Marco Savarese

Affiliations

Folkhälsan Research Center, Helsinki, Finland.

Publications (24)

Improving Copy Number Variant Detection from Sequencing Data with a Combination of Programs and a Predictive Model.

The Journal of molecular diagnostics : JMD

Avec: Salla Välipakka , Marco Savarese , Lydia Sagath , Meharji Arumilli , Teresa Giugliano , Bjarne Udd , Peter Hackman

Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations.

Annals of neurology

Avec: Marco Savarese , Johanna Palmio , Juan José Poza , Jan Weinberg , Montse Olive , Ana Maria Cobo , Anna Vihola , Per Harald Jonson , Jaakko Sarparanta , Federico García-Bragado , Jon Andoni Urtizberea , Peter Hackman , Bjarne Udd

Morphological analysis of the brain subcortical gray structures in restless legs syndrome.

Sleep medicine

Avec: Maria P Mogavero , Domenico M Mezzapesa , Mariantonietta Savarese , Lourdes M DelRosso , Giuseppe Lanza , Raffaele Ferri

Online Fake News about Food: Self-Evaluation, Social Influence, and the Stages of Change Moderation.

International journal of environmental research and public health

Avec: Greta Castellini , Mariarosaria Savarese , Guendalina Graffigna

Taking care of dying patients through an 'interprofessional ecosystem': a grounded theory study on the experience of an interprofessional team in palliative care.

Scandinavian journal of caring sciences

Avec: Chiara Taffurelli , Serena Barello , Vittoria Cervantes Camacho , Maria Bertuol , Mariarosaria Savarese , Giovanna Artioli

Out-of-Frame Mutations in

Neurology. Genetics

Avec: Marco Savarese , Anna Vihola , Manu E Jokela , Sanna Pauliina Huovinen , Simonetta Gerevini , Annalaura Torella , Mridul Johari , Marina Scarlato , Per Harald Jonson , Maria Elena Onore , Peter Hackman , Mathias Gautel , Vincenzo Nigro , Stefano Carlo Previtali , Bjarne Udd

Free Energy Profiles of Proton Transfer Reactions: Density Functional Benchmark from Biased Ab Initio Dynamics.

Journal of chemical theory and computation

Avec: Éric Brémond , Marika Savarese , Nadia Rega , Ilaria Ciofini , Carlo Adamo

Measuring citizens' engagement during emergencies: Psychometric validation of the Public Health Engagement Scale for Emergency Settings (PHEs-E).

PloS one

Avec: Guendalina Graffigna , Lorenzo Palamenghi , Serena Barello , Mariarosaria Savarese , Greta Castellini , Edoardo Lozza , Andrea Bonanomi

Aggressiveness in the dreams of drug-naïve and clonazepam-treated patients with isolated REM sleep behavior disorder.

Sleep medicine

Avec: Simone Cavallotti , Hans-Christian Stein , Mariantonietta Savarese , Michele Terzaghi , Armando D'Agostino

Extension of the DNAJB2a isoform in a dominant neuromyopathy family.

Human molecular genetics

Avec: Jaakko Sarparanta , Per Harald Jonson , Jens Reimann , Anna Vihola , Helena Luque , Sini Penttilä , Mridul Johari , Marco Savarese , Peter Hackman , Cornelia Kornblum , Bjarne Udd

Rare

medRxiv : the preprint server for health sciences

Avec: Johanna Ranta-Aho , Kevin J Felice , Per Harald Jonson , Jaakko Sarparanta , Johanna Palmio , Giorgio Tasca , Mario Sabatelli , Cédric Yvorel , Ines Harzallah , Renaud Touraine , Lynn Pais , Christina A Austin-Tse , Vijay Ganesh , Melanie C O'Leary , Heidi L Rehm , Michael K Hehir , Sub Subramony , Qian Wu , Bjarne Udd , Marco Savarese

Revealing myopathy spectrum: integrating transcriptional and clinical features of human skeletal muscles with varying health conditions.

