Thomas Voït

12.3k citations

172 papers · 9.9k · 2 hit papers · h-index 52

Impact in

Genetics top 0.5%
- Neurogenetic and Muscular Disorders Research
- Virus-based gene therapy research
Molecular Biology top 1%
- Muscle Physiology and Disorders
- RNA Research and Splicing
- RNA modifications and cancer
- CRISPR and Genetic Engineering

Papers in

Molecular Biology 109
- Muscle Physiology and Disorders 80
- RNA Research and Splicing 13
- Nuclear Structure and Function 10
Genetics 20
- Neurogenetic and Muscular Disorders Research 18
- Virus-based gene therapy research 12

Co-authors: Uwe Mellies (8 shared papers)Regine Ragette (6 shared papers)Helmut Teschler (6 shared papers)Jörg Klepper (11 shared papers)Christian Dohna‐Schwake (4 shared papers)Alice Steinbrecher (3 shared papers)Hans van Bokhoven (3 shared papers)William B. Dobyns (2 shared papers)
Journals: Neuromuscular Disorders (45 papers)Neurology (9 papers)Neuropediatrics (7 papers)The American Journal of Human Genetics (6 papers)European Journal of Pediatrics (5 papers)
Partner nations: Germany France United States

In The Last Decade

Thomas Voït

167 papers receiving 9.6k citations

Thomas Voït's Hit Papers

align trajectories log scale

Ataluren treatment of patients with nonsense mutation dystrophinopathy 2014 · 343 citations

What are hit papers?

Paper score: A paper's citations measured against the top-1% bar of its own field and year: the square root of citations ÷ bar, so 1 means right at the bar and 2 means four times its citations. The bar blends the citation counts that enter the top 1% of the paper's subfields in its year (weighted 89.5%), of those subfields over all years (0.5%) and of its year across all fields (10%); a subfield and year with fewer than 400 papers takes its year's bar. Papers from 2026 are not scored yet: in an unfinished year, when a paper appeared matters more than how it is cited.

Hit paper: A paper cited at least 1.5× the top-1% bar of its field and year: a paper score of at least √1.5.

2014 Muscle & Nerve
2006 Nature Genetics

Peers

Countries citing papers authored by Thomas Voït

Since Specialization

Citations

This map shows the geographic impact of Thomas Voït's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Thomas Voït with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Thomas Voït more than expected).

Fields of papers citing papers by Thomas Voït

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Thomas Voït. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Thomas Voït. The network helps show where Thomas Voït may publish in the future.

Co-authors

The 25 scholars most cited alongside Thomas Voït, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Thomas Voït Line = papers co-authored together Thomas Voït links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

