Holger Prokisch

Affiliations

Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.
Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.

Publications (88)

Identification of a Novel Variant in

Frontiers in genetics

Avec: Manting Xu , Robert Kopajtich , Matthias Elstner , Zhaoxia Wang , Zhimei Liu , Junling Wang , Holger Prokisch , Fang Fang

DNA methylation and lipid metabolism: an EWAS of 226 metabolic measures.

Clinical epigenetics

Avec: Monica Del C Gomez-Alonso , Anja Kretschmer , Rory Wilson , Liliane Pfeiffer , Ville Karhunen , Ilkka Seppälä , Weihua Zhang , Kirstin Mittelstraß , Simone Wahl , Pamela R Matias-Garcia , Holger Prokisch , Sacha Horn , Thomas Meitinger , Luis R Serrano-Garcia , Sylvain Sebert , Olli Raitakari , Marie Loh , Wolfgang Rathmann , Martina Müller-Nurasyid , Christian Herder , Michael Roden , Mikko Hurme , Marjo-Riitta Jarvelin , Mika Ala-Korpela , Jaspal S Kooner , Annette Peters , Terho Lehtimäki , John C Chambers , Christian Gieger , Johannes Kettunen , Melanie Waldenberger

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

The Journal of clinical investigation

Avec: Sarah L Stenton , Natalia L Sheremet , Claudia B Catarino , Natalia A Andreeva , Zahra Assouline , Piero Barboni , Ortal Barel , Riccardo Berutti , Igor Bychkov , Leonardo Caporali , Mariantonietta Capristo , Michele Carbonelli , Maria L Cascavilla , Peter Charbel Issa , Peter Freisinger , Sylvie Gerber , Daniele Ghezzi , Elisabeth Graf , Juliana Heidler , Maja Hempel , Elise Heon , Yulya S Itkis , Elisheva Javasky , Josseline Kaplan , Robert Kopajtich , Cornelia Kornblum , Reka Kovacs-Nagy , Tatiana D Krylova , Wolfram S Kunz , Chiara La Morgia , Costanza Lamperti , Christina Ludwig , Pedro F Malacarne , Alessandra Maresca , Johannes A Mayr , Jana Meisterknecht , Tatiana A Nevinitsyna , Flavia Palombo , Ben Pode-Shakked , Maria S Shmelkova , Tim M Strom , Francesca Tagliavini , Michal Tzadok , Amelie T van der Ven , Catherine Vignal-Clermont , Matias Wagner , Ekaterina Y Zakharova , Nino V Zhorzholadze , Jean-Michel Rozet , Valerio Carelli , Polina G Tsygankova , Thomas Klopstock , Ilka Wittig , Holger Prokisch

The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi-omic pipelines.

The Journal of pathology

Avec: Charlotte L Alston , Sarah L Stenton , Gavin Hudson , Holger Prokisch , Robert W Taylor

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

The Journal of clinical investigation

Avec: Valentina Del Dotto , Farid Ullah , Ivano Di Meo , Pamela Magini , Mirjana Gusic , Alessandra Maresca , Leonardo Caporali , Flavia Palombo , Francesca Tagliavini , Evan Harris Baugh , Bertil Macao , Zsolt Szilagyi , Camille Peron , Margaret A Gustafson , Kamal Khan , Chiara La Morgia , Piero Barboni , Michele Carbonelli , Maria Lucia Valentino , Rocco Liguori , Vandana Shashi , Jennifer Sullivan , Shashi Nagaraj , Mays El-Dairi , Alessandro Iannaccone , Ioana Cutcutache , Enrico Bertini , Rosalba Carrozzo , Francesco Emma , Francesca Diomedi-Camassei , Claudia Zanna , Martin Armstrong , Matthew Page , Nicholas Stong , Sylvia Boesch , Robert Kopajtich , Saskia Wortmann , Wolfgang Sperl , Erica E Davis , William C Copeland , Marco Seri , Maria Falkenberg , Holger Prokisch , Nicholas Katsanis , Valeria Tiranti , Tommaso Pippucci , Valerio Carelli

Homozygous frame shift variant in ATP7B exon 1 leads to bypass of nonsense-mediated mRNA decay and to a protein capable of copper export.

European journal of human genetics : EJHG

Avec: Amelie Stalke , Eva-Doreen Pfister , Ulrich Baumann , Marlies Eilers , Vera Schäffer , Thomas Illig , Bernd Auber , Brigitte Schlegelberger , Renate Brackmann , Holger Prokisch , Simon Krooss , Jens Bohne , Britta Skawran

Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.

American journal of human genetics

Avec: Mirjana Gusic , Gudrun Schottmann , René G Feichtinger , Chen Du , Caroline Scholz , Matias Wagner , Johannes A Mayr , Chae-Young Lee , Vicente A Yépez , Norbert Lorenz , Susanne Morales-Gonzalez , Daan M Panneman , Agnès Rötig , Richard J T Rodenburg , Saskia B Wortmann , Holger Prokisch , Markus Schuelke

Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation.

Communications biology

Avec: Alexandra Stavsky , Ohad Stoler , Marko Kostic , Tomer Katoshevsky , Essam A Assali , Ivana Savic , Yael Amitai , Holger Prokisch , Steffen Leiz , Cornelia Daumer-Haas , Ilya Fleidervish , Fabiana Perocchi , Daniel Gitler , Israel Sekler

Comparison of genetic risk prediction models to improve prediction of coronary heart disease in two large cohorts of the MONICA/KORA study.

Genetic epidemiology

Avec: Alina Bauer , Astrid Zierer , Christian Gieger , Mustafa Büyüközkan , Martina Müller-Nurasyid , Harald Grallert , Christa Meisinger , Konstantin Strauch , Holger Prokisch , Michael Roden , Annette Peters , Jan Krumsiek , Christian Herder , Wolfgang Koenig , Barbara Thorand , Cornelia Huth

Epigenome-wide association study of serum urate reveals insights into urate co-regulation and the SLC2A9 locus.

Nature communications

Avec: Adrienne Tin , Pascal Schlosser , Pamela R Matias-Garcia , Chris H L Thio , Roby Joehanes , Hongbo Liu , Zhi Yu , Antoine Weihs , Anselm Hoppmann , Franziska Grundner-Culemann , Josine L Min , Victoria L Halperin Kuhns , Adebowale A Adeyemo , Charles Agyemang , Johan Ärnlöv , Nasir A Aziz , Andrea Baccarelli , Murielle Bochud , Hermann Brenner , Jan Bressler , Monique M B Breteler , Cristian Carmeli , Layal Chaker , Josef Coresh , Tanguy Corre , Adolfo Correa , Simon R Cox , Graciela E Delgado , Kai-Uwe Eckardt , Arif B Ekici , Karlhans Endlich , James S Floyd , Eliza Fraszczyk , Xu Gao , Xīn Gào , Allan C Gelber , Mohsen Ghanbari , Sahar Ghasemi , Christian Gieger , Philip Greenland , Megan L Grove , Sarah E Harris , Gibran Hemani , Peter Henneman , Christian Herder , Steve Horvath , Lifang Hou , Mikko A Hurme , Shih-Jen Hwang , Sharon L R Kardia , Silva Kasela , Marcus E Kleber , Wolfgang Koenig , Jaspal S Kooner , Florian Kronenberg , Brigitte Kühnel , Christine Ladd-Acosta , Terho Lehtimäki , Lars Lind , Dan Liu , Donald M Lloyd-Jones , Stefan Lorkowski , Ake T Lu , Riccardo E Marioni , Winfried März , Daniel L McCartney , Karlijn A C Meeks , Lili Milani , Pashupati P Mishra , Matthias Nauck , Christoph Nowak , Annette Peters , Holger Prokisch , Bruce M Psaty , Olli T Raitakari , Scott M Ratliff , Alex P Reiner , Ben Schöttker , Joel Schwartz , Sanaz Sedaghat , Jennifer A Smith , Nona Sotoodehnia , Hannah R Stocker , Silvia Stringhini , Johan Sundström , Brenton R Swenson , Joyce B J van Meurs , Jana V van Vliet-Ostaptchouk , Andrea Venema , Uwe Völker , Juliane Winkelmann , Bruce H R Wolffenbuttel , Wei Zhao , Yinan Zheng , Auteur inconnu , Auteur inconnu , Marie Loh , Harold Snieder , Melanie Waldenberger , Daniel Levy , Shreeram Akilesh , Owen M Woodward , Katalin Susztak , Alexander Teumer , Anna Köttgen

