E Rubinato

Affiliations

Centre de Référence Surdités Génétiques, UF Développement et Morphogénèse, Service de Médecine génomique des Maladies rares, Hôpital Universitaire Necker-Enfants Malades, AP-HP.CUP, Paris, France; Medical Genetics, Institute for Maternal and Child Health -IRCCS "Burlo Garofolo", Trieste, Italy.

Publications (12)

PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.

European journal of medical genetics

Avec: Oriane Mercati , Marie-Thérèse Abi Warde , Geneviève Lina-Granade , Marlène Rio , Solveig Heide , Pascale de Lonlay , Irène Ceballos-Picot , Matthieu P Robert , Vincent Couloigner , Jacques Beltrand , Nathalie Boddaert , Diana Rodriguez , Elisa Rubinato , Jean-Michel Lapierre , Christophe Merlette , Sylvia Sanquer , Agnès Rötig , Holger Prokisch , Stanislas Lyonnet , Natalie Loundon , Josseline Kaplan , Jean-Paul Bonnefont , Arnold Munnich , Claude Besmond , Laurence Jonard , Sandrine Marlin

Challenging Occam's Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures.

Genes

Avec: Beatrice Spedicati , Anna Morgan , Giulia Pianigiani , Luciana Musante , Elisa Rubinato , Aurora Santin , Giuseppe Giovanni Nardone , Flavio Faletra , Giorgia Girotto

Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment.

Audiology research

Avec: Laurence Jonard , Davide Brotto , Miguel A Moreno-Pelayo , Ignacio Del Castillo , Hannie Kremer , Ronald Pennings , Helena Caria , Graça Fialho , An Boudewyns , Guy Van Camp , Monika Ołdak , Dominika Oziębło , Naïma Deggouj , Romolo Daniele De Siati , Paolo Gasparini , Giorgia Girotto , Margriet Verstreken , Silvia Dossena , Sebastian Roesch , Saba Battelino , Katarina Trebušak Podkrajšek , Athanasia Warnecke , Thomas Lenarz , Anke Lesinski-Schiedat , Michel Mondain , Anne-Françoise Roux , Françoise Denoyelle , Natalie Loundon , Margaux Serey Gaut , Patrizia Trevisi , Elisa Rubinato , Alessandro Martini , Sandrine Marlin

MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review.

European journal of medical genetics

Avec: Elisa Rubinato , Sophie Rondeau , Fabienne Giuliano , Manoelle Kossorotoff , Marine Parodi , Souad Gherbi , Julie Steffan , Laurence Jonard , Sandrine Marlin

TBL1Y: a new gene involved in syndromic hearing loss.

European journal of human genetics : EJHG

Avec: Mariateresa Di Stazio , Chiara Collesi , Diego Vozzi , Wei Liu , Mike Myers , Anna Morgan , Pio Adamo D Adamo , Giorgia Girotto , Elisa Rubinato , Mauro Giacca , Paolo Gasparini

Pendred Syndrome, or Not Pendred Syndrome? That Is the Question.

Genes

Avec: Paola Tesolin , Sofia Fiorino , Stefania Lenarduzzi , Elisa Rubinato , Elisabetta Cattaruzzi , Lydie Ammar , Veronica Castro , Eva Orzan , Claudio Granata , Daniele Dell'Orco , Anna Morgan , Giorgia Girotto

New insights on Noonan syndrome's clinical phenotype: a single center retrospective study.

BMC pediatrics

Avec: Francesco Baldo , Alice Fachin , Beatrice Da Re , Elisa Rubinato , Marco Bobbo , Egidio Barbi

Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss.

European journal of human genetics : EJHG

Avec: Anna Morgan , Dragana Vuckovic , Navaneethakrishnan Krishnamoorthy , Elisa Rubinato , Umberto Ambrosetti , Pierangela Castorina , Annamaria Franzè , Diego Vozzi , Martina La Bianca , Stefania Cappellani , Mariateresa Di Stazio , Paolo Gasparini , Giorgia Girotto

Which Came First? When Usher Syndrome Type 1 Couples with Neuropsychiatric Disorders.

Audiology research

Avec: Paola Tesolin , Aurora Santin , Anna Morgan , Stefania Lenarduzzi , Elisa Rubinato , Giorgia Girotto , Beatrice Spedicati

Long QT syndrome and left ventricular non-compaction in a family with KCNH2 mutation: A case report.

Frontiers in pediatrics

Avec: Thomas Caiffa , Antimo Tessitore , Loira Leoni , Elena Reffo , Daniela Chicco , Biancamaria D'Agata Mottolese , Elisa Rubinato , Giorgia Girotto , Stefania Lenarduzzi , Egidio Barbi , Marco Bobbo , Giovanni Di Salvo

The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population.

Biomedicines

Avec: Beatrice Spedicati , Aurora Santin , Giuseppe Giovanni Nardone , Elisa Rubinato , Stefania Lenarduzzi , Claudio Graziano , Livia Garavelli , Sara Miccoli , Stefania Bigoni , Anna Morgan , Giorgia Girotto

Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter review.

