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Human Genomics|November 6, 2024
Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing dataFerdinando Bonfiglio, Andrea Legati, Vito Alessandro Lasorsa, et al.
Cancers|February 10, 2024
miRNA-221 and miRNA-483-3p Dysregulation in Esophageal AdenocarcinomaIsotta Bozzarelli, Arianna Orsini, Federica Isidori, et al.
Gastroenterology|August 22, 2024
Glutamine Supplementation as a Novel Metabolic Therapeutic Strategy for LIG3-Dependent Chronic Intestinal Pseudo-ObstructionChiara Diquigiovanni, Nicola Rizzardi, Erica Cataldi-Stagetti, et al.
Frontiers in Molecular Biosciences|May 26, 2023
Resources and tools for rare disease variant interpretationLuana Licata, Allegra Via, Paola Turina, et al.
International Journal of Cancer|April 20, 2018
Mutant MYO1F alters the mitochondrial network and induces tumor proliferation in thyroid cancerChiara Diquigiovanni, Christian Bergamini, Cecilia Evangelisti, et al.
International Journal of Cardiology|January 24, 2025
A single RBM20 missense variant is a potential contributor to dilated cardiomyopathy and/or isolated left ventricular dilatation in the Emilia Romagna region of ItalySamuela Carigi, Giulia Olivucci, Carlotta Pia Cristalli, et al.
Cancers|March 11, 2023
Correlations between Molecular Alterations, Histopathological Characteristics, and Poor Prognosis in Esophageal AdenocarcinomaArianna Orsini, Luca Mastracci, Isotta Bozzarelli, et al.
European Journal of Human Genetics : EJHG|May 3, 2024
COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstructionIlaria Pettenuzzo, Sara Carli, Ana Sánchez-Cuesta, et al.
American Journal of Medical Genetics. Part A|September 12, 2025
De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental DisorderSamuel M Bradbrook, Gail Graham, Melissa T Carter, et al.
Brain : a Journal of Neurology|April 15, 2021
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathyElena Bonora, Sanjiban Chakrabarty, Georgios Kellaris, et al.
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