Viola Alesi

Affiliations

Medical Genetics Department, Bambino Gesù Children's Hospital, 00146 Rome, Italy.

Publications (26)

Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.

Brain : a journal of neurology

Avec: Monica Zilmer , Andrew C Edmondson , Sumeet A Khetarpal , Viola Alesi , Maha S Zaki , Kevin Rostasy , Camilla G Madsen , Francesca R Lepri , Lorenzo Sinibaldi , Raffaella Cusmai , Antonio Novelli , Mahmoud Y Issa , Christina D Fenger , Rami Abou Jamra , Heiko Reutter , Silvana Briuglia , Emanuele Agolini , Lars Hansen , Ulla E Petäjä-Repo , John Hintze , Kimiyo M Raymond , Kristen Liedtke , Valentina Stanley , Damir Musaev , Joseph G Gleeson , Cecilia Vitali , W Timothy O'Brien , Elena Gardella , Guido Rubboli , Daniel J Rader , Katrine T Schjoldager , Rikke S Møller

X-linked ichthyosis: Clinical and molecular findings in 35 Italian patients.

Experimental dermatology

Avec: Andrea Diociaiuti , Adriano Angioni , Elisa Pisaneschi , Viola Alesi , Giovanna Zambruno , Antonio Novelli , May El Hachem

A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D.

International journal of molecular sciences

Avec: Viola Alesi , Francesca Sessini , Silvia Genovese , Giusy Calvieri , Ester Sallicandro , Laura Ciocca , Maura Mingoia , Antonio Novelli , Paolo Moi

7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling.

Brain sciences

Avec: Maria Lisa Dentici , Paola Bergonzini , Francesco Scibelli , Cristina Caciolo , Paola De Rose , Francesca Cumbo , Viola Alesi , Rossella Capolino , Ginevra Zanni , Lorenzo Sinibaldi , Antonio Novelli , Marco Tartaglia , Maria Cristina Digilio , Bruno Dallapiccola , Stefano Vicari , Paolo Alfieri

Homozygous

International journal of molecular sciences

Avec: Viola Alesi , Maria Lisa Dentici , Silvia Genovese , Sara Loddo , Emanuele Bellacchio , Valeria Orlando , Silvia Di Tommaso , Giorgia Catino , Chiara Calacci , Giusy Calvieri , Daniele Pompili , Graziamaria Ubertini , Bruno Dallapiccola , Rossella Capolino , Antonio Novelli

A Case of CDKL5 Deficiency Due to an X Chromosome Pericentric Inversion: Delineation of Structural Rearrangements as an Overlooked Recurrent Pathological Mechanism.

International journal of molecular sciences

Avec: Antonietta Lombardo , Lorenzo Sinibaldi , Silvia Genovese , Giorgia Catino , Valerio Mei , Daniele Pompili , Ester Sallicandro , Roberto Falasca , Maria Teresa Liambo , Maria Vittoria Faggiano , Maria Cristina Roberti , Maddalena Di Donato , Anna Vitelli , Serena Russo , Rosalinda Giannini , Alessia Micalizzi , Nicola Pietrafusa , Maria Cristina Digilio , Antonio Novelli , Lucia Fusco , Viola Alesi

LTBP2-related "Marfan-like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant.

American journal of medical genetics. Part A

Avec: Silvia Morlino , Viola Alesi , Federica Calì , Francesca Romana Lepri , Aurelio Secinaro , Paola Grammatico , Antonio Novelli , Fabrizio Drago , Marco Castori , Anwar Baban

Biallelic variants in

Journal of medical genetics

Avec: Maria Lisa Dentici , Viola Alesi , Mathieu Quinodoz , Barbara Robens , Andrea Guerin , Sébastien Lebon , Annapurna Poduri , Lorena Travaglini , Federica Graziola , Alexandra Afenjar , Boris Keren , Valerio Licursi , Alessandro Capuano , Bruno Dallapiccola , Andrea Superti-Furga , Antonio Novelli

Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.

