Robert W Taylor

ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 46

Top Venues

EMBO molecular medicine

Nature genetics

Nature metabolism

European journal of human genetics : EJHG

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

Publications

Ana Topf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M Sealy, Andrei Smolnikov, Richard J White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M Laricchia, Cristina Venturini, Bas Vroling, Sarah L Stenton, Beryl B Cummings, Elizabeth Harris, Chiara Marini-Bettolo, Jordi Diaz-Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina M England, Jane Patrick, Sundos Al-Husayni, Valerie Biancalana, Alan H Beggs, Istvan Bodi, Shobhana Bommireddipalli, Carsten G Bonnemann, Anita Cairns, Mei-Ting Chiew, Kristl G Claeys, Sandra T Cooper, Mark R Davis, Sandra Donkervoort, Corrie E Erasmus, Mahmoud R Fassad, Casie A Genetti, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xavière Lornage, Wolfgang N Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana E Mongini, Nuria Muelas, Atsuko Nishikawa, Anne H O'Donnell-Luria, Narumi Ogonuki, Gina L O'Grady, Emily O'Heir, Stéphanie Paquay, Rahul Phadke, Beth A Pletcher, Norma B Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W Taylor, Allysa Tuite, Peter Van den Bergh, Grace VanNoy, Nicol C Voermans, Julia V Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan Jesus Vilchez, Daniel G MacArthur, Anna Sarkozy, Heather J Cordell, Bjarne Udd, Elisabeth M Busch-Nentwich, Francesco Muntoni, Volker Straub
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature genetics 56 (3) (2024)
Ana Topf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M Sealy, Andrei Smolnikov, Richard J White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M Laricchia, Cristina Venturini, Bas Vroling, Sarah L Stenton, Beryl B Cummings, Elizabeth Harris, Chiara Marini-Bettolo, Jordi Diaz-Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina M England, Jane Patrick, Sundos Al-Husayni, Valerie Biancalana, Alan H Beggs, Istvan Bodi, Shobhana Bommireddipalli, Carsten G Bonnemann, Anita Cairns, Mei-Ting Chiew, Kristl G Claeys, Sandra T Cooper, Mark R Davis, Sandra Donkervoort, Corrie E Erasmus, Mahmoud R Fassad, Casie A Genetti, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xavière Lornage, Wolfgang N Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana E Mongini, Nuria Muelas, Atsuko Nishikawa, Anne H O'Donnell-Luria, Narumi Ogonuki, Gina L O'Grady, Emily O'Heir, Stéphanie Paquay, Rahul Phadke, Beth A Pletcher, Norma B Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W Taylor, Allysa Tuite, Peter Van den Bergh, Grace VanNoy, Nicol C Voermans, Julia V Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan Jesus Vilchez, Daniel G MacArthur, Anna Sarkozy, Heather J Cordell, Bjarne Udd, Elisabeth M Busch-Nentwich, Francesco Muntoni, Volker Straub
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature genetics (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)
Ana Topf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M Sealy, Andrei Smolnikov, Richard J White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M Laricchia, Cristina Venturini, Bas Vroling, Sarah L Stenton, Beryl B Cummings, Elizabeth Harris, Chiara Marini-Bettolo, Jordi Diaz-Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina M England, Jane Patrick, Sundos Al-Husayni, Valerie Biancalana, Alan H Beggs, Istvan Bodi, Shobhana Bommireddipalli, Carsten G Bonnemann, Anita Cairns, Mei-Ting Chiew, Kristl G Claeys, Sandra T Cooper, Mark R Davis, Sandra Donkervoort, Corrie E Erasmus, Mahmoud R Fassad, Casie A