Payam Mohassel

ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 18

Top Venues

medRxiv : the preprint server for health sciences

bioRxiv : the preprint server for biology

Annals of clinical and translational neurology

Nature medicine

National Institutes of Health

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

Affiliation History

National Institutes of Health Jul 01 2014

United States

Clinical Fellow

Publications

A Reghan Foley, Veronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Kristl G Claeys, Luciano Merlini, Giacomo Pietro Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika L Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Tauriņa, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia Hoi Shan Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Silvio Bertini, Francesco Muntoni, Carsten G Bonnemann
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences (2024)
A Reghan Foley, Veronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Kristl G Claeys, Luciano Merlini, Giacomo Pietro Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika L Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Tauriņa, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia Hoi Shan Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Silvio Bertini, Francesco Muntoni, Carsten G Bonnemann
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences (2024)
A Reghan Foley, Veronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Kristl G Claeys, Luciano Merlini, Giacomo Pietro Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika L Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Tauriņa, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia Hoi Shan Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Silvio Bertini, Francesco Muntoni, Carsten G Bonnemann
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences (2024)
A Reghan Foley, Veronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Kristl G Claeys, Luciano Merlini, Giacomo Pietro Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika L Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Tauriņa, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia Hoi Shan Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Silvio Bertini, Francesco Muntoni, Carsten G Bonnemann
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences (2024)
A Reghan Foley, Veronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Kristl G Claeys, Luciano Merlini, Giacomo Pietro Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika L Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Tauriņa, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia Hoi Shan Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Silvio Bertini, Francesco Muntoni, Carsten G Bonnemann
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences (2024)
Payam Mohassel, Jachinta Rooney, Yaqun Zou, Kory Johnson, Gina Norato, Hailey Hearn, Matthew A Nalls, Pomi Yun, Tracy Ogata, Sarah Silverstein, David A Sleboda, Thomas J Roberts, Daniel B Rifkin, Carsten G Bonnemann
Collagen type VI regulates TGFβ bioavailability in skeletal muscle. bioRxiv : the preprint server for biology (2023)
Payam Mohassel, Jachinta Rooney, Yaqun Zou, Kory Johnson, Gina Norato, Hailey Hearn, Matthew A Nalls, Pomi Yun, Tracy Ogata, Sarah Silverstein, David A Sleboda, Thomas J Roberts, Daniel B Rifkin, Carsten G Bonnemann
Collagen type VI regulates TGFβ bioavailability in skeletal muscle. bioRxiv : the preprint server for biology (2023)
Payam Mohassel, Pomi Yun, Safoora Syeda, Abhinandan Batra, Andrew J Bradley, Sandra Donkervoort, Soledad Monges, Julie S Cohen, Doris G Leung, Francina Munell, Carlos Ortez, Angel Sánchez-Montáñez, Peter Karachunski, John Brandsema, Livija Medne, Vinay Chaudhry, Giorgio Tasca, A Reghan Foley, Bjarne Udd, Andrew E Arai, Glenn A Walter, Carsten G Bonnemann
A comprehensive study of skeletal muscle imaging in FHL1-related reducing body myopathy. Annals of clinical and translational neurology (2023)
Payam Mohassel, Jachinta Rooney, Yaqun Zou, Kory Johnson, Gina Norato, Hailey Hearn, Matthew A Nalls, Pomi Yun, Tracy Ogata, Sarah Silverstein, David A Sleboda, Thomas J Roberts, Daniel B Rifkin, Carsten G Bonnemann
Collagen type VI regulates TGFβ bioavailability in skeletal muscle. bioRxiv : the preprint server for biology (2023)