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

Parkinsonism & related disorders

Avec: Barbara Garavaglia , Sadeq Vallian , Luigi M Romito , Giulia Straccia , Marianna Capecci , Federica Invernizzi , Elisa Andrenelli , Arezu Kazemi , Sylvia Boesch , Robert Kopajtich , Nahid Olfati , Mohammad Shariati , Ali Shoeibi , Ariane Sadr-Nabavi , Holger Prokisch , Juliane Winkelmann , Michael Zech

Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease.

Nature metabolism

Avec: Andrew Y Sung , Rachel M Guerra , Laura H Steenberge , Charlotte L Alston , Kei Murayama , Yasushi Okazaki , Masaru Shimura , Holger Prokisch , Daniele Ghezzi , Alessandra Torraco , Rosalba Carrozzo , Agnès Rötig , Robert W Taylor , James L Keck , David J Pagliarini

Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier.

Nutrients

Avec: Bigna K Bölsterli , Eugen Boltshauser , Luigi Palmieri , Johannes Spenger , Michaela Brunner-Krainz , Felix Distelmaier , Peter Freisinger , Tobias Geis , Andrea L Gropman , Johannes Häberle , Julia Hentschel , Bruno Jeandidier , Daniela Karall , Boris Keren , Annick Klabunde-Cherwon , Vassiliki Konstantopoulou , Raimund Kottke , Francesco M Lasorsa , Christine Makowski , Cyril Mignot , Ruth O'Gorman Tuura , Vito Porcelli , René Santer , Kuntal Sen , Katja Steinbrücker , Steffen Syrbe , Matias Wagner , Andreas Ziegler , Thomas Zöggeler , Johannes A Mayr , Holger Prokisch , Saskia B Wortmann

ACTB gene mutation in combined Dystonia-Deafness syndrome with parkinsonism: Expanding the phenotype and highlighting the long-term GPi DBS outcome.

Parkinsonism & related disorders

Avec: Giulia Straccia , Chiara Reale , Massimo Castellani , Isabel Colangelo , Eva Orunesu , Sara Meoni , Elena Moro , Paul Krack , Holger Prokisch , Michael Zech , Luigi Michele Romito , Barbara Garavaglia

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.

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

Avec: Georg F Vogel , Yael Mozer-Glassberg , Yuval E Landau , Lea D Schlieben , Holger Prokisch , René G Feichtinger , Johannes A Mayr , Heiko Brennenstuhl , Julian Schröter , Agnes Pechlaner , Fowzan S Alkuraya , Joshua J Baker , Giulia Barcia , Ivo Baric , Nancy Braverman , Birute Burnyte , John Christodoulou , Elzbieta Ciara , David Coman , Anibh M Das , Niklas Darin , Adela Della Marina , Felix Distelmaier , Erik A Eklund , Melike Ersoy , Weiyan Fang , Pauline Gaignard , Rebecca D Ganetzky , Emmanuel Gonzales , Caoimhe Howard , Joanne Hughes , Vassiliki Konstantopoulou , Melis Kose , Marina Kerr , Aneal Khan , Dominic Lenz , Robert McFarland , Merav Gil Margolis , Kevin Morrison , Thomas Müller , Kei Murayama , Emanuele Nicastro , Alessandra Pennisi , Heidi Peters , Dorota Piekutowska-Abramczuk , Agnès Rötig , René Santer , Fernando Scaglia , Manuel Schiff , Mohmmad Shagrani , Mark Sharrard , Claudia Soler-Alfonso , Christian Staufner , Imogen Storey , Michael Stormon , Robert W Taylor , David R Thorburn , Elisa Leao Teles , Jian-She Wang , Daniel Weghuber , Saskia Wortmann

Network reconstruction for trans acting genetic loci using multi-omics data and prior information.

Genome medicine

Avec: Johann S Hawe , Ashis Saha , Melanie Waldenberger , Sonja Kunze , Simone Wahl , Martina Müller-Nurasyid , Holger Prokisch , Harald Grallert , Christian Herder , Annette Peters , Konstantin Strauch , Fabian J Theis , Christian Gieger , John Chambers , Alexis Battle , Matthias Heinig

Loss-of-function variants in

medRxiv : the preprint server for health sciences

Avec: Patrick R Blackburn , Frédéric Ebstein , Tzung-Chien Hsieh , Marialetizia Motta , Francesca Clementina Radio , Johanna C Herkert , Tuula Rinne , Isabelle Thiffault , Michele Rapp , Mariel Alders , Saskia Maas , Bénédicte Gerard , Thomas Smol , Catherine Vincent-Delorme , Benjamin Cogné , Bertrand Isidor , Marie Vincent , Ruxandra Bachmann-Gagescu , Anita Rauch , Pascal Joset , Giovanni Battista Ferrero , Andrea Ciolfi , Thomas Husson , Anne-Marie Guerrot , Carlos Bacino , Colleen Macmurdo , Stephanie S Thompson , Jill A Rosenfeld , Laurence Faivre , Frederic Tran Mau-Them , Wallid Deb , Virginie Vignard , Pankaj B Agrawal , Jill A Madden , Alice Goldenberg , François Lecoquierre , Michael Zech , Holger Prokisch , Ján Necpál , Robert Jech , Juliane Winkelmann , Monika Turčanová Koprušáková , Vassiliki Konstantopoulou , John R Younce , Marwan Shinawi , Chloe Mighton , Charlotte Fung , Chantal Morel , Jordan Lerner- Ellis , Stephanie DiTroia , Magalie Barth , Dominique Bonneau , Ingrid Krapels , Sander Stegmann , Vyne van der Schoot , Theresa Brunet , Cornelia Bußmann , Cyril Mignot , Thomas Courtin , Claudia Ravelli , Boris Keren , Alban Ziegler , Linda Hasadsri , Pavel N Pichurin , Eric W Klee , Katheryn Grand , Pedro A Sanchez-Lara , Elke Krüger , Stéphane Bézieau , Hannah Klinkhammer , Peter Michael Krawitz , Evan E Eichler , Marco Tartaglia , Sébastien Küry , Tianyun Wang

Direct neuronal reprogramming of NDUFS4 patient cells identifies the unfolded protein response as a novel general reprogramming hurdle.

Neuron

Avec: Giovanna Sonsalla , Ana Belen Malpartida , Therese Riedemann , Mirjana Gusic , Ejona Rusha , Giorgia Bulli , Sonia Najas , Aleks Janjic , Bob A Hersbach , Pawel Smialowski , Micha Drukker , Wolfgang Enard , Jochen H M Prehn , Holger Prokisch , Magdalena Götz , Giacomo Masserdotti

Corrigendum: ncRNAs: New Players in Mitochondrial Health and Disease?

Frontiers in genetics

Avec: Mirjana Gusic , Holger Prokisch

Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.

