Niccolo Emanuele Mencacci

Publications (29)

A Novel

Movement disorders clinical practice

Avec: Murat Gultekin , Neha Prakash , Christos Ganos , Meral Mirza , Ruslan Bayramov , Kailash P Bhatia , Niccolò E Mencacci

MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.

Annals of neurology

Avec: Linyan Meng , Pirjo Isohanni , Yunru Shao , Brett H Graham , Scott E Hickey , Stephanie Brooks , Anu Suomalainen , Pascal Joset , Katharina Steindl , Anita Rauch , Annette Hackenberg , Frances A High , Amy Armstrong-Javors , Niccolò E Mencacci , Paulina Gonzàlez-Latapi , Walaa A Kamel , Jasem Y Al-Hashel , Bernabé I Bustos , Alejandro V Hernandez , Dimitri Krainc , Steven J Lubbe , Hilde Van Esch , Chiara De Luca , Katleen Ballon , Claudia Ravelli , Lydie Burglen , Leila Qebibo , Daniel G Calame , Tadahiro Mitani , Dana Marafi , Davut Pehlivan , Nebal W Saadi , Yavuz Sahin , Reza Maroofian , Stephanie Efthymiou , Henry Houlden , Shazia Maqbool , Fatima Rahman , Shen Gu , Jennifer E Posey , James R Lupski , Jill V Hunter , Michael F Wangler , Christopher J Carroll , Yaping Yang

Expanding the spectrum of KCNJ6-related disorders: Milder phenotype with pathological startle responses.

Clinical genetics

Avec: Vesna Marija van Midden , Lisa Kinsley , Avram Fraint , Dimitri Krainc , Niccolò E Mencacci

Variants in ATP5F1B are associated with dominantly inherited dystonia.

Brain : a journal of neurology

Avec: Alessia Nasca , Niccolò E Mencacci , Federica Invernizzi , Michael Zech , Ignacio J Keller Sarmiento , Andrea Legati , Chiara Frascarelli , Bernabe I Bustos , Luigi M Romito , Dimitri Krainc , Juliane Winkelmann , Miryam Carecchio , Nardo Nardocci , Giovanna Zorzi , Holger Prokisch , Steven J Lubbe , Barbara Garavaglia , Daniele Ghezzi

Genetic Testing in Parkinson's Disease.

Movement disorders : official journal of the Movement Disorder Society

Avec: Gian Pal , Lola Cook , Jeanine Schulze , Jennifer Verbrugge , Roy N Alcalay , Marcelo Merello , Carolyn M Sue , Soraya Bardien , Vincenzo Bonifati , Sun Ju Chung , Tatiana Foroud , Emilia Gatto , Anne Hall , Nobutaka Hattori , Tim Lynch , Karen Marder , Deborah Mascalzoni , Ivana Novaković , Avner Thaler , Deborah Raymond , Mehri Salari , Ali Shalash , Oksana Suchowersky , Niccolò E Mencacci , Tanya Simuni , Rachel Saunders-Pullman , Christine Klein

Community-based genetic study of Parkinson's disease in Estonia.

Acta neurologica Scandinavica

Avec: Mari Muldmaa , Niccolò Emanuele Mencacci , Alan Pittman , Liis Kadastik-Eerme , Katrin Sikk , Pille Taba , John Hardy , Sulev Kõks

The Emerging Role of Phosphodiesterases in Movement Disorders.

Movement disorders : official journal of the Movement Disorder Society

Avec: Roberto Erro , Niccoló E Mencacci , Kailash P Bhatia

International Genetic Testing and Counseling Practices for Parkinson's Disease.

Movement disorders : official journal of the Movement Disorder Society

Avec: Rachel Saunders-Pullman , Deborah Raymond , Roberto A Ortega , Ali Shalash , Emilia Gatto , Mehri Salari , Maggie Markgraf , Roy N Alcalay , Deborah Mascalzoni , Niccolò E Mencacci , Vincenzo Bonifati , Marcelo Merello , Sun Ju Chung , Ivana Novakovic , Soraya Bardien , Gian Pal , Anne Hall , Nobutaka Hattori , Timothy Lynch , Avner Thaler , Carolyn M Sue , Tatiana Foroud , Jennifer Verbrugge , Jeanine Schulze , Lola Cook , Karen Marder , Oksana Suchowersky , Christine Klein , Tatyana Simuni

De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and Seizures.

