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European Journal of Medical Genetics|December 11, 2020
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variantClaudia Ciaccio, Valentina Duga, Chiara Pantaleoni, et al.
Plos One|November 17, 2011
Improving the estimation of celiac disease sibling risk by non-HLA genesValentina Izzo, Michele Pinelli, Nadia Tinto, et al.
American Journal of Medical Genetics. Part A|December 13, 2017
A child with Myhre syndrome presenting with corectopia and tetralogy of FallotMarianna Alagia, Gerarda Cappuccio, Michele Pinelli, et al.
Genes|October 21, 2017
Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal DiseasesPablo Llavona, Michele Pinelli, Margherita Mutarelli, et al.
Molecular Genetics & Genomic Medicine|April 12, 2019
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4Gerarda Cappuccio, Raffaella Brunetti-Pierri, Annalaura Torella, et al.
Birth Defects Research|May 28, 2020
Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorderAndrea Accogli, Marcello Scala, Marco Pavanello, et al.
Neurogenetics|September 2, 2011
Shorter telomeres in patients with cerebral autosomal dominant arteriopathy and leukoencephalopathy (CADASIL)Michele Ragno, Luigi Pianese, Michele Pinelli, et al.
Diabetes Care|January 30, 2007
Pro12Ala polymorphism of the PPARgamma2 locus modulates the relationship between energy intake and body weight in type 2 diabetic patientsOlga Vaccaro, Emanuela Lapice, Antonella Monticelli, et al.
American Journal of Medical Genetics. Part A|March 7, 2020
Expansion of the phenotype of lateral meningocele syndromeGerarda Cappuccio, Diletta Apuzzo, Marianna Alagia, et al.
American Journal of Human Genetics|June 10, 2015
Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic VariationRocio Acuna-Hidalgo, Tan Bo, Michael P Kwint, et al.
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