Concepedia

Author

Monia Magliozzi

Istituti di Ricovero e Cura a Carattere Scientifico

Also Known As

M Magliozzi, Michela Semeraro, Monia Magliozzi

34

Publications

358

Citations

10

H-Index

19

Concepts

All Affiliations

Istituti di Ricovero e Cura a Carattere ScientificoBambino Gesù Children's HospitalSapienza University of RomeCasa Sollievo della SofferenzaPediatrics and Genetics
MM

About

Monia Magliozzi is an author at Istituti di Ricovero e Cura a Carattere Scientifico specializing in medicine, genetics, and cardiovascular disease.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

4

4

143

2

Public Health

2

2

49

3

Biostatistics

1

1

22

4

Molecular Biology

1

1

22

5

Molecular Genetics

1

1

22

Monia Magliozzi

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9

Publications

272

Citations

9

H-Index

YearCitations

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

Maria Cecilia D’Asdia, Isabella Torrente, Federica Consoli,

European Journal of Medical Genetics

2012

77

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

Luca Pannone, Gianfranco Bocchinfuso, Elisabetta Flex,

Human Mutation

2017

51

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

Miryam Carecchio, Monia Magliozzi, Massimiliano Copetti,

Movement Disorders

2013

37

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

Najim Lahrouchi, Alex V. Postma, Christian Salazar,

Journal of Clinical Investigation

2021

27

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

Luciana Chessa, Maria Piane, Monia Magliozzi,

Annals of Human Genetics

2009

22

DHPLC Screening of <i>ATM</i> Gene in Italian Patients Affected by Ataxia‐Telangiectasia: Fourteen Novel <i>ATM</i> Mutations

Monia Magliozzi, Maria Piane, Isabella Torrente,

Disease Markers

2006

18

Arrhythmogenic cardiomyopathy in children according to “Padua criteria”: Single pediatric center experience

Marianna Cicenia, Nicoletta Cantarutti, Rachele Adorisio,

International Journal of Cardiology

2022

17

Cardiovascular Involvement in Pediatric Laminopathies. Report of Six Patients and Literature Revision

Anwar Baban, Marianna Cicenia, Monia Magliozzi,

Frontiers in Pediatrics

2020

13

Delayed appearance of 3‐methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis

Anwar Baban, Rachele Adorisio, Bernadette Corica,

American Journal of Medical Genetics Part A

2019

10

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