Showing the 20 most-cited of 172 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus Nature Genetics ·Yanick Joseph Crow, Bruce E. Hayward, Rekha Parmar, Peter Robins, Andrea Leitch, Manir Ali, Deborah N. Black, Hans van Bokhoven Hit paper breakdown →	2006	776
2	Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection Nature Genetics ·Yanick Joseph Crow, Andrea Leitch, Bruce E. Hayward, Anna Garner, Rekha Parmar, Elen Griffith, Manir Ali, Colin A M Semple	2006	596
3	Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome The American Journal of Human Genetics ·Daniel Beltrán-Valero de Bernabé, Sophie Currier, Alice Steinbrecher, Jacopo Celli, Ellen van Beusekom, Bert van der Zwaag, Hülya Kayserili, Luciano Merlini	2002	593
4	Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome The American Journal of Human Genetics ·Gillian Rice, Teresa Patrick, Rekha Parmar, Claire Taylor, Alec Aeby, Jean F. Aicardi, Rafael Artuch, Simon Attard Montalto	2007	373
5	Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial The Lancet ·Craig M. McDonald, Craig Campbell, Ricardo Erazo Torricelli, Richard S. Finkel, Kevin M. Flanigan, Nathalie Goemans, Peter T Heydemann, Anna Kamińska	2017	370
6	Ataluren treatment of patients with nonsense mutation dystrophinopathy Muscle & Nerve ·Katharine M. D. Bushby, Richard S. Finkel, Brenda L. Y. Wong, Richard J. Barohn, Craig Campbell, Giacomo P. Comi, Anne M. Connolly, Kevin M. Flanigan Hit paper breakdown →	2014	343
7	Functional correction in mouse models of muscular dystrophy using exon-skipping tricyclo-DNA oligomers Nature Medicine ·Aurélie Goyenvalle, Graziella Griffith, Arran Babbs, Samir El-Andaloussi, Kariem Ezzat, Aurélie Avril, Branislav Dugovič, Rémi Chaussenot	2015	266
8	Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice Human Molecular Genetics ·Elisa Dominguez, Thibaut Marais, Nicolas Chatauret, Sofia Benkhelifa‐Ziyyat, Sandra I. Duqué, Philippe Ravassard, Romain Carcenac, Stéphanie Astord	2010	256
9	Chinese hamster ovary cell-derived recombinant human acid α-glucosidase in infantile-onset Pompe disease The Journal of Pediatrics ·Priya Sunil Kishnani, Marc P Nicolino, Thomas Voït, Richard C. Rogers, Anne Chun-Hui Tsai, John R. Waterson, Gail E. Herman, Andreas Amalfitano	2006	239
10	Immortalized pathological human myoblasts: towards a universal tool for the study of neuromuscular disorders Skeletal Muscle ·Kamel Mamchaoui, Capucine Trollet, Anne Bigot, Elisa Négroni, Soraya Chaouch, Annie Wolff, Prashanth Kumar Kandalla, Solenne Marie	2011	236
11	tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia Nature Genetics ·Birgit Susanne Budde, Yasmin Namavar, Peter G. Barth, Bwee Tien Poll‐The, Gudrun Nürnberg, Christian Becker, Fred van Ruissen, Marian A. J. Weterman	2008	207
12	ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome Nature Genetics ·Tobias Willer, Hane Lee, Mark Lommel, Takako Yoshida‐Moriguchi, Daniel Beltrán Valero de Bernabé, David P. Venzke, Sebahattin Çirak, Harry Schachter	2012	201
13	Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy The American Journal of Human Genetics ·Lucie Gueneau, A. Bertrand, Jean‐Philippe Jaïs, Mustafa Abdalla M Salih, Tanya Stojkovic, Manfred S. Wehnert, Maria Hoeltzenbein, Simone Spuler	2009	182
14	A Homozygous Mutation in Human PRICKLE1 Causes an Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome The American Journal of Human Genetics ·Alexander G. Bassuk, Robyn H. Wallace, Aimee C. Buhr, Andrew R. Buller, Zaid Afawi, Masahito Shimojo, Shingo Miyata, Shan Chen	2008	182
15	Mutations in the Slow Skeletal Muscle Fiber Myosin Heavy Chain Gene (MYH7) Cause Laing Early-Onset Distal Myopathy (MPD1) The American Journal of Human Genetics ·Christopher S. Meredith, Ralf Herrmann, Cheryl Parry, Khema Liyanage, Danielle E. Dye, Hayley J. Durling, Rachael M. Duff, Kaye Beckman	2004	176
16	Efficacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids (DELOS): a double-blind randomised placebo-controlled phase 3 trial The Lancet ·Gunnar Buyse, Thomas Voït, Ulrike Schara, Chiara S. M. Straathof, Maria Grazia D’Angelo, Günther Bernert, Jean-Marie Cuisset, Richard S. Finkel	2015	155
17	Mybpc3 gene therapy for neonatal cardiomyopathy enables long-term disease prevention in mice Nature Communications ·Giulia Mearini, Doreen Stimpel, Birgit Geertz, Florian Weinberger, Elisabeth Krämer, Saskia Schlossarek, Julia Mourot-Filiatre, Andrea Stoehr	2014	151
18	In-depth analysis of the secretome identifies three major independent secretory pathways in differentiating human myoblasts Journal of Proteomics ·Marie‐Catherine Le Bihan, Anne Bigot, Søren Skov Jensen, Jayne L. Dennis, Adelina Rogowska-Wrzesińska, Jeanne Lainé, Vincent Gache, Denis Furling	2012	134
19	Sleep-disordered breathing and respiratory failure in acid maltase deficiency Neurology ·Uwe Mellies, Regine Ragette, Christian Schwake, Martina Baethmann, Thomas Voït, Helmut Teschler	2001	132
20	Seizure Control and Acceptance of the Ketogenic Diet in GLUT1 Deficiency Syndrome: A 2- to 5-Year Follow-Up of 15 Children Enrolled Prospectively Neuropediatrics ·Jörg Klepper, Hans Scheffer, Baerbel Leiendecker, Elena Gertsen, Stefanie Binder, Maike Leferink, Christoph Hertzberg, Andrea Näke	2005	122

About Thomas Voït

Thomas Voït is a scholar working on Molecular Biology, Genetics, Cardiology and Cardiovascular Medicine, Physiology and Clinical Biochemistry, having authored 172 papers that have together received 9.9k indexed citations. Recurring topics across this work include Muscle Physiology and Disorders (80 papers), Cardiomyopathy and Myosin Studies (26 papers), Neurogenetic and Muscular Disorders Research (18 papers), RNA Research and Splicing (13 papers), Diet and metabolism studies (12 papers), Virus-based gene therapy research (12 papers), Metabolism and Genetic Disorders (11 papers) and Nuclear Structure and Function (10 papers). The work is most often cited by research in Genetics (1.3k citations), Molecular Biology (6.2k citations), Cardiology and Cardiovascular Medicine (1.4k citations), Immunology (1.3k citations) and Physiology (1.2k citations). Thomas Voït has collaborated with scholars based in Germany, France and United States. Frequent co-authors include Uwe Mellies, Regine Ragette, Helmut Teschler, Jörg Klepper, Christian Dohna‐Schwake, Alice Steinbrecher, Hans van Bokhoven, William B. Dobyns, Luis Alberto Garcia and Han G. Brunner. Their work appears in journals such as Neuromuscular Disorders, Neurology, Neuropediatrics, The American Journal of Human Genetics and European Journal of Pediatrics.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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Thomas Voït

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Thomas Voït

Thomas Voït's Hit Papers

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All Works

About Thomas Voït

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