Monia Magliozzi

Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis

Maria Cecilia D’Asdia, Isabella Torrente, Federica Consoli et al. · European Journal of Medical Genetics · 2012 · 77 citations

Developmental Biology, Genetic Disorder, Genetics +5

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 · 51 citations · Full text

Defining the Epsilon‐Sarcoglycan (SGCE) Gene Phenotypic Signature in Myoclonus‐Dystonia: A Reappraisal of Genetic Testing Criteria

Miryam Carecchio, Monia Magliozzi, Massimiliano Copetti et al. · Movement Disorders · 2013 · 37 citations

Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy

Najim Lahrouchi, Alex V. Postma, Christian Salazar et al. · Journal of Clinical Investigation · 2021 · 27 citations · Full text

Cardiomyopathy, Heart Failure, Developmental Biology +15

Founder Effects for <i>ATM</i> Gene Mutations in Italian Ataxia Telangiectasia Families

Luciana Chessa, Maria Piane, Monia Magliozzi et al. · Annals of Human Genetics · 2009 · 22 citations

Recurrent Mutation, Genetics, Haplotype Analysis +16