Holger Prokisch

ORCID

Publication Activity (10 Years)

Years Active: 2015-2024
Publications (10 Years): 68

Top Venues

International journal of molecular sciences

Nature communications

Nature genetics

Brain : a journal of neurology

This page only lists publications with an associated author ORCID identifier.

Publications

Christiane M Neuhofer, 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 25 (9) (2024)
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, Agnes Rotig, Robert W Taylor, James L Keck, David J Pagliarini
Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease. Nature metabolism 6 (6) (2024)
Ugo Sorrentino, Luigi Michele Romito, Barbara Garavaglia, Mario Fichera, Isabel Colangelo, Holger Prokisch, Juliane Winkelmann, Ján Necpál, Robert Jech, Michael Zech
Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant. Tremor and other hyperkinetic movements (New York, N.Y.) 14 (2024)
Christiane M Neuhofer, 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 25 (9) (2024)
Beryll Blickhäuser, Sarah L Stenton, Christiane M Neuhofer, Elisa Floride, Victoria Nesbitt, Carl Fratter, Johannes Koch, Birgit Kauffmann, Claudia Catarino, Lea Dewi Schlieben, Robert Kopajtich, Valerio Carelli, Alfredo A Sadun, Robert McFarland, Fang Fang, Chiara La Morgia, Stéphanie Paquay, Marie Cécile Nassogne, Daniele Ghezzi, Costanza Lamperti, Saskia Wortmann, Jo Poulton, Thomas Klopstock, Holger Prokisch
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant. Brain : a journal of neurology 147 (6) (2024)
Gwendolyn Gramer, Saskia B Wortmann, Junmin Fang-Hoffmann, Dirk Kohlmüller, Jürgen G Okun, Holger Prokisch, Thomas Meitinger, Georg Friedrich Hoffmann
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 10 (1) (2024)
Gwendolyn Gramer, Saskia B Wortmann, Junmin Fang-Hoffmann, Dirk Kohlmüller, Jürgen G Okun, Holger Prokisch, Thomas Meitinger, Georg Friedrich Hoffmann
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 10 (1) (2024)
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 S 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, Tartaglia Marco, Sébastien Küry, Tianyun Wang
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder. Annals of neurology (2024)
Ugo Sorrentino, Luigi Michele Romito, Barbara Garavaglia, Mario Fichera, Isabel Colangelo, Holger Prokisch, Juliane Winkelmann, Ján Necpál, Robert Jech, Michael Zech
Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant. Tremor and other hyperkinetic movements (New York, N.Y.) 14 (2024)
Beryll Blickhäuser, Sarah L Stenton, Christiane M Neuhofer, Elisa Floride, Victoria Nesbitt, Carl Fratter, Johannes Koch, Birgit Kauffmann, Claudia Catarino, Lea Dewi Schlieben, Robert Kopajtich, Valerio Carelli, Alfredo A Sadun, Robert McFarland, Fang Fang, Chiara La Morgia, Stéphanie Paquay, Marie Cécile Nassogne, Daniele Ghezzi, Costanza Lamperti, Saskia Wortmann, Jo Poulton, Thomas Klopstock, Holger Prokisch
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant. Brain : a journal of neurology 147 (6) (2024)
Gwendolyn Gramer, Saskia B Wortmann, Junmin Fang-Hoffmann, Dirk Kohlmüller, Jürgen G Okun, Holger Prokisch, Thomas Meitinger, Georg Friedrich Hoffmann
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 10 (1) (2024)
Christiane M Neuhofer, 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 25 (9) (2024)
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, Agnes Rotig, Robert W Taylor, James L Keck, David J Pagliarini
Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease. Nature metabolism 6 (6) (2024)