Communications biology

Avec: Huahua Zhong , Veronica Sian , Mridul Johari , Shintaro Katayama , Ali Oghabian , Per Harald Jonson , Peter Hackman , Marco Savarese , Bjarne Udd

Mutation update for the ACTN2 gene.

Human mutation

Avec: Johanna Ranta-Aho , Montse Olive , Marie Vandroux , Giorgia Roticiani , Cristina Dominguez , Mridul Johari , Annalaura Torella , Johann Böhm , Janina Turon , Vincenzo Nigro , Peter Hackman , Jocelyn Laporte , Bjarne Udd , Marco Savarese

Titin copy number variations associated with dominant inherited phenotypes.

Journal of medical genetics

Avec: Aurélien Perrin , Corinne Métay , Marco Savarese , Rabah Ben Yaou , German Demidov , Isabelle Nelson , Guilhem Solé , Yann Péréon , Enrico Silvio Bertini , Fabiana Fattori , Adele D'Amico , Federica Ricci , Mira Ginsberg , Andreea Seferian , Odile Boespflug-Tanguy , Laurent Servais , Françoise Chapon , Emmeline Lagrange , Karen Gaudon , Adrien Bloch , Robin Ghanem , Lucie Guyant-Maréchal , Mridul Johari , Charles Van Goethem , Michel Fardeau , Raul Juntas Morales , Casie A Genetti , Minttu Marttila , Michel Koenig , Alan H Beggs , Bjarne Udd , Gisèle Bonne , Mireille Cossée

Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.

Annals of clinical and translational neurology

Avec: Shruthi Mohan , Shannon McNulty , Courtney Thaxton , Marwa Elnagheeb , Emma Owens , May Flowers , Teagan Nunnery , Autumn Self , Brooke Palus , Svetlana Gorokhova , April Kennedy , Zhiyv Niu , Mridul Johari , Alassane Baneye Maiga , Kelly Macalalad , Amanda R Clause , Jacques S Beckmann , Lucas Bronicki , Sandra T Cooper , Vijay S Ganesh , Peter B Kang , Akanchha Kesari , Monkol Lek , Jennifer Levy , Laura Rufibach , Marco Savarese , Melissa J Spencer , Volker Straub , Giorgio Tasca , Conrad C Weihl

Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy.

bioRxiv : the preprint server for biology

Assessing consumers' attitudes, expectations and intentions towards health and sustainability regarding seafood consumption in Italy.

The Science of the total environment

Avec: Gabriele Sacchettini , Greta Castellini , Guendalina Graffigna , Yung Hung , Milena Lambri , António Marques , Federica Perrella , Mariarosaria Savarese , Wim Verbeke , Ettore Capri

"#I-Am-Engaged": Conceptualization and First Implementation of a Multi-Actor Participatory, Co-designed Social Media Campaign to Raise Italians Citizens' Engagement in Preventing the Spread of COVID-19 Virus.

Frontiers in psychology

Avec: Guendalina Graffigna , Caterina Bosio , Mariarosaria Savarese , Marina Barello , Serena Barello

Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.

Human mutation

Avec: Samantha J Bryen , Lisa J Ewans , Jason Pinner , Suzanna C MacLennan , Sandra Donkervoort , Diana Castro , Ana Töpf , Gina O'Grady , Beryl Cummings , Katherine R Chao , Ben Weisburd , Laurent Francioli , Fathimath Faiz , Adam M Bournazos , Ying Hu , Carla Grosmann , Denise M Malicki , Helen Doyle , Nanna Witting , John Vissing , Kristl G Claeys , Kathryn Urankar , Ana Beleza-Meireles , Julia Baptista , Sian Ellard , Marco Savarese , Mridul Johari , Anna Vihola , Bjarne Udd , Anirban Majumdar , Volker Straub , Carsten G Bönnemann , Daniel G MacArthur , Mark R Davis , Sandra T Cooper

Convexal subarachnoid hemorrhage and acute ischemic stroke: a border zone matter?

