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Richard J T Rodenburg (Richard Rodenburg, R J Rodenburg, Richard J Rodenburg)

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Publication Activity (10 Years)

Years Active: 2016-2023
Publications (10 Years): 18

Top Venues

International journal of molecular sciences

European journal of human genetics : EJHG

Journal of clinical medicine

Human mutation

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

Publications

Federica Conte, Angel Ashikov, Rachel Mijdam, Eline G P van de Ven, Monique van Scherpenzeel, Raisa Veizaj, Seyed P Mahalleh-Yousefi, Merel A Post, Karin Huijben, Daan M Panneman, Richard J T Rodenburg, Nicol C Voermans, Alejandro Garanto, Werner J H Koopman, Hans J C T Wessels, Marek J Noga, Dirk J Lefeber
In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis. International journal of molecular sciences 24 (9) (2023)
Federica Conte, Angel Ashikov, Rachel Mijdam, Eline G P van de Ven, Monique van Scherpenzeel, Raisa Veizaj, Seyed P Mahalleh-Yousefi, Merel A Post, Karin Huijben, Daan M Panneman, Richard J T Rodenburg, Nicol C Voermans, Alejandro Garanto, Werner J H Koopman, Hans J C T Wessels, Marek J Noga, Dirk J Lefeber
In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis. International journal of molecular sciences 24 (9) (2023)
Federica Conte, Angel Ashikov, Rachel Mijdam, Eline G P van de Ven, Monique van Scherpenzeel, Raisa Veizaj, Seyed P Mahalleh-Yousefi, Merel A Post, Karin Huijben, Daan M Panneman, Richard J T Rodenburg, Nicol C Voermans, Alejandro Garanto, Werner J H Koopman, Hans J C T Wessels, Marek J Noga, Dirk J Lefeber
In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis. International journal of molecular sciences 24 (9) (2023)
Magda Cannata Serio, Laurie A Graham, Angel Ashikov, Lars Elmann Larsen, Kimiyo Raymond, Sharita Timal, Gwenn Le Meur, Margret Ryan, Elzbieta Czarnowska, Jos C Jansen, Miao He, Can Ficicioglu, Pavel Pichurin, Linda Hasadsri, Berge Minassian, Alessandra Rugierri, Hannu Kalimo, W Alfredo Ríos-Ocampo, Christian Gilissen, Richard J T Rodenburg, Johan W Jonker, Adriaan G Holleboom, Eva Morava, Joris A Veltman, Piotr Socha, Tom H Stevens, Matias Simons, Dirk J Lefeber
Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease. Hepatology (Baltimore, Md.) 72 (6) (2021)
Sofía Barbosa-Gouveia, Maria Eugenia Vázquez-Mosquera, Emiliano Gonzalez-Vioque, Álvaro Hermida-Ameijeiras, Laura L Valverde, Judith Armstrong, Maria Del Carmen Fons-Estupiña, Liesbeth T M Wintjes, Antonia Kappen, Richard J T Rodenburg, Maria Luz Couce
Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome. International journal of molecular sciences 22 (24) (2021)
Elke de Boer, Charlotte W Ockeloen, Leslie Matalonga, Rita Horvath, null null, Richard J T Rodenburg, Marieke J H Coenen, Mirian Janssen, Dylan Henssen, Christian Gilissen, Wouter Steyaert, Ida Paramonov, null null, Aurélien Trimouille, Tjitske Kleefstra, Alain Verloes, Lisenka E L M Vissers
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis. European journal of human genetics : EJHG 29 (9) (2021)
Sofía Barbosa-Gouveia, Emiliano González-Vioque, Álvaro Hermida, María Unceta Suarez, María Jesús Martínez-González, Filipa Borges, Liesbeth Wintjes, Antonia Kappen, Richard J T Rodenburg, Maria Luz Couce
Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL. Genes 11 (9) (2020)
Liesbeth T M Wintjes, Maina Kava, Frans A van den Brandt, Mariël A M van den Brand, Oksana Lapina, Yngve T Bliksrud, Mari A Kulseth, Silja S Amundsen, Terje R Selberg, Marion Ybema-Antoine, Omar A Z Tutakhel, Lawrence Greed, David R Thorburn, Trine Tangeraas, Shanti Balasubramaniam, Richard J T Rodenburg
A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction. Human mutation 42 (2) (2020)
Tim L Emmerzaal, Graeme Preston, Bram Geenen, Vivienne Verweij, Maximilian Wiesmann, Elisavet Vasileiou, Femke Grüter, Corné de Groot, Jeroen Schoorl, Renske de Veer, Monica Roelofs, Martijn Arts, Yara Hendriksen, Eva Klimars, Taraka R Donti, Brett H Graham, Eva Morava, Richard J T Rodenburg, Tamas Kozicz
Impaired mitochondrial complex I function as a candidate driver in the biological stress response and a concomitant stress-induced brain metabolic reprogramming in male mice. Translational psychiatry 10 (1) (2020)
