Robert Kopajtich

Holger Prokisch 26 collaborations

Matias Wagner 9 collaborations

Johannes A Mayr 8 collaborations

Christian Staufner 7 collaborations

Saskia B Wortmann 7 collaborations

Dominic Lenz 6 collaborations

Sarah L Stenton 5 collaborations

Riccardo Berutti 5 collaborations

Maja Hempel 5 collaborations

Robert W Taylor 5 collaborations

Thomas Meitinger 5 collaborations

Juliane Winkelmann 5 collaborations

Felix Distelmaier 4 collaborations

Peter Freisinger 4 collaborations

Fang Fang 4 collaborations

Daniele Ghezzi 4 collaborations

Chiara La Morgia 4 collaborations

Valerio Carelli 4 collaborations

Sylvia Boesch 4 collaborations

Michael Zech 4 collaborations

Joanne Hughes 4 collaborations

Elke Lainka 4 collaborations

Dmitrii Smirnov 4 collaborations

Thomas Klopstock 3 collaborations

Costanza Lamperti 3 collaborations

Manting Xu 3 collaborations

Dorota Piekutowska-Abramczuk 3 collaborations

Leonardo Caporali 3 collaborations

Flavia Palombo 3 collaborations

Amelie T van der Ven 3 collaborations

Korbinian M Riedhammer 3 collaborations

Rosalba Carrozzo 3 collaborations

Ellen Crushell 3 collaborations

Alyssa Bianzano 3 collaborations

Simone Kathemann 3 collaborations

Stefan Kölker 3 collaborations

Georg F Hoffmann 3 collaborations

René Santer 3 collaborations

Theresa Brunet 3 collaborations

Robert Jech 3 collaborations

Robert McFarland 3 collaborations

Christina Ludwig 2 collaborations

Mirjana Gusic 2 collaborations

Charlotte L Alston 2 collaborations

Elżbieta Ciara 2 collaborations

Tatiana D Krylova 2 collaborations

Tim M Strom 2 collaborations

Kei Murayama 2 collaborations

Matthias Elstner 2 collaborations

Zhimei Liu 2 collaborations

Junling Wang 2 collaborations

Piero Barboni 2 collaborations

Michele Carbonelli 2 collaborations

Reka Kovacs-Nagy 2 collaborations

Alessandra Maresca 2 collaborations

Francesca Tagliavini 2 collaborations

Ilka Wittig 2 collaborations

Bader Alhaddad 2 collaborations

Tobias B Haack 2 collaborations

Enrico Bertini 2 collaborations

Saskia Wortmann 2 collaborations

Federica Invernizzi 2 collaborations

Nicola Dikow 2 collaborations

Bianca Peters 2 collaborations

Buket Dalgıç 2 collaborations

Anibh M Das 2 collaborations

Nedim Hadzic 2 collaborations

Vassiliki Konstantopoulou 2 collaborations

Alice Kuster 2 collaborations

Martin W Laass 2 collaborations

Eberhard Lurz 2 collaborations

Patrick McKiernan 2 collaborations

Karine Mention 2 collaborations

Jerry Vockley 2 collaborations

Sven F Garbade 2 collaborations

Ainhoa Pascual-Alonso 2 collaborations

Clara Xiol 2 collaborations

Judith Armstrong 2 collaborations

Ivo Baric 2 collaborations

Melanie Brugger 2 collaborations

René G Feichtinger 2 collaborations

Johannes Koch 2 collaborations

Benedikt Zott 2 collaborations

Christian Beetz 2 collaborations

Laura S Kremer 1 collaboration

Vicente A Yépez 1 collaboration

Christian Mertes 1 collaboration

Nicholas H Smith 1 collaboration

Rui Ban 1 collaboration

Skadi Beblo 1 collaboration

Holger Blessing 1 collaboration

Johannes Häberle 1 collaboration

Susan J Hayflick 1 collaboration

Yulia S Itkis 1 collaboration

Yoshihito Kishita 1 collaboration

Christine Makowski 1 collaboration

Signe Mosegaard 1 collaboration

Michaela F Müller 1 collaboration

Gerard Muñoz-Pujol 1 collaboration

Agnieszka Nadel 1 collaboration

Akira Ohtake 1 collaboration

Yasushi Okazaki 1 collaboration

Elena Procopio 1 collaboration

Thomas Schwarzmayr 1 collaboration

Joél Smet 1 collaboration

Caterina Terrile 1 collaboration

Frederic Tort 1 collaboration

Rudy Van Coster 1 collaboration

Arnaud Vanlander 1 collaboration

Antonia Ribes 1 collaboration

Agnès Rötig 1 collaboration

Julien Gagneur 1 collaboration

Zhaoxia Wang 1 collaboration

Natalia L Sheremet 1 collaboration

Claudia B Catarino 1 collaboration

Natalia A Andreeva 1 collaboration

Zahra Assouline 1 collaboration

Ortal Barel 1 collaboration

Igor Bychkov 1 collaboration

Mariantonietta Capristo 1 collaboration

Maria L Cascavilla 1 collaboration