American journal of human genetics

Avec: Charlotte L Alston , Mike T Veling , Juliana Heidler , Lucie S Taylor , Joseph T Alaimo , Andrew Y Sung , Langping He , Sila Hopton , Alexander Broomfield , Julija Pavaine , Jullianne Diaz , Eyby Leon , Philipp Wolf , Robert McFarland , Holger Prokisch , Saskia B Wortmann , Penelope E Bonnen , Ilka Wittig , David J Pagliarini , Robert W Taylor

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

Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches.

European journal of medical genetics

Avec: Sabine Illsinger , G Christoph Korenke , Sylvia Boesch , Michael Nocker , Daniela Karall , Jean M Nuoffer , Lucia Laugwitz , Johannes A Mayr , Sabine Scholl-Bürgi , Peter Freisinger , Tobias Kowald , Stefan Kölker , Holger Prokisch , Tobias B Haack

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

Human mutation

Avec: Makenzie Saoura , Christopher A Powell , Robert Kopajtich , Ahmad Alahmad , Haya H Al-Balool , Buthaina Albash , Majid Alfadhel , Charlotte L Alston , Enrico Bertini , Penelope E Bonnen , Drago Bratkovic , Rosalba Carrozzo , Maria A Donati , Michela Di Nottia , Daniele Ghezzi , Amy Goldstein , Eric Haan , Rita Horvath , Joanne Hughes , Federica Invernizzi , Eleonora Lamantea , Benjamin Lucas , Kyla-Gaye Pinnock , Maria Pujantell , Shamima Rahman , Pedro Rebelo-Guiomar , Saikat Santra , Daniela Verrigni , Robert McFarland , Holger Prokisch , Robert W Taylor , Louis Levinger , Michal Minczuk

Genetic basis of mitochondrial diseases.

FEBS letters

Avec: Mirjana Gusic , Holger Prokisch

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

Mitochondrion

Avec: Manting Xu , Robert Kopajtich , Matthias Elstner , Hua Li , Zhimei Liu , Junling Wang , Holger Prokisch , Fang Fang

Associations of carotid intima media thickness with gene expression in whole blood and genetically predicted gene expression across 48 tissues.

Human molecular genetics

Avec: Andy B Castaneda , Lauren E Petty , Markus Scholz , Rick Jansen , Stefan Weiss , Xiaoling Zhang , Katharina Schramm , Frank Beutner , Holger Kirsten , Ulf Schminke , Shih-Jen Hwang , Carola Marzi , Klodian Dhana , Adrie Seldenrijk , Knut Krohn , Georg Homuth , Petra Wolf , Marjolein J Peters , Marcus Dörr , Annette Peters , Joyce B J van Meurs , André G Uitterlinden , Maryam Kavousi , Daniel Levy , Christian Herder , Gerard van Grootheest , Melanie Waldenberger , Christa Meisinger , Wolfgang Rathmann , Joachim Thiery , Joseph Polak , Wolfgang Koenig , Jochen Seissler , Joshua C Bis , Nora Franceshini , Claudia Giambartolomei , Auteur inconnu , Albert Hofman , Oscar H Franco , Brenda W J H Penninx , Holger Prokisch , Henry Völzke , Markus Loeffler , Christopher J O'Donnell , Jennifer E Below , Abbas Dehghan , Paul S de Vries

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

American journal of human genetics

Avec: Margot A Cousin , Erin Conboy , Jian-She Wang , Dominic Lenz , Tanya L Schwab , Monique Williams , Roshini S Abraham , Sarah Barnett , Mounif El-Youssef , Rondell P Graham , Luz Helena Gutierrez Sanchez , Linda Hasadsri , Georg F Hoffmann , Nathan C Hull , Robert Kopajtich , Reka Kovacs-Nagy , Jia-Qi Li , Daniela Marx-Berger , Valérie McLin , Mark A McNiven , Taofic Mounajjed , Holger Prokisch , Daisy Rymen , Ryan J Schulze , Christian Staufner , Ye Yang , Karl J Clark , Brendan C Lanpher , Eric W Klee

Monogenic variants in dystonia: an exome-wide sequencing study.

The Lancet. Neurology

Avec: Michael Zech , Robert Jech , Sylvia Boesch , Matej Škorvánek , Sandrina Weber , Matias Wagner , Chen Zhao , Angela Jochim , Ján Necpál , Yasemin Dincer , Katharina Vill , Felix Distelmaier , Malgorzata Stoklosa , Martin Krenn , Stephan Grunwald , Tobias Bock-Bierbaum , Anna Fečíková , Petra Havránková , Jan Roth , Iva Příhodová , Miriam Adamovičová , Olga Ulmanová , Karel Bechyně , Pavlína Danhofer , Branislav Veselý , Vladimír Haň , Petra Pavelekova , Zuzana Gdovinová , Tobias Mantel , Tobias Meindl , Alexandra Sitzberger , Sebastian Schröder , Astrid Blaschek , Timo Roser , Michaela V Bonfert , Edda Haberlandt , Barbara Plecko , Birgit Leineweber , Steffen Berweck , Thomas Herberhold , Berthold Langguth , Jana Švantnerová , Michal Minár , Gonzalo Alonso Ramos-Rivera , Monica H Wojcik , Sander Pajusalu , Katrin Õunap , Ulrich A Schatz , Laura Pölsler , Ivan Milenkovic , Franco Laccone , Veronika Pilshofer , Roberto Colombo , Steffi Patzer , Arcangela Iuso , Julia Vera , Monica Troncoso , Fang Fang , Holger Prokisch , Friederike Wilbert , Matthias Eckenweiler , Elisabeth Graf , Dominik S Westphal , Korbinian M Riedhammer , Theresa Brunet , Bader Alhaddad , Riccardo Berutti , Tim M Strom , Martin Hecht , Matthias Baumann , Marc Wolf , Aida Telegrafi , Richard E Person , Francisca Millan Zamora , Lindsay B Henderson , David Weise , Thomas Musacchio , Jens Volkmann , Anna Szuto , Jessica Becker , Kirsten Cremer , Thomas Sycha , Fritz Zimprich , Verena Kraus , Christine Makowski , Pedro Gonzalez-Alegre , Tanya M Bardakjian , Laurie J Ozelius , Annalisa Vetro , Renzo Guerrini , Esther Maier , Ingo Borggraefe , Alice Kuster , Saskia B Wortmann , Annette Hackenberg , Robert Steinfeld , Birgit Assmann , Christian Staufner , Thomas Opladen , Evžen Růžička , Ronald D Cohn , David Dyment , Wendy K Chung , Hartmut Engels , Andres Ceballos-Baumann , Rafal Ploski , Oliver Daumke , Bernhard Haslinger , Volker Mall , Konrad Oexle , Juliane Winkelmann

ATP synthase deficiency due to m.8528T>C mutation - a novel cause of severe neonatal hyperammonemia requiring hemodialysis.

Journal of pediatric endocrinology & metabolism : JPEM

Avec: Tamara Žigman , Katarina Šikić , Danijela Petković Ramadža , Johannes Mayr , Saskia Wortmann , Holger Prokisch , Dorotea Ninković , Daniel Dilber , Dalibor Šarić , Filip Rubić , Slobodan Galić , Jasna Slaviček , Dražen Belina , Ksenija Fumić , Ivo Barić

Detection of aberrant gene expression events in RNA sequencing data.

Nature protocols

Avec: Vicente A Yépez , Christian Mertes , Michaela F Müller , Daniela Klaproth-Andrade , Leonhard Wachutka , Laure Frésard , Mirjana Gusic , Ines F Scheller , Patricia F Goldberg , Holger Prokisch , Julien Gagneur

X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in

International journal of molecular sciences

Avec: Friederike Kortüm , Sinja Kieninger , Pascale Mazzola , Susanne Kohl , Bernd Wissinger , Holger Prokisch , Katarina Stingl , Nicole Weisschuh

RNA sequencing role and application in clinical diagnostic.