Naila Haq, Christoph Schmidt-Hieber, Fernando J Sialana, Lorenza Ciani, Janosch Peter Heller, Michelle Stewart, Liz Bentley, Sara E Wells, Richard J T Rodenburg, Patrick M Nolan, Elizabeth Forsythe, Michael C Wu, Gert Lubec, Patricia C Salinas, Michael Häusser, Philip L Beales, Sofia Christou-Savina
Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons. PLoS biology 17 (9) (2019)
Sofia Barbosa-Gouveia, Emiliano González-Vioque, Filipa Borges, Luis Gutiérrez-Solana, Liesbeth Wintjes, Antonia Kappen, Lambert van den Heuvel, Rosaura Leis, Richard J T Rodenburg, Maria Luz Couce
Identification and Characterization of New Variants in FOXRED1 Gene Expands the Clinical Spectrum Associated with Mitochondrial Complex I Deficiency. Journal of clinical medicine 8 (8) (2019)
Marisa W Friederich, Sharita Timal, Christopher A Powell, Cristina Dallabona, Alina Kurolap, Sara Palacios-Zambrano, Drago Bratkovic, Terry G J Derks, David Bick, Katelijne Bouman, Kathryn C Chatfield, Nadine Damouny-Naoum, Megan K Dishop, Tzipora C Falik-Zaccai, Fuad Fares, Ayalla Fedida, Ileana Ferrero, Renata C Gallagher, Rafael Garesse, Micol Gilberti, Cristina González, Katherine Gowan, Clair Habib, Rebecca K Halligan, Limor Kalfon, Kaz Knight, Dirk Lefeber, Laura Mamblona, Hanna Mandel, Adi Mory, John Ottoson, Tamar Paperna, Ger J M Pruijn, Pedro F Rebelo-Guiomar, Ann Saada, Bruno Sainz, Hayley Salvemini, Mirthe H Schoots, Jan A M Smeitink, Maciej J Szukszto, Hendrik J Ter Horst, Frans van den Brandt, Francjan J van Spronsen, Joris A Veltman, Eric Wartchow, Liesbeth T Wintjes, Yaniv Zohar, Miguel A Fernández-Moreno, Hagit N Baris, Claudia Donnini, Michal Minczuk, Richard J T Rodenburg, Johan L K Van Hove
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. Nature communications 9 (1) (2018)
J Gödiker, M Grüneberg, I DuChesne, J Reunert, S Rust, C Westermann, Y Wada, G Classen, C D Langhans, K P Schlingmann, Richard J T Rodenburg, R Pohlmann, T Marquardt
QIL1-dependent assembly of MICOS complex-lethal mutation in C19ORF70 resulting in liver disease and severe neurological retardation. Journal of human genetics 63 (6) (2018)
Sanna Puusepp, Reka Kovacs-Nagy, Bader Alhaddad, Matthias Braunisch, Georg F Hoffmann, Urania Kotzaeridou, Lucia Lichvarova, Mailis Liiv, Christine Makowski, Merle Mandel, Thomas Meitinger, Sander Pajusalu, Richard J T Rodenburg, Dzhamilja Safiulina, Tim M Strom, Inga Talvik, Annika Vaarmann, Callum Wilson, Allen Kaasik, Tobias B Haack, Katrin Õunap
Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency. European journal of human genetics : EJHG 26 (3) (2018)
Richard J T Rodenburg
The functional genomics laboratory: functional validation of genetic variants. Journal of inherited metabolic disease 41 (3) (2018)
Sarah Foriel, Julien Beyrath, Ilse Eidhof, Richard J T Rodenburg, Annette Schenck, Jan A M Smeitink
Feeding difficulties, a key feature of the Drosophila NDUFS4 mitochondrial disease model. Disease models & mechanisms 11 (3) (2018)
Arjan Pol, G Herma Renkema, Albert Tangerman, Edwin G Winkel, Udo F Engelke, Arjan P M de Brouwer, Kevin C Kent Lloyd, Renee S Araiza, Lambert van den Heuvel, Heymut Omran, Heike Olbrich, Marijn Oude Elberink, Christian Gilissen, Richard J T Rodenburg, Jörn Oliver Sass, K Otfried Schwab, Hendrik Schäfer, Hanka Venselaar, J Silvia Sequeira, Huub J M Op den Camp, Ron A Wevers
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis. Nature genetics 50 (1) (2017)
Rolph Pfundt, Marisol Del Rosario, Lisenka E L M Vissers, Michael P Kwint, Irene M Janssen, Nicole de Leeuw, Helger G Yntema, Marcel R Nelen, Dorien Lugtenberg, Erik-Jan Kamsteeg, Nienke Wieskamp, Alexander P A Stegmann, Servi J C Stevens, Richard J T Rodenburg, Annet Simons, Arjen R Mensenkamp, Tuula Rinne, Christian Gilissen, Hans Scheffer, Joris A Veltman, Jayne Y Hehir-Kwa
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders. Genetics in medicine : official journal of the American College of Medical Genetics 19 (6) (2016)

Richard J T Rodenburg.css-eqlu8i{font-size:small;padding-left:4px;} (Richard Rodenburg, R J Rodenburg, Richard J Rodenburg)

Publication Activity (10 Years)

Top Topics

Top Venues

Richard J T Rodenburg (Richard Rodenburg, R J Rodenburg, Richard J Rodenburg)