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Avec: Alessandro Introna , Domenico Maria Mezzapesa , Marco Petruzzellis , Mariantonietta Savarese , Luigi Chiumarulo , Domenico Sergio Zimatore , Franca Dicuonzo , Isabella Laura Simone

Genotype-phenotype correlations in recessive titinopathies.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Marco Savarese , Anna Vihola , Emily C Oates , Rita Barresi , Chiara Fiorillo , Giorgio Tasca , Manu Jokela , Anna Sarkozy , Sushan Luo , Jordi Díaz-Manera , Christoffer Ehrstedt , Ricardo Rojas-García , Amets Sáenz , Nuria Muelas , Fortunato Lonardo , Heidi Fodstad , Talha Qureshi , Mridul Johari , Salla Välipakka , Helena Luque , Philippe Petiot , Adolfo López de Munain , Marika Pane , Eugenio Mercuri , Annalaura Torella , Vincenzo Nigro , Guja Astrea , Filippo Maria Santorelli , Claudio Bruno , Thierry Kuntzer , Isabel Illa , Juan J Vílchez , Cedric Julien , Ana Ferreiro , Alessandro Malandrini , Chong-Bo Zhao , Olivera Casar-Borota , Mark Davis , Francesco Muntoni , Peter Hackman , Bjarne Udd

The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene.

PloS one

Avec: Annalaura Torella , Mariateresa Zanobio , Roberta Zeuli , Francesca Del Vecchio Blanco , Marco Savarese , Teresa Giugliano , Arcomaria Garofalo , Giulio Piluso , Luisa Politano , Vincenzo Nigro

Identification and Characterization of Splicing Defects by Single-Molecule Real-Time Sequencing Technology (PacBio).

Journal of neuromuscular diseases

Avec: Marco Savarese , Talha Qureshi , Annalaura Torella , Pia Laine , Teresa Giugliano , Per Harald Jonson , Mridul Johari , Lars Paulin , Giulio Piluso , Petri Auvinen , Vincenzo Nigro , Bjarne Udd , Peter Hackman

An electron density based analysis to establish the electronic adiabaticity of proton coupled electron transfer reactions.

Journal of computational chemistry

Avec: Umberto Raucci , Maria Gabriella Chiariello , Federico Coppola , Fulvio Perrella , Marika Savarese , Ilaria Ciofini , Nadia Rega

