Mina Ryten (M Ryten)

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 60

Top Topics

Amyotrophic Lateral Sclerosis

Mild Cognitive Impairment

Top Venues

NPJ Parkinson's disease

Science translational medicine

medRxiv : the preprint server for health sciences

Brain : a journal of neurology

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

Publications

Emil Karl Gustavsson, Siddharth Sethi, Yujing Gao, Jonathan William Brenton, Sonia Garcia-Ruiz, David Zhang, Raquel Garza, Regina Hertfelder Reynolds, James R Evans, Zhongbo Chen, Melissa Grant-Peters, Hannah Macpherson, Kylie Montgomery, Rhys Dore, Anna I Wernick, Charles Arber, Selina Wray, Sonia Gandhi, Julian Esselborn, Cornelis Blauwendraat, Christopher H Douse, Anita Adami, Diahann A M Atacho, Antonina Kouli, Annelies Quaegebeur, Roger A Barker, Elisabet Englund, Frances Platt, Johan Jakobsson, Nicholas W Wood, Henry Houlden, Harpreet Saini, Carla F Bento, John A Hardy, Mina Ryten
The annotation of GBA1 has been concealed by its protein-coding pseudogene GBAP1 . Science advances 10 (26) (2024)
Lesley Yue Wu, Raquel Real, Alejandro Martinez-Carrasco, Ruth Chia, Michael A Lawton, Maryam Shoai, Catherine Bresner, Cornelis Blauwendraat, Andrew B Singleton, Mina Ryten, null null, Sonja W Scholz, Bryan J Traynor, Nigel M Williams, Michele Tao-Ming Hu, Yoav Ben-Shlomo, Donald G Grosset, John Hardy, Huw R Morris
Investigation of the genetic aetiology of Lewy body diseases with and without dementia. Brain communications 6 (4) (2024)
Pilar Alvarez Jerez, Kensuke Daida, Francis P Grenn, Laksh Malik, Abigail Miano-Burkhardt, Mary B Makarious, Jinhui Ding, Raphael J Gibbs, Anni Moore, Xylena Reed, Michael A Nalls, Syed I Shah, Medhat Mahmoud, Fritz J Sedlazeck, Egor Dolzhenko, Morgan Park, Hirotaka Iwaki, Kimberley J Billingsley, Mina Ryten, Cornelis Blauwendraat, Andrew B Singleton, Kimberley J Billingsley
Characterizing a complex CT-rich haplotype in intron 4 of SNCA using large-scale targeted amplicon long-read sequencing. NPJ Parkinson's disease 10 (1) (2024)
Sonam Gurung, Oskar Vilhelmsson Timmermand, Dany P Perocheau, Ana Luisa Gil-Martinez, Magdalena Minnion, Loukia Touramanidou, Sherry Fang, Martina Messina, Youssef Khalil, Justyna Spiewak, Abigail R Barber, Richard S Edwards, Patrícia Lipari Pinto, Patrick F Finn, Alex Cavedon, Summar Siddiqui, Lisa Rice, Paolo G V Martini, Deborah Ridout, Wendy Heywood, Ian Hargreaves, Simon J R Heales, Philippa B Mills, Simon N Waddington, Paul Gissen, Simon Eaton, Mina Ryten, Martin Feelisch, Andrea Frassetto, Timothy H Witney, Julien Baruteau
mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria. Science translational medicine 16 (729) (2024)
Pilar Alvarez Jerez, Kensuke Daida, Francis P Grenn, Laksh Malik, Abigail Miano-Burkhardt, Mary B Makarious, Jinhui Ding, Raphael J Gibbs, Anni Moore, Xylena Reed, Michael A Nalls, Syed I Shah, Medhat Mahmoud, Fritz J Sedlazeck, Egor Dolzhenko, Morgan Park, Hirotaka Iwaki, Kimberley J Billingsley, Mina Ryten, Cornelis Blauwendraat, Andrew B Singleton, Kimberley J Billingsley
Characterizing a complex CT-rich haplotype in intron 4 of SNCA using large-scale targeted amplicon long-read sequencing. NPJ Parkinson's disease 10 (1) (2024)
Lesley Yue Wu, Raquel Real, Alejandro Martinez-Carrasco, Ruth Chia, Michael A Lawton, Maryam Shoai, Catherine Bresner, Cornelis Blauwendraat, Andrew B Singleton, Mina Ryten, null null, Sonja W Scholz, Bryan J Traynor, Nigel M Williams, Michele Tao-Ming Hu, Yoav Ben-Shlomo, Donald G Grosset, John Hardy, Huw R Morris
Investigation of the genetic aetiology of Lewy body diseases with and without dementia. Brain communications 6 (4) (2024)
Sonam Gurung, Oskar Vilhelmsson Timmermand, Dany P Perocheau, Ana Luisa Gil-Martinez, Magdalena Minnion, Loukia Touramanidou, Sherry Fang, Martina Messina, Youssef Khalil, Justyna Spiewak, Abigail R Barber, Richard S Edwards, Patrícia Lipari Pinto, Patrick F Finn, Alex Cavedon, Summar Siddiqui, Lisa Rice, Paolo G V Martini, Deborah Ridout, Wendy Heywood, Ian Hargreaves, Simon J R Heales, Philippa B Mills, Simon N Waddington, Paul Gissen, Simon Eaton, Mina Ryten, Martin Feelisch, Andrea Frassetto, Timothy H Witney, Julien Baruteau
mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria. Science translational medicine 16 (729) (2024)
Louise A Huuki-Myers, Abby Spangler, Nicholas J Eagles, Kelsey D Montgomery, Sang Ho Kwon, Bo-Yi Guo, Melissa Grant-Peters, Heena R Divecha, Madhavi Tippani, Chaichontat Sriworarat, Annie B Nguyen, Prashanthi Ravichandran, Matthew N Tran, Arta Seyedian, null null, Thomas M Hyde, Joel E Kleinman, Alexis J Battle, Stephanie Cerceo Page, Mina Ryten, Stephanie C Hicks, Keri Martinowich, Leonardo Collado-Torres, Kristen R Maynard, null null
A data-driven single-cell and spatial transcriptomic map of the human prefrontal cortex. Science (New York, N.Y.) 384 (6698) (2024)
Emil Karl Gustavsson, Jordan Follett, Joanne Trinh, Sandeep Kumar Barodia, Raquel Real, Zhiyong Liu, Melissa Grant-Peters, Jesse D Fox, Silke Appel-Cresswell, A Jon Stoessl, Alex Rajput, Ali H Rajput, Roland Auer, Russel Tilney, Marc Sturm, Tobias B Haack, Suzanne Lesage, Christelle Tesson, Alexis Brice, Carles Vilariño-Güell, Mina Ryten, Matthew S Goldberg, Andrew B West, Michele Tao-Ming Hu, Huw R Morris, Manu Sharma, Ziv Gan Or, Bedia Samanci, Pawel Lis, Maria Teresa Periñán, Rim Amouri, Samia Ben Sassi, Faycel Hentati, null null, Francesca Tonelli, Dario R Alessi, Matthew J Farrer
A pathogenic variant in RAB32 causes autosomal dominant Parkinson's disease and activates LRRK2 kinase . medRxiv : the preprint server for health sciences (2024)
Emil Karl Gustavsson, Siddharth Sethi, Yujing Gao, Jonathan William Brenton, Sonia Garcia-Ruiz, David Zhang, Raquel Garza, Regina Hertfelder Reynolds, James R Evans, Zhongbo Chen, Melissa Grant-Peters, Hannah Macpherson, Kylie Montgomery, Rhys Dore, Anna I Wernick, Charles Arber, Selina Wray, Sonia Gandhi, Julian Esselborn, Cornelis Blauwendraat, Christopher H Douse, Anita Adami, Diahann A M Atacho, Antonina Kouli, Annelies Quaegebeur, Roger A Barker, Elisabet Englund, Frances Platt, Johan Jakobsson, Nicholas W Wood, Henry Houlden, Harpreet Saini, Carla F Bento, John A Hardy, Mina Ryten
The annotation of GBA1 has been concealed by its protein-coding pseudogene GBAP1 . Science advances 10 (26) (2024)
Emil Karl Gustavsson, Jordan Follett, Joanne Trinh, Sandeep Kumar Barodia, Raquel Real, Zhiyong Liu, Melissa Grant-Peters, Jesse D Fox, Silke Appel-Cresswell, A Jon Stoessl, Alex Rajput, Ali H Rajput, Roland Auer, Russel Tilney, Marc Sturm, Tobias B Haack, Suzanne Lesage, Christelle Tesson, Alexis Brice, Carles Vilariño-Güell, Mina Ryten, Matthew S Goldberg, Andrew B West, Michele Tao-Ming Hu, Huw R Morris, Manu Sharma, Ziv Gan Or, Bedia Samanci, Pawel Lis, Maria Teresa Periñán, Rim Amouri, Samia Ben Sassi, Faycel Hentati, null null, Francesca Tonelli, Dario R Alessi, Matthew J Farrer
A pathogenic variant in RAB32 causes autosomal dominant Parkinson's disease and activates LRRK2 kinase. medRxiv : the preprint server for health sciences (2024)
Sonam Gurung, Oskar Vilhelmsson Timmermand, Dany P Perocheau, Ana Luisa Gil-Martinez, Magdalena Minnion, Loukia Touramanidou, Sherry Fang, Martina Messina, Youssef Khalil, Justyna Spiewak, Abigail R Barber, Richard S Edwards, Patrícia Lipari Pinto, Patrick F Finn, Alex Cavedon, Summar Siddiqui, Lisa Rice, Paolo G V Martini, Deborah Ridout, Wendy Heywood, Ian Hargreaves, Simon J R Heales, Philippa B Mills, Simon N Waddington, Paul Gissen, Simon Eaton, Mina Ryten, Martin Feelisch, Andrea Frassetto, Timothy H Witney, Julien Baruteau
mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria. Science translational medicine 16 (729) (2024)
Emil Karl Gustavsson, Jordan Follett, Joanne Trinh, Sandeep Kumar Barodia, Raquel Real, Zhiyong Liu, Melissa Grant-Peters, Jesse D Fox, Silke Appel-Cresswell, A Jon Stoessl, Alex Rajput, Ali H Rajput, Roland Auer, Russel Tilney, Marc Sturm, Tobias B Haack, Suzanne Lesage, Christelle Tesson, Alexis Brice, Carles Vilariño-Güell, Mina Ryten, Matthew S Goldberg, Andrew B West, Michele Tao-Ming Hu, Huw R Morris, Manu Sharma, Ziv Gan Or, Bedia Samanci, Pawel Lis, Maria Teresa Periñán, Rim Amouri, Samia Ben Sassi, Faycel Hentati, null null, Francesca Tonelli, Dario R Alessi, Matthew J Farrer