Peter Charbel Issa 1 collaboration

Sylvie Gerber 1 collaboration

Elisabeth Graf 1 collaboration

Juliana Heidler 1 collaboration

Elise Heon 1 collaboration

Yulya S Itkis 1 collaboration

Elisheva Javasky 1 collaboration

Josseline Kaplan 1 collaboration

Cornelia Kornblum 1 collaboration

Wolfram S Kunz 1 collaboration

Pedro F Malacarne 1 collaboration

Jana Meisterknecht 1 collaboration

Tatiana A Nevinitsyna 1 collaboration

Ben Pode-Shakked 1 collaboration

Maria S Shmelkova 1 collaboration

Michal Tzadok 1 collaboration

Catherine Vignal-Clermont 1 collaboration

Ekaterina Y Zakharova 1 collaboration

Nino V Zhorzholadze 1 collaboration

Jean-Michel Rozet 1 collaboration

Polina G Tsygankova 1 collaboration

Sylvia Stockler 1 collaboration

Rafal Ploski 1 collaboration

Maren Wenzel 1 collaboration

Burkhard Adis-Dutschmann 1 collaboration

Uwe Ahting 1 collaboration

Astrid Blaschek 1 collaboration

Jessica Lee 1 collaboration

Victor Murcia Pienkowski 1 collaboration

Agnieszka Pollak 1 collaboration

Krystyna Szymanska 1 collaboration

Maja Tarailo-Graovac 1 collaboration

Robin van der Lee 1 collaboration

Clara D van Karnebeek 1 collaboration

Ingeborg Krägeloh-Mann 1 collaboration

Katharina Vill 1 collaboration

Valentina Del Dotto 1 collaboration

Farid Ullah 1 collaboration

Ivano Di Meo 1 collaboration

Pamela Magini 1 collaboration

Evan Harris Baugh 1 collaboration

Bertil Macao 1 collaboration

Zsolt Szilagyi 1 collaboration

Camille Peron 1 collaboration

Margaret A Gustafson 1 collaboration

Kamal Khan 1 collaboration

Maria Lucia Valentino 1 collaboration

Rocco Liguori 1 collaboration

Vandana Shashi 1 collaboration

Jennifer Sullivan 1 collaboration

Shashi Nagaraj 1 collaboration

Mays El-Dairi 1 collaboration

Alessandro Iannaccone 1 collaboration

Ioana Cutcutache 1 collaboration

Francesco Emma 1 collaboration

Francesca Diomedi-Camassei 1 collaboration

Claudia Zanna 1 collaboration

Martin Armstrong 1 collaboration

Matthew Page 1 collaboration

Nicholas Stong 1 collaboration

Wolfgang Sperl 1 collaboration

Erica E Davis 1 collaboration

William C Copeland 1 collaboration

Marco Seri 1 collaboration

Maria Falkenberg 1 collaboration

Nicholas Katsanis 1 collaboration

Valeria Tiranti 1 collaboration

Tommaso Pippucci 1 collaboration

Barbara Garavaglia 1 collaboration

Sadeq Vallian 1 collaboration

Luigi M Romito 1 collaboration

Giulia Straccia 1 collaboration

Marianna Capecci 1 collaboration

Elisa Andrenelli 1 collaboration

Arezu Kazemi 1 collaboration

Nahid Olfati 1 collaboration

Mohammad Shariati 1 collaboration

Ali Shoeibi 1 collaboration

Ariane Sadr-Nabavi 1 collaboration

Desirée E C Smith 1 collaboration

Ralf A Husain 1 collaboration

Gajja S Salomons 1 collaboration

Jonathan A Bernstein 1 collaboration

Saskia Biskup 1 collaboration

Heiko Brennenstuhl 1 collaboration

Dominique Caldari 1 collaboration

Andrea Hanson-Kahn 1 collaboration

Inga Harting 1 collaboration

Denise Horn 1 collaboration

Maya Huijberts 1 collaboration

Bertrand Isidor 1 collaboration

Urania Kotzaeridou 1 collaboration

Sébastien Küry 1 collaboration

Lucia Laugwitz 1 collaboration

James R Lupski 1 collaboration

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Claire Reynolds 1 collaboration

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Julian Schröter 1 collaboration

Fleur Vansenne 1 collaboration

Claudia Weiß 1 collaboration

Bruce H R Wolffenbuttel 1 collaboration

Marisa I Mendes 1 collaboration

Seham Alameer 1 collaboration

Ivo Barić 1 collaboration

Pierre Broué 1 collaboration

Derya Bulut 1 collaboration

Joseph A Church 1 collaboration

Anke Dick 1 collaboration

Carlo Dionisi-Vici 1 collaboration

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François Feillet 1 collaboration

Emmanuel Gonzales 1 collaboration

Fabian Hauck 1 collaboration

Robert Hegarty 1 collaboration

Theresia Herget 1 collaboration

Christoph Klein 1 collaboration

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Alexander Leibner 1 collaboration