Réseau de co-auteurs

Bjarne Udd 11 collaborations

Mridul Johari 10 collaborations

Peter Hackman 8 collaborations

Per Harald Jonson 6 collaborations

Anna Vihola 5 collaborations

Mariarosaria Savarese 5 collaborations

Annalaura Torella 5 collaborations

Vincenzo Nigro 5 collaborations

Guendalina Graffigna 4 collaborations

Giorgio Tasca 4 collaborations

Teresa Giugliano 3 collaborations

Jaakko Sarparanta 3 collaborations

Mariantonietta Savarese 3 collaborations

Greta Castellini 3 collaborations

Serena Barello 3 collaborations

Sandra T Cooper 3 collaborations

Volker Straub 3 collaborations

Salla Välipakka 2 collaborations

Johanna Palmio 2 collaborations

Montse Olive 2 collaborations

Marika Savarese 2 collaborations

Nadia Rega 2 collaborations

Ilaria Ciofini 2 collaborations

Helena Luque 2 collaborations

Johanna Ranta-Aho 2 collaborations

Shruthi Mohan 2 collaborations

Shannon McNulty 2 collaborations

Courtney Thaxton 2 collaborations

Marwa Elnagheeb 2 collaborations

Emma Owens 2 collaborations

May Flowers 2 collaborations

Teagan Nunnery 2 collaborations

Autumn Self 2 collaborations

Brooke Palus 2 collaborations

Svetlana Gorokhova 2 collaborations

April Kennedy 2 collaborations

Zhiyv Niu 2 collaborations

Alassane Baneye Maiga 2 collaborations

Kelly Macalalad 2 collaborations

Amanda R Clause 2 collaborations

Jacques S Beckmann 2 collaborations

Lucas Bronicki 2 collaborations

Vijay S Ganesh 2 collaborations

Peter B Kang 2 collaborations

Akanchha Kesari 2 collaborations

Monkol Lek 2 collaborations

Jennifer Levy 2 collaborations

Laura Rufibach 2 collaborations

Melissa J Spencer 2 collaborations

Conrad C Weihl 2 collaborations

Talha Qureshi 2 collaborations

Giulio Piluso 2 collaborations

Lydia Sagath 1 collaboration

Meharji Arumilli 1 collaboration

Juan José Poza 1 collaboration

Jan Weinberg 1 collaboration

Ana Maria Cobo 1 collaboration

Federico García-Bragado 1 collaboration

Jon Andoni Urtizberea 1 collaboration

Maria P Mogavero 1 collaboration

Domenico M Mezzapesa 1 collaboration

Lourdes M DelRosso 1 collaboration

Giuseppe Lanza 1 collaboration

Raffaele Ferri 1 collaboration

Chiara Taffurelli 1 collaboration

Vittoria Cervantes Camacho 1 collaboration

Maria Bertuol 1 collaboration

Giovanna Artioli 1 collaboration

Manu E Jokela 1 collaboration

Sanna Pauliina Huovinen 1 collaboration

Simonetta Gerevini 1 collaboration

Marina Scarlato 1 collaboration

Maria Elena Onore 1 collaboration

Mathias Gautel 1 collaboration

Stefano Carlo Previtali 1 collaboration

Éric Brémond 1 collaboration

Carlo Adamo 1 collaboration

Lorenzo Palamenghi 1 collaboration

Edoardo Lozza 1 collaboration

Andrea Bonanomi 1 collaboration

Simone Cavallotti 1 collaboration

Hans-Christian Stein 1 collaboration

Michele Terzaghi 1 collaboration

Armando D'Agostino 1 collaboration

Jens Reimann 1 collaboration

Sini Penttilä 1 collaboration

Cornelia Kornblum 1 collaboration

Kevin J Felice 1 collaboration

Mario Sabatelli 1 collaboration

Cédric Yvorel 1 collaboration

Ines Harzallah 1 collaboration

Renaud Touraine 1 collaboration

Lynn Pais 1 collaboration

Christina A Austin-Tse 1 collaboration

Vijay Ganesh 1 collaboration

Melanie C O'Leary 1 collaboration

Heidi L Rehm 1 collaboration

Michael K Hehir 1 collaboration

Sub Subramony 1 collaboration

Qian Wu 1 collaboration

Huahua Zhong 1 collaboration

Veronica Sian 1 collaboration

Shintaro Katayama 1 collaboration

Ali Oghabian 1 collaboration

Marie Vandroux 1 collaboration

Giorgia Roticiani 1 collaboration

Cristina Dominguez 1 collaboration

Johann Böhm 1 collaboration

Janina Turon 1 collaboration

Jocelyn Laporte 1 collaboration

Aurélien Perrin 1 collaboration

Corinne Métay 1 collaboration

Rabah Ben Yaou 1 collaboration