Movement disorders : official journal of the Movement Disorder Society

Avec: Ignacio J Keller Sarmiento , Bernabe I Bustos , Joanna Blackburn , Nicholas E F Hac , Maura Ruzhnikov , Matthea Monroe , Rebecca J Levy , Lisa Kinsley , Megan Li , Vincenzo Silani , Steven J Lubbe , Dimitri Krainc , Niccolò E Mencacci

The LRRK2 p.L1795F variant causes Parkinson's disease in the European population.

Research square

Avec: Lara Lange , Kristin Levine , Susan Fox , Connie Marras , Nazish Ahmed , Nicole Kuznetsov , Dan Vitale , Hirotaka Iwaki , Katja Lohmann , Luca Marsili , Alberto Espay , Peter Bauer , Christian Beetz , Jessica Martin , Stewart Factor , Lenora Higginbotham , Honglei Chen , Hampton Leonard , Mike Nalls , Niccolo E Mencacci , Huw Morris , Christine Klein , Cornelis Blauwendraat , Zih-Hua Fang

Emerging and converging molecular mechanisms in dystonia.

Journal of neural transmission (Vienna, Austria : 1996)

Avec: Paulina Gonzalez-Latapi , Nicolas Marotta , Niccolò E Mencacci

Genetic Dystonias: Update on Classification and New Genetic Discoveries.

Current neurology and neuroscience reports

Avec: Ignacio Juan Keller Sarmiento , Niccolò Emanuele Mencacci

Novel THAP1 missense variant with incomplete penetrance in a case of generalized young onset dystonia showing good response to deep brain stimulation.

Parkinsonism & related disorders

Avec: Ignacio J Keller Sarmiento , Avram Fraint , Lisa Kinsley , Rizwan S Akhtar , Vincenzo Silani , Steven J Lubbe , Dimitri Krainc , Niccolò E Mencacci

Novel bi-allelic FBXO7 variants in a family with early-onset typical Parkinson's disease.

Parkinsonism & related disorders

Avec: Ignacio J Keller Sarmiento , Mitra Afshari , Lisa Kinsley , Vincenzo Silani , Rizwan S Akhtar , Tanya Simuni , Steven J Lubbe , Dimitri Krainc , Niccolò E Mencacci

Naming Genes for Dystonia: DYT-z or Ditzy?

Tremor and other hyperkinetic movements (New York, N.Y.)

Avec: Niccolo E Mencacci , H A Jinnah

EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia.

Annals of neurology

Avec: Demy J S Kuipers , Wim Mandemakers , Chin-Song Lu , Simone Olgiati , Guido J Breedveld , Christina Fevga , Vera Tadic , Miryam Carecchio , Bradley Osterman , Lena Sagi-Dain , Yah-Huei Wu-Chou , Chiung C Chen , Hsiu-Chen Chang , Shey-Lin Wu , Tu-Hsueh Yeh , Yi-Hsin Weng , Antonio E Elia , Celeste Panteghini , Nicolas Marotta , Martje G Pauly , Andrea A Kühn , Jens Volkmann , Baiba Lace , Inge A Meijer , Krishna Kandaswamy , Marialuisa Quadri , Barbara Garavaglia , Katja Lohmann , Peter Bauer , Niccolò E Mencacci , Steven J Lubbe , Christine Klein , Aida M Bertoli-Avella , Vincenzo Bonifati

Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.