Ugo Sorrentino, Luigi Michele Romito, Barbara Garavaglia, Mario Fichera, Isabel Colangelo, Holger Prokisch, Juliane Winkelmann, Ján Necpál, Robert Jech, Michael Zech
Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant. Tremor and other hyperkinetic movements (New York, N.Y.) 14 (2024)
Beryll Blickhäuser, Sarah L Stenton, Christiane M Neuhofer, Elisa Floride, Victoria Nesbitt, Carl Fratter, Johannes Koch, Birgit Kauffmann, Claudia Catarino, Lea Dewi Schlieben, Robert Kopajtich, Valerio Carelli, Alfredo A Sadun, Robert McFarland, Fang Fang, Chiara La Morgia, Stéphanie Paquay, Marie Cécile Nassogne, Daniele Ghezzi, Costanza Lamperti, Saskia Wortmann, Jo Poulton, Thomas Klopstock, Holger Prokisch
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant. Brain : a journal of neurology 147 (6) (2024)
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, Agnes Rotig, Robert W Taylor, James L Keck, David J Pagliarini
Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease. Nature metabolism (2024)
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, Agnes Rotig, Robert W Taylor, James L Keck, David J Pagliarini
Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease. Nature metabolism 6 (6) (2024)
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, Agnes Rotig, Robert W Taylor, James L Keck, David J Pagliarini
Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease. Nature metabolism 6 (6) (2024)
Christian Peter 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
Reply to Evans and Woodward. Journal of the National Cancer Institute 115 (2) (2023)
Nils Wagner, Muhammed H Çelik, Florian R Hölzlwimmer, Christian Mertes, Holger Prokisch, Vicente A Yépez, Julien Gagneur
Aberrant splicing prediction across human tissues. Nature genetics 55 (5) (2023)
Christian Peter 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
Reply to Evans and Woodward. Journal of the National Cancer Institute 115 (2) (2023)
Alessia Nasca, Niccolò E Mencacci, Federica Invernizzi, Michael Zech, Ignacio J Keller Sarmiento, Andrea Legati, Chiara Frascarelli, Bernabe Ignacio Bustos, Luigi Michele Romito, Dimitri Krainc, Juliane Winkelmann, Miryam Carecchio, Nardo Nardocci, Giovanna Zorzi, Holger Prokisch, Steven J Lubbe, Barbara Garavaglia, Daniele Ghezzi
Variants in ATP5F1B are associated with dominantly inherited dystonia. Brain : a journal of neurology (2023)
Dmitrii Smirnov, Nikita Konstantinovskiy, Holger Prokisch
Integrative omics approaches to advance rare disease diagnostics. Journal of inherited metabolic disease (2023)
Christian Peter 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
Reply to Evans and Woodward. Journal of the National Cancer Institute 115 (2) (2023)
Nils Wagner, Muhammed H Çelik, Florian R Hölzlwimmer, Christian Mertes, Holger Prokisch, Vicente A Yépez, Julien Gagneur
Aberrant splicing prediction across human tissues. Nature genetics 55 (5) (2023)
Nils Wagner, Muhammed H Çelik, Florian R Hölzlwimmer, Christian Mertes, Holger Prokisch, Vicente A Yépez, Julien Gagneur
Aberrant splicing prediction across human tissues. Nature genetics 55 (5) (2023)
Nils Wagner, Muhammed H Çelik, Florian R Hölzlwimmer, Christian Mertes, Holger Prokisch, Vicente A Yépez, Julien Gagneur
Aberrant splicing prediction across human tissues. Nature genetics 55 (5) (2023)
Nils Wagner, Muhammed H Çelik, Florian R Hölzlwimmer, Christian Mertes, Holger Prokisch, Vicente A Yépez, Julien Gagneur
Aberrant splicing prediction across human tissues. Nature genetics (2023)