A pathogenic variant in RAB32 causes autosomal dominant Parkinson's disease and activates LRRK2 kinase. medRxiv : the preprint server for health sciences (2024)
Louise A Huuki-Myers, Abby Spangler, Nicholas J Eagles, Kelsey D Montgomery, Sang Ho Kwon, Bo-Yi Guo, Melissa Grant-Peters, Heena R Divecha, Madhavi Tippani, Chaichontat Sriworarat, Annie B Nguyen, Prashanthi Ravichandran, Matthew N Tran, Arta Seyedian, null null, Thomas M Hyde, Joel E Kleinman, Alexis J Battle, Stephanie Cerceo Page, Mina Ryten, Stephanie C Hicks, Keri Martinowich, Leonardo Collado-Torres, Kristen R Maynard, null null
A data-driven single-cell and spatial transcriptomic map of the human prefrontal cortex. Science (New York, N.Y.) 384 (6698) (2024)
Lesley Yue Wu, Raquel Real, Alejandro Martinez-Carrasco, Ruth Chia, Michael A Lawton, Maryam Shoai, Catherine Bresner, Cornelis Blauwendraat, Andrew B Singleton, Mina Ryten, null null, Sonja W Scholz, Bryan J Traynor, Nigel M Williams, Michele Tao-Ming Hu, Yoav Ben-Shlomo, Donald G Grosset, John Hardy, Huw R Morris
Investigation of the genetic aetiology of Lewy body diseases with and without dementia. Brain communications 6 (4) (2024)
Louise A Huuki-Myers, Abby Spangler, Nicholas J Eagles, Kelsey D Montgomery, Sang Ho Kwon, Bo-Yi Guo, Melissa Grant-Peters, Heena R Divecha, Madhavi Tippani, Chaichontat Sriworarat, Annie B Nguyen, Prashanthi Ravichandran, Matthew N Tran, Arta Seyedian, null null, Thomas M Hyde, Joel E Kleinman, Alexis J Battle, Stephanie Cerceo Page, Mina Ryten, Stephanie C Hicks, Keri Martinowich, Leonardo Collado-Torres, Kristen R Maynard, null null
A data-driven single-cell and spatial transcriptomic map of the human prefrontal cortex. Science (New York, N.Y.) 384 (6698) (2024)
Emil Karl Gustavsson, Siddharth Sethi, Yujing Gao, Jonathan William Brenton, Sonia Garcia-Ruiz, David Zhang, Raquel Garza, Regina Hertfelder Reynolds, James R Evans, Zhongbo Chen, Melissa Grant-Peters, Hannah Macpherson, Kylie Montgomery, Rhys Dore, Anna I Wernick, Charles Arber, Selina Wray, Sonia Gandhi, Julian Esselborn, Cornelis Blauwendraat, Christopher H Douse, Anita Adami, Diahann A M Atacho, Antonina Kouli, Annelies Quaegebeur, Roger A Barker, Elisabet Englund, Frances Platt, Johan Jakobsson, Nicholas W Wood, Henry Houlden, Harpreet Saini, Carla F Bento, John A Hardy, Mina Ryten
The annotation of GBA1 has been concealed by its protein-coding pseudogene GBAP1 . Science advances 10 (26) (2024)
Sonam Gurung, Oskar Vilhelmsson Timmermand, Dany P Perocheau, Ana Luisa Gil-Martinez, Magdalena Minnion, Loukia Touramanidou, Sherry Fang, Martina Messina, Youssef Khalil, Justyna Spiewak, Abigail R Barber, Richard S Edwards, Patrícia Lipari Pinto, Patrick F Finn, Alex Cavedon, Summar Siddiqui, Lisa Rice, Paolo G V Martini, Deborah Ridout, Wendy Heywood, Ian Hargreaves, Simon J R Heales, Philippa B Mills, Simon N Waddington, Paul Gissen, Simon Eaton, Mina Ryten, Martin Feelisch, Andrea Frassetto, Timothy H Witney, Julien Baruteau
mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria. Science translational medicine 16 (729) (2024)
Emil Karl Gustavsson, Jordan Follett, Joanne Trinh, Sandeep Kumar Barodia, Raquel Real, Zhiyong Liu, Melissa Grant-Peters, Jesse D Fox, Silke Appel-Cresswell, A Jon Stoessl, Alex Rajput, Ali H Rajput, Roland Auer, Russel Tilney, Marc Sturm, Tobias B Haack, Suzanne Lesage, Christelle Tesson, Alexis Brice, Carles Vilariño-Güell, Mina Ryten, Matthew S Goldberg, Andrew B West, Michele Tao-Ming Hu, Huw R Morris, Manu Sharma, Ziv Gan Or, Bedia Samanci, Pawel Lis, Maria Teresa Periñán, Rim Amouri, Samia Ben Sassi, Faycel Hentati, null null, Francesca Tonelli, Dario R Alessi, Matthew J Farrer
A pathogenic variant in RAB32 causes autosomal dominant Parkinson's disease and activates LRRK2 kinase. medRxiv : the preprint server for health sciences (2024)