Movement disorders : official journal of the Movement Disorder Society

Avec: Michael Zech , Kishore R Kumar , Sophie Reining , Janine Reunert , Michel Tchan , Lisa G Riley , Alexander P Drew , Robert J Adam , Riccardo Berutti , Saskia Biskup , Nicolas Derive , Somayeh Bakhtiari , Sheng Chih Jin , Michael C Kruer , Tanya Bardakjian , Pedro Gonzalez-Alegre , Ignacio J Keller Sarmiento , Niccolo E Mencacci , Steven J Lubbe , Manju A Kurian , Fabienne Clot , Aurélie Méneret , Jean-Madeleine de Sainte Agathe , Victor S C Fung , Marie Vidailhet , Matthias Baumann , Thorsten Marquardt , Juliane Winkelmann , Sylvia Boesch

Loss-of-Function Variants in

Cells

Avec: Kimberley M Reid , Dora Steel , Sanjana Nair , Sanjay Bhate , Lorenzo Biassoni , Sniya Sudhakar , Michelle Heys , Elizabeth Burke , Erik-Jan Kamsteeg , Genomics England Research Consortium , Biju Hameed , Michael Zech , Niccolo E Mencacci , Katy Barwick , Maya Topf , Manju A Kurian

Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction.

Movement disorders : official journal of the Movement Disorder Society

Avec: Philip Harrer , Matej Škorvánek , Volker Kittke , Ivana Dzinovic , Friederike Borngräber , Mirja Thomsen , Vanessa Mandel , Tatiana Svorenova , Miriam Ostrozovicova , Kristina Kulcsarova , Riccardo Berutti , Hauke Busch , Fabian Ott , Robert Kopajtich , Holger Prokisch , Kishore R Kumar , Niccolo E Mencacci , Manju A Kurian , Alessio Di Fonzo , Sylvia Boesch , Andrea A Kühn , Ulrike Blümlein , Katja Lohmann , Bernhard Haslinger , David Weise , Robert Jech , Juliane Winkelmann , Michael Zech

Parkinson's disease-linked parkin mutation disrupts recycling of synaptic vesicles in human dopaminergic neurons.

Neuron

Avec: Pingping Song , Wesley Peng , Veronique Sauve , Rayan Fakih , Zhong Xie , Daniel Ysselstein , Talia Krainc , Yvette C Wong , Niccolò E Mencacci , Jeffrey N Savas , D James Surmeier , Kalle Gehring , Dimitri Krainc

Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.

Brain : a journal of neurology

Avec: Lola Cook , Jennifer Verbrugge , Tae-Hwi Schwantes-An , Jeanine Schulze , Tatiana Foroud , Anne Hall , Karen S Marder , Ignacio F Mata , Niccolò E Mencacci , Martha A Nance , Michael A Schwarzschild , Tanya Simuni , Susan Bressman , Anne-Marie Wills , Hubert H Fernandez , Irene Litvan , Kelly E Lyons , Holly A Shill , Carlos Singer , Thomas F Tropea , Nora Vanegas Arroyave , Janfreisy Carbonell , Rossy Cruz Vicioso , Linn Katus , Joseph F Quinn , Priscila D Hodges , Yan Meng , Samuel P Strom , Cornelis Blauwendraat , Katja Lohmann , Cynthia Casaceli , Shilpa C Rao , Kamalini Ghosh Galvelis , Anna Naito , James C Beck , Roy N Alcalay

Team Science Approaches to Unravel Monogenic Parkinson's Disease on a Global Scale.

Movement disorders : official journal of the Movement Disorder Society

Avec: Johanna Junker , Lara M Lange , Eva-Juliane Vollstedt , Karisha Roopnarain , Maria Leila M Doquenia , Azlina Ahmad Annuar , Micol Avenali , Soraya Bardien , Natascha Bahr , Melina Ellis , Caterina Galandra , Thomas Gasser , Peter Heutink , Anastasia Illarionova , Yuliia Kanana , Ignacio J Keller Sarmiento , Kishore R Kumar , Shen-Yang Lim , Harutyun Madoev , Ignacio F Mata , Niccolò E Mencacci , Mike A Nalls , Shalini Padmanabhan , Cholpon Shambetova , J C Solle , Ai-Huey Tan , Joanne Trinh , Enza Maria Valente , Andrew Singleton , Cornelis Blauwendraat , Katja Lohmann , Zih-Hua Fang , Christine Klein , Auteur inconnu

Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.