Journal of medical genetics

Avec: Lucia Laugwitz , Annette Seibt , Diran Herebian , Susana Peralta , Imke Kienzle , Rebecca Buchert , Ruth Falb , Darja Gauck , Amelie Müller , Mona Grimmel , Stefanie Beck-Woedel , Jan Kern , Karim Daliri , Pegah Katibeh , Katharina Danhauser , Steffen Leiz , Viola Alesi , Fabian Baertling , Gessica Vasco , Robert Steinfeld , Matias Wagner , Ahmet Okay Caglayan , Hakan Gumus , Margit Burmeister , Ertan Mayatepek , Diego Martinelli , Parag Mohan Tamhankar , Vasundhara Tamhankar , Pascal Joset , Katharina Steindl , Anita Rauch , Penelope E Bonnen , Tawfiq Froukh , Samuel Groeschel , Ingeborg Krägeloh-Mann , Tobias B Haack , Felix Distelmaier

Neurological and Neuroimaging Features of

Brain sciences

Avec: Francesco Nicita , Letizia Sabatini , Viola Alesi , Giulia Lucignani , Ester Sallicandro , Antonella Sferra , Enrico Bertini , Ginevra Zanni , Giuseppe Palumbo

Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1.

European journal of human genetics : EJHG

Avec: Viola Alesi , Francesca Romana Lepri , Maria Lisa Dentici , Silvia Genovese , Ester Sallicandro , Kristel Bejo , Bruno Dallapiccola , Rossella Capolino , Antonio Novelli , Maria Cristina Digilio

Different Mechanisms Cause Hypomethylation of Both

Genes

Avec: Francesco Passaretti , Laura Pignata , Giuseppina Vitiello , Viola Alesi , Gemma D'Elia , Francesco Cecere , Fabio Acquaviva , Daniele De Brasi , Antonio Novelli , Andrea Riccio , Achille Iolascon , Flavia Cerrato

Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome.

Diagnostics (Basel, Switzerland)

Avec: Giulio Calcagni , Federica Ferrigno , Alessio Franceschini , Maria Lisa Dentici , Rossella Capolino , Lorenzo Sinibaldi , Chiara Minotti , Alessia Micalizzi , Viola Alesi , Antonio Novelli , Anwar Baban , Giovanni Parlapiano , Domenico Coviello , Paolo Versacci , Carolina Putotto , Marcello Chinali , Fabrizio Drago , Andrea Bartuli , Bruno Marino , Maria Cristina Digilio

Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange-like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndrome.

Annals of human genetics

Avec: Viola Alesi , Maria Lisa Dentici , Sara Loddo , Silvia Genovese , Valeria Orlando , Chiara Calacci , Daniele Pompili , Bruno Dallapiccola , Maria Cristina Digilio , Antonio Novelli

KBG syndrome: Common and uncommon clinical features based on 31 new patients.

American journal of medical genetics. Part A

Avec: Maria Gnazzo , Francesca R Lepri , Maria Lisa Dentici , Rossella Capolino , Elisa Pisaneschi , Emanuele Agolini , Martina Rinelli , Viola Alesi , Paolo Versacci , Silvia Genovese , Claudia Cesario , Lorenzo Sinibaldi , Anwar Baban , Andrea Bartuli , Bruno Marino , Marco Cappa , Bruno Dallapiccola , Antonio Novelli , Maria Cristina Digilio

8p23.1 deletion: Look out for left ventricular hypertrabeculation and not only congenital heart diseases. Single-center experience and literature revision.

American journal of medical genetics. Part A

Avec: Marianna Cicenia , Viola Alesi , Valeria Orlando , Monia Magliozzi , Silvia Di Tommaso , Francesca G Iodice , Emanuela Pompei , Alessandra Toscano , Maria C Digilio , Fabrizio Drago , Antonio Novelli , Anwar Baban

Clinical Application of Easychip 8x15K Platform in 4106 Pregnancies Without Ultrasound Anomalies.

Reproductive sciences (Thousand Oaks, Calif.)

Avec: Valeria Orlando , Viola Alesi , Gianluca Di Giacomo , Michela Canestrelli , Chiara Calacci , Anna Maria Nardone , Giusy Calvieri , Maria Teresa Liambo , Ester Sallicandro , Silvia Di Tommaso , Maria Grazia Di Gregorio , Francesco Corrado , Giuseppe Barrano , Marcello Niceta , Bruno Dallapiccola , Antonio Novelli

Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene.