Sonam Gurung, Oskar Vilhelmsson Timmermand, Dany P Perocheau, Ana Luisa Gil-Martinez, Magdalena Minnion, Loukia Touramanidou, Sherry Fang, Martina Messina, Youssef Khalil, Justyna Spiewak, Abigail R Barber, Richard S Edwards, Patrícia Lipari Pinto, Patrick F Finn, Alex Cavedon, Summar Siddiqui, Lisa Rice, Paolo G V Martini, Deborah Ridout, Wendy Heywood, Ian Hargreaves, Simon J R Heales, Philippa B Mills, Simon N Waddington, Paul Gissen, Simon Eaton, Mina Ryten, Martin Feelisch, Andrea Frassetto, Timothy H Witney, Julien Baruteau
mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria. Science translational medicine 16 (729) (2024)
Nikita Neale, Frida Lona-Durazo, Mina Ryten, Sarah A Gagliano Taliun
Leveraging sex-genetic interactions to understand brain disorders: recent advances and current gaps. Brain communications 6 (3) (2024)
Sonam Gurung, Oskar Vilhelmsson Timmermand, Dany P Perocheau, Ana Luisa Gil-Martinez, Magdalena Minnion, Loukia Touramanidou, Sherry Fang, Martina Messina, Youssef Khalil, Justyna Spiewak, Abigail R Barber, Richard S Edwards, Patrícia Lipari Pinto, Patrick F Finn, Alex Cavedon, Summar Siddiqui, Lisa Rice, Paolo G V Martini, Deborah Ridout, Wendy Heywood, Ian Hargreaves, Simon J R Heales, Philippa B Mills, Simon N Waddington, Paul Gissen, Simon Eaton, Mina Ryten, Martin Feelisch, Andrea Frassetto, Timothy H Witney, Julien Baruteau
mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria. Science translational medicine 16 (729) (2024)
Louise A Huuki-Myers, Abby Spangler, Nicholas J Eagles, Kelsey D Montgomery, Sang Ho Kwon, Bo-Yi Guo, Melissa Grant-Peters, Heena R Divecha, Madhavi Tippani, Chaichontat Sriworarat, Annie B Nguyen, Prashanthi Ravichandran, Matthew N Tran, Arta Seyedian, null null, Thomas M Hyde, Joel E Kleinman, Alexis J Battle, Stephanie Cerceo Page, Mina Ryten, Stephanie C Hicks, Keri Martinowich, Leonardo Collado-Torres, Kristen R Maynard, null null
A data-driven single-cell and spatial transcriptomic map of the human prefrontal cortex. Science (New York, N.Y.) 384 (6698) (2024)
Emil Karl Gustavsson, Jordan Follett, Joanne Trinh, Sandeep Kumar Barodia, Raquel Real, Zhiyong Liu, Melissa Grant-Peters, Jesse D Fox, Silke Appel-Cresswell, A Jon Stoessl, Alex Rajput, Ali H Rajput, Roland Auer, Russel Tilney, Marc Sturm, Tobias B Haack, Suzanne Lesage, Christelle Tesson, Alexis Brice, Carles Vilariño-Güell, Mina Ryten, Matthew S Goldberg, Andrew B West, Michele Tao-Ming Hu, Huw R Morris, Manu Sharma, Ziv Gan Or, Bedia Samanci, Pawel Lis, Maria Teresa Periñán, Rim Amouri, Samia Ben Sassi, Faycel Hentati, null null, Francesca Tonelli, Dario R Alessi, Matthew J Farrer
A pathogenic variant in RAB32 causes autosomal dominant Parkinson's disease and activates LRRK2 kinase. medRxiv : the preprint server for health sciences (2024)
Pilar Alvarez Jerez, Kensuke Daida, Francis P Grenn, Laksh Malik, Abigail Miano-Burkhardt, Mary B Makarious, Jinhui Ding, Raphael J Gibbs, Anni Moore, Xylena Reed, Michael A Nalls, Syed I Shah, Medhat Mahmoud, Fritz J Sedlazeck, Egor Dolzhenko, Morgan Park, Hirotaka Iwaki, Kimberley J Billingsley, Mina Ryten, Cornelis Blauwendraat, Andrew B Singleton, Kimberley J Billingsley
Characterizing a complex CT-rich haplotype in intron 4 of SNCA using large-scale targeted amplicon long-read sequencing. NPJ Parkinson's disease 10 (1) (2024)
Sonam Gurung, Oskar Vilhelmsson Timmermand, Dany P Perocheau, Ana Luisa Gil-Martinez, Magdalena Minnion, Loukia Touramanidou, Sherry Fang, Martina Messina, Youssef Khalil, Justyna Spiewak, Abigail R Barber, Richard S Edwards, Patrícia Lipari Pinto, Patrick F Finn, Alex Cavedon, Summar Siddiqui, Lisa Rice, Paolo G V Martini, Deborah Ridout, Wendy Heywood, Ian Hargreaves, Simon J R Heales, Philippa B Mills, Simon N Waddington, Paul Gissen, Simon Eaton, Mina Ryten, Martin Feelisch, Andrea Frassetto, Timothy H Witney, Julien Baruteau
mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria. Science translational medicine 16 (729) (2024)