Pediatric investigation

Avec: Fatemeh Peymani , Aiman Farzeen , Holger Prokisch

A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse.

Mammalian genome : official journal of the International Mammalian Genome Society

Avec: Caroline A Biagosch , Silvia Vidali , Michael Faerberboeck , Svenja-Viola Hensler , Lore Becker , Oana V Amarie , Antonio Aguilar-Pimentel , Lillian Garrett , Tanja Klein-Rodewald , Birgit Rathkolb , Enrica Zanuttigh , Julia Calzada-Wack , Patricia da Silva-Buttkus , Jan Rozman , Irina Treise , Helmut Fuchs , Valerie Gailus-Durner , Martin Hrabě de Angelis , Dirk Janik , Wolfgang Wurst , Johannes A Mayr , Thomas Klopstock , Thomas Meitinger , Holger Prokisch , Arcangela Iuso

Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI study.

European journal of public health

Avec: Veronika Sanin , Raphael Schmieder , Sara Ates , Lea Dewi Schlieben , Jens Wiehler , Ruoyu Sun , Manuela Decker , Michaela Sander , Stefan Holdenrieder , Florian Kohlmayer , Anna Friedmann , Volker Mall , Therese Feiler , Arne Dreßler , Tim M Strom , Holger Prokisch , Thomas Meitinger , Moritz von Scheidt , Wolfgang Koenig , Georg Leipold , Heribert Schunkert , Auteur inconnu

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.

American journal of human genetics

Avec: Rauan Kaiyrzhanov , Sami E M Mohammed , Reza Maroofian , Ralf A Husain , Alessia Catania , Alessandra Torraco , Ahmad Alahmad , Marina Dutra-Clarke , Sabine Grønborg , Annapurna Sudarsanam , Julie Vogt , Filippo Arrigoni , Julia Baptista , Shahzad Haider , René G Feichtinger , Paolo Bernardi , Alessandra Zulian , Mirjana Gusic , Stephanie Efthymiou , Renkui Bai , Farah Bibi , Alejandro Horga , Julian A Martinez-Agosto , Amanda Lam , Andreea Manole , Diego-Perez Rodriguez , Romina Durigon , Angela Pyle , Buthaina Albash , Carlo Dionisi-Vici , David Murphy , Diego Martinelli , Enrico Bugiardini , Katrina Allis , Costanza Lamperti , Siegfried Reipert , Lotte Risom , Lucia Laugwitz , Michela Di Nottia , Robert McFarland , Laura Vilarinho , Michael Hanna , Holger Prokisch , Johannes A Mayr , Enrico Silvio Bertini , Daniele Ghezzi , Elsebet Østergaard , Saskia B Wortmann , Rosalba Carrozzo , Tobias B Haack , Robert W Taylor , Antonella Spinazzola , Karin Nowikovsky , Henry Houlden

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

American journal of human genetics

Avec: Melanie Brugger , Antonella Lauri , Yan Zhen , Laura L Gramegna , Benedikt Zott , Nikolina Sekulić , Giulia Fasano , Robert Kopajtich , Viviana Cordeddu , Francesca Clementina Radio , Cecilia Mancini , Simone Pizzi , Graziamaria Paradisi , Ginevra Zanni , Gessica Vasco , Rosalba Carrozzo , Flavia Palombo , Caterina Tonon , Raffaele Lodi , Chiara La Morgia , Maria Arelin , Cristiane Blechschmidt , Tom Finck , Vigdis Sørensen , Kornelia Kreiser , Gertrud Strobl-Wildemann , Hagit Daum , Rachel Michaelson-Cohen , Lucia Ziccardi , Giuseppe Zampino , Holger Prokisch , Rami Abou Jamra , Claudio Fiorini , Thomas Arzberger , Juliane Winkelmann , Leonardo Caporali , Valerio Carelli , Harald Stenmark , Marco Tartaglia , Matias Wagner

Multi-omics in MECP2 duplication syndrome patients and carriers.

The European journal of neuroscience

Avec: Ainhoa Pascual-Alonso , Clara Xiol , Dmitrii Smirnov , Rober Kopajtich , Holger Prokisch , Judith Armstrong

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

Molecular genetics and metabolism

Avec: Amelie T van der Ven , Alfredo Cabrera-Orefice , Isabell Wente , René G Feichtinger , Konstantinos Tsiakas , Deike Weiss , Tatjana Bierhals , Leila Scholle , Holger Prokisch , Robert Kopajtich , René Santer , Johannes A Mayr , Maja Hempel , Ilka Wittig

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

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

Avec: Elena Poggio , Lucia Barazzuol , Andrea Salmaso , Celeste Milani , Adamantia Deligiannopoulou , Ángeles García Cazorla , Se Song Jang , Natalia Juliá-Palacios , Boris Keren , Robert Kopajtich , Sally Ann Lynch , Cyril Mignot , Catherine Moorwood , Christiane Neuhofer , Vincenzo Nigro , Anna Oostra , Holger Prokisch , Virginie Saillour , Nika Schuermans , Annalaura Torella , Patrick Verloo , Elise Yazbeck , Marcella Zollino , Robert Jech , Juliane Winkelmann , Jan Necpal , Tito Calì , Marisa Brini , Michael Zech

Evaluation of Mitochondrial Dysfunction and Idebenone Responsiveness in Fibroblasts from Leber's Hereditary Optic Neuropathy (LHON) Subjects.

International journal of molecular sciences

Avec: Mirko Baglivo , Alessia Nasca , Eleonora Lamantea , Stefano Vinci , Manuela Spagnolo , Silvia Marchet , Holger Prokisch , Alessia Catania , Costanza Lamperti , Daniele Ghezzi

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

Journal of inherited metabolic disease

Avec: Sarah L Stenton , Laura S Kremer , Robert Kopajtich , Christina Ludwig , Holger Prokisch

The metabolic network coherence of human transcriptomes is associated with genetic variation at the cadherin 18 locus.

Human genetics

Avec: Kristina Schlicht , Piotr Nyczka , Amke Caliebe , Sandra Freitag-Wolf , Annique Claringbould , Lude Franke , Urmo Võsa , Auteur inconnu , Sharon L R Kardia , Jennifer A Smith , Wei Zhao , Christian Gieger , Annette Peters , Holger Prokisch , Konstantin Strauch , Auteur inconnu , Hansjörg Baurecht , Stephan Weidinger , Philip Rosenstiel , Marc-Thorsten Hütt , Carolin Knecht , Silke Szymczak , Michael Krawczak

Quantification and discovery of sequence determinants of protein-per-mRNA amount in 29 human tissues.

Molecular systems biology

Avec: Basak Eraslan , Dongxue Wang , Mirjana Gusic , Holger Prokisch , Björn M Hallström , Mathias Uhlén , Anna Asplund , Frederik Pontén , Thomas Wieland , Thomas Hopf , Hannes Hahne , Bernhard Kuster , Julien Gagneur

Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.

EBioMedicine

Avec: Jing Tan , Matias Wagner , Sarah L Stenton , Tim M Strom , Saskia B Wortmann , Holger Prokisch , Thomas Meitinger , Konrad Oexle , Thomas Klopstock

Mitochondrial Regulation of the 26S Proteasome.

Cell reports

Avec: Thomas Meul , Korbinian Berschneider , Sabine Schmitt , Christoph H Mayr , Laura F Mattner , Herbert B Schiller , Ayse S Yazgili , Xinyuan Wang , Christina Lukas , Camille Schlesser , Cornelia Prehn , Jerzy Adamski , Elisabeth Graf , Thomas Schwarzmayr , Fabiana Perocchi , Alexandra Kukat , Aleksandra Trifunovic , Laura Kremer , Holger Prokisch , Bastian Popper , Christine von Toerne , Stefanie M Hauck , Hans Zischka , Silke Meiners

GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child, and adult BMI.