Genetti, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xavière Lornage, Wolfgang N Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana E Mongini, Nuria Muelas, Atsuko Nishikawa, Anne H O'Donnell-Luria, Narumi Ogonuki, Gina L O'Grady, Emily O'Heir, Stéphanie Paquay, Rahul Phadke, Beth A Pletcher, Norma B Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W Taylor, Allysa Tuite, Peter Van den Bergh, Grace VanNoy, Nicol C Voermans, Julia V Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan Jesus Vilchez, Daniel G MacArthur, Anna Sarkozy, Heather J Cordell, Bjarne Udd, Elisabeth M Busch-Nentwich, Francesco Muntoni, Volker Straub
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature genetics 56 (3) (2024)
Ana Topf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M Sealy, Andrei Smolnikov, Richard J White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M Laricchia, Cristina Venturini, Bas Vroling, Sarah L Stenton, Beryl B Cummings, Elizabeth Harris, Chiara Marini-Bettolo, Jordi Diaz-Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina M England, Jane Patrick, Sundos Al-Husayni, Valerie Biancalana, Alan H Beggs, Istvan Bodi, Shobhana Bommireddipalli, Carsten G Bonnemann, Anita Cairns, Mei-Ting Chiew, Kristl G Claeys, Sandra T Cooper, Mark R Davis, Sandra Donkervoort, Corrie E Erasmus, Mahmoud R Fassad, Casie A Genetti, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xavière Lornage, Wolfgang N Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana E Mongini, Nuria Muelas, Atsuko Nishikawa, Anne H O'Donnell-Luria, Narumi Ogonuki, Gina L O'Grady, Emily O'Heir, Stéphanie Paquay, Rahul Phadke, Beth A Pletcher, Norma B Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W Taylor, Allysa Tuite, Peter Van den Bergh, Grace VanNoy, Nicol C Voermans, Julia V Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan Jesus Vilchez, Daniel G MacArthur, Anna Sarkozy, Heather J Cordell, Bjarne Udd, Elisabeth M Busch-Nentwich, Francesco Muntoni, Volker Straub
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature genetics 56 (3) (2024)
Ana Topf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M Sealy, Andrei Smolnikov, Richard J White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M Laricchia, Cristina Venturini, Bas Vroling, Sarah L Stenton, Beryl B Cummings, Elizabeth Harris, Chiara Marini-Bettolo, Jordi Diaz-Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina M England, Jane Patrick, Sundos Al-Husayni, Valerie Biancalana, Alan H Beggs, Istvan Bodi, Shobhana Bommireddipalli, Carsten G Bonnemann, Anita Cairns, Mei-Ting Chiew, Kristl G Claeys, Sandra T Cooper, Mark R Davis, Sandra Donkervoort, Corrie E Erasmus, Mahmoud R Fassad, Casie A Genetti, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xavière Lornage, Wolfgang N Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana E Mongini, Nuria Muelas, Atsuko Nishikawa, Anne H O'Donnell-Luria, Narumi Ogonuki, Gina L O'Grady, Emily O'Heir, Stéphanie Paquay, Rahul Phadke, Beth A Pletcher, Norma B Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W Taylor, Allysa Tuite, Peter Van den Bergh, Grace VanNoy, Nicol C Voermans, Julia V Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan Jesus Vilchez, Daniel G MacArthur, Anna Sarkozy, Heather J Cordell, Bjarne Udd, Elisabeth M Busch-Nentwich, Francesco Muntoni, Volker Straub
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature genetics 56 (3) (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 (2024)