International journal of pediatric otorhinolaryngology

Avec: L Rhamati , A Marcolla , A M Guerrot , Y Lerosey , A Goldenberg , M Serey-Gaut , M Rio , V Cormier Daire , G Baujat , S Lyonnet , E Rubinato , L Jonard , S Rondeau , I Rouillon , V Couloignier , M L Jacquemont , D Dupin Deguine , S Moutton , M Vincent , B Isidor , A Ziegler , J P Marie , S Marlin

Réseau de co-auteurs

Elisa Rubinato 11 collaborations

Giorgia Girotto 8 collaborations

Anna Morgan 6 collaborations

Stefania Lenarduzzi 4 collaborations

Laurence Jonard 3 collaborations

Sandrine Marlin 3 collaborations

Beatrice Spedicati 3 collaborations

Aurora Santin 3 collaborations

Paolo Gasparini 3 collaborations

Natalie Loundon 2 collaborations

Giuseppe Giovanni Nardone 2 collaborations

Mariateresa Di Stazio 2 collaborations

Diego Vozzi 2 collaborations

Paola Tesolin 2 collaborations

Marco Bobbo 2 collaborations

Egidio Barbi 2 collaborations

Oriane Mercati 1 collaboration

Marie-Thérèse Abi Warde 1 collaboration

Geneviève Lina-Granade 1 collaboration

Marlène Rio 1 collaboration

Solveig Heide 1 collaboration

Pascale de Lonlay 1 collaboration

Irène Ceballos-Picot 1 collaboration

Matthieu P Robert 1 collaboration

Vincent Couloigner 1 collaboration

Jacques Beltrand 1 collaboration

Nathalie Boddaert 1 collaboration

Diana Rodriguez 1 collaboration

Jean-Michel Lapierre 1 collaboration

Christophe Merlette 1 collaboration

Sylvia Sanquer 1 collaboration

Agnès Rötig 1 collaboration

Holger Prokisch 1 collaboration

Stanislas Lyonnet 1 collaboration

Josseline Kaplan 1 collaboration

Jean-Paul Bonnefont 1 collaboration

Arnold Munnich 1 collaboration

Claude Besmond 1 collaboration

Giulia Pianigiani 1 collaboration

Luciana Musante 1 collaboration

Flavio Faletra 1 collaboration

Davide Brotto 1 collaboration

Miguel A Moreno-Pelayo 1 collaboration

Ignacio Del Castillo 1 collaboration

Hannie Kremer 1 collaboration

Ronald Pennings 1 collaboration

Helena Caria 1 collaboration

Graça Fialho 1 collaboration

An Boudewyns 1 collaboration

Guy Van Camp 1 collaboration

Monika Ołdak 1 collaboration

Dominika Oziębło 1 collaboration

Naïma Deggouj 1 collaboration

Romolo Daniele De Siati 1 collaboration

Margriet Verstreken 1 collaboration

Silvia Dossena 1 collaboration

Sebastian Roesch 1 collaboration

Saba Battelino 1 collaboration

Katarina Trebušak Podkrajšek 1 collaboration

Athanasia Warnecke 1 collaboration

Thomas Lenarz 1 collaboration

Anke Lesinski-Schiedat 1 collaboration

Michel Mondain 1 collaboration

Anne-Françoise Roux 1 collaboration

Françoise Denoyelle 1 collaboration

Margaux Serey Gaut 1 collaboration

Patrizia Trevisi 1 collaboration

Alessandro Martini 1 collaboration

Sophie Rondeau 1 collaboration

Fabienne Giuliano 1 collaboration

Manoelle Kossorotoff 1 collaboration

Marine Parodi 1 collaboration

Souad Gherbi 1 collaboration

Julie Steffan 1 collaboration

Chiara Collesi 1 collaboration

Wei Liu 1 collaboration

Mike Myers 1 collaboration

Pio Adamo D Adamo 1 collaboration

Mauro Giacca 1 collaboration

Sofia Fiorino 1 collaboration

Elisabetta Cattaruzzi 1 collaboration

Lydie Ammar 1 collaboration

Veronica Castro 1 collaboration

Eva Orzan 1 collaboration

Claudio Granata 1 collaboration

Daniele Dell'Orco 1 collaboration

Francesco Baldo 1 collaboration

Alice Fachin 1 collaboration

Beatrice Da Re 1 collaboration

Dragana Vuckovic 1 collaboration

Navaneethakrishnan Krishnamoorthy 1 collaboration

Umberto Ambrosetti 1 collaboration

Pierangela Castorina 1 collaboration

Annamaria Franzè 1 collaboration

Martina La Bianca 1 collaboration

Stefania Cappellani 1 collaboration

Thomas Caiffa 1 collaboration

Antimo Tessitore 1 collaboration

Loira Leoni 1 collaboration

Elena Reffo 1 collaboration

Daniela Chicco 1 collaboration

Biancamaria D'Agata Mottolese 1 collaboration

Giovanni Di Salvo 1 collaboration

Claudio Graziano 1 collaboration

Livia Garavelli 1 collaboration

Sara Miccoli 1 collaboration

Stefania Bigoni 1 collaboration

L Rhamati 1 collaboration

A Marcolla 1 collaboration

A M Guerrot 1 collaboration

Y Lerosey 1 collaboration

A Goldenberg 1 collaboration

M Serey-Gaut 1 collaboration

M Rio 1 collaboration

V Cormier Daire 1 collaboration

G Baujat 1 collaboration

S Lyonnet 1 collaboration

L Jonard 1 collaboration

S Rondeau 1 collaboration

I Rouillon 1 collaboration

V Couloignier 1 collaboration

M L Jacquemont 1 collaboration

D Dupin Deguine 1 collaboration

S Moutton 1 collaboration

M Vincent 1 collaboration

B Isidor 1 collaboration

A Ziegler 1 collaboration

J P Marie 1 collaboration

S Marlin 1 collaboration