Annals of neurology

Avec: Dora Steel , Michael Zech , Chen Zhao , Katy E S Barwick , Derek Burke , Diane Demailly , Kishore R Kumar , Giovanna Zorzi , Nardo Nardocci , Rauan Kaiyrzhanov , Matias Wagner , Arcangela Iuso , Riccardo Berutti , Matej Škorvánek , Ján Necpál , Ryan Davis , Sarah Wiethoff , Kshitij Mankad , Sniya Sudhakar , Arianna Ferrini , Suvasini Sharma , Erik-Jan Kamsteeg , Marina A Tijssen , Corien Verschuuren , Martje E van Egmond , Joanna M Flowers , Meriel McEntagart , Arianna Tucci , Philippe Coubes , Bernabe I Bustos , Paulina Gonzalez-Latapi , Stephen Tisch , Paul Darveniza , Kathleen M Gorman , Kathryn J Peall , Kai Bötzel , Jan C Koch , Tomasz Kmieć , Barbara Plecko , Sylvia Boesch , Bernhard Haslinger , Robert Jech , Barbara Garavaglia , Nick Wood , Henry Houlden , Paul Gissen , Steven J Lubbe , Carolyn M Sue , Laura Cif , Niccolò E Mencacci , Glenn Anderson , Manju A Kurian , Juliane Winkelmann , Auteur inconnu

Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders.

Brain : a journal of neurology

Avec: Niccolò E Mencacci , Regina Reynolds , Sonia Garcia Ruiz , Jana Vandrovcova , Paola Forabosco , Alvaro Sánchez-Ferrer , Viola Volpato , Auteur inconnu , Auteur inconnu , Michael E Weale , Kailash P Bhatia , Caleb Webber , John Hardy , Juan A Botía , Mina Ryten

Restless Legs Syndrome in NKX2-1-related chorea: An expansion of the disease spectrum.

Brain & development

Avec: A Iodice , M Carecchio , G Zorzi , B Garavaglia , C Spagnoli , G G Salerno , D Frattini , N E Mencacci , F Invernizzi , L Veneziano , E Mantuano , M Angriman , C Fusco

Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study.

Movement disorders : official journal of the Movement Disorder Society

Avec: Miryam Carecchio , Federica Invernizzi , Paulina Gonzàlez-Latapi , Celeste Panteghini , Giovanna Zorzi , Luigi Romito , Vincenzo Leuzzi , Serena Galosi , Chiara Reale , Federica Zibordi , Agnel P Joseph , Maya Topf , Carla Piano , Anna Rita Bentivoglio , Floriano Girotti , Paolo Morana , Benedetto Morana , Manju A Kurian , Barbara Garavaglia , Niccolò E Mencacci , Steven J Lubbe , Nardo Nardocci

Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy.

European journal of neurology

Avec: B Balint , G Charlesworth , M Stamelou , L Carr , N E Mencacci , N W Wood , K P Bhatia

Replication assessment of NUS1 variants in Parkinson's disease.

Neurobiology of aging

Avec: Bernabe I Bustos , Sara Bandres-Ciga , J Raphael Gibbs , Dimitri Krainc , Niccolo E Mencacci , Ziv Gan-Or , Steven J Lubbe , Auteur inconnu

Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia.

The Journal of clinical investigation

Avec: Niccolò E Mencacci , Marisa M Brockmann , Jinye Dai , Sander Pajusalu , Burcu Atasu , Joaquin Campos , Gabriela Pino , Paulina Gonzalez-Latapi , Christopher Patzke , Michael Schwake , Arianna Tucci , Alan Pittman , Javier Simon-Sanchez , Gemma L Carvill , Bettina Balint , Sarah Wiethoff , Thomas T Warner , Apostolos Papandreou , Audrey Soo , Reet Rein , Liis Kadastik-Eerme , Sanna Puusepp , Karit Reinson , Tiiu Tomberg , Hasmet Hanagasi , Thomas Gasser , Kailash P Bhatia , Manju A Kurian , Ebba Lohmann , Katrin Õunap , Christian Rosenmund , Thomas C Südhof , Nicholas W Wood , Dimitri Krainc , Claudio Acuna