Sonam Gurung, Oskar Vilhelmsson Timmermand, Dany P Perocheau, Ana Luisa Gil-Martinez, Magdalena Minnion, Loukia Touramanidou, Sherry Fang, Martina Messina, Youssef Khalil, Justyna Spiewak, Abigail R Barber, Richard S Edwards, Patrícia Lipari Pinto, Patrick F Finn, Alex Cavedon, Summar Siddiqui, Lisa Rice, Paolo G V Martini, Deborah Ridout, Wendy Heywood, Ian Hargreaves, Simon J R Heales, Philippa B Mills, Simon N Waddington, Paul Gissen, Simon Eaton, Mina Ryten, Martin Feelisch, Andrea Frassetto, Timothy H Witney, Julien Baruteau
mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria. Science translational medicine 16 (729) (2024)
Nikita Neale, Frida Lona-Durazo, Mina Ryten, Sarah A Gagliano Taliun
Leveraging sex-genetic interactions to understand brain disorders: recent advances and current gaps. Brain communications 6 (3) (2024)
Regina Hertfelder Reynolds, Aaron Z Wagen, Frida Lona-Durazo, Sonja W Scholz, Maryam Shoai, John Hardy, Sarah A Gagliano Taliun, Mina Ryten
Local genetic correlations exist among neurodegenerative and neuropsychiatric diseases. NPJ Parkinson's disease 9 (1) (2023)
Alejandro Martinez Carrasco, Raquel Real, Michael A Lawton, Hirotaka Iwaki, Manuela M X Tan, Lesley Wu, Nigel M Williams, Camille Carroll, Michele T M Hu, Donald G Grosset, John Hardy, Mina Ryten, Thomas Foltynie, Yoav Ben-Shlomo, Maryam Shoai, Huw R Morris
Genetic meta-analysis of levodopa induced dyskinesia in Parkinson's disease. NPJ Parkinson's disease 9 (1) (2023)
Regina Hertfelder Reynolds, Aaron Z Wagen, Frida Lona-Durazo, Sonja W Scholz, Maryam Shoai, John Hardy, Sarah A Gagliano Taliun, Mina Ryten
Author Correction: Local genetic correlations exist among neurodegenerative and neuropsychiatric diseases. NPJ Parkinson's disease 9 (1) (2023)
Aine Fairbrother-Browne, Sonia Garcia-Ruiz, Regina Hertfelder Reynolds, Mina Ryten, Alan Hodgkinson
ensemblQueryR: fast, flexible and high-throughput querying of Ensembl LD API endpoints in R. GigaByte (Hong Kong, China) 2023 (2023)
Amy R Hicks, Regina Hertfelder Reynolds, Ben O'Callaghan, Sonia Garcia Ruiz, Ana Luisa Gil Martinez, Juan Botia, Alexander J Whitworth, Mina Ryten
The non-specific lethal complex regulates genes and pathways genetically linked to Parkinson's disease. Brain : a journal of neurology (2023)
Zhongbo Chen, Arianna Tucci, Valentina Cipriani, Emil Karl Gustavsson, Kristina Ibañez, Regina Hertfelder Reynolds, David Zhang, Letizia Vestito, Alejandro Cisterna-García, Siddharth Sethi, Jonathan W Brenton, Sonia García-Ruiz, Aine Fairbrother-Browne, Ana-Luisa Gil-Martinez, null null, John A Hardy, Damian Smedley, Henry Houlden, Juan Botía, Mina Ryten
Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia. Brain : a journal of neurology (2023)
Lesley Yue Wu, Raquel Real, Alejandro Martinez Carrasco, Ruth Chia, Michael A Lawton, Maryam Shoai, Catherine Bresner, Leon Hubbard, Cornelis Blauwendraat, Andrew B Singleton, Mina Ryten, Sonja W Scholz, Bryan J Traynor, Nigel M Williams, Michele Tao-Ming Hu, Yoav Ben-Shlomo, Donald G Grosset, John A Hardy, Huw R Morris, null null
Investigation of the genetic aetiology of Lewy body diseases with and without dementia. medRxiv : the preprint server for health sciences (2023)
Louise A Huuki-Myers, Abby Spangler, Nicholas J Eagles, Kelsey D Montgomery, Sang Ho Kwon, Bo-Yi Guo, Melissa Grant-Peters, Heena R Divecha, Madhavi Tippani, Chaichontat Sriworarat, Annie B Nguyen, Prashanthi Ravichandran, Matthew Nguyen Tran, Arta Seyedian, null null, Thomas M Hyde, Joel E Kleinman, Alexis J Battle, Stephanie Cerceo Page, Mina Ryten, Stephanie C Hicks, Keri Martinowich, Leonardo Collado-Torres, Kristen R Maynard
Integrated single cell and unsupervised spatial transcriptomic analysis defines molecular anatomy of the human dorsolateral prefrontal cortex. bioRxiv : the preprint server for biology (2023)
Sonia Garcia-Ruiz, Regina Hertfelder Reynolds, Melissa Grant-Peters, Emil Karl Gustavsson, Aine Fairbrother-Browne, Zhongbo Chen, Jonathan William Brenton, Mina Ryten
aws-s3-integrity-check: an open-source bash tool to verify the integrity of a dataset stored on Amazon S3. GigaByte (Hong Kong, China) 2023 (2023)
Regina Hertfelder Reynolds, Aaron Z Wagen, Frida Lona-Durazo, Sonja W Scholz, Maryam Shoai, John Hardy, Sarah A Gagliano Taliun, Mina Ryten
