Identification of <i>de novo</i> mutations and rare variants in hypoplastic left heart syndrome

Maria Iascone, Roberto Ciccone, Lorenzo Galletti, +12

Clinical Genetics

Heart FailureHeart SyndromeGeneticsPathologyMolecular Genetics +17

Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis

Ángela López‐Sainz, Fernándo Domínguez, Luís R. Lopes, +120

Journal of the American College of Cardiology

CardiomyopathyHeart FailurePathologyClinical FeaturesMedicine +3

Sea level in the Mediterranean: a first step towards separating crustal movements and absolute sea-level variations

Susanna Zerbini, Hans‐Peter Plag, T. F. Baker, +13

Global and Planetary Change

GeophysicsMarine GeologySea-level ChangeEngineeringSeafloor Morphology +11

Novel α-Actinin 2 Variant Associated With Familial Hypertrophic Cardiomyopathy and Juvenile Atrial Arrhythmias

Francesca Girolami, Maria Iascone, Benedetta Tomberli, +13

Circulation Cardiovascular Genetics

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

Clinical Profile of Cardiac Involvement in Danon Disease

Dor Lotan, Joel Salazar‐Mendiguchía, Jens Mogensen, +39

Circulation Genomic and Precision Medicine

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

Atypical presentation of pediatric <i>BRAF</i> RASopathy with acute encephalopathy

Lidia Pezzani, Daniela Marchetti, Anna Cereda, +10

American Journal of Medical Genetics Part A

Role of Preoperative Cardiovascular Magnetic Resonance in Planning Ventricular Septal Myectomy in Patients With Obstructive Hypertrophic Cardiomyopathy

Paolo Spirito, Irene Binaco, Daniele Poggio, +12

The American Journal of Cardiology

CardiomyopathyHeart FailureCardiac PathologyObstructive Hypertrophic CardiomyopathySurgery +4

Atypical, Composite, or Blended Phenotypes: How Different Molecular Mechanisms Could Associate in Double-Diagnosed Patients

Erica Rosina, Lidia Pezzani, Laura Pezzoli, +10

Genes