Réseau de co-auteurs

Niccolò E Mencacci 18 collaborations

Steven J Lubbe 10 collaborations

Dimitri Krainc 9 collaborations

Ignacio J Keller Sarmiento 6 collaborations

Niccolo E Mencacci 6 collaborations

Manju A Kurian 6 collaborations

Michael Zech 5 collaborations

Christine Klein 5 collaborations

Katja Lohmann 5 collaborations

None None 5 collaborations

Kailash P Bhatia 4 collaborations

Lisa Kinsley 4 collaborations

Bernabe I Bustos 4 collaborations

Juliane Winkelmann 4 collaborations

Barbara Garavaglia 4 collaborations

Kishore R Kumar 4 collaborations

Miryam Carecchio 3 collaborations

Nardo Nardocci 3 collaborations

Giovanna Zorzi 3 collaborations

Lola Cook 3 collaborations

Jeanine Schulze 3 collaborations

Jennifer Verbrugge 3 collaborations

Roy N Alcalay 3 collaborations

Carolyn M Sue 3 collaborations

Soraya Bardien 3 collaborations

Vincenzo Bonifati 3 collaborations

Tatiana Foroud 3 collaborations

Anne Hall 3 collaborations

Tanya Simuni 3 collaborations

Vincenzo Silani 3 collaborations

Cornelis Blauwendraat 3 collaborations

Paulina Gonzalez-Latapi 3 collaborations

Riccardo Berutti 3 collaborations

Sylvia Boesch 3 collaborations

Paulina Gonzàlez-Latapi 2 collaborations

Henry Houlden 2 collaborations

Avram Fraint 2 collaborations

Federica Invernizzi 2 collaborations

Holger Prokisch 2 collaborations

Gian Pal 2 collaborations

Marcelo Merello 2 collaborations

Sun Ju Chung 2 collaborations

Emilia Gatto 2 collaborations

Nobutaka Hattori 2 collaborations

Karen Marder 2 collaborations

Deborah Mascalzoni 2 collaborations

Avner Thaler 2 collaborations

Deborah Raymond 2 collaborations

Mehri Salari 2 collaborations

Ali Shalash 2 collaborations

Oksana Suchowersky 2 collaborations

Rachel Saunders-Pullman 2 collaborations

Niccolò Emanuele Mencacci 2 collaborations

Alan Pittman 2 collaborations

Liis Kadastik-Eerme 2 collaborations

John Hardy 2 collaborations

Peter Bauer 2 collaborations

Zih-Hua Fang 2 collaborations

Nicolas Marotta 2 collaborations

Rizwan S Akhtar 2 collaborations

Celeste Panteghini 2 collaborations

Andrea A Kühn 2 collaborations

Dora Steel 2 collaborations

Sniya Sudhakar 2 collaborations

Erik-Jan Kamsteeg 2 collaborations

Maya Topf 2 collaborations

Matej Škorvánek 2 collaborations

Bernhard Haslinger 2 collaborations

Robert Jech 2 collaborations

Ignacio F Mata 2 collaborations

Thomas Gasser 2 collaborations

Sarah Wiethoff 2 collaborations

Arianna Tucci 2 collaborations

N E Mencacci 2 collaborations

Murat Gultekin 1 collaboration

Neha Prakash 1 collaboration

Christos Ganos 1 collaboration

Meral Mirza 1 collaboration

Ruslan Bayramov 1 collaboration

Linyan Meng 1 collaboration

Pirjo Isohanni 1 collaboration

Yunru Shao 1 collaboration

Brett H Graham 1 collaboration

Scott E Hickey 1 collaboration

Stephanie Brooks 1 collaboration

Anu Suomalainen 1 collaboration

Pascal Joset 1 collaboration

Katharina Steindl 1 collaboration

Anita Rauch 1 collaboration

Annette Hackenberg 1 collaboration

Frances A High 1 collaboration

Amy Armstrong-Javors 1 collaboration

Walaa A Kamel 1 collaboration

Jasem Y Al-Hashel 1 collaboration