Rui Ban, Robert Kopajtich, Junlan Lv, Sarah L Stenton, Masaru Shimura, Zhaoxia Wang, Yun Yuan, Junling Wang, Xiaodi Han, Zhimei Liu, Qiang Shi, Chuanqiang Pu, Holger Prokisch, Fang Fang, Matthias Elstner
The phenotypic spectrum of COX20-associated mitochondrial disorder. Brain : a journal of neurology (2022)
Annemarie Luise Kühn, Stefan Frenzel, Alexander Teumer, Katharina Wittfeld, Linda Garvert, Antoine Weihs, Georg Homuth, Holger Prokisch, Robin Bülow, Matthias Nauck, Linus Völker, Henry Völzke, Hans Jörgen Grabe, Sandra Van der Auwera
TREML2 Gene Expression and Its Missense Variant rs3747742 Associate with White Matter Hyperintensity Volume and Alzheimer's Disease-Related Brain Atrophy in the General Population. International journal of molecular sciences 23 (22) (2022)
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
Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital. Annals of neurology 91 (4) (2022)
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
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome. Brain : a journal of neurology 145 (5) (2022)
Gerard Muñoz-Pujol, Socorro Alforja-Castiella, Ricardo-Pedro Casaroli-Marano, Blai Morales-Romero, Judit García-Villoria, Vicente A Yépez, Julien Gagneur, Mirjana Gusic, Holger Prokisch, Frederic Tort, Antonia Ribes
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 23 (20) (2022)
Dmitrii Smirnov, Lea D Schlieben, Fatemeh Peymani, Riccardo Berutti, Holger Prokisch
Guidelines for clinical interpretation of variant pathogenicity using RNA phenotypes. Human mutation 43 (8) (2022)
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 Ilmari 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, null null, Thomas Illig, Annette Peters, Tomáš Paus, Zdenka Pausova, Panagiotis Deloukas, Roger Sik Yin Foo, Marjo-Riitta Jarvelin, Jaspal S Kooner, Marie Loh, Matthias Heinig, Christian Gieger, Melanie Waldenberger, John C Chambers
Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function. Nature genetics 54 (1) (2022)
Christian Mertes, Ines F Scheller, Vicente A Yépez, Muhammed H Çelik, Yingjiqiong Liang, Laura S Kremer, Mirjana Gusic, Holger Prokisch, Julien Gagneur
Author Correction: Detection of aberrant splicing events in RNA-seq data using FRASER. Nature communications 13 (1) (2022)
Bigna Katrin 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 Tuura O'Gorman, Vito Porcelli, René Santer, Kuntal Sen, Katja Steinbrücker, Steffen Syrbe, Matias Wagner, Andreas Ziegler, Thomas Zöggeler, Johannes Adalbert Mayr, Holger Prokisch, Saskia B Wortmann
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier. Nutrients 14 (17) (2022)
Michael Zech, Matthias Elstner, Katja Steinbrücker, Céline Bris, Naig Gueguen, René Günther Feichtinger, Melanie T Achleitner, Neslihan Duzkale, Maximilien Périvier, Johannes Koch, Harald Engelhardt, Peter Freisinger, Matias Wagner, Theresa Brunet, Riccardo Berutti, Dmitrii Smirnov, Tharsini Navaratnarajah, Richard J T Rodenburg, Lynn S Pais, Christina Austin-Tse, Melanie O'Leary, Sylvia Boesch, Robert Jech, Somayeh Bakhtiari, Sheng Chih Jin, Friederike Wilbert, Michael C Kruer, Saskia B Wortmann, Matthias Eckenweiler, Johannes A Mayr, Felix Distelmaier, Robert Steinfeld, Juliane Winkelmann, Holger Prokisch
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes. Annals of neurology 91 (2) (2022)
Philip Harrer, Audrey Schalk, Masaru Shimura, Sarah Baer, Nadège Calmels, Marie Aude Spitz, Marie-Thérèse Abi Warde, Elise Schaefer, Volker M Sc Kittke, Yasemin Dincer, Matias Wagner, Ivana Dzinovic, Riccardo Berutti, Tatsuharu Sato, Toshihiko Shirakawa, Yasushi Okazaki, Kei Murayama, Konrad Oexle, Holger Prokisch, Volker Mall, Ivo Melčák, Juliane Winkelmann, Michael Zech
Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions. Annals of neurology (2022)
Christian Peter 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
Heterozygous BRCA1 and BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer. Journal of the National Cancer Institute 114 (11) (2022)
Alexandra Stavsky, Ohad Stoler, Marko Kostic, Tomer Katoshevsky, Essam A Assali, Ivana Savic, Yael Amitai, Holger Prokisch, Steffen Leiz, Cornelia Daumer-Haas, Ilya A Fleidervish, Fabiana Perocchi, Daniel Gitler, Israel Sekler
Author Correction: Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation. Communications biology 4 (1) (2021)
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
Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS. International journal of molecular sciences 22 (15) (2021)
Caroline A Biagosch, Silvia Vidali, Michael Faerberboeck, Svenja-Viola Hensler, Lore Becker, Oana Veronica Amarie, Juan 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, Valérie Gailus-Durner, Martin Hrabě de Angelis, Dirk Janik, Wolfgang Wurst, Johannes Adalbert Mayr, Florentine Radelfahr, Thomas Meitinger, Holger Prokisch, Arcangela Iuso
A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse. Mammalian genome : official journal of the International Mammalian Genome Society 32 (5) (2021)
Charlotte L Alston, Sarah L Stenton, Gavin Hudson, Holger Prokisch, Robert W Taylor
The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi-omic pipelines. The Journal of pathology 254 (4) (2021)
Friederike Charlotte Kortüm, Sinja Kieninger, Pascale Mazzola, Susanne Kohl, Bernd Wissinger, Holger Prokisch, Katarina Stingl, Nicole Weisschuh
X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in RPGR. International journal of molecular sciences 22 (2) (2021)
Sarah L Stenton, Ying Zou, Hua Cheng, Holger Prokisch, Fang Fang
Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations. Annals of neurology 89 (3) (2021)
Christian Mertes, Ines F Scheller, Vicente A Yépez, Muhammed H Çelik, Yingjiqiong Liang, Laura S Kremer, Mirjana Gusic, Holger Prokisch, Julien Gagneur
Detection of aberrant splicing events in RNA-seq data using FRASER. Nature communications 12 (1) (2021)
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 Ahmad Aziz, Andrea A 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 Bülent Ekici, Karlhans Endlich, James S Floyd, Eliza Fraszczyk, Xu Gao, Xin 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 Edi 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 Anna Catharina Meeks, Lili A Milani, Pashupati P Mishra, Matthias Nauck, Christoph Nowak, Annette Peters, Holger Prokisch, Bruce M Psaty, Olli T Raitakari, Scott M Ratliff, Alexander 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, Linus Völker, Juliane Winkelmann, Bruce H R Wolffenbuttel, Wei Zhao, Yinan Zheng, null null, null null, Marie Loh, Harold Snieder, Melanie Waldenberger, Daniel Levy, Shreeram Akilesh, Owen M Woodward, Katalin Suszták, Alexander Teumer, Anna Kottgen
Epigenome-wide association study of serum urate reveals insights into urate co-regulation and the SLC2A9 locus. Nature communications 12 (1) (2021)
Matthias Elstner, Konrad Olszewski, Holger Prokisch, Florentine Radelfahr, Marta Murgia
Multi-Omics Approach to Mitochondrial DNA Damage in Human Muscle Fibers. International journal of molecular sciences 22 (20) (2021)