Ana Topf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M Sealy, Andrei Smolnikov, Richard J White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M Laricchia, Cristina Venturini, Bas Vroling, Sarah L Stenton, Beryl B Cummings, Elizabeth Harris, Chiara Marini-Bettolo, Jordi Diaz-Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina M England, Jane Patrick, Sundos Al-Husayni, Valerie Biancalana, Alan H Beggs, Istvan Bodi, Shobhana Bommireddipalli, Carsten G Bonnemann, Anita Cairns, Mei-Ting Chiew, Kristl G Claeys, Sandra T Cooper, Mark R Davis, Sandra Donkervoort, Corrie E Erasmus, Mahmoud R Fassad, Casie A Genetti, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xavière Lornage, Wolfgang N Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana E Mongini, Nuria Muelas, Atsuko Nishikawa, Anne H O'Donnell-Luria, Narumi Ogonuki, Gina L O'Grady, Emily O'Heir, Stéphanie Paquay, Rahul Phadke, Beth A Pletcher, Norma B Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W Taylor, Allysa Tuite, Peter Van den Bergh, Grace VanNoy, Nicol C Voermans, Julia V Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan Jesus Vilchez, Daniel G MacArthur, Anna Sarkozy, Heather J Cordell, Bjarne Udd, Elisabeth M Busch-Nentwich, Francesco Muntoni, Volker Straub
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature genetics 56 (3) (2024)
Ana Topf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M Sealy, Andrei Smolnikov, Richard J White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M Laricchia, Cristina Venturini, Bas Vroling, Sarah L Stenton, Beryl B Cummings, Elizabeth Harris, Chiara Marini-Bettolo, Jordi Diaz-Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina M England, Jane Patrick, Sundos Al-Husayni, Valerie Biancalana, Alan H Beggs, Istvan Bodi, Shobhana Bommireddipalli, Carsten G Bonnemann, Anita Cairns, Mei-Ting Chiew, Kristl G Claeys, Sandra T Cooper, Mark R Davis, Sandra Donkervoort, Corrie E Erasmus, Mahmoud R Fassad, Casie A Genetti, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xavière Lornage, Wolfgang N Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana E Mongini, Nuria Muelas, Atsuko Nishikawa, Anne H O'Donnell-Luria, Narumi Ogonuki, Gina L O'Grady, Emily O'Heir, Stéphanie Paquay, Rahul Phadke, Beth A Pletcher, Norma B Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W Taylor, Allysa Tuite, Peter Van den Bergh, Grace VanNoy, Nicol C Voermans, Julia V Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan Jesus Vilchez, Daniel G MacArthur, Anna Sarkozy, Heather J Cordell, Bjarne Udd, Elisabeth M Busch-Nentwich, Francesco Muntoni, Volker Straub
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature genetics 56 (3) (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)
Direnis Erdinc, Alejandro Rodríguez-Luis, Mahmoud R Fassad, Sarah Mackenzie, Christopher Mark Watson, Sebastian Valenzuela, Xie Xie, Katja E Menger, Kate Sergeant, Kate Craig, Sila Hopton, Gavin Falkous, null null, Joanna Poulton, Hector Garcia-Moreno, Paola Giunti, Carlos A de Moura Aschoff, Jonas A Morales Saute, Amelia J Kirby, Camilo Toro, Lynne A Wolfe, Danica Novacic, Lior Greenbaum, Aviva Eliyahu, Ortal Barel, Yair Anikster, Robert McFarland, Gráinne S Gorman, Andrew M Schaefer, Claes M Gustafsson, Robert W Taylor, Maria Falkenberg, Thomas J Nicholls
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability. EMBO molecular medicine (2023)
Giang Dien Thanh Nguyen, Keri-Lyn Kozul, Yi Cui, Brendan Townsend, Prajakta Gosavi Kulkarni, Soo Siang Ooi, Antonio Marzio, Nissa Carrodus, Steven Zuryn, Michele Pagano, Robert G Parton, Michael Lazarou, S Sean Millard, Robert W Taylor, Brett M Collins, Mathew Jk Jones, Julia K Pagan
FBXL4 suppresses mitophagy by restricting the accumulation of NIX and BNIP3 mitophagy receptors. The EMBO journal (2023)