Clinical genetics

Avec: Emanuele Agolini , Elena Botta , Mariachiara Lodi , Maria Cristina Digilio , Martina Rinelli , Emanuele Bellacchio , Viola Alesi , Tiziana Nardo , Giovanna Zambruno , Donata Orioli , Iside Alessi , Luigi Boccuto , Sabrina Rossi , Andrea Carai , Giovanna Stefania Colafati , Antonella Cacchione , Bruno Dallapiccola , Antonio Novelli , Angela Mastronuzzi

Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X, DDX3X, and CASK genes in two patients with syndromic intellectual disability.

American journal of medical genetics. Part A

Avec: Giorgia Catino , Silvia Genovese , Silvia Di Tommaso , Valeria Orlando , Maria Teresa Petti , Margherita Lucia De Bernardi , Bruno Dallapiccola , Antonio Novelli , Lucia Ulgheri , Carmelo Piscopo , Viola Alesi

Frontiers in psychiatry

Avec: Federica Alice Maria Montanaro , Alessandra Mandarino , Viola Alesi , Charles Schwartz , Daniela Judith Claps Sepulveda , Cindy Skinner , Michael Friez , Gabriele Piccolo , Antonio Novelli , Ginevra Zanni , Maria Lisa Dentici , Stefano Vicari , Paolo Alfieri

Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profile.

American journal of medical genetics. Part A

Avec: Viola Alesi , Sara Loddo , Valeria Orlando , Silvia Genovese , Silvia Di Tommaso , Maria Teresa Liambo , Daniele Pompili , Daniele Ferretti , Chiara Calacci , Giorgia Catino , Roberto Falasca , Maria Lisa Dentici , Antonio Novelli , Maria Cristina Digilio , Bruno Dallapiccola

A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign.

Molecular cytogenetics

Avec: Fabrizia Restaldi , Viola Alesi , Angela Aquilani , Silvia Genovese , Serena Russo , Valentina Coletti , Daniele Pompili , Roberto Falasca , Bruno Dallapiccola , Rossella Capolino , Matteo Luciani , Antonio Novelli

Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome.

International journal of molecular sciences

Avec: Kyle W Davis , Moises Serrano , Sara Loddo , Catherine Robinson , Viola Alesi , Bruno Dallapiccola , Antonio Novelli , Merlin G Butler

Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation.

Molecular genetics & genomic medicine

Avec: Emanuela Ponzi , Viola Alesi , Francesca R Lepri , Silvia Genovese , Sara Loddo , Mafalda Mucciolo , Antonio Novelli , Carlo Dionisi-Vici , Arianna Maiorana

1p36 Deletion Syndrome and the Aorta: A Report of Three New Patients and a Literature Review.

Journal of cardiovascular development and disease

Avec: Valentina Lodato , Valeria Orlando , Viola Alesi , Silvia Di Tommaso , Mario Bengala , Giovanni Parlapiano , Elisa Agnolucci , Marianna Cicenia , Federica Calì , Maria Cristina Digilio , Fabrizio Drago , Antonio Novelli , Anwar Baban

Congenital heart defects in molecularly confirmed KBG syndrome patients.

American journal of medical genetics. Part A

Avec: Maria Cristina Digilio , Giulio Calcagni , Maria Gnazzo , Paolo Versacci , Maria Lisa Dentici , Rossella Capolino , Lorenzo Sinibaldi , Anwar Baban , Carolina Putotto , Paolo Alfieri , Marta Unolt , Francesca R Lepri , Viola Alesi , Silvia Genovese , Antonio Novelli , Bruno Marino , Bruno Dallapiccola