Science advances

Avec: Alexessander Couto Alves , N Maneka G De Silva , Ville Karhunen , Ulla Sovio , Shikta Das , H Rob Taal , Nicole M Warrington , Alexandra M Lewin , Marika Kaakinen , Diana L Cousminer , Elisabeth Thiering , Nicholas J Timpson , Tom A Bond , Estelle Lowry , Christopher D Brown , Xavier Estivill , Virpi Lindi , Jonathan P Bradfield , Frank Geller , Doug Speed , Lachlan J M Coin , Marie Loh , Sheila J Barton , Lawrence J Beilin , Hans Bisgaard , Klaus Bønnelykke , Rohia Alili , Ida J Hatoum , Katharina Schramm , Rufus Cartwright , Marie-Aline Charles , Vincenzo Salerno , Karine Clément , Annique A J Claringbould , Auteur inconnu , Cornelia M van Duijn , Elena Moltchanova , Johan G Eriksson , Cathy Elks , Bjarke Feenstra , Claudia Flexeder , Stephen Franks , Timothy M Frayling , Rachel M Freathy , Paul Elliott , Elisabeth Widén , Hakon Hakonarson , Andrew T Hattersley , Alina Rodriguez , Marco Banterle , Joachim Heinrich , Barbara Heude , John W Holloway , Albert Hofman , Elina Hyppönen , Hazel Inskip , Lee M Kaplan , Asa K Hedman , Esa Läärä , Holger Prokisch , Harald Grallert , Timo A Lakka , Debbie A Lawlor , Mads Melbye , Tarunveer S Ahluwalia , Marcella Marinelli , Iona Y Millwood , Lyle J Palmer , Craig E Pennell , John R Perry , Susan M Ring , Markku J Savolainen , Fernando Rivadeneira , Marie Standl , Jordi Sunyer , Carla M T Tiesler , Andre G Uitterlinden , William Schierding , Justin M O'Sullivan , Inga Prokopenko , Karl-Heinz Herzig , George Davey Smith , Paul O'Reilly , Janine F Felix , Jessica L Buxton , Alexandra I F Blakemore , Ken K Ong , Vincent W V Jaddoe , Struan F A Grant , Sylvain Sebert , Mark I McCarthy , Marjo-Riitta Järvelin , Auteur inconnu

Mitochondrial Disorders.

Deutsches Arzteblatt international

Avec: Thomas Klopstock , Claudia Priglinger , Ali Yilmaz , Cornelia Kornblum , Felix Distelmaier , Holger Prokisch

Multi-Omics Approach to Mitochondrial DNA Damage in Human Muscle Fibers.

International journal of molecular sciences

Avec: Matthias Elstner , Konrad Olszewski , Holger Prokisch , Thomas Klopstock , Marta Murgia

Epigenome-wide association study of whole blood gene expression in Framingham Heart Study participants provides molecular insight into the potential role of CHRNA5 in cigarette smoking-related lung diseases.

Clinical epigenetics

Avec: Chen Yao , Roby Joehanes , Rory Wilson , Toshiko Tanaka , Luigi Ferrucci , Anja Kretschmer , Holger Prokisch , Katharina Schramm , Christian Gieger , Annette Peters , Melanie Waldenberger , Carola Marzi , Christian Herder , Daniel Levy

Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS.

International journal of molecular sciences

Avec: Frederik Braun , Andreas Hentschel , Albert Sickmann , Theodore Marteau , Swantje Hertel , Fabian Förster , Holger Prokisch , Matias Wagner , Saskia Wortmann , Adela Della Marina , Heike Kölbel , Andreas Roos , Ulrike Schara-Schmidt

How Machine Learning and Statistical Models Advance Molecular Diagnostics of Rare Disorders Via Analysis of RNA Sequencing Data.

Frontiers in molecular biosciences

Avec: Lea D Schlieben , Holger Prokisch , Vicente A Yépez

Biallelic

Frontiers in genetics

Avec: Rui Ban , Zhimei Liu , Masaru Shimura , Xiao Tong , Junling Wang , Lei Yang , Manting Xu , Jing Xiao , Kei Murayama , Matthias Elstner , Holger Prokisch , Fang Fang

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

Human mutation

Avec: Marcello Scala , Saskia B Wortmann , Namik Kaya , Menno D Stellingwerff , Angela Pistorio , Emma Glamuzina , Clara D van Karnebeek , Cristina Skrypnyk , Katarzyna Iwanicka-Pronicka , Dorota Piekutowska-Abramczuk , Elżbieta Ciara , Frederic Tort , Beth Sheidley , Annapurna Poduri , Parul Jayakar , Anuj Jayakar , Jariya Upadia , Nicolette Walano , Tobias B Haack , Holger Prokisch , Hesham Aldhalaan , Ehsan G Karimiani , Yilmaz Yildiz , Ahmet C Ceylan , Teresa Santiago-Sim , Amy Dameron , Hui Yang , Mehran B Toosi , Farah Ashrafzadeh , Javad Akhondian , Shima Imannezhad , Hanieh S Mirzadeh , Shazia Maqbool , Aisha Farid , Mohamed A Al-Muhaizea , Meznah O Alshwameen , Lama Aldowsari , Maysoon Alsagob , Ashwaq Alyousef , Rawan AlMass , Aljouhra AlHargan , Ali H Alwadei , Maha M AlRasheed , Dilek Colak , Hanan Alqudairy , Sameena Khan , Matthew A Lines , M Ángeles García Cazorla , Antonia Ribes , Eva Morava , Farah Bibi , Shahzad Haider , Matteo P Ferla , Jenny C Taylor , Hessa S Alsaif , Abdulwahab Firdous , Mais Hashem , Chingiz Shashkin , Kairgali Koneev , Rauan Kaiyrzhanov , Stephanie Efthymiou , Queen Square Genomics , Thomas Schmitt-Mechelke , Andreas Ziegler , Mahmoud Y Issa , Hasnaa M Elbendary , Pasquale Striano , Fowzan S Alkuraya , Maha S Zaki , Joseph G Gleeson , Tahsin Stefan Barakat , Jorgen Bierau , Marjo S van der Knaap , Reza Maroofian , Henry Houlden

Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function.

Nature genetics

Avec: Johann S Hawe , Rory Wilson , Katharina T Schmid , Li Zhou , Lakshmi Narayanan Lakshmanan , Benjamin C Lehne , Brigitte Kühnel , William R Scott , Matthias Wielscher , Yik Weng Yew , Clemens Baumbach , Dominic P Lee , Eirini Marouli , Manon Bernard , Liliane Pfeiffer , Pamela R Matías-García , Matias I Autio , Stephane Bourgeois , Christian Herder , Ville Karhunen , Thomas Meitinger , Holger Prokisch , Wolfgang Rathmann , Michael Roden , Sylvain Sebert , Jean Shin , Konstantin Strauch , Weihua Zhang , Wilson L W Tan , Stefanie M Hauck , Juliane Merl-Pham , Harald Grallert , Eudes G V Barbosa , Auteur inconnu , Thomas Illig , Annette Peters , Tomas Paus , Zdenka Pausova , Panos Deloukas , Roger S Y Foo , Marjo-Riitta Jarvelin , Jaspal S Kooner , Marie Loh , Matthias Heinig , Christian Gieger , Melanie Waldenberger , John C Chambers

Clinical implementation of RNA sequencing for Mendelian disease diagnostics.