German Demidov 1 collaboration

Isabelle Nelson 1 collaboration

Guilhem Solé 1 collaboration

Yann Péréon 1 collaboration

Enrico Silvio Bertini 1 collaboration

Fabiana Fattori 1 collaboration

Adele D'Amico 1 collaboration

Federica Ricci 1 collaboration

Mira Ginsberg 1 collaboration

Andreea Seferian 1 collaboration

Odile Boespflug-Tanguy 1 collaboration

Laurent Servais 1 collaboration

Françoise Chapon 1 collaboration

Emmeline Lagrange 1 collaboration

Karen Gaudon 1 collaboration

Adrien Bloch 1 collaboration

Robin Ghanem 1 collaboration

Lucie Guyant-Maréchal 1 collaboration

Charles Van Goethem 1 collaboration

Michel Fardeau 1 collaboration

Raul Juntas Morales 1 collaboration

Casie A Genetti 1 collaboration

Minttu Marttila 1 collaboration

Michel Koenig 1 collaboration

Alan H Beggs 1 collaboration

Gisèle Bonne 1 collaboration

Mireille Cossée 1 collaboration

Gabriele Sacchettini 1 collaboration

Yung Hung 1 collaboration

Milena Lambri 1 collaboration

António Marques 1 collaboration

Federica Perrella 1 collaboration

Wim Verbeke 1 collaboration

Ettore Capri 1 collaboration

Caterina Bosio 1 collaboration

Marina Barello 1 collaboration

Samantha J Bryen 1 collaboration

Lisa J Ewans 1 collaboration

Jason Pinner 1 collaboration

Suzanna C MacLennan 1 collaboration

Sandra Donkervoort 1 collaboration

Diana Castro 1 collaboration

Ana Töpf 1 collaboration

Gina O'Grady 1 collaboration

Beryl Cummings 1 collaboration

Katherine R Chao 1 collaboration

Ben Weisburd 1 collaboration

Laurent Francioli 1 collaboration

Fathimath Faiz 1 collaboration

Adam M Bournazos 1 collaboration

Ying Hu 1 collaboration

Carla Grosmann 1 collaboration

Denise M Malicki 1 collaboration

Helen Doyle 1 collaboration

Nanna Witting 1 collaboration

John Vissing 1 collaboration

Kristl G Claeys 1 collaboration

Kathryn Urankar 1 collaboration

Ana Beleza-Meireles 1 collaboration

Julia Baptista 1 collaboration

Sian Ellard 1 collaboration

Anirban Majumdar 1 collaboration

Carsten G Bönnemann 1 collaboration

Daniel G MacArthur 1 collaboration

Mark R Davis 1 collaboration

Alessandro Introna 1 collaboration

Domenico Maria Mezzapesa 1 collaboration

Marco Petruzzellis 1 collaboration

Luigi Chiumarulo 1 collaboration

Domenico Sergio Zimatore 1 collaboration

Franca Dicuonzo 1 collaboration

Isabella Laura Simone 1 collaboration

Emily C Oates 1 collaboration

Rita Barresi 1 collaboration

Chiara Fiorillo 1 collaboration

Manu Jokela 1 collaboration

Anna Sarkozy 1 collaboration

Sushan Luo 1 collaboration

Jordi Díaz-Manera 1 collaboration

Christoffer Ehrstedt 1 collaboration

Ricardo Rojas-García 1 collaboration

Amets Sáenz 1 collaboration

Nuria Muelas 1 collaboration

Fortunato Lonardo 1 collaboration

Heidi Fodstad 1 collaboration

Philippe Petiot 1 collaboration

Adolfo López de Munain 1 collaboration

Marika Pane 1 collaboration

Eugenio Mercuri 1 collaboration

Guja Astrea 1 collaboration

Filippo Maria Santorelli 1 collaboration

Claudio Bruno 1 collaboration

Thierry Kuntzer 1 collaboration

Isabel Illa 1 collaboration

Juan J Vílchez 1 collaboration

Cedric Julien 1 collaboration

Ana Ferreiro 1 collaboration

Alessandro Malandrini 1 collaboration

Chong-Bo Zhao 1 collaboration

Olivera Casar-Borota 1 collaboration

Mark Davis 1 collaboration

Francesco Muntoni 1 collaboration

Mariateresa Zanobio 1 collaboration

Roberta Zeuli 1 collaboration

Francesca Del Vecchio Blanco 1 collaboration

Arcomaria Garofalo 1 collaboration

Luisa Politano 1 collaboration

Pia Laine 1 collaboration

Lars Paulin 1 collaboration

Petri Auvinen 1 collaboration

Umberto Raucci 1 collaboration

Maria Gabriella Chiariello 1 collaboration

Federico Coppola 1 collaboration

Fulvio Perrella 1 collaboration