Giovanni Crichiutti

Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

Yanick J. Crow, Diana Chase, Johanna L. Schmidt et al. · American Journal of Medical Genetics Part A · 2015 · 613 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

The landscape of epilepsy-related GATOR1 variants

Sara Baldassari, Fabienne Picard, Nienke E. Verbeek et al. · Genetics in Medicine · 2018 · 239 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32

Michael Steffens, Costin Leu, Ann‐Kathrin Ruppert et al. · Human Molecular Genetics · 2012 · 151 citations · Full text

Life Sciences, Genetics, Human Genetics +15

Undiagnosed coeliac disease and risk of autoimmune disorders in subjects with Type I diabetes mellitus

Tarcisio Not, Alberto Tommasini, Giuseppe Tonini et al. · Diabetologia · 2001 · 130 citations · Full text

Medicine, Endocrinology, Internal Medicine +14

Association Between Childhood Migraine and History of Infantile Colic

Silvia Romanello, Daniele Spiri, Elena Marcuzzi et al. · JAMA · 2013 · 118 citations

Public Health, Child Health, Pediatrics +14