Payam Mohassel, Jachinta Rooney, Yaqun Zou, Kory Johnson, Gina Norato, Hailey Hearn, Matthew A Nalls, Pomi Yun, Tracy Ogata, Sarah Silverstein, David A Sleboda, Thomas J Roberts, Daniel B Rifkin, Carsten G Bonnemann
Collagen type VI regulates TGFβ bioavailability in skeletal muscle. bioRxiv : the preprint server for biology (2023)
Payam Mohassel, Ning Chang, Kaoru Inoue, Angela Delaney, Ying Hu, Sandra Donkervoort, Dimah Saade, B Jeanne Billioux, Brooke Meader, Rita Volochayev, Chamindra G Konersman, Angela M Kaindl, Chie-Hee Cho, Bianca E Russell, Adrian Rodriguez, K Wade Foster, A Reghan Foley, Steven A Moore, Peter L Jones, Carsten G Bonnemann, Takako Jones, Natalie D Shaw
Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants. Neurology 98 (13) (2022)
Payam Mohassel, Eleonora Guadagnin, Carsten G Bonnemann
Attribution of original contribution in large datasets in the era of multi-omic studies. Annals of clinical and translational neurology 9 (6) (2022)
Hong Joo Kim, Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin O'Donovan, Maura Coughlin, Xaviere Lornage, Nicola Foulds, Simon R Hammans, A Reghan Foley, Charlotte M Fare, Alice F Ford, Masashi Ogasawara, Aki Sato, Aritoshi Iida, Pinki Munot, Gautam Ambegaonkar, Rahul Phadke, Dominic G O'Donovan, Rebecca Buchert, Mona Grimmel, Ana Töpf, Irina T Zaharieva, Lauren Brady, Ying Hu, Thomas E Lloyd, Andrea Klein, Maja Steinlin, Alice Kuster, Sandra Mercier, Pascale Marcorelles, Yann Péréon, Emmanuelle Fleurence, Adnan Manzur, Sarah Ennis, Rosanna Upstill-Goddard, Luca Bello, Cinzia Bertolin, Elena Pegoraro, Leonardo Salviati, Courtney E French, Andriy Shatillo, F Lucy Raymond, Tobias B Haack, Susana Quijano-Roy, Johann Böhm, Isabelle Nelson, Tanya Stojkovic, Teresinha Evangelista, Volker Straub, Norma B Romero, Jocelyn Laporte, Francesco Muntoni, Ichizo Nishino, Mark A Tarnopolsky, James Shorter, Carsten G Bonnemann, J Paul Taylor
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy. Nature communications 13 (1) (2022)
Heike Kölbel, Florian Kraft, Andreas Hentschel, Artur Czech, Andrea Gangfuß, Payam Mohassel, Chi Nguyen, Werner Stenzel, Ulrike Schara-Schmidt, Corinna Preuße, Andreas Roos
New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1. Genes 13 (5) (2022)
Payam Mohassel, Sandra Donkervoort, Museer A Lone, Matthew Nalls, Kenneth Gable, Sita D Gupta, A Reghan Foley, Ying Hu, Jonas Alex Morales Saute, Ana Lucila Moreira, Fernando Kok, Alessandro Introna, Giancarlo Logroscino, Christopher Grunseich, Alec R Nickolls, Naemeh Pourshafie, Sarah B Neuhaus, Dimah Saade, Andrea Gangfuß, Heike Kölbel, Zoe Piccus, Claire E Le Pichon, Chiara Fiorillo, Cindy V Ly, Ana Töpf, Lauren Brady, Sabine Specht, Aliza Zidell, Helio Pedro, Eric Mittelmann, Florian Patrick Thomas, Katherine R Chao, Chamindra G Konersman, Megan T Cho, Tracy Brandt, Volker Straub, Anne M Connolly, Ulrike Schara, Andreas Roos, Mark Tarnopolsky, Ahmet Hoke, Robert H Brown, Chia-Hsueh Lee, Thorsten Hornemann, Teresa M Dunn, Carsten G Bonnemann
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis. Nature medicine 27 (7) (2021)
Eleonora Guadagnin, Payam Mohassel, Kory R Johnson, Lin Yang, Mariarita Santi, Prech Uapinyoying, Jahannaz Dastgir, Ying Hu, Allissa Dillmann, Mark R Cookson, A Reghan Foley, Carsten G Bönnemann
Transcriptome analysis of collagen VI-related muscular dystrophy muscle biopsies. Annals of clinical and translational neurology 8 (11) (2021)
Payam Mohassel, Teerin Liewluck, Ying Hu, Daniel Ezzo, Tracy Ogata, Dimah Saade, Sarah Neuhaus, Véronique Bolduc, Yaqun Zou, Sandra Donkervoort, Livija Medne, Charlotte J Sumner, P James B Dyck, Klaas J Wierenga, Gihan Tennekoon, Richard S Finkel, Jiani Chen, Thomas L Winder, Nathan P Staff, A Reghan Foley, Manuel Koch, Carsten G Bönnemann
Dominant collagen XII mutations cause a distal myopathy. Annals of clinical and translational neurology 6 (10) (2019)
Pejman Mohammadi, Stephane E Castel, Beryl B Cummings, Jonah Einson, Christina Sousa, Paul J Hoffman, Sandra Donkervoort, Zhuoxun Jiang, Payam Mohassel, A Reghan Foley, Heather E Wheeler, Hae Kyung Im, Carsten G Bonnemann, Daniel G MacArthur, Tuuli Lappalainen
Genetic regulatory variation in populations informs transcriptome analysis in rare disease. Science (New York, N.Y.) 366 (6463) (2019)

Payam Mohassel.css-eqlu8i{font-size:small;padding-left:4px;}

Publication Activity (10 Years)

Top Topics

Top Venues

Payam Mohassel