Ute Moog 1 collaboration

Neslihan Onenli Mungan 1 collaboration

Irene Valenzuela Palafoll 1 collaboration

Dominik S Westphal 1 collaboration

Arnaud Wiedemann 1 collaboration

Gaurav D Diwan 1 collaboration

Robert B Russell 1 collaboration

Courtney N Link 1 collaboration

Supuni Thalalla Gamage 1 collaboration

Diamond Gallimore 1 collaboration

Christine Evans 1 collaboration

Samantha Nance 1 collaboration

Stephen D Fox 1 collaboration

Thorkell Andresson 1 collaboration

Raj Chari 1 collaboration

Joseph Ivanic 1 collaboration

Jordan L Meier 1 collaboration

Lea D Schlieben 1 collaboration

Masaru Shimura 1 collaboration

Rüdiger Adam 1 collaboration

Denise Aldrian 1 collaboration

Ulrich Baumann 1 collaboration

Neslihan Eksi Bozbulut 1 collaboration

Philip Bufler 1 collaboration

Birutė Burnytė 1 collaboration

Pier Luigi Calvo 1 collaboration

Antal Dezsőfi 1 collaboration

Alexander Fichtner 1 collaboration

Harald Gaspar 1 collaboration

Louise Goujon 1 collaboration

Steffen Hartleif 1 collaboration

Bianca Hegen 1 collaboration

Stephan Henning 1 collaboration

Andre Hoerning 1 collaboration

Roderick Houwen 1 collaboration

Raffaele Iorio 1 collaboration

Katarzyna Iwanicka-Pronicka 1 collaboration

Martin Jankofsky 1 collaboration

Norman Junge 1 collaboration

Ino Kanavaki 1 collaboration

Aydan Kansu 1 collaboration

Sonja Kaspar 1 collaboration

Deidre Kelly 1 collaboration

Ceyda Tuna Kırsaçlıoğlu 1 collaboration

Birgit Knoppke 1 collaboration

Martina Kohl 1 collaboration

Heike Kölbel 1 collaboration

Tatiana Krylova 1 collaboration

Zarife Kuloğlu 1 collaboration

Hanna Mandel 1 collaboration

Katharina Mayerhanser 1 collaboration

Patricia McLean 1 collaboration

Valerie McLin 1 collaboration

Hanna Müller 1 collaboration

Laurent Pasquier 1 collaboration

Martin Pavlov 1 collaboration

Natalia Pechatnikova 1 collaboration

Danijela Petković Ramadža 1 collaboration

Denisa Pilic 1 collaboration

Sanjay Rajwal 1 collaboration

Nathalie Rock 1 collaboration

Agnès Roetig 1 collaboration

Wilfried Schenk 1 collaboration

Natalia Semenova 1 collaboration

Christiane Sokollik 1 collaboration

Ekkehard Sturm 1 collaboration

Eva Tschiedel 1 collaboration

Vaidotas Urbonas 1 collaboration

Roser Urreizti 1 collaboration

Jan Vermehren 1 collaboration

Georg-Friedrich Vogel 1 collaboration

Wendy van der Woerd 1 collaboration

Ekaterina Zakharova 1 collaboration

Georg Friedrich Hoffmann 1 collaboration

Barbara Voraberger 1 collaboration

Nadja Fratzl-Zelman 1 collaboration

Stéphane Blouin 1 collaboration

Suma Uday 1 collaboration

Marijke Koedam 1 collaboration

Helena Hödlmayr 1 collaboration

Bernhard Csillag 1 collaboration

Bram C J van der Eerden 1 collaboration

Ahmed El-Gazzar 1 collaboration

Wolfgang Högler 1 collaboration

Nicola Kleine-Eggebrecht 1 collaboration

Magdeldin Elgizouli 1 collaboration

Lea Kulterer 1 collaboration

Kristl G Claeys 1 collaboration

Johannes Eisen 1 collaboration

Rafał Płoski 1 collaboration

Ewa Pronicka 1 collaboration

Katarzyna Malczyk 1 collaboration

Katja Steinbrücker 1 collaboration