Genome medicine

Avec: Vicente A Yépez , Mirjana Gusic , Robert Kopajtich , Christian Mertes , Nicholas H Smith , Charlotte L Alston , Rui Ban , Skadi Beblo , Riccardo Berutti , Holger Blessing , Elżbieta Ciara , Felix Distelmaier , Peter Freisinger , Johannes Häberle , Susan J Hayflick , Maja Hempel , Yulia S Itkis , Yoshihito Kishita , Thomas Klopstock , Tatiana D Krylova , Costanza Lamperti , Dominic Lenz , Christine Makowski , Signe Mosegaard , Michaela F Müller , Gerard Muñoz-Pujol , Agnieszka Nadel , Akira Ohtake , Yasushi Okazaki , Elena Procopio , Thomas Schwarzmayr , Joél Smet , Christian Staufner , Sarah L Stenton , Tim M Strom , Caterina Terrile , Frederic Tort , Rudy Van Coster , Arnaud Vanlander , Matias Wagner , Manting Xu , Fang Fang , Daniele Ghezzi , Johannes A Mayr , Dorota Piekutowska-Abramczuk , Antonia Ribes , Agnès Rötig , Robert W Taylor , Saskia B Wortmann , Kei Murayama , Thomas Meitinger , Julien Gagneur , Holger Prokisch

Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX with Its Interacting Nucleoid Proteins, and of mtDNA.

Cells

Avec: Jana Key , Sylvia Torres-Odio , Nina C Bach , Suzana Gispert , Gabriele Koepf , Marina Reichlmeir , A Phillip West , Holger Prokisch , Peter Freisinger , William G Newman , Stavit Shalev , Stephan A Sieber , Ilka Wittig , Georg Auburger

Aberrant splicing prediction across human tissues.

Nature genetics

Avec: Nils Wagner , Muhammed H Çelik , Florian R Hölzlwimmer , Christian Mertes , Holger Prokisch , Vicente A Yépez , Julien Gagneur

Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.

Molecular genetics and metabolism

Avec: Nicole Hammann , Dominic Lenz , Ivo Baric , Ellen Crushell , Carlo Dionisi Vici , Felix Distelmaier , Francois Feillet , Peter Freisinger , Maja Hempel , Anna L Khoreva , Martin W Laass , Yves Lacassie , Elke Lainka , Catherine Larson-Nath , Zhongdie Li , Patryk Lipiński , Eberhard Lurz , André Mégarbané , Susana Nobre , Giorgia Olivieri , Bianca Peters , Paolo Prontera , Lea D Schlieben , Christine M Seroogy , Cristina Sobacchi , Shigeru Suzuki , Christel Tran , Jerry Vockley , Jian-She Wang , Matias Wagner , Holger Prokisch , Sven F Garbade , Stefan Kölker , Georg F Hoffmann , Christian Staufner

New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center.

International journal of neonatal screening

Avec: Gwendolyn Gramer , Saskia B Wortmann , Junmin Fang-Hoffmann , Dirk Kohlmüller , Jürgen G Okun , Holger Prokisch , Thomas Meitinger , Georg F Hoffmann

Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency.

International journal of molecular sciences

Avec: Gerard Muñoz-Pujol , Socorro Alforja-Castiella , Ricardo Casaroli-Marano , Blai Morales-Romero , Judit García-Villoria , Vicente A Yépez , Julien Gagneur , Mirjana Gusic , Holger Prokisch , Frederic Tort , Antonia Ribes

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

Genetics of mitochondrial diseases: Current approaches for the molecular diagnosis.

Handbook of clinical neurology

Avec: Lea D Schlieben , Holger Prokisch

Integrative omics approaches to advance rare disease diagnostics.

Journal of inherited metabolic disease

Avec: Dmitrii Smirnov , Nikita Konstantinovskiy , Holger Prokisch

Digenic Inheritance in Rare Disorders and Mitochondrial Disease-Crossing the Frontier to a More Comprehensive Understanding of Etiology.

International journal of molecular sciences

Avec: Christiane M Neuhofer , Holger Prokisch

Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing.

Molecular genetics and metabolism

Avec: Blai Morales-Romero , Gerard Muñoz-Pujol , Rafael Artuch , Angels García-Cazorla , Mar O'Callaghan , Jolanta Sykut-Cegielska , Jaume Campistol , Pedro Juan Moreno-Lozano , Machteld M Oud , Ron A Wevers , Dirk J Lefeber , Anna Esteve-Codina , Vicente A Yepez , Julien Gagneur , Saskia B Wortmann , Holger Prokisch , Antonia Ribes , Judit García-Villoria , Frederic Tort

Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.

Annals of neurology

Avec: Patrick R Blackburn , Frédéric Ebstein , Tzung-Chien Hsieh , Marialetizia Motta , Francesca Clementina Radio , Johanna C Herkert , Tuula Rinne , Isabelle Thiffault , Michele Rapp , Mariel Alders , Saskia Maas , Bénédicte Gerard , Thomas Smol , Catherine Vincent-Delorme , Benjamin Cogné , Bertrand Isidor , Marie Vincent , Ruxandra Bachmann-Gagescu , Anita Rauch , Pascal Joset , Giovanni Battista Ferrero , Andrea Ciolfi , Thomas Husson , Anne-Marie Guerrot , Carlos Bacino , Colleen Macmurdo , Stephanie S Thompson , Jill A Rosenfeld , Laurence Faivre , Frederic Tran Mau-Them , Wallid Deb , Virginie Vignard , Pankaj B Agrawal , Jill A Madden , Alice Goldenberg , François Lecoquierre , Michael Zech , Holger Prokisch , Ján Necpál , Robert Jech , Juliane Winkelmann , Monika Turčanová Koprušáková , Vassiliki Konstantopoulou , John R Younce , Marwan Shinawi , Chloe Mighton , Charlotte Fung , Chantal F Morel , Jordan Lerner-Ellis , Stephanie DiTroia , Magalie Barth , Dominique Bonneau , Ingrid Krapels , Alexander P A Stegmann , Vyne van der Schoot , Theresa Brunet , Cornelia Bußmann , Cyril Mignot , Giuseppe Zampino , Saskia B Wortmann , Johannes A Mayr , René G Feichtinger , Thomas Courtin , Claudia Ravelli , Boris Keren , Alban Ziegler , Linda Hasadsri , Pavel N Pichurin , Eric W Klee , Katheryn Grand , Pedro A Sanchez-Lara , Elke Krüger , Stéphane Bézieau , Hannah Klinkhammer , Peter Michael Krawitz , Evan E Eichler , Marco Tartaglia , Sébastien Küry , Tianyun Wang

Blood DNA methylation sites predict death risk in a longitudinal study of 12, 300 individuals.