Local genetic correlations exist among neurodegenerative and neuropsychiatric diseases. NPJ Parkinson's disease 9 (1) (2023)
Louise A Huuki-Myers, Abby Spangler, Nicholas J Eagles, Kelsey D Montgomery, Sang Ho Kwon, Bo-Yi Guo, Melissa Grant-Peters, Heena R Divecha, Madhavi Tippani, Chaichontat Sriworarat, Annie B Nguyen, Prashanthi Ravichandran, Matthew Nguyen Tran, Arta Seyedian, null null, Thomas M Hyde, Joel E Kleinman, Alexis J Battle, Stephanie Cerceo Page, Mina Ryten, Stephanie C Hicks, Keri Martinowich, Leonardo Collado-Torres, Kristen R Maynard
Integrated single cell and unsupervised spatial transcriptomic analysis defines molecular anatomy of the human dorsolateral prefrontal cortex. bioRxiv : the preprint server for biology (2023)
Frida Lona-Durazo, Regina Hertfelder Reynolds, Sonja W Scholz, Mina Ryten, Sarah A Gagliano Taliun
Regional genetic correlations highlight relationships between neurodegenerative disease loci and the immune system. Communications biology 6 (1) (2023)
Caroline Warly Solsberg, Julie Lake, Vanessa Pitz, Allen Ye Fu, Joseph L Guidubaldi, Caroline Warly Solsberg, Sara Bandres-Ciga, Hampton L Leonard, Jonggeol Jeffrey Kim, Kimberley J Billingsley, Francis P Grenn, Pilar Alvarez Jerez, Chelsea Alvarado, Hirotaka Iwaki, Michael Ta, Dan Vitale, Dena Hernandez, Ali Torkamani, Mina Ryten, John Hardy, null null, Sonja W Scholz, Bryan J Traynor, Clifton L Dalgard, Debra J Ehrlich, Toshiko Tanaka, Luigi Ferruci, Thomas G Beach, Geidy E Serrano, Raquel Real, Huw R Morris, Jinhui Ding, J Raphael Gibbs, Andrew B Singleton, Mike A Nalls, Tushar Bhangale, Cornelis Blauwendraat
Large-scale rare variant burden testing in Parkinson's disease. Brain : a journal of neurology (2023)
Alejandro Martinez Carrasco, Raquel Real, Michael A Lawton, Hirotaka Iwaki, Manuela M X Tan, Lesley Yue Wu, Nigel M Williams, Camille B Carroll, Michele T M Hu, Donald G Grosset, John A Hardy, Mina Ryten, Thomas Foltynie, Yoav Ben-Shlomo, Maryam Shoai, Huw R Morris
Genetic meta-analysis of levodopa induced dyskinesia in Parkinson's disease. medRxiv : the preprint server for health sciences (2023)
Zhongbo Chen, Arianna Tucci, Valentina Cipriani, Emil Karl Gustavsson, Kristina Ibañez, Regina Hertfelder Reynolds, David Zhang, Letizia Vestito, Alejandro Cisterna-García, Siddharth Sethi, Jonathan W Brenton, Sonia García-Ruiz, Aine Fairbrother-Browne, Ana-Luisa Gil-Martinez, null null, John A Hardy, Damian Smedley, Henry Houlden, Juan Botía, Mina Ryten
Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia. Brain : a journal of neurology (2023)
Regina Hertfelder Reynolds, Aaron Z Wagen, Frida Lona-Durazo, Sonja W Scholz, Maryam Shoai, John Hardy, Sarah A Gagliano Taliun, Mina Ryten
Local genetic correlations exist among neurodegenerative and neuropsychiatric diseases. NPJ Parkinson's disease 9 (1) (2023)
Regina Hertfelder Reynolds, Aaron Z Wagen, Frida Lona-Durazo, Sonja W Scholz, Maryam Shoai, John Hardy, Sarah A Gagliano Taliun, Mina Ryten
Local genetic correlations exist among neurodegenerative and neuropsychiatric diseases. NPJ Parkinson's disease 9 (1) (2023)
Sonia Garcia-Ruiz, David Zhang, Emil Karl Gustavsson, G Rocamora-Perez, Melissa Grant-Peters, Aine Fairbrother-Browne, Regina Hertfelder Reynolds, Jonathan William Brenton, Ana Luisa Gil-Martinez, Zhongbo Chen, Donald C Rio, Juan A Botía, Mar Matarin, Leonardo Collado-Torres, Mina Ryten
Splicing accuracy varies across human introns, tissues and age. bioRxiv : the preprint server for biology (2023)
Ahmed M Salih, Maddalena Ardissino, Aaron Z Wagen, Andrew Bard, Liliana Szabo, Mina Ryten, Steffen Erhard Petersen, André Altmann, Zahra Raisi-Estabragh
Genome-Wide Association Study of Pericardial Fat Area in 28 161 UK Biobank Participants. Journal of the American Heart Association (2023)
Louise A Huuki-Myers, Abby Spangler, Nicholas J Eagles, Kelsey D Montgomery, Sang Ho Kwon, Bo-Yi Guo, Melissa Grant-Peters, Heena R Divecha, Madhavi Tippani, Chaichontat Sriworarat, Annie B Nguyen, Prashanthi Ravichandran, Matthew Nguyen Tran, Arta Seyedian, null null, Thomas M Hyde, Joel E Kleinman, Alexis J Battle, Stephanie Cerceo Page, Mina Ryten, Stephanie C Hicks, Keri Martinowich, Leonardo Collado-Torres, Kristen R Maynard