Céline Bris 1 collaboration

Naig Gueguen 1 collaboration

Melanie T Achleitner 1 collaboration

Neslihan Duzkale 1 collaboration

Maximilien Périvier 1 collaboration

Harald Engelhardt 1 collaboration

Tharsini Navaratnarajah 1 collaboration

Richard J T Rodenburg 1 collaboration

Lynn S Pais 1 collaboration

Christina Austin-Tse 1 collaboration

Melanie O'Leary 1 collaboration

Somayeh Bakhtiari 1 collaboration

Sheng Chih Jin 1 collaboration

Friederike Wilbert 1 collaboration

Michael C Kruer 1 collaboration

Matthias Eckenweiler 1 collaboration

Robert Steinfeld 1 collaboration

Philip Harrer 1 collaboration

Matej Škorvánek 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

Kishore R Kumar 1 collaboration

Niccolo E Mencacci 1 collaboration

Manju A Kurian 1 collaboration

Alessio Di Fonzo 1 collaboration

Andrea A Kühn 1 collaboration

Ulrike Blümlein 1 collaboration

Katja Lohmann 1 collaboration

Bernhard Haslinger 1 collaboration

David Weise 1 collaboration

Victoria Lieftüchter 1 collaboration

Axel Schmidt 1 collaboration

Philipp Peters 1 collaboration

Malin Zaddach 1 collaboration

Hanna Zimmermann 1 collaboration

Irina Hüning 1 collaboration

Diana Ballhausen 1 collaboration

Anita Devlin 1 collaboration

Mihaela Mihaljević 1 collaboration

Nina Barišić 1 collaboration

Meino Rohlfs 1 collaboration

Sibylle Wilfling 1 collaboration

Neal Sondheimer 1 collaboration

Stacy Hewson 1 collaboration

Nikolaos M Marinakis 1 collaboration

Konstantina Kosma 1 collaboration

Joanne Traeger-Synodinos 1 collaboration

Miriam Elbracht 1 collaboration

Matthias Begemann 1 collaboration

Sonja Trepels-Kottek 1 collaboration

Dimah Hasan 1 collaboration

Marcello Scala 1 collaboration

Valeria Capra 1 collaboration

Federico Zara 1 collaboration

Joenna Driemeyer 1 collaboration

Christian Apitz 1 collaboration

Johannes Krämer 1 collaboration

Alanna Strong 1 collaboration

Hakon Hakonarson 1 collaboration

Deborah Watson 1 collaboration

Ingo Borggraefe 1 collaboration

Juliane Spiegler 1 collaboration

Marco Paolini 1 collaboration

Lucia Gerstl 1 collaboration

Beryll Blickhäuser 1 collaboration

Christiane M Neuhofer 1 collaboration

Elisa Floride 1 collaboration

Victoria Nesbitt 1 collaboration

Carl Fratter 1 collaboration

Birgit Kauffmann 1 collaboration

Claudia Catarino 1 collaboration

Lea Dewi Schlieben 1 collaboration

Alfredo A Sadun 1 collaboration

Stéphanie Paquay 1 collaboration

Marie Cécile Nassogne 1 collaboration

Jo Poulton 1 collaboration

Thomas B Smith 1 collaboration

Leigh A M Demain 1 collaboration

Alessandro Rea 1 collaboration

Huw B Thomas 1 collaboration

Manuel Schiff 1 collaboration

Shelagh Joss 1 collaboration

Gerard S Conway 1 collaboration

Anju Shukla 1 collaboration

Mayuri Yeole 1 collaboration

Periyasamy Radhakrishnan 1 collaboration

Hatem Azzouz 1 collaboration

Amel Ben Chehida 1 collaboration

Monique Elmaleh-Bergès 1 collaboration

Ruth I C Glasgow 1 collaboration

Kyle Thompson 1 collaboration

Monika Oláhová 1 collaboration

Langping He 1 collaboration

Emma M Jenkinson 1 collaboration

Amir Jahic 1 collaboration