Aging

Avec: Elena Colicino , Riccardo Marioni , Cavin Ward-Caviness , Rahul Gondalia , Weihua Guan , Brian Chen , Pei-Chien Tsai , Tianxiao Huan , Gao Xu , Agha Golareh , Joel Schwartz , Pantel Vokonas , Allan Just , John M Starr , Allan F McRae , Naomi R Wray , Peter M Visscher , Jan Bressler , Wen Zhang , Toshiko Tanaka , Ann Zenobia Moore , Luke C Pilling , Guosheng Zhang , James D Stewart , Yun Li , Lifang Hou , Juan Castillo-Fernandez , Tim Spector , Douglas P Kiel , Joanne M Murabito , Chunyu Liu , Mike Mendelson , Tim Assimes , Devin Absher , Phil S Tsaho , Ake T Lu , Luigi Ferrucci , Rory Wilson , Melanie Waldenberger , Holger Prokisch , Stefania Bandinelli , Jordana T Bell , Daniel Levy , Ian J Deary , Steve Horvath , Jim Pankow , Annette Peters , Eric A Whitsel , Andrea Baccarelli

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

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

Avec: Dominic Lenz , Desirée E C Smith , Ellen Crushell , Ralf A Husain , Gajja S Salomons , Bader Alhaddad , Jonathan A Bernstein , Alyssa Bianzano , Saskia Biskup , Heiko Brennenstuhl , Dominique Caldari , Nicola Dikow , Tobias B Haack , Andrea Hanson-Kahn , Inga Harting , Denise Horn , Joanne Hughes , Maya Huijberts , Bertrand Isidor , Simone Kathemann , Robert Kopajtich , Urania Kotzaeridou , Sébastien Küry , Elke Lainka , Lucia Laugwitz , James R Lupski , Jennifer E Posey , Claire Reynolds , Jill A Rosenfeld , Julian Schröter , Fleur Vansenne , Matias Wagner , Claudia Weiß , Bruce H R Wolffenbuttel , Saskia B Wortmann , Stefan Kölker , Georg F Hoffmann , Holger Prokisch , Marisa I Mendes , Christian Staufner

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

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

Avec: Christian Staufner , Bianca Peters , Matias Wagner , Seham Alameer , Ivo Barić , Pierre Broué , Derya Bulut , Joseph A Church , Ellen Crushell , Buket Dalgıç , Anibh M Das , Anke Dick , Nicola Dikow , Carlo Dionisi-Vici , Felix Distelmaier , Neslihan Ekşi Bozbulut , François Feillet , Emmanuel Gonzales , Nedim Hadzic , Fabian Hauck , Robert Hegarty , Maja Hempel , Theresia Herget , Christoph Klein , Vassiliki Konstantopoulou , Robert Kopajtich , Alice Kuster , Martin W Laass , Elke Lainka , Catherine Larson-Nath , Alexander Leibner , Eberhard Lurz , Johannes A Mayr , Patrick McKiernan , Karine Mention , Ute Moog , Neslihan Onenli Mungan , Korbinian M Riedhammer , René Santer , Irene Valenzuela Palafoll , Jerry Vockley , Dominik S Westphal , Arnaud Wiedemann , Saskia B Wortmann , Gaurav D Diwan , Robert B Russell , Holger Prokisch , Sven F Garbade , Stefan Kölker , Georg F Hoffmann , Dominic Lenz

Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls.

Orphanet journal of rare diseases

Avec: Alessia Catania , Arcangela Iuso , Juliette Bouchereau , Laura S Kremer , Marina Paviolo , Caterina Terrile , Paule Bénit , Allan G Rasmusson , Thomas Schwarzmayr , Valeria Tiranti , Pierre Rustin , Malgorzata Rak , Holger Prokisch , Manuel Schiff

Mitochondrial DNA mutation analysis from exome sequencing-A more holistic approach in diagnostics of suspected mitochondrial disease.

Journal of inherited metabolic disease

Avec: Matias Wagner , Riccardo Berutti , Bettina Lorenz-Depiereux , Elisabeth Graf , Gertrud Eckstein , Johannes A Mayr , Thomas Meitinger , Uwe Ahting , Holger Prokisch , Tim M Strom , Saskia B Wortmann

Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.

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

Avec: René G Feichtinger , Bettina E Mucha , Holger Hengel , Zakaria Orfi , Christine Makowski , Junio Dort , Guy D'Anjou , Thi Tuyet Mai Nguyen , Rebecca Buchert , Hendrik Juenger , Peter Freisinger , Sarah Baumeister , Benedikt Schoser , Uwe Ahting , Reinhard Keimer , Cam-Tu Emilie Nguyen , Paul Fabre , Julie Gauthier , Marguerite Miguet , Fátima Lopes , Afnan AlHakeem , Amal AlHashem , Brahim Tabarki , Krishna Kumar Kandaswamy , Peter Bauer , Peter Steinbacher , Holger Prokisch , Marc Sturm , Tim M Strom , Benjamin Ellezam , Johannes A Mayr , Ludger Schöls , Jacques L Michaud , Philippe M Campeau , Tobias B Haack , Nicolas A Dumont

NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.

Brain : a journal of neurology

Avec: Nicole J Van Bergen , Yiran Guo , Julia Rankin , Nicole Paczia , Julia Becker-Kettern , Laura S Kremer , Angela Pyle , Jean-François Conrotte , Carolyn Ellaway , Peter Procopis , Kristina Prelog , Tessa Homfray , Júlia Baptista , Emma Baple , Matthew Wakeling , Sean Massey , Daniel P Kay , Anju Shukla , Katta M Girisha , Leslie E S Lewis , Saikat Santra , Rachel Power , Piers Daubeney , Julio Montoya , Eduardo Ruiz-Pesini , Reka Kovacs-Nagy , Martin Pritsch , Uwe Ahting , David R Thorburn , Holger Prokisch , Robert W Taylor , John Christodoulou , Carole L Linster , Sian Ellard , Hakon Hakonarson

Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency.

Journal of inherited metabolic disease

Avec: Huafang Jiang , Ahmad Alahmad , Song Fu , Xiaoling Fu , Zhimei Liu , Xiaodi Han , Lanlan Li , Tianyu Song , Manting Xu , Shanshan Liu , Junling Wang , Buthaina Albash , Ahmad Alaqeel , Vasilescu Catalina , Holger Prokisch , Robert W Taylor , Robert McFarland , Fang Fang

Meta-analyses identify DNA methylation associated with kidney function and damage.

Nature communications

Avec: Pascal Schlosser , Adrienne Tin , Pamela R Matias-Garcia , Chris H L Thio , Roby Joehanes , Hongbo Liu , Antoine Weihs , Zhi Yu , Anselm Hoppmann , Franziska Grundner-Culemann , Josine L Min , Adebowale A Adeyemo , Charles Agyemang , Johan Ärnlöv , Nasir A Aziz , Andrea Baccarelli , Murielle Bochud , Hermann Brenner , Monique M B Breteler , Cristian Carmeli , Layal Chaker , John C Chambers , Shelley A Cole , Josef Coresh , Tanguy Corre , Adolfo Correa , Simon R Cox , Niek de Klein , Graciela E Delgado , Arce Domingo-Relloso , Kai-Uwe Eckardt , Arif B Ekici , Karlhans Endlich , Kathryn L Evans , James S Floyd , Myriam Fornage , Lude Franke , Eliza Fraszczyk , Xu Gao , Xīn Gào , Mohsen Ghanbari , Sahar Ghasemi , Christian Gieger , Philip Greenland , Megan L Grove , Sarah E Harris , Gibran Hemani , Peter Henneman , Christian Herder , Steve Horvath , Lifang Hou , Mikko A Hurme , Shih-Jen Hwang , Marjo-Riitta Jarvelin , Sharon L R Kardia , Silva Kasela , Marcus E Kleber , Wolfgang Koenig , Jaspal S Kooner , Holly Kramer , Florian Kronenberg , Brigitte Kühnel , Terho Lehtimäki , Lars Lind , Dan Liu , Yongmei Liu , Donald M Lloyd-Jones , Kurt Lohman , Stefan Lorkowski , Ake T Lu , Riccardo E Marioni , Winfried März , Daniel L McCartney , Karlijn A C Meeks , Lili Milani , Pashupati P Mishra , Matthias Nauck , Ana Navas-Acien , Christoph Nowak , Annette Peters , Holger Prokisch , Bruce M Psaty , Olli T Raitakari , Scott M Ratliff , Alex P Reiner , Sylvia E Rosas , Ben Schöttker , Joel Schwartz , Sanaz Sedaghat , Jennifer A Smith , Nona Sotoodehnia , Hannah R Stocker , Silvia Stringhini , Johan Sundström , Brenton R Swenson , Maria Tellez-Plaza , Joyce B J van Meurs , Jana V van Vliet-Ostaptchouk , Andrea Venema , Niek Verweij , Rosie M Walker , Matthias Wielscher , Juliane Winkelmann , Bruce H R Wolffenbuttel , Wei Zhao , Yinan Zheng , Auteur inconnu , Auteur inconnu , Marie Loh , Harold Snieder , Daniel Levy , Melanie Waldenberger , Katalin Susztak , Anna Köttgen , Alexander Teumer

ncRNAs: New Players in Mitochondrial Health and Disease?

