Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1

Immacolata Andolfo, Seth L. Alper, Lucia De Franceschi, +19

Blood

Clinical Effects of Driver Somatic Mutations on the Outcomes of Patients With Myelodysplastic Syndromes Treated With Allogeneic Hematopoietic Stem-Cell Transplantation

Matteo Giovanni Della Porta, Anna Gallì, Andrea Bacigalupo, +34

Journal of Clinical Oncology

A machine learning approach based on ACMG/AMP guidelines for genomic variant classification and prioritization

Giovanna Nicora, Susanna Zucca, Ivan Limongelli, +2

Scientific Reports

MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome

Annalisa Vetro, Salvatore Savasta, Annalisa Russo Raucci, +12

European Journal of Human Genetics

ChromatinGenome InstabilityMeier-gorlin SyndromeMendelian DisorderNew Actor +9

PaPI: pseudo amino acid composition to score human protein-coding variants

Ivan Limongelli, Simone Marini, Riccardo Bellazzi

BMC Bioinformatics

Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform

Erika Della Mina, Roberto Ciccone, Francesca Brustia, +15

European Journal of Human Genetics

Long-read SequencingMolecular DiagnosisFunctional GenomicsSequencingEngineering +11

CardioVAI: An automatic implementation of ACMG-AMP variant interpretation guidelines in the diagnosis of cardiovascular diseases

Giovanna Nicora, Ivan Limongelli, Patrick Gambelli, +6

Human Mutation

Heart FailureCardio Variant InterpreterGeneticsGenetic EpidemiologyDiagnosis +24

Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure

María Andrea Desbats, Annalisa Vetro, Ivan Limongelli, +14

European Journal of Human Genetics

Inherited Metabolic DiseasePathogenesisPediatricsPathologyMedicine

Loss-of-Function<i>FANCL</i>Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association

Annalisa Vetro, Maria Iascone, Ivan Limongelli, +16

Human Mutation

Fanconi AnemiaDevelopmental BiologyMendelian DisorderSevere Fanconi AnemiaMedicine +12

Big Data as a Driver for Clinical Decision Support Systems: A Learning Health Systems Perspective

Arianna Dagliati, Valentina Tibollo, Lucia Sacchi, +9

Frontiers in Digital Humanities

EngineeringBig Data ModelLearning Health SystemsData ScienceData Integration +14