Eleni Mavraki, Robyn Labrum, Kate Sergeant, Charlotte L Alston, Cathy Woodward, Conrad Smith, Charlotte V Y Knowles, Yogen Patel, Philip Hodsdon, Jack P Baines, Emma L Blakely, James M Polke, Robert W Taylor, Carl Fratter
Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines. European journal of human genetics : EJHG 31 (2) (2022)
Eleni Mavraki, Robyn Labrum, Kate Sergeant, Charlotte L Alston, Cathy Woodward, Conrad Smith, Charlotte V Y Knowles, Yogen Patel, Philip Hodsdon, Jack P Baines, Emma L Blakely, James M Polke, Robert W Taylor, Carl Fratter
Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines. European journal of human genetics : EJHG (2022)
Kah Ying Ng, Guleycan Lutfullahoglu Bal, Uwe Richter, Omid Safronov, Lars Paulin, Cory D Dunn, Ville O Paavilainen, Julie Richer, William G Newman, Robert W Taylor, Brendan J Battersby
Nonstop mRNAs generate a ground state of mitochondrial gene expression noise. Science advances 8 (46) (2022)
Jarred W Rensvold, Evgenia Shishkova, Yuriy Sverchkov, Ian J Miller, Ömer Arda Çetinkaya, Angela Pyle, Mateusz Manicki, Dain R Brademan, Yasemin Alanay, Julian Raiman, Adam Jochem, Paul D Hutchins, Sean R Peters, Vanessa Linke, Katherine A Overmyer, Austin Z Salome, Alexander S Hebert, Catherine E Vincent, Nicholas W Kwiecien, Matthew J P Rush, Michael S Westphall, Mark Craven, Nurten A Akarsu, Robert W Taylor, Joshua J Coon, David J Pagliarini
Defining mitochondrial protein functions through deep multiomic profiling. Nature 606 (7913) (2022)
Eleni Mavraki, Robyn Labrum, Kate Sergeant, Charlotte L Alston, Cathy Woodward, Conrad Smith, Charlotte V Y Knowles, Yogen Patel, Philip Hodsdon, Jack P Baines, Emma L Blakely, James M Polke, Robert W Taylor, Carl Fratter
Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines. European journal of human genetics : EJHG 31 (2) (2022)
Kelsey A Nolden, John M Egner, Jack J Collier, Oliver M Russell, Charlotte L Alston, Megan C Harwig, Michael E Widlansky, Souphatta Sasorith, Inês A Barbosa, Andrew G L Douglas, Júlia Baptista, Mark Walker, Deirdre E Donnelly, Andrew A Morris, Hui Jeen Tan, Manju A Kurian, Kathleen Gorman, Santosh Mordekar, Charu Deshpande, Rajib Samanta, Robert McFarland, R Blake Hill, Robert W Taylor, Monika Oláhová
Novel <i>DNM1L</i> variants impair mitochondrial dynamics through divergent mechanisms. Life science alliance 5 (12) (2022)
Mazhor Aldosary, Maysoon Alsagob, Hanan AlQudairy, Ana C González-Álvarez, Stefan T Arold, Mohammad Anas Dababo, Omar A Alharbi, Rawan Almass, AlBandary AlBakheet, Dalia AlSarar, Alya Qari, Mysoon M Al-Ansari, Monika Oláhová, Saif A Al-Shahrani, Moeenaldeen AlSayed, Dilek Colak, Robert W Taylor, Mohammed AlOwain, Namik Kaya
A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families. Cells 11 (19) (2022)
Eleni Mavraki, Robyn Labrum, Kate Sergeant, Charlotte L Alston, Cathy Woodward, Conrad Smith, Charlotte V Y Knowles, Yogen Patel, Philip Hodsdon, Jack P Baines, Emma L Blakely, James M Polke, Robert W Taylor, Carl Fratter
Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines. European journal of human genetics : EJHG 31 (2) (2022)
James J P Alix, Maria Plesia, Gavin R Lloyd, Alexander P Dudgeon, Catherine A Kendall, Channa Hewamadduma, Marios Hadjivassiliou, Christopher J McDermott, Gráinne Siobhan Gorman, Robert W Taylor, Dame Pamela J Shaw, John Charles Clifford Day
Rapid identification of human muscle disease with fibre optic Raman spectroscopy. The Analyst 147 (11) (2022)
Eleni Mavraki, Robyn Labrum, Kate Sergeant, Charlotte L Alston, Cathy Woodward, Conrad Smith, Charlotte V Y Knowles, Yogen Patel, Philip Hodsdon, Jack P Baines, Emma L Blakely, James M Polke, Robert W Taylor, Carl Fratter
Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines. European journal of human genetics : EJHG (2022)
Noelia Fradejas-Villar, Simon Bohleber, Wenchao Zhao, Uschi Reuter, Annika Kotter, Mark Helm, Rainer Knoll, Robert McFarland, Robert W Taylor, Yufeng Mo, Kenjyo Miyauchi, Yuriko Sakaguchi, Tsutomu Suzuki, Ulrich Schweizer
The Effect of tRNA[Ser]Sec Isopentenylation on Selenoprotein Expression. International journal of molecular sciences 22 (21) (2021)
Boris Pantic, Daniel Ives, Mara Mennuni, Diego Perez-Rodriguez, Uxoa Fernandez-Pelayo, Amaia Lopez de Arbina, Mikel Muñoz-Oreja, Marina Villar-Fernandez, Thanh-Mai Julie Dang, Lodovica Vergani, Iain G Johnston, Robert D S Pitceathly, Robert McFarland, Michael G Hanna, Robert W Taylor, Ian James Holt, Antonella Spinazzola
2-Deoxy-D-glucose couples mitochondrial DNA replication with mitochondrial fitness and promotes the selection of wild-type over mutant mitochondrial DNA. Nature communications 12 (1) (2021)
Jack J Collier, Claire Guissart, Monika Oláhová, Souphatta Sasorith, Florence Piron-Prunier, Fumi Suomi, David Zhang, Nuria Martinez-Lopez, Nicolas Leboucq, Angela Bahr, Silvia Azzarello-Burri, Selina Reich, Ludger Schöls, Tuomo M Polvikoski, Pierre Meyer, Lise Larrieu, Andrew M Schaefer, Hessa S Alsaif, Suad Alyamani, Stephan Zuchner, Inês A Barbosa, Charu Deshpande, Angela Pyle, Anita Rauch, Matthis Synofzik, Fowzan Sami Alkuraya, François Rivier, Mina Ryten, Robert McFarland, Agnès Delahodde, Thomas G McWilliams, Michel Koenig, Robert W Taylor
Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans. The New England journal of medicine 384 (25) (2021)
Jack J Collier, Fumi Suomi, Monika Oláhová, Thomas G McWilliams, Robert W Taylor
Emerging roles of ATG7 in human health and disease. EMBO molecular medicine 13 (12) (2021)
Jack J Collier, Monika Oláhová, Thomas G McWilliams, Robert W Taylor
ATG7 safeguards human neural integrity. Autophagy 17 (9) (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)
Jack J Collier, Robert W Taylor
Machine learning algorithms reveal the secrets of mitochondrial dynamics. EMBO molecular medicine 13 (6) (2021)
Chun-Shik Shin, Shuxia Meng, Spiros D Garbis, Annie Moradian, Robert W Taylor, Michael J Sweredoski, Brett Lomenick, David C Chan
LONP1 and mtHSP70 cooperate to promote mitochondrial protein folding. Nature communications 12 (1) (2021)
null null, Damian Smedley, Katherine R Smith, Antonio Martin, Ellen A Thomas, Ellen M McDonagh, Valentina Cipriani, Jamie M Ellingford, Gavin Arno, Arianna Tucci, Jana Vandrovcova, Georgia Chan, Hywel J Williams, Thiloka Ratnaike, Wei Wei, Kathleen Stirrups, Kristina Ibanez, Loukas Moutsianas, Matthias Wielscher, Anna Need, Michael R Barnes, Letizia Vestito, James Buchanan, Sarah Wordsworth, Sofie Ashford, Karola Rehmström, Emily Li, Gavin Fuller, Philip Twiss, Olivera Spasic-Boskovic, Sally Halsall, R Andres Floto, Kenneth Poole, Annette Wagner, Sarju G Mehta, Mark Gurnell, Nigel Burrows, Roger James, Christopher Penkett, Eleanor Dewhurst, Stefan Gräf, Rutendo Mapeta, Mary Kasanicki, Andrea Haworth, Helen Savage, Melanie Babcock, Martin G Reese, Mark Bale, Emma Baple, Christopher Boustred, Helen Brittain, Anna de Burca, Marta Bleda, Andrew Devereau, Dina Halai, Eik Haraldsdottir, Zerin Hyder, Dalia Kasperaviciute, Christine Patch, Dimitris Polychronopoulos, Angela Matchan, Razvan Sultana, Mina Ryten, Ana L T Tavares, Carolyn Tregidgo, Clare Turnbull, Matthew Welland, Suzanne Wood, Catherine Snow, Eleanor Williams, Sarah Leigh, Rebecca E Foulger, Louise C Daugherty, Olivia Niblock, Ivone U S Leong, Caroline F