Frontiers in genetics

Avec: Mirjana Gusic , Holger Prokisch

Case Report: Rapid Treatment of Uridine-Responsive Epileptic Encephalopathy Caused by CAD Deficiency.

Frontiers in pharmacology

Avec: Ling Zhou , Jie Deng , Sarah L Stenton , Ji Zhou , Hua Li , Chunhong Chen , Holger Prokisch , Fang Fang

Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation.

Human mutation

Avec: Alessandra Torraco , Alessia Nasca , Daniela Verrigni , Alessandra Pennisi , Maha S Zaki , Giorgia Olivieri , Zahra Assouline , Diego Martinelli , Reza Maroofian , Teresa Rizza , Michela Di Nottia , Federica Invernizzi , Eleonora Lamantea , Daniela Longo , Henry Houlden , Holger Prokisch , Agnès Rötig , Carlo Dionisi-Vici , Enrico Bertini , Daniele Ghezzi , Rosalba Carrozzo , Daria Diodato

The Dimensions of Primary Mitochondrial Disorders.

Frontiers in cell and developmental biology

Avec: Lea D Schlieben , Holger Prokisch

A novel cryptic splice site mutation in

Bone reports

Avec: Ahmed El-Gazzar , Johannes A Mayr , Barbara Voraberger , Karin Brugger , Stéphane Blouin , Katharina Tischlinger , Hans-Christoph Duba , Holger Prokisch , Nadja Fratzl-Zelman , Wolfgang Högler

Protonation-Dependent Sequencing of 5-Formylcytidine in RNA.

Biochemistry

Avec: Courtney N Link , Supuni Thalalla Gamage , Diamond Gallimore , Robert Kopajtich , Christine Evans , Samantha Nance , Stephen D Fox , Thorkell Andresson , Raj Chari , Joseph Ivanic , Holger Prokisch , Jordan L Meier

DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.

Brain : a journal of neurology

Avec: Sarah L Stenton , Marketa Tesarova , Natalia L Sheremet , Claudia B Catarino , Valerio Carelli , Elżbieta Ciara , Kathryn Curry , Martin Engvall , Leah R Fleming , Peter Freisinger , Katarzyna Iwanicka-Pronicka , Elżbieta Jurkiewicz , Thomas Klopstock , Mary K Koenig , Hana Kolářová , Bohdan Kousal , Tatiana Krylova , Chiara La Morgia , Lenka Nosková , Dorota Piekutowska-Abramczuk , Sam N Russo , Viktor Stránecký , Iveta Tóthová , Frank Träisk , Holger Prokisch

Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital.

Annals of neurology

Avec: Sarah L Stenton , Ying Zou , Hua Cheng , Zhimei Liu , Junling Wang , Danmin Shen , Hong Jin , Changhong Ding , Xiaolu Tang , Suzhen Sun , Hong Han , Yanli Ma , Weihua Zhang , Ruifeng Jin , Hua Wang , Dan Sun , Jun Lan Lv , Holger Prokisch , Fang Fang

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

Human genomics

Avec: Ainhoa Pascual-Alonso , Clara Xiol , Dmitrii Smirnov , Robert Kopajtich , Holger Prokisch , Judith Armstrong

Genetic landscape of pediatric acute liver failure of indeterminate origin.

Hepatology (Baltimore, Md.)

Avec: Dominic Lenz , Lea D Schlieben , Masaru Shimura , Alyssa Bianzano , Dmitrii Smirnov , Robert Kopajtich , Riccardo Berutti , Rüdiger Adam , Denise Aldrian , Ivo Baric , Ulrich Baumann , Neslihan Eksi Bozbulut , Melanie Brugger , Theresa Brunet , Philip Bufler , Birutė Burnytė , Pier Luigi Calvo , Ellen Crushell , Buket Dalgıç , Anibh M Das , Antal Dezsőfi , Felix Distelmaier , Alexander Fichtner , Peter Freisinger , Sven F Garbade , Harald Gaspar , Louise Goujon , Nedim Hadzic , Steffen Hartleif , Bianca Hegen , Maja Hempel , Stephan Henning , Andre Hoerning , Roderick Houwen , Joanne Hughes , Raffaele Iorio , Katarzyna Iwanicka-Pronicka , Martin Jankofsky , Norman Junge , Ino Kanavaki , Aydan Kansu , Sonja Kaspar , Simone Kathemann , Deidre Kelly , Ceyda Tuna Kırsaçlıoğlu , Birgit Knoppke , Martina Kohl , Heike Kölbel , Stefan Kölker , Vassiliki Konstantopoulou , Tatiana Krylova , Zarife Kuloğlu , Alice Kuster , Martin W Laass , Elke Lainka , Eberhard Lurz , Hanna Mandel , Katharina Mayerhanser , Johannes A Mayr , Patrick McKiernan , Patricia McLean , Valerie McLin , Karine Mention , Hanna Müller , Laurent Pasquier , Martin Pavlov , Natalia Pechatnikova , Bianca Peters , Danijela Petković Ramadža , Dorota Piekutowska-Abramczuk , Denisa Pilic , Sanjay Rajwal , Nathalie Rock , Agnès Roetig , René Santer , Wilfried Schenk , Natalia Semenova , Christiane Sokollik , Ekkehard Sturm , Robert W Taylor , Eva Tschiedel , Vaidotas Urbonas , Roser Urreizti , Jan Vermehren , Jerry Vockley , Georg-Friedrich Vogel , Matias Wagner , Wendy van der Woerd , Saskia B Wortmann , Ekaterina Zakharova , Georg Friedrich Hoffmann , Thomas Meitinger , Kei Murayama , Christian Staufner , Holger Prokisch

Heterozygous BRCA1 and BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer.

Journal of the National Cancer Institute

Avec: Christian P Kratz , Dmitrii Smirnov , Robert Autry , Natalie Jäger , Sebastian M Waszak , Anika Großhennig , Riccardo Berutti , Mareike Wendorff , Pierre Hainaut , Stefan M Pfister , Holger Prokisch , Tim Ripperger , David Malkin

Leigh syndrome is the main clinical characteristic of PTCD3 deficiency.

Brain pathology (Zurich, Switzerland)

Avec: Gerard Muñoz-Pujol , Juan D Ortigoza-Escobar , Abraham J Paredes-Fuentes , Cristina Jou , Olatz Ugarteburu , Laura Gort , Delia Yubero , Angels García-Cazorla , Mar O'Callaghan , Jaume Campistol , Jordi Muchart , Vicente A Yépez , Mirjana Gusic , Julien Gagneur , Holger Prokisch , Rafael Artuch , Antonia Ribes , Roser Urreizti , Frederic Tort

International journal of molecular sciences

Avec: Annemarie Luise Kühn , Stefan Frenzel , Alexander Teumer , Katharina Wittfeld , Linda Garvert , Antoine Weihs , Georg Homuth , Holger Prokisch , Robin Bülow , Matthias Nauck , Uwe Völker , Henry Völzke , Hans Jörgen Grabe , Sandra Van der Auwera

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Robert Kopajtich 17 collaborations

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