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 Ahmad Aziz, Andrea A 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 Bülent Ekici, Karlhans Endlich, Kathryn L Evans, James S Floyd, Myriam Fornage, Lude Franke, Eliza Fraszczyk, Xu Gao, Xin 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, Marjo-Riitta Jarvelin, Shih-Jen Hwang, Marjo-Riitta Jarvelin, Sharon L R Kardia, Silva Kasela, Marcus Edi 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 Anna Catharina Meeks, Lili A Milani, Pashupati P Mishra, Matthias Nauck, Ana Navas-Acien, Christoph Nowak, Annette Peters, Holger Prokisch, Bruce M Psaty, Olli T Raitakari, Scott M Ratliff, Alexander 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, null null, null null, Marie Loh, Harold Snieder, Daniel Levy, Melanie Waldenberger, Katalin Suszták, Anna Kottgen, Alexander Teumer
Meta-analyses identify DNA methylation associated with kidney function and damage. Nature communications 12 (1) (2021)
Jana Key, Sylvia Torres-Odio, Nina C Bach, Suzana Gispert, Gabriele Koepf, Marina Reichlmeir, Andrew Phillip West, Holger Prokisch, Peter Freisinger, William G Newman, Stavit Shalev, Stephan A Sieber, Ilka Wittig, Georg Auburger
Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX with Its Interacting Nucleoid Proteins, and of mtDNA. Cells 10 (12) (2021)
Urmo Võsa, Annique A J Claringbould, Harm-Jan Westra, Marc Jan Bonder, Patrick Deelen, Biao Zeng, Holger Kirsten, Ashis Saha, Roman Kreuzhuber, Seyhan Yazar, Harm Brugge, Roy Oelen, Dylan H de Vries, Monique G P van der Wijst, Silva Kasela, Natalia Pervjakova, Isabel Alves, Marie-Julie Favé, Mawussé Agbessi, Mark W Christiansen, Rick Jansen, Ilkka Seppälä, Lin Tong, Alexander Teumer, Katharina Schramm, Gibran Hemani, Joost A M Verlouw, Hanieh Yaghootkar, Reyhan Sönmez Flitman, Andrew Anand Brown, Viktorija Kukushkina, Anette Kalnapenkis, Sina Rueger, Eleonora Porcu, Jaanika Kronberg, Johannes Kettunen, Bernett Lee, Futao Zhang, Ting Qi, Jose Alquicira Hernandez, Wibowo Arindrarto, Frank Beutner, null null, null null, Julia Dmitrieva, Mahmoud Elansary, Benjamin P Fairfax, Michel Georges, Bastiaan T Heijmans, Alex W Hewitt, Mika Kähönen, Yungil Kim, Julian C Knight, Peter Kovacs, Knut Krohn, Shuang Li, Markus Loeffler, Urko M Marigorta, Hailang Mei, Yukihide Momozawa, Martina Müller-Nuraysid, Matthias Nauck, Michel G Nivard, Brenda W J H Penninx, Jonathan K Pritchard, Olli T Raitakari, Olaf Rotzschke, Pieternella Eline Slagboom, Coen D A Stehouwer, Michael Stumvoll, Patrick Sullivan, Peter A C 't Hoen, Joachim Thiery, Anke Tönjes, Jenny Van Dongen, Maarten van Iterson, Jan Herman Veldink, Linus Völker, C A Robert Warmerdam, Cisca Wijmenga, Morris A Swertz, Anand Kumar Andiappan, Grant W Montgomery, Samuli Ripatti, Markus Perola, Zoltan Kutalik, Emmanouil T Dermitzakis, Sven Bergmann, Timothy M Frayling, Joyce van Meurs, Holger Prokisch, Habibul Ahsan, Brandon L Pierce, Terho Lehtimäki, Dorret I Boomsma, Bruce M Psaty, Sina A Gharib, Philip Awadalla, Lili A Milani, Willem Hendrik Ouwehand, Kate Downes, Oliver Stegle, Alexis Battle, Peter M Visscher, Jian Yang, Markus Scholz, Joseph Powell, Greg Gibson, Tõnu Esko, Lude H Franke
Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression. Nature genetics 53 (9) (2021)
Alexandra Stavsky, Ohad Stoler, Marko Kostic, Tomer Katoshevsky, Essam A Assali, Ivana Savic, Yael Amitai, Holger Prokisch, Steffen Leiz, Cornelia Daumer-Haas, Ilya A Fleidervish, Fabiana Perocchi, Daniel Gitler, Israel Sekler
Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation. Communications biology 4 (1) (2021)
