Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis

Sandra Hanks, Sarah Adams, Jenny Douglas et al. · The American Journal of Human Genetics · 2003 · 240 citations · Full text

Fibrosis, Developmental Biology, Infantile Systemic Hyalinosis +6

<scp>USP</scp> 18 lack in microglia causes destructive interferonopathy of the mouse brain

Tobias Goldmann, Nicolas Zeller, Jenni Raasch et al. · The EMBO Journal · 2015 · 236 citations · Full text

Molecular Neuroscience, Medicine, Immunology +8

Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females

Eric D. Marsh, Carl T. Fulp, Ernest Gomez et al. · Brain · 2009 · 207 citations · Full text

Homozygous Nonsense Mutations in KIAA1279 Are Associated with Malformations of the Central and Enteric Nervous Systems

Alice S. Brooks, Aida M. Bertoli‐Avella, Grzegorz Burzynski et al. · The American Journal of Human Genetics · 2005 · 148 citations · Full text

Developmental Anomaly, Developmental Biology, Neurogenomics +10