Inna A Belyantseva 1 collaboration

Melanie Barzik 1 collaboration

Jill E Urquhart 1 collaboration

James O' Sullivan 1 collaboration

Simon G Williams 1 collaboration

Sanjeev S Bhaskar 1 collaboration

Samantha Carrera 1 collaboration

Alexander J M Blakes 1 collaboration

Siddharth Banka 1 collaboration

Wyatt W Yue 1 collaboration

Jamie M Ellingford 1 collaboration

Henry Houlden 1 collaboration

None None 1 collaboration

Kevin J Munro 1 collaboration

Thomas B Friedman 1 collaboration

Raymond T O'Keefe 1 collaboration

William G Newman 1 collaboration

Makenzie Saoura 1 collaboration

Christopher A Powell 1 collaboration

Ahmad Alahmad 1 collaboration

Haya H Al-Balool 1 collaboration

Buthaina Albash 1 collaboration

Majid Alfadhel 1 collaboration

Penelope E Bonnen 1 collaboration

Drago Bratkovic 1 collaboration

Maria A Donati 1 collaboration

Michela Di Nottia 1 collaboration

Amy Goldstein 1 collaboration

Eric Haan 1 collaboration

Rita Horvath 1 collaboration

Eleonora Lamantea 1 collaboration

Benjamin Lucas 1 collaboration

Kyla-Gaye Pinnock 1 collaboration

Maria Pujantell 1 collaboration

Shamima Rahman 1 collaboration

Pedro Rebelo-Guiomar 1 collaboration

Saikat Santra 1 collaboration

Daniela Verrigni 1 collaboration

Louis Levinger 1 collaboration

Michal Minczuk 1 collaboration

Hua Li 1 collaboration

Margot A Cousin 1 collaboration

Erin Conboy 1 collaboration

Jian-She Wang 1 collaboration

Tanya L Schwab 1 collaboration

Monique Williams 1 collaboration

Roshini S Abraham 1 collaboration

Sarah Barnett 1 collaboration

Mounif El-Youssef 1 collaboration

Rondell P Graham 1 collaboration

Luz Helena Gutierrez Sanchez 1 collaboration

Linda Hasadsri 1 collaboration

Nathan C Hull 1 collaboration

Jia-Qi Li 1 collaboration

Daniela Marx-Berger 1 collaboration

Valérie McLin 1 collaboration

Mark A McNiven 1 collaboration

Taofic Mounajjed 1 collaboration

Daisy Rymen 1 collaboration

Ryan J Schulze 1 collaboration

Ye Yang 1 collaboration

Karl J Clark 1 collaboration

Brendan C Lanpher 1 collaboration

Eric W Klee 1 collaboration

Anna L Burgemeister 1 collaboration

Vincent Cantagrel 1 collaboration

Jeanne Amiel 1 collaboration

Karine Siquier-Pernet 1 collaboration

Nathalie Boddaert 1 collaboration

Jozef Hertecant 1 collaboration

Patricia L Kannouche 1 collaboration

Caroline Pouvelle 1 collaboration

Stephanie Htun 1 collaboration

Anne M Slavotinek 1 collaboration

Dan Diego-Alvarez 1 collaboration

Kapil Kampe 1 collaboration

Nicole Fleischer 1 collaboration

Zain Awamleh 1 collaboration

Rosanna Weksberg 1 collaboration

Jehan Suleiman 1 collaboration

Ayman W El-Hattab 1 collaboration

Antonella Lauri 1 collaboration

Yan Zhen 1 collaboration

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Viviana Cordeddu 1 collaboration

Francesca Clementina Radio 1 collaboration

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Simone Pizzi 1 collaboration

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Maria Arelin 1 collaboration

Cristiane Blechschmidt 1 collaboration

Tom Finck 1 collaboration

