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Genome Biology|November 1, 2013
EXCAVATOR: detecting copy number variants from whole-exome sequencing dataAlberto Magi, Lorenzo Tattini, Ingrid Cifola, et al.Gene|January 20, 2015
Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variantClaudio Graziano, Anita Wischmeijer, Tommaso Pippucci, et al.Neurogastroenterology and Motility|May 31, 2019
Gut epithelial and vascular barrier abnormalities in patients with chronic intestinal pseudo-obstructionElisa Boschetti, Anna Accarino, Carolina Malagelada, et al.Neurogastroenterology and Motility|February 6, 2020
Mast cell-nerve interactions correlate with bloating and abdominal pain severity in patients with non-celiac gluten / wheat sensitivityFiorella Giancola, Umberto Volta, Roberta Repossi, et al.Proceedings of the National Academy of Sciences of the United States of America|May 23, 2007
Disruptive mitochondrial DNA mutations in complex I subunits are markers of oncocytic phenotype in thyroid tumorsGiuseppe Gasparre, Anna Maria Porcelli, Elena Bonora, et al.Journal of Internal Medicine|February 27, 2026
Collagen and microvascular alterations contribute to neuromuscular degeneration and disease progression in chronic intestinal pseudo-obstructionElisa Boschetti, Irene Neri, Leonardo Caporali, et al.Clinical Genetics|December 21, 2024
Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily PracticeGiovanni Innella, Emanuele Coccia, Carlotta Pia Cristalli, et al.Genome Research|June 16, 2022
<i>HDAC9</i> structural variants disrupting <i>TWIST1</i> transcriptional regulation lead to craniofacial and limb malformationsNaama Hirsch, Idit Dahan, Eva D'haene, et al.FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|July 18, 2019
A novel mutation in <i>SPART</i> gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolismChiara Diquigiovanni, Christian Bergamini, Rebeca Diaz, et al.Human Molecular Genetics|December 25, 2007
Clonal expansion of mutated mitochondrial DNA is associated with tumor formation and complex I deficiency in the benign renal oncocytomaGiuseppe Gasparre, Eric Hervouet, Elodie de Laplanche, et al.Pageof 9