Maria Accadia

Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

Lucia Micale, Bartolomeo Augello, Carmela Fusco et al. · Orphanet Journal of Rare Diseases · 2011 · 99 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis

Christine P. Diggle, David Parry, Clare V. Logan et al. · Human Mutation · 2012 · 97 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Structural, Functional, and Clinical Characterization of a Novel<i>PTPN11</i>Mutation Cluster Underlying Noonan Syndrome

Luca Pannone, Gianfranco Bocchinfuso, Elisabetta Flex et al. · Human Mutation · 2017 · 54 citations · Full text

Life Sciences, Biochemistry, Genetics +17

Effect of Pacing the Right Ventricular Mid‐Septum Tract in Patients with Permanent Atrial Fibrillation and Low Ejection Fraction

Carmine Muto, Luca Ottaviano, Michelangelo Canciello et al. · Journal of Cardiovascular Electrophysiology · 2007 · 51 citations

Medicine, Cardiology, Cardiothoracic Surgery +10

Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants

Alessandro Mussa, Chiara Leoni, Matteo Iacoviello et al. · Journal of Medical Genetics · 2022 · 51 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17