Integrated single cell and unsupervised spatial transcriptomic analysis defines molecular anatomy of the human dorsolateral prefrontal cortex. bioRxiv : the preprint server for biology (2023)
Lynne Krohn, Karl Heilbron, Cornelis Blauwendraat, Regina Hertfelder Reynolds, Eric Yu, Konstantin Senkevich, Uladzislau Rudakou, Mehrdad A Estiar, Emil Karl Gustavsson, Kajsa Brolin, Jennifer A Ruskey, Kathryn Freeman, Farnaz Asayesh, Ruth Chia, Isabelle Arnulf, Michele T M Hu, Jacques Y Montplaisir, Jean-François Gagnon, Alex Desautels, Yves Dauvilliers, Gian Luigi Gigli, Mariarosaria Valente, Francesco Janes, Andrea Bernardini, Birgit Högl, Ambra Stefani, Abubaker Ibrahim, Karel Sonka, David Kemlink, Wolfgang Oertel, Annette Janzen, Giuseppe Plazzi, Francesco Biscarini, Elena Antelmi, Michela Figorilli, Monica Puligheddu, Brit Mollenhauer, Claudia Trenkwalder, Friederike Sixel-Döring, Valérie Cochen De Cock, Christelle Charley Monaca, Anna Heidbreder, Luigi Ferini-Strambi, Femke Dijkstra, Mineke Viaene, Beatriz Abril, Bradley F Boeve, null null, Sonja W Scholz, Mina Ryten, Sara Bandres-Ciga, Alastair J Noyce, Paul Cannon, Lasse Pihlstrøm, Mike A Nalls, Andrew B Singleton, Guy A Rouleau, Ronald B Postuma, Ziv Gan Or
Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects. Nature communications 13 (1) (2022)
Raquel Real, Alejandro Martinez-Carrasco, Regina Hertfelder Reynolds, Michael A Lawton, Manuela M X Tan, Maryam Shoai, Jean-Christophe Corvol, Mina Ryten, Catherine Bresner, Leon Hubbard, Alexis Brice, Suzanne Lesage, Johann Faouzi, Alexis Elbaz, Fanny Artaud, Nigel M Williams, Michele T M Hu, Yoav Ben-Shlomo, Donald G Grosset, John Hardy, Huw R Morris
Association between the LRP1B and APOE loci in the development of Parkinson's disease dementia. Brain : a journal of neurology (2022)
Marc P M Soutar, Daniela Melandri, Benjamin O'Callaghan, Emily Annuario, Amy E Monaghan, Natalie J Welsh, Karishma D'Sa, Sebastian Guelfi, David Zhang, Alan Pittman, Daniah Trabzuni, Anouk H A Verboven, Kylie S Pan, Demis A Kia, Magda Bictash, Sonia Gandhi, Henry Houlden, Mark R Cookson, Nael Nadif Kasri, Nicholas W Wood, Andrew B Singleton, John Hardy, Paul J Whiting, Cornelis Blauwendraat, Alexander J Whitworth, Claudia Manzoni, Mina Ryten, Patrick A Lewis, Alexander J Whitworth
Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson's disease at 16q11.2 and MAPT H1 loci. Brain : a journal of neurology (2022)
Sonia García-Ruiz, Emil Karl Gustavsson, David Zhang, Regina H Reynolds, Zhongbo Chen, Aine Fairbrother-Browne, Ana Luisa Gil-Martínez, Juan A Botia, Leonardo Collado-Torres, Mina Ryten
IntroVerse: a comprehensive database of introns across human tissues. Nucleic acids research (2022)
Siddharth Sethi, David Zhang, Sebastian Guelfi, Zhongbo Chen, Sonia Garcia-Ruiz, Emmanuel O Olagbaju, Mina Ryten, Harpreet Saini, Juan A Botia
Leveraging omic features with F3UTER enables identification of unannotated 3'UTRs for synaptic genes. Nature communications 13 (1) (2022)
Emil Karl Gustavsson, David Zhang, Regina Hertfelder Reynolds, Sonia Garcia-Ruiz, Mina Ryten
ggtranscript: an R package for the visualization and interpretation of transcript isoforms using ggplot2. Bioinformatics (Oxford, England) 38 (15) (2022)
Sara Saez-Atienzar, Sara Bandres-Ciga, Rebekah G Langston, Jonggeol J Kim, Shing Wan Choi, Regina Hertfelder Reynolds, null null, null null, Yevgeniya Abramzon, Ramita Dewan, Sarah Ahmed, John E Landers, Ruth Chia, Mina Ryten, Mark R Cookson, Michael A Nalls, Adriano Chio, Bryan J Traynor
Genetic analysis of amyotrophic lateral sclerosis identifies contributing pathways and cell types. Science advances 7 (3) (2021)
Roberto Simone, Faiza Javad, Warren Emmett, Oscar G Wilkins, Filipa Lourenço Almeida, Natalia Barahona-Torres, Justyna Zareba-Paslawska, Mazdak Ehteramyan, Paola Zuccotti, Angelika Modelska, Kavitha Siva, Gurvir S Virdi, Jamie S Mitchell, Jasmine Harley, Victoria A Kay, Geshanthi Hondhamuni, Daniah Trabzuni, Mina Ryten, Selina Wray, Elisavet Preza, Demis A Kia, Alan M Pittman, Raffaele Ferrari, Claudia Manzoni, Andrew Lees, John A Hardy, Michela A Denti, Alessandro Quattrone, Rickie Patani, Per Svenningsson, Thomas Treharne Warner, Vincent Plagnol, Jernej Ule, Rohan de Silva