Sarah L Stenton, Dorota Piekutowska-Abramczuk, Lea Kulterer, Robert Kopajtich, Kristl G Claeys, Elżbieta Ciara, Johannes Eisen, Ploski Rafal, Ewa Pronicka, Katarzyna Malczyk, Matias Wagner, Saskia B Wortmann, Holger Prokisch
Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance. Human mutation 42 (3) (2021)
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
Detection of aberrant gene expression events in RNA sequencing data. Nature protocols 16 (2) (2021)
Mirjana Gusic, Holger Prokisch
Genetic basis of mitochondrial diseases. FEBS letters 595 (8) (2021)
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 Silvio Bertini, Daniele Ghezzi, Rosalba Carrozzo, Nazzareno Diodato
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation. Human mutation 42 (6) (2021)
Silvia Vidali, Raffaele Gerlini, Kyle Thompson, Jill E Urquhart, Jana Meisterknecht, Juan Antonio Aguilar-Pimentel, Oana V Amarie, Lore Becker, Catherine Breen, Julia Calzada-Wack, Nirav F Chhabra, Yi-Li Cho, Patricia da Silva-Buttkus, René Günther Feichtinger, Kristine Gampe, Lillian Garrett, Kai P Hoefig, Sabine Maria Hölter, Elisabeth Jameson, Tanja Klein-Rodewald, Stefanie Leuchtenberger, Susan Marschall, Philipp Mayer-Kuckuk, Gregor Miller, Manuela A Oestereicher, Kristina Pfannes, Birgit Rathkolb, Jan Rozman, Charlotte Sanders, Nadine Spielmann, Claudia Stoeger, Marten Szibor, Irina Treise, John H Walter, Wolfgang Wurst, Johannes Adalbert Mayr, Helmut Fuchs, Ulrich Gärtner, Ilka Wittig, Robert W Taylor, William G Newman, Holger Prokisch, Valérie Gailus-Durner, Martin Hrabě de Angelis
Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes. EMBO molecular medicine 13 (12) (2021)
Claudia Stendel, Christiane M Neuhofer, Elisa Floride, Shi Yuqing, Rebecca D Ganetzky, Joohyun Park, Peter Freisinger, Cornelia Kornblum, Stephanie Kleinle, Ludger Schöls, Felix Distelmaier, Georg M Stettner, Boriana Büchner, Marni J Falk, Johannes Adalbert Mayr, Matthis Synofzik, Angela Abicht, Tobias B Haack, Holger Prokisch, Saskia B Wortmann, Kei Murayama, Fang Fang, Thomas Klopstock, null null
Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration. Neurology. Genetics 6 (1) (2020)
Basak Eraslan, Dongxue Wang, Mirjana Gusic, Holger Prokisch, Björn M Hallström, Mathias Uhlen, Anna Asplund, Frederik Pontén, Thomas Wieland, Thomas Hopf, Hannes Hahne, Bernhard Kuster, Julien Gagneur
Quantification and discovery of sequence determinants of protein-per-mRNA amount in 29 human tissues. Molecular systems biology 15 (2) (2019)
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
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 27 (6) (2019)
Alexessander Couto Alves, N Maneka G De Silva, Ville Karhunen, Ulla Sovio, Shikta Das, H Rob Taal, Nicole M Warrington, Alexandra M Lewin, Marika A Kaakinen, Diana L Cousminer, Elisabeth Thiering, Nicholas John Timpson, Tom A Bond, Estelle Lowry, Christopher D Brown, Xavier Estivil, 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, null null, 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 Widen, Hakon H Hakonarson, Andrew T Hattersley, Alina Rodriguez, Marco Banterle, Joachim Heinrich, Barbara Heude, John W Holloway, Albert Hofman, Elina Hyppӧnen, Hazel M Inskip, Lee M Kaplan, Asa K Hedman, Esa Läärä, Holger Prokisch, Harald Grallert, Timo A Lakka, Debbie A Lawlor, Mads Melbye, Tarunveer Singh Ahluwalia, Marcella Marinelli, Iona Y Millwood, Lyle J Palmer, Craig E Pennell, John R B Perry, Susan M Ring, Markku J Savolainen, Fernando Rivadeneira, Marie Standl, Jordi Sunyer, Carla M T Tiesler, Andre G Uitterlinden, William Schierding, Justin Martin 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 Jarvelin, null null
GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child, and adult BMI. Science advances 5 (9) (2019)
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
Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls. Orphanet journal of rare diseases 14 (1) (2019)
Sarah L Stenton, Laura S Kremer, Robert Kopajtich, Christina Ludwig, Holger Prokisch
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 43 (1) (2019)
Laura S Kremer, Daniel M Bader, Christian Mertes, Robert Kopajtich, Garwin Pichler, Arcangela Iuso, Tobias B Haack, Elisabeth Graf, Thomas Schwarzmayr, Caterina Terrile, Eliška Koňaříková, Birgit Repp, Gabi Kastenmüller, Jerzy Adamski, Peter Lichtner, Christoph Leonhardt, Benoit Funalot, Alice Donati, Valeria Tiranti, Anne Lombes, Claude Jardel, Dieter Gläser, Robert W Taylor, Daniele Ghezzi, Johannes A Mayr, Agnes Rötig, Peter Freisinger, Felix Distelmaier, Tim M Strom, Thomas Meitinger, Julien Gagneur, Holger Prokisch
Genetic diagnosis of Mendelian disorders via RNA sequencing. Nature communications 8 (2017)
Ayman W. El-Hattab, Hongzheng Dai, Mohammed Almannai, Julia Wang, Eissa A Faqeih, Ali Al Asmari, Mohammed A M Saleh, Mohammed A O Elamin, Majid Alfadhel, Fowzan S Alkuraya, Mais Hashem, Mazhor S Aldosary, Rawan Almass, Faten B Almutairi, Maysoon Alsagob, Mohammed Al-Owain, Shirin Al-Sharfa, Zuhair N Al-Hassnan, Zuhair Rahbeeni, Mohammed A Al-Muhaizea, Nawal Makhseed, Gretchen K Foskett, David A Stevenson, Natalia Gomez-Ospina, Chung Lee, Richard G Boles, Samantha A Schrier Vergano, Saskia B Wortmann, Wolfgang Sperl, Thomas Opladen, Georg F Hoffmann, Maja Hempel, Holger Prokisch, Bader Alhaddad, Johannes Adalbert Mayr, Wenyaw Chan, Namik Kaya, Lee-Jun C Wong
Molecular and clinical spectra of FBXL4 deficiency. Human mutation 38 (12) (2017)
Lindsey Van Haute, Sabine Dietmann, Laura Kremer, Shobbir Hussain, Sarah F Pearce, Christopher A Powell, Joanna Rorbach, Rebecca Lantaff, Sandra Blanco, Sascha Sauer, Urania Kotzaeridou, Georg F Hoffmann, Yasin Memari, Anja Kolb-Kokocinski, Richard Durbin, Johannes A Mayr, Michaela Frye, Holger Prokisch, Michal Minczuk
Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3. Nature communications 7 (2016)
Karin Tuschl, Esther Meyer, Leonardo E Valdivia, Ningning Zhao, Chris Dadswell, Alaa Abdul-Sada, Christina Y Hung, Michael A Simpson, W K Chong, Thomas S Jacques, Randy L Woltjer, Simon Eaton, Allison Gregory, Lynn Sanford, Eleanna Kara, Henry Houlden, Stephan M Cuno, Holger Prokisch, Lorella Valletta, Valeria Tiranti, Rasha Younis, Eamonn R Maher, John Spencer, Ania Straatman-Iwanowska, Paul Gissen, Laila A M Selim, Guillem Pintos-Morell, Wifredo Coroleu-Lletget, Shekeeb S Mohammad, Sangeetha Yoganathan, Russell C Dale, Maya Thomas, Jason Rihel, Olaf A Bodamer, Caroline A Enns, Susan J Hayflick, Peter T Clayton, Philippa B Mills, Manju A Kurian, Stephen W Wilson
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. Nature communications 7 (2016)
Marie Collet, Zahra Assouline, Damien Bonnet, Marlène Rio, Franck Iserin, Daniel Sidi, Alice Goldenberg, Caroline Lardennois, Metodi Dimitrov Metodiev, Birgit Haberberger, Tobias Haack, Arnold Munnich, Holger Prokisch, Agnès Rötig
High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood. European journal of human genetics : EJHG 24 (8) (2015)

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