Wright, Jim Davies, Charles Crichton, James Welch, Kerrie Woods, Lara Abulhoul, Paul Aurora, Detlef Bockenhauer, Alexander Broomfield, Maureen A Cleary, Tanya Lam, Mehul Dattani, Emma Footitt, Vijeya Ganesan, Stephanie Grunewald, Sandrine Compeyrot-Lacassagne, Francesco Muntoni, Clarissa Pilkington, Rosaline Quinlivan, Nikhil Thapar, Colin Wallis, Lucy R Wedderburn, Austen Worth, Teofila Bueser, Cecilia Compton, Charu Deshpande, Hiva Fassihi, Eshika Haque, Louise Izatt, Dragana Josifova, Shehla Mohammed, Leema Robert, Sarah Rose, Deborah Ruddy, Robert Sarkany, Genevieve Say, Adam C Shaw, Agata Wolejko, Bishoy Habib, Gavin Burns, Sarah Hunter, Russell J Grocock, Sean J Humphray, Peter Nick Robinson, Melissa Haendel, Michael A Simpson, Siddharth Banka, Jill Clayton-Smith, Sofia Douzgou, Georgina Hall, Huw B Thomas, Raymond T O'Keefe, Michel Michaelides, Anthony T Moore, Sam Malka, Nikolas Pontikos, Andrew C Browning, Volker Straub, Gráinne Siobhan Gorman, Rita Horvath, Richard Quinton, Andrew M Schaefer, Patrick Yu-Wai-Man, Doug M Turnbull, Robert McFarland, Robert W Taylor, Emer O'Connor, Janice Yip, Katrina Newland, Huw R Morris, James Polke, Nicholas W Wood, Carolyn Campbell, Carme Camps, Kate Gibson, Nils Koelling, Tracy Lester, Andrea H Németh, Claire Palles, Smita Patel, Noemi B A Roy, Arjune Sen, John Taylor, Pilar Cacheiro, Julius O Jacobsen, Eleanor G Seaby, Val Davison, Lyn Chitty, Angela Douglas, Kikkeri Naresh, Dom McMullan, Sian Ellard, I Karen Temple, Andrew D Mumford, Gill Wilson, Phil Beales, Maria Bitner-Glindzicz, Graeme Black, John R Bradley, Paul Brennan, John Burn, Patrick F Chinnery, Perry Mark Elliott, Frances Flinter, Henry Houlden, Melita Irving, William Newman, Shamima Rahman, John A Sayer, Jenny C Taylor, Andrew R Webster, Andrew O M Wilkie, Willem H Ouwehand, F Lucy Raymond, John Chisholm, Sue Hill, David Bentley, Richard H Scott, Tom Fowler, Augusto Rendon, Mark Caulfield
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report. The New England journal of medicine 385 (20) (2021)
Monika Oláhová, Bradley Peter, Zsolt Szilagyi, Hector Diaz-Maldonado, Meenakshi Singh, Ewen W Sommerville, Emma L Blakely, Jack J Collier, Emily Hoberg, Viktor Stránecký, Hana Hartmannová, Anthony J Bleyer, Kim L McBride, Sasigarn A Bowden, Zuzana Korandová, Alena Pecinová, Hans-Hilger Ropers, Kimia Kahrizi, Hossein Najmabadi, Mark A Tarnopolsky, Lauren I Brady, K Nicole Weaver, Carlos E Prada, Katrin Õunap, Monica H Wojcik, Sander Pajusalu, Safoora B Syeda, Lynn Pais, Elicia A Estrella, Christine C Bruels, Louis M Kunkel, Peter B Kang, Penelope E Bonnen, Tomáš Mráček, Stanislav Kmoch, Gráinne S Gorman, Maria Falkenberg, Claes M Gustafsson, Robert W Taylor
POLRMT mutations impair mitochondrial transcription causing neurological disease. Nature communications 12 (1) (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)
David Alsina, Oleksandr Lytovchenko, Aleksandra Schab, Ilian Atanassov, Florian A Schober, Min Jiang, Camilla Koolmeister, Anna Wedell, Robert W Taylor, Anna Wredenberg, Nils-Göran Larsson
FBXL4 deficiency increases mitochondrial removal by autophagy. EMBO molecular medicine 12 (7) (2020)
Corina M Chilibeck, Emma E Glamuzina, Casey Y-J Ung, Emma L Blakely, Robert W Taylor, Andrea L Vincent
Albinism and a mitochondrial DNA deletion. Ophthalmic genetics 41 (3) (2020)
Hannah Steele, Aurora Gomez-Duran, Angela Pyle, Sila Hopton, Jane Newman, Renae J Stefanetti, Sarah J Charman, Jehill D Parikh, Langping He, Carlos Pardo-Hernández, Djordje G Jakovljevic, Kieren G Hollingsworth, Alan J Robinson, Robert W Taylor, Leonardo Bottolo, Rita Horvath, Patrick F Chinnery