MIR-NATs repress MAPT translation and aid proteostasis in neurodegeneration. Nature 594 (7861) (2021)
Aine Fairbrother-Browne, Aminah T Ali, Regina Hertfelder Reynolds, Sonia Garcia-Ruiz, David Zhang, Zhongbo Chen, Mina Ryten, Alan Hodgkinson
Mitochondrial-nuclear cross-talk in the human brain is modulated by cell type and perturbed in neurodegenerative disease. Communications biology 4 (1) (2021)
Ruth Chia, Marya S Sabir, Sara Bandres-Ciga, Sara Saez-Atienzar, Regina Hertfelder Reynolds, Emil Karl Gustavsson, Ronald L Walton, Sarah Ahmed, Coralie Viollet, Jinhui Ding, Mary B Makarious, Mónica Diez-Fairen, Makayla K Portley, Zalak Shah, Yevgeniya Abramzon, Dena G Hernandez, Cornelis Blauwendraat, David J Stone, John Eicher, Laura Parkkinen, Olaf Ansorge, Lorraine Clark, Lawrence S Honig, Karen Marder, Afina Lemstra, Peter St George-Hyslop, Elisabet Londos, Kevin Morgan, Tammaryn Lashley, Thomas T Warner, Zane Jaunmuktane, Douglas Galasko, Isabel Santana, Pentti J Tienari, Liisa Myllykangas, Minna Oinas, Nigel J Cairns, John C Morris, Glenda M Halliday, Vivanna M Van Deerlin, John Q Trojanowski, Maurizio Grassano, Andrea Calvo, Gabriele Mora, Antonio Canosa, Gianluca Floris, Ryan C Bohannan, Francesca Brett, Ziv Gan Or, Joshua T Geiger, Anni Moore, Patrick May, Rejko Krüger, David S Goldstein, Grisel Lopez, Nahid Tayebi, Ellen Sidransky, null null, Lucy Norcliffe-Kaufmann, Jose-Alberto Palma, Horacio Kaufmann, Vikram G Shakkottai, Matthew Perkins, Kathy L Newell, Thomas Gasser, Claudia Schulte, Francesco Landi, Erika Salvi, Daniele Cusi, Eliezer Masliah, Ronald C Kim, Chad A Caraway, Edwin S Monuki, Maura Brunetti, Ted M Dawson, Liana S Rosenthal, Marilyn S Albert, Olga Pletnikova, Juan C Troncoso, Margaret E Flanagan, Qinwen Mao, Eileen H Bigio, Eloy Rodríguez-Rodríguez, Jon Infante, Carmen Lage, Isabel González-Aramburu, Pascual Sánchez Juan, Bernardino Ghetti, Julia Keith, Sandra E Black, Mario Masellis, Ekaterina Rogaeva, Charles Duyckaerts, Alexis Brice, Suzanne Lesage, Georgia Xiromerisiou, Matthew J Barrett, Bension S Tilley, Steve Gentleman, Giancarlo Logroscino, Geidy E Serrano, Thomas G Beach, Ian G McKeith, Alan J Thomas, Johannes Attems, Christopher M Morris, Laura Palmer, Seth Love, Claire Troakes, Safa Al-Sarraj, Angela K Hodges, Dag Aarsland, Gregory Klein, Scott M Kaiser, Randy Woltjer, Pau Pastor, Lynn M Bekris, James B Leverenz, Lilah M Besser, Amanda Kuzma, Alan E Renton, Alison Mary Goate, David A Bennett, Clemens R Scherzer, Huw R Morris, Raffaele Ferrari, Diego Albani, Stuart Pickering-Brown, Kelley Faber, Walter A Kukull, Estrella Morenas-Rodriguez, Alberto Lleó, Juan Fortea, Daniel Alcolea, Jordi Clarimon, Mike A Nalls, Luigi Ferruci, Susan M Resnick, Toshiko Tanaka, Tatiana M Foroud, Neill R Graff-Radford, Zbigniew K Wszolek, Tanis Ferman, Bradley F Boeve, John A Hardy, Eric J Topol, Ali Torkamani, Andrew B Singleton, Mina Ryten, Dennis W Dickson, Adriano Chio, Owen A Ross, Raphael J Gibbs, Clifton L Dalgard, Bryan J Traynor, Sonja W Scholz
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture. Nature genetics 53 (3) (2021)
Zhongbo Chen, David Zhang, Regina Hertfelder Reynolds, Emil Karl Gustavsson, Sonia García-Ruiz, Karishma D'Sa, Aine Fairbrother-Browne, Jana Vandrovcova, null null, John Hardy, Henry Houlden, Sarah A Gagliano Taliun, Juan Botía, Mina Ryten
Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage. Nature communications 12 (1) (2021)
David Zhang, Sebastian Guelfi, Sonia Garcia-Ruiz, Beatrice Costa, Regina Hertfelder Reynolds, Karishma D'Sa, Wenfei Liu, Thomas Courtin, Amy Peterson, Andrew E Jaffe, John A Hardy, Juan A Botía, Leonardo Collado-Torres, Mina Ryten
Incomplete annotation has a disproportionate impact on our understanding of Mendelian and complex neurogenetic disorders. Science advances 6 (24) (2020)