Bernabé I Bustos 1 collaboration

Alejandro V Hernandez 1 collaboration

Hilde Van Esch 1 collaboration

Chiara De Luca 1 collaboration

Katleen Ballon 1 collaboration

Claudia Ravelli 1 collaboration

Lydie Burglen 1 collaboration

Leila Qebibo 1 collaboration

Daniel G Calame 1 collaboration

Tadahiro Mitani 1 collaboration

Dana Marafi 1 collaboration

Davut Pehlivan 1 collaboration

Nebal W Saadi 1 collaboration

Yavuz Sahin 1 collaboration

Reza Maroofian 1 collaboration

Stephanie Efthymiou 1 collaboration

Shazia Maqbool 1 collaboration

Fatima Rahman 1 collaboration

Shen Gu 1 collaboration

Jennifer E Posey 1 collaboration

James R Lupski 1 collaboration

Jill V Hunter 1 collaboration

Michael F Wangler 1 collaboration

Christopher J Carroll 1 collaboration

Yaping Yang 1 collaboration

Vesna Marija van Midden 1 collaboration

Alessia Nasca 1 collaboration

Andrea Legati 1 collaboration

Chiara Frascarelli 1 collaboration

Luigi M Romito 1 collaboration

Daniele Ghezzi 1 collaboration

Tim Lynch 1 collaboration

Ivana Novaković 1 collaboration

Mari Muldmaa 1 collaboration

Katrin Sikk 1 collaboration

Pille Taba 1 collaboration

Sulev Kõks 1 collaboration

Roberto Erro 1 collaboration

Niccoló E Mencacci 1 collaboration

Roberto A Ortega 1 collaboration

Maggie Markgraf 1 collaboration

Ivana Novakovic 1 collaboration

Timothy Lynch 1 collaboration

Tatyana Simuni 1 collaboration

Joanna Blackburn 1 collaboration

Nicholas E F Hac 1 collaboration

Maura Ruzhnikov 1 collaboration

Matthea Monroe 1 collaboration

Rebecca J Levy 1 collaboration

Megan Li 1 collaboration

Lara Lange 1 collaboration

Kristin Levine 1 collaboration

Susan Fox 1 collaboration

Connie Marras 1 collaboration

Nazish Ahmed 1 collaboration

Nicole Kuznetsov 1 collaboration

Dan Vitale 1 collaboration

Hirotaka Iwaki 1 collaboration

Luca Marsili 1 collaboration

Alberto Espay 1 collaboration

Christian Beetz 1 collaboration

Jessica Martin 1 collaboration

Stewart Factor 1 collaboration

Lenora Higginbotham 1 collaboration

Honglei Chen 1 collaboration

Hampton Leonard 1 collaboration

Mike Nalls 1 collaboration

Huw Morris 1 collaboration

Ignacio Juan Keller Sarmiento 1 collaboration

Mitra Afshari 1 collaboration

H A Jinnah 1 collaboration

Demy J S Kuipers 1 collaboration

Wim Mandemakers 1 collaboration

Chin-Song Lu 1 collaboration

Simone Olgiati 1 collaboration

Guido J Breedveld 1 collaboration

Christina Fevga 1 collaboration

Vera Tadic 1 collaboration

Bradley Osterman 1 collaboration

Lena Sagi-Dain 1 collaboration

Yah-Huei Wu-Chou 1 collaboration

Chiung C Chen 1 collaboration

Hsiu-Chen Chang 1 collaboration

Shey-Lin Wu 1 collaboration

Tu-Hsueh Yeh 1 collaboration

Yi-Hsin Weng 1 collaboration

Antonio E Elia 1 collaboration

Martje G Pauly 1 collaboration

Jens Volkmann 1 collaboration

Baiba Lace 1 collaboration

Inge A Meijer 1 collaboration

Krishna Kandaswamy 1 collaboration

Marialuisa Quadri 1 collaboration

Aida M Bertoli-Avella 1 collaboration

Sophie Reining 1 collaboration

Janine Reunert 1 collaboration

Michel Tchan 1 collaboration

Lisa G Riley 1 collaboration

