Monkol Lek

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 21

Top Topics

Dna Methylation

Regulatory T Cells

Duchenne Muscular Dystrophy

Top Venues

Disease models & mechanisms

medRxiv : the preprint server for health sciences

Nature communications

NPJ genomic medicine

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

Publications

Chao Zhang, Michael Rehman, Xin Tian, Steven Lim Cho Pei, Jianlei Gu, Thomas A Bell, Ke Dong, Ming Shen Tham, Yiqiang Cai, Zemeng Wei, Felix Behrens, Anton M Jetten, Hongyu Zhao, Monkol Lek, Stefan Somlo
Glis2 is an early effector of polycystin signaling and a target for therapy in polycystic kidney disease. Nature communications 15 (1) (2024)
Kaiyue Ma, Logan O Gauthier, Frances Cheung, Shushu Huang, Monkol Lek
High-throughput assays to assess variant effects on disease. Disease models & mechanisms 17 (6) (2024)
Kirsty M Hooper, Monica J Justice, Monkol Lek, Karen J Liu, Katherine A Rauen
Translating multiscale research in rare disease. Disease models & mechanisms 17 (6) (2024)
Chao Zhang, Michael Rehman, Xin Tian, Steven Lim Cho Pei, Jianlei Gu, Thomas A Bell, Ke Dong, Ming Shen Tham, Yiqiang Cai, Zemeng Wei, Felix Behrens, Anton M Jetten, Hongyu Zhao, Monkol Lek, Stefan Somlo
Glis2 is an early effector of polycystin signaling and a target for therapy in polycystic kidney disease. Nature communications 15 (1) (2024)
Kaiyue Ma, Logan O Gauthier, Frances Cheung, Shushu Huang, Monkol Lek
High-throughput assays to assess variant effects on disease. Disease models & mechanisms 17 (6) (2024)
Kaiyue Ma, Logan O Gauthier, Frances Cheung, Shushu Huang, Monkol Lek
High-throughput assays to assess variant effects on disease. Disease models & mechanisms 17 (6) (2024)
Kaiyue Ma, Logan O Gauthier, Frances Cheung, Shushu Huang, Monkol Lek
High-throughput assays to assess variant effects on disease. Disease models & mechanisms 17 (6) (2024)
Kirsty M Hooper, Monica J Justice, Monkol Lek, Karen J Liu, Katherine A Rauen
Translating multiscale research in rare disease. Disease models & mechanisms 17 (6) (2024)
Kirsty M Hooper, Monica J Justice, Monkol Lek, Karen J Liu, Katherine A Rauen
Translating multiscale research in rare disease. Disease models & mechanisms 17 (6) (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)
Chao Zhang, Michael Rehman, Xin Tian, Steven Lim Cho Pei, Jianlei Gu, Thomas A Bell, Ke Dong, Ming Shen Tham, Yiqiang Cai, Zemeng Wei, Felix Behrens, Anton M Jetten, Hongyu Zhao, Monkol Lek, Stefan Somlo
Glis2 is an early effector of polycystin signaling and a target for therapy in polycystic kidney disease. Nature communications 15 (1) (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)
Chao Zhang, Michael Rehman, Xin Tian, Steven Lim Cho Pei, Jianlei Gu, Thomas A Bell, Ke Dong, Ming Shen Tham, Yiqiang Cai, Zemeng Wei, Felix Behrens, Anton M Jetten, Hongyu Zhao, Monkol Lek, Stefan Somlo
Glis2 is an early effector of polycystin signaling and a target for therapy in polycystic kidney disease. Nature communications 15 (1) (2024)
Alan P Tenney, Silvio Alessandro Di Gioia, Bryn D Webb, Wai-Man Chan, Elke de Boer, Sarah J Garnai, Brenda J Barry, Tammy Ray, Michael Kosicki, Caroline D Robson, Zhongyang Zhang, Thomas E Collins, Alon Gelber, Brandon M Pratt, Yuko Fujiwara, Arushi Varshney, Monkol Lek, Peter E Warburton, Carol Van Ryzin, Tanya J Lehky, Christopher Zalewski, Kelly A King, Carmen C Brewer, Audrey Thurm, Joseph Snow, Flavia M Facio, Narisu Narisu, Lori L Bonnycastle, Amy Swift, Peter S Chines, Jessica L Bell, Suresh Mohan, Mary C Whitman, Sandra E Staffieri, James E Elder, Joseph L Demer, Alcy Torres, Elza Rachid, Christiane Al-Haddad, Rose-Mary N Boustany, David A Mackey, Angela F Brady, María Fenollar-Cortés, Melanie Fradin, Tjitske Kleefstra, George W Padberg, Salmo Raskin, Mario Teruo Sato, Stuart H Orkin, Stephen C J Parker, Tessa A Hadlock, Lisenka E L M Vissers, Hans van Bokhoven, Ethylin Wang Jabs, Francis S Collins, Len A Pennacchio, Irini Manoli, Elizabeth C Engle
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis. Nature genetics (2023)
Yun Soo Hong, Stephanie L Battle, Wen Shi, Daniela Puiu, Vamsee Pillalamarri, Jiaqi Xie, Nathan D Pankratz, Nicole J Lake, Monkol Lek, Jerome I Rotter, Stephen S Rich, Charles Kooperberg, Alexander P Reiner, Paul L Auer, Nancy Heard- Costa, Chunyu Liu, Meng Lai, Joanne M Murabito, Daniel Levy, Megan L Grove, Alvaro Alonso, Richard Gibbs, Shannon Dugan-Perez, Lukasz P Gondek, Eliseo Guallar, Dan E Arking
Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortality. Nature communications 14 (1) (2023)
Kaiyue Ma, Kenneth K Ng, Shushu Huang, Nicole J Lake, Jenny Xu, Lin Ge, Keryn G Woodman, Katherine E Koczwara, Angela Lek, Monkol Lek
Deep Mutational Scanning in Rare Disease-related Genes with Saturation Mutagenesis-Reinforced Functional Assays (SMuRF). bioRxiv : the preprint server for biology (2023)
Jasmine L F Fung, Mullin H C Yu, Shushu Huang, Claudia C Y Chung, Marcus C Y Chan, Sander Pajusalu, Christopher C Y Mak, Vivian C C Hui, Mandy H Y Tsang, Kit San Yeung, Monkol Lek, Brian Hon-Yin Chung
A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis. NPJ genomic medicine 5 (2020)
Jasmine L F Fung, Mullin H C Yu, Shushu Huang, Claudia C Y Chung, Marcus C Y Chan, Sander Pajusalu, Christopher C Y Mak, Vivian C C Hui, Mandy H Y Tsang, Kit San Yeung, Monkol Lek, Brian Hon-Yin Chung
A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis. NPJ genomic medicine 5 (1) (2020)