Réseau de co-auteurs

Antonio Novelli 24 collaborations

Bruno Dallapiccola 13 collaborations

Silvia Genovese 11 collaborations

Maria Lisa Dentici 10 collaborations

Maria Cristina Digilio 10 collaborations

Rossella Capolino 7 collaborations

Valeria Orlando 7 collaborations

Lorenzo Sinibaldi 6 collaborations

Silvia Di Tommaso 6 collaborations

Anwar Baban 6 collaborations

Ester Sallicandro 5 collaborations

Sara Loddo 5 collaborations

Daniele Pompili 5 collaborations

Francesca R Lepri 4 collaborations

Giorgia Catino 4 collaborations

Chiara Calacci 4 collaborations

Fabrizio Drago 4 collaborations

Emanuele Agolini 3 collaborations

Giusy Calvieri 3 collaborations

Ginevra Zanni 3 collaborations

Paolo Alfieri 3 collaborations

Roberto Falasca 3 collaborations

Maria Teresa Liambo 3 collaborations

Paolo Versacci 3 collaborations

Bruno Marino 3 collaborations

Elisa Pisaneschi 2 collaborations

Giovanna Zambruno 2 collaborations

Stefano Vicari 2 collaborations

Emanuele Bellacchio 2 collaborations

Serena Russo 2 collaborations

Alessia Micalizzi 2 collaborations

Federica Calì 2 collaborations

Francesca Romana Lepri 2 collaborations

Giulio Calcagni 2 collaborations

Giovanni Parlapiano 2 collaborations

Carolina Putotto 2 collaborations

Andrea Bartuli 2 collaborations

Maria Gnazzo 2 collaborations

Martina Rinelli 2 collaborations

Marianna Cicenia 2 collaborations

Monica Zilmer 1 collaboration

Andrew C Edmondson 1 collaboration

Sumeet A Khetarpal 1 collaboration

Maha S Zaki 1 collaboration

Kevin Rostasy 1 collaboration

Camilla G Madsen 1 collaboration

Raffaella Cusmai 1 collaboration

Mahmoud Y Issa 1 collaboration

Christina D Fenger 1 collaboration

Rami Abou Jamra 1 collaboration

Heiko Reutter 1 collaboration

Silvana Briuglia 1 collaboration

Lars Hansen 1 collaboration

Ulla E Petäjä-Repo 1 collaboration

John Hintze 1 collaboration

Kimiyo M Raymond 1 collaboration

Kristen Liedtke 1 collaboration

Valentina Stanley 1 collaboration

Damir Musaev 1 collaboration

Joseph G Gleeson 1 collaboration

Cecilia Vitali 1 collaboration

W Timothy O'Brien 1 collaboration

Elena Gardella 1 collaboration

Guido Rubboli 1 collaboration

Daniel J Rader 1 collaboration

Katrine T Schjoldager 1 collaboration

Rikke S Møller 1 collaboration

Andrea Diociaiuti 1 collaboration

Adriano Angioni 1 collaboration

May El Hachem 1 collaboration

Francesca Sessini 1 collaboration

Laura Ciocca 1 collaboration

Maura Mingoia 1 collaboration

Paolo Moi 1 collaboration

Paola Bergonzini 1 collaboration

Francesco Scibelli 1 collaboration

Cristina Caciolo 1 collaboration

Paola De Rose 1 collaboration

Francesca Cumbo 1 collaboration

Marco Tartaglia 1 collaboration

Graziamaria Ubertini 1 collaboration

Antonietta Lombardo 1 collaboration

Valerio Mei 1 collaboration

Maria Vittoria Faggiano 1 collaboration

Maria Cristina Roberti 1 collaboration

Maddalena Di Donato 1 collaboration

Anna Vitelli 1 collaboration

Rosalinda Giannini 1 collaboration

Nicola Pietrafusa 1 collaboration

Lucia Fusco 1 collaboration

Silvia Morlino 1 collaboration

Aurelio Secinaro 1 collaboration

Paola Grammatico 1 collaboration

Marco Castori 1 collaboration

Mathieu Quinodoz 1 collaboration

Barbara Robens 1 collaboration

Andrea Guerin 1 collaboration

Sébastien Lebon 1 collaboration

Annapurna Poduri 1 collaboration

Lorena Travaglini 1 collaboration

Federica Graziola 1 collaboration

Alexandra Afenjar 1 collaboration

Boris Keren 1 collaboration

Valerio Licursi 1 collaboration

Alessandro Capuano 1 collaboration

Andrea Superti-Furga 1 collaboration

Lucia Laugwitz 1 collaboration

Annette Seibt 1 collaboration