Alexander P Drew 1 collaboration

Robert J Adam 1 collaboration

Saskia Biskup 1 collaboration

Nicolas Derive 1 collaboration

Somayeh Bakhtiari 1 collaboration

Sheng Chih Jin 1 collaboration

Michael C Kruer 1 collaboration

Tanya Bardakjian 1 collaboration

Pedro Gonzalez-Alegre 1 collaboration

Fabienne Clot 1 collaboration

Aurélie Méneret 1 collaboration

Jean-Madeleine de Sainte Agathe 1 collaboration

Victor S C Fung 1 collaboration

Marie Vidailhet 1 collaboration

Matthias Baumann 1 collaboration

Thorsten Marquardt 1 collaboration

Kimberley M Reid 1 collaboration

Sanjana Nair 1 collaboration

Sanjay Bhate 1 collaboration

Lorenzo Biassoni 1 collaboration

Michelle Heys 1 collaboration

Elizabeth Burke 1 collaboration

None Genomics England Research Consortium 1 collaboration

Biju Hameed 1 collaboration

Katy Barwick 1 collaboration

Philip Harrer 1 collaboration

Volker Kittke 1 collaboration

Ivana Dzinovic 1 collaboration

Friederike Borngräber 1 collaboration

Mirja Thomsen 1 collaboration

Vanessa Mandel 1 collaboration

Tatiana Svorenova 1 collaboration

Miriam Ostrozovicova 1 collaboration

Kristina Kulcsarova 1 collaboration

Hauke Busch 1 collaboration

Fabian Ott 1 collaboration

Robert Kopajtich 1 collaboration

Alessio Di Fonzo 1 collaboration

Ulrike Blümlein 1 collaboration

David Weise 1 collaboration

Pingping Song 1 collaboration

Wesley Peng 1 collaboration

Veronique Sauve 1 collaboration

Rayan Fakih 1 collaboration

Zhong Xie 1 collaboration

Daniel Ysselstein 1 collaboration

Talia Krainc 1 collaboration

Yvette C Wong 1 collaboration

Jeffrey N Savas 1 collaboration

D James Surmeier 1 collaboration

Kalle Gehring 1 collaboration

Tae-Hwi Schwantes-An 1 collaboration

Karen S Marder 1 collaboration

Martha A Nance 1 collaboration

Michael A Schwarzschild 1 collaboration

Susan Bressman 1 collaboration

Anne-Marie Wills 1 collaboration

Hubert H Fernandez 1 collaboration

Irene Litvan 1 collaboration

Kelly E Lyons 1 collaboration

Holly A Shill 1 collaboration

Carlos Singer 1 collaboration

Thomas F Tropea 1 collaboration

Nora Vanegas Arroyave 1 collaboration

Janfreisy Carbonell 1 collaboration

Rossy Cruz Vicioso 1 collaboration

Linn Katus 1 collaboration

Joseph F Quinn 1 collaboration

Priscila D Hodges 1 collaboration

Yan Meng 1 collaboration

Samuel P Strom 1 collaboration

Cynthia Casaceli 1 collaboration

Shilpa C Rao 1 collaboration

Kamalini Ghosh Galvelis 1 collaboration

Anna Naito 1 collaboration

James C Beck 1 collaboration

Johanna Junker 1 collaboration

Lara M Lange 1 collaboration

Eva-Juliane Vollstedt 1 collaboration

Karisha Roopnarain 1 collaboration

Maria Leila M Doquenia 1 collaboration

Azlina Ahmad Annuar 1 collaboration

Micol Avenali 1 collaboration

Natascha Bahr 1 collaboration

Melina Ellis 1 collaboration

Caterina Galandra 1 collaboration

Peter Heutink 1 collaboration

Anastasia Illarionova 1 collaboration

Yuliia Kanana 1 collaboration

Shen-Yang Lim 1 collaboration

Harutyun Madoev 1 collaboration

Mike A Nalls 1 collaboration

Shalini Padmanabhan 1 collaboration

Cholpon Shambetova 1 collaboration

J C Solle 1 collaboration

