Maria Cristina Mazzilli

Multiple common variants for celiac disease influencing immune gene expression

P Dubois, Gosia Trynka, Lude Franke et al. · Nature Genetics · 2010 · 1K citations · Full text

Allelic Variant, Autoimmune Disease, Immunodeficiencies +10

Syndromic true hermaphroditism due to an R-spondin1 (<i>RSPO1</i>) homozygous mutation

Sara Tomaselli, Francesca Megiorni, Carmelilia De Bernardo et al. · Human Mutation · 2007 · 275 citations

Developmental Biology, Mendelian Disorder, Sex Determination +13

Patchy Villous Atrophy of the Duodenum in Childhood Celiac Disease

Margherita Bonamico, P. Mariani, E Thanasi et al. · Journal of Pediatric Gastroenterology and Nutrition · 2004 · 190 citations

HLA-DQ and risk gradient for celiac disease

Francesca Megiorni, Barbara Mora, Margherita Bonamico et al. · Human Immunology · 2008 · 179 citations

Autoimmune Disease, Clinical Presentation, Gastroenterology +4

Improving coeliac disease risk prediction by testing non-HLA variants additional to HLA variants

Jihane Romanos, Anna Rosén, Vinod Kumar et al. · Gut · 2013 · 127 citations · Full text