Vigdis Sørensen 1 collaboration

Kornelia Kreiser 1 collaboration

Gertrud Strobl-Wildemann 1 collaboration

Hagit Daum 1 collaboration

Rachel Michaelson-Cohen 1 collaboration

Lucia Ziccardi 1 collaboration

Giuseppe Zampino 1 collaboration

Rami Abou Jamra 1 collaboration

Claudio Fiorini 1 collaboration

Thomas Arzberger 1 collaboration

Harald Stenmark 1 collaboration

Marco Tartaglia 1 collaboration

Rober Kopajtich 1 collaboration

Alfredo Cabrera-Orefice 1 collaboration

Isabell Wente 1 collaboration

Konstantinos Tsiakas 1 collaboration

Deike Weiss 1 collaboration

Tatjana Bierhals 1 collaboration

Leila Scholle 1 collaboration

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Lucia Barazzuol 1 collaboration

Andrea Salmaso 1 collaboration

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Adamantia Deligiannopoulou 1 collaboration

Ángeles García Cazorla 1 collaboration

Se Song Jang 1 collaboration

Natalia Juliá-Palacios 1 collaboration

Boris Keren 1 collaboration

Sally Ann Lynch 1 collaboration

Cyril Mignot 1 collaboration

Catherine Moorwood 1 collaboration

Christiane Neuhofer 1 collaboration

Vincenzo Nigro 1 collaboration

Anna Oostra 1 collaboration

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Patrick Verloo 1 collaboration

Elise Yazbeck 1 collaboration

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Affiliations

Publications (28)

The diagnosis of inborn errors of metabolism by an integrative "multi-omics" approach: A perspective encompassing genomics, transcriptomics, and proteomics.

Clinical implementation of RNA sequencing for Mendelian disease diagnostics.

Identification of a Novel Variant in

Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.

De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy.

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.

AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism.

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1.

Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.

Protonation-Dependent Sequencing of 5-Formylcytidine in RNA.

Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach.

Genetic landscape of pediatric acute liver failure of indeterminate origin.

Investigating the role of ASCC1 in the causation of bone fragility.

Mutation in

Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance.

Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.

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

De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.

Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.

Biallelic variants in

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.

Identification of a novel m.3955G > A variant in MT-ND1 associated with Leigh syndrome.

RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.

Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency.

Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.

Multi-omics in MECP2 duplication syndrome patients and carriers.

Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease.

ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.

Réseau de co-auteurs