Ai-Huey Tan 1 collaboration

Joanne Trinh 1 collaboration

Enza Maria Valente 1 collaboration

Andrew Singleton 1 collaboration

Chen Zhao 1 collaboration

Katy E S Barwick 1 collaboration

Derek Burke 1 collaboration

Diane Demailly 1 collaboration

Rauan Kaiyrzhanov 1 collaboration

Matias Wagner 1 collaboration

Arcangela Iuso 1 collaboration

Ján Necpál 1 collaboration

Ryan Davis 1 collaboration

Kshitij Mankad 1 collaboration

Arianna Ferrini 1 collaboration

Suvasini Sharma 1 collaboration

Marina A Tijssen 1 collaboration

Corien Verschuuren 1 collaboration

Martje E van Egmond 1 collaboration

Joanna M Flowers 1 collaboration

Meriel McEntagart 1 collaboration

Philippe Coubes 1 collaboration

Stephen Tisch 1 collaboration

Paul Darveniza 1 collaboration

Kathleen M Gorman 1 collaboration

Kathryn J Peall 1 collaboration

Kai Bötzel 1 collaboration

Jan C Koch 1 collaboration

Tomasz Kmieć 1 collaboration

Barbara Plecko 1 collaboration

Nick Wood 1 collaboration

Paul Gissen 1 collaboration

Laura Cif 1 collaboration

Glenn Anderson 1 collaboration

Regina Reynolds 1 collaboration

Sonia Garcia Ruiz 1 collaboration

Jana Vandrovcova 1 collaboration

Paola Forabosco 1 collaboration

Alvaro Sánchez-Ferrer 1 collaboration

Viola Volpato 1 collaboration

Michael E Weale 1 collaboration

Caleb Webber 1 collaboration

Juan A Botía 1 collaboration

Mina Ryten 1 collaboration

A Iodice 1 collaboration

M Carecchio 1 collaboration

G Zorzi 1 collaboration

B Garavaglia 1 collaboration

C Spagnoli 1 collaboration

G G Salerno 1 collaboration

D Frattini 1 collaboration

F Invernizzi 1 collaboration

L Veneziano 1 collaboration

E Mantuano 1 collaboration

M Angriman 1 collaboration

C Fusco 1 collaboration

Luigi Romito 1 collaboration

Vincenzo Leuzzi 1 collaboration

Serena Galosi 1 collaboration

Chiara Reale 1 collaboration

Federica Zibordi 1 collaboration

Agnel P Joseph 1 collaboration

Carla Piano 1 collaboration

Anna Rita Bentivoglio 1 collaboration

Floriano Girotti 1 collaboration

Paolo Morana 1 collaboration

Benedetto Morana 1 collaboration

B Balint 1 collaboration

G Charlesworth 1 collaboration

M Stamelou 1 collaboration

L Carr 1 collaboration

N W Wood 1 collaboration

K P Bhatia 1 collaboration

Sara Bandres-Ciga 1 collaboration

J Raphael Gibbs 1 collaboration

Ziv Gan-Or 1 collaboration

Marisa M Brockmann 1 collaboration

Jinye Dai 1 collaboration

Sander Pajusalu 1 collaboration

Burcu Atasu 1 collaboration

Joaquin Campos 1 collaboration

Gabriela Pino 1 collaboration

Christopher Patzke 1 collaboration

Michael Schwake 1 collaboration

Javier Simon-Sanchez 1 collaboration

Gemma L Carvill 1 collaboration

Bettina Balint 1 collaboration

Thomas T Warner 1 collaboration

Apostolos Papandreou 1 collaboration

Audrey Soo 1 collaboration

Reet Rein 1 collaboration

Sanna Puusepp 1 collaboration

Karit Reinson 1 collaboration

Tiiu Tomberg 1 collaboration

Hasmet Hanagasi 1 collaboration

Ebba Lohmann 1 collaboration

Katrin Õunap 1 collaboration

Christian Rosenmund 1 collaboration

Thomas C Südhof 1 collaboration

Nicholas W Wood 1 collaboration

Claudio Acuna 1 collaboration