Diran Herebian 1 collaboration

Susana Peralta 1 collaboration

Imke Kienzle 1 collaboration

Rebecca Buchert 1 collaboration

Ruth Falb 1 collaboration

Darja Gauck 1 collaboration

Amelie Müller 1 collaboration

Mona Grimmel 1 collaboration

Stefanie Beck-Woedel 1 collaboration

Jan Kern 1 collaboration

Karim Daliri 1 collaboration

Pegah Katibeh 1 collaboration

Katharina Danhauser 1 collaboration

Steffen Leiz 1 collaboration

Fabian Baertling 1 collaboration

Gessica Vasco 1 collaboration

Robert Steinfeld 1 collaboration

Matias Wagner 1 collaboration

Ahmet Okay Caglayan 1 collaboration

Hakan Gumus 1 collaboration

Margit Burmeister 1 collaboration

Ertan Mayatepek 1 collaboration

Diego Martinelli 1 collaboration

Parag Mohan Tamhankar 1 collaboration

Vasundhara Tamhankar 1 collaboration

Pascal Joset 1 collaboration

Katharina Steindl 1 collaboration

Anita Rauch 1 collaboration

Penelope E Bonnen 1 collaboration

Tawfiq Froukh 1 collaboration

Samuel Groeschel 1 collaboration

Ingeborg Krägeloh-Mann 1 collaboration

Tobias B Haack 1 collaboration

Felix Distelmaier 1 collaboration

Francesco Nicita 1 collaboration

Letizia Sabatini 1 collaboration

Giulia Lucignani 1 collaboration

Antonella Sferra 1 collaboration

Enrico Bertini 1 collaboration

Giuseppe Palumbo 1 collaboration

Kristel Bejo 1 collaboration

Francesco Passaretti 1 collaboration

Laura Pignata 1 collaboration

Giuseppina Vitiello 1 collaboration

Gemma D'Elia 1 collaboration

Francesco Cecere 1 collaboration

Fabio Acquaviva 1 collaboration

Daniele De Brasi 1 collaboration

Andrea Riccio 1 collaboration

Achille Iolascon 1 collaboration

Flavia Cerrato 1 collaboration

Federica Ferrigno 1 collaboration

Alessio Franceschini 1 collaboration

Chiara Minotti 1 collaboration

Domenico Coviello 1 collaboration

Marcello Chinali 1 collaboration

Claudia Cesario 1 collaboration

Marco Cappa 1 collaboration

Monia Magliozzi 1 collaboration

Francesca G Iodice 1 collaboration

Emanuela Pompei 1 collaboration

Alessandra Toscano 1 collaboration

Maria C Digilio 1 collaboration

Gianluca Di Giacomo 1 collaboration

Michela Canestrelli 1 collaboration

Anna Maria Nardone 1 collaboration

Maria Grazia Di Gregorio 1 collaboration

Francesco Corrado 1 collaboration

Giuseppe Barrano 1 collaboration

Marcello Niceta 1 collaboration

Elena Botta 1 collaboration

Mariachiara Lodi 1 collaboration

Tiziana Nardo 1 collaboration

Donata Orioli 1 collaboration

Iside Alessi 1 collaboration

Luigi Boccuto 1 collaboration

Sabrina Rossi 1 collaboration

Andrea Carai 1 collaboration

Giovanna Stefania Colafati 1 collaboration

Antonella Cacchione 1 collaboration

Angela Mastronuzzi 1 collaboration

Maria Teresa Petti 1 collaboration

Margherita Lucia De Bernardi 1 collaboration

Lucia Ulgheri 1 collaboration

Carmelo Piscopo 1 collaboration

Federica Alice Maria Montanaro 1 collaboration

Alessandra Mandarino 1 collaboration

Charles Schwartz 1 collaboration

Daniela Judith Claps Sepulveda 1 collaboration

Cindy Skinner 1 collaboration

Michael Friez 1 collaboration

Gabriele Piccolo 1 collaboration

Daniele Ferretti 1 collaboration

Fabrizia Restaldi 1 collaboration

Angela Aquilani 1 collaboration

Valentina Coletti 1 collaboration

Matteo Luciani 1 collaboration

Kyle W Davis 1 collaboration

Moises Serrano 1 collaboration

Catherine Robinson 1 collaboration

Merlin G Butler 1 collaboration

Emanuela Ponzi 1 collaboration

Mafalda Mucciolo 1 collaboration

Carlo Dionisi-Vici 1 collaboration

Arianna Maiorana 1 collaboration

Valentina Lodato 1 collaboration

Mario Bengala 1 collaboration

Elisa Agnolucci 1 collaboration

Marta Unolt 1 collaboration