Metabolic effects of bezafibrate in mitochondrial disease. EMBO molecular medicine 12 (3) (2020)
Ana Cotta, Charlotte L Alston, Sidney Baptista-Junior, Julia F Paim, Elmano Carvalho, Monica M Navarro, Marie Appleton, Yi Shiau Ng, Jaquelin Valicek, Antonio L da-Cunha-Junior, Maria I Lima, Alessandra de la Rocque Ferreira, Reinaldo I Takata, Iain P Hargreaves, Gráinne S Gorman, Robert McFarland, Germaine Pierre, Robert W Taylor
Early-onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion. JIMD reports 54 (1) (2020)
Ahmad Alahmad, Alessia Nasca, Juliana Heidler, Kyle Thompson, Monika Oláhová, Andrea Legati, Eleonora Lamantea, Jana Meisterknecht, Manuela Spagnolo, Langping He, Seham Alameer, Fahad Hakami, Abeer Almehdar, Anna Ardissone, Charlotte L Alston, Robert McFarland, Ilka Wittig, Daniele Ghezzi, Robert W Taylor
Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I. EMBO molecular medicine 12 (11) (2020)
Kyle Thompson, Jack J Collier, Ruth I C Glasgow, Fiona M Robertson, Angela Pyle, Emma L Blakely, Charlotte L Alston, Monika Oláhová, Robert McFarland, Robert W Taylor
Recent advances in understanding the molecular genetic basis of mitochondrial disease. Journal of inherited metabolic disease 43 (1) (2019)
Hannah Hayhurst, Irenaeus F M de Coo, Dorota Piekutowska-Abramczuk, Charlotte L Alston, Sunil Sharma, Kyle Thompson, Rocio Rius, Langping He, Sila Hopton, Rafal Ploski, Elżbieta Ciara, Nicole J Lake, Alison G Compton, Martin B Delatycki, Aad Verrips, Penelope E Bonnen, Simon A Jones, Andrew A Morris, David Shakespeare, John Chrisodoulou, Dorota Wesol-Kucharska, Dariusz Rokicki, Hubert J M Smeets, Ewa Pronicka, David R Thorburn, Grainne S Gorman, Robert McFarland, Robert W Taylor, Yi Shiau Ng
Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis. Annals of clinical and translational neurology 6 (3) (2019)
Ewen W Sommerville, Ilaria Dalla Rosa, Masha M Rosenberg, Francesco Bruni, Kyle Thompson, Mariana Rocha, Emma L Blakely, Langping He, Gavin Falkous, Andrew M Schaefer, Patrick Yu-Wai-Man, Patrick F Chinnery, Lizbeth Hedstrom, Antonella Spinazzola, Robert W Taylor, Gráinne S Gorman
Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance. Clinical genetics 97 (2) (2019)
Kyle Thompson, Nicole Mai, Monika Oláhová, Filippo Scialó, Luke E Formosa, David A Stroud, Madeleine Garrett, Nichola Z Lax, Fiona M Robertson, Cristina Jou, Andres Nascimento, Carlos Ortez, Cecilia Jimenez-Mallebrera, Steven A Hardy, Langping He, Garry K Brown, Paula Marttinen, Robert McFarland, Alberto Sanz, Brendan J Battersby, Penelope E Bonnen, Michael T Ryan, Zofia Ma Chrzanowska-Lightowlers, Robert N Lightowlers, Robert W Taylor
OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect. EMBO molecular medicine 10 (11) (2019)
Makenzie Saoura, Christopher A Powell, Robert Kopajtich, Ahmad Alahmad, Haya H Al-Balool, Buthaina Albash, Majid Alfadhel, Charlotte L Alston, Enrico Silvio 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
Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing. Human mutation 40 (10) (2019)
Nandaki Keshavan, Jose Abdenur, Glenn Anderson, Zahra Assouline, Giulia Barcia, Lamia Bouhikbar, Anupam Chakrapani, Maureen Cleary, Marta C Cohen, François Feillet, Carl Fratter, Natalie S Hauser, Tom Jacques, Amanda Lam, Helen McCullagh, Rahul Phadke, Agnès Rötig, Mark Sharrard, Mariella T Simon, Conrad Smith, Ewen W Sommerville, Robert W Taylor, Wyatt W Yue, Shamima Rahman
The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency. Genetics in medicine : official journal of the American College of Medical Genetics 22 (1) (2019)

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Robert W Taylor