Martin Man Chun Chui (Martin M C Chui, Martin Man-Chun Chui)

Publication Activity (10 Years)

Years Active: 2022-2024
Publications (10 Years): 10

Top Topics

Congenital Heart Disease

Top Venues

NPJ genomic medicine

medRxiv : the preprint server for health sciences

Journal of the American Heart Association

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

Publications

Francesca Magrinelli, Christelle Tesson, Plamena R Angelova, Ainara Salazar-Villacorta, Jose A Rodriguez, Annarita Scardamaglia, Brian Hon-Yin Chung, Matthew Jaconelli, Barbara Vona, Noemí Esteras, Anna Ka-Yee Kwong, Thomas Courtin, Reza Maroofian, Shahryar Alavi, Raja S Nirujogi, Mariasavina Severino, Patrick A Lewis, Stephanie Efthymiou, Benjamin J O'Callaghan, Rebecca Buchert, Linda Sofan, Pawel Lis, Chloé Pinon, Guido J Breedveld, Martin Man Chun Chui, David P Murphy, Vanessa Pitz, Mary B Makarious, Marlene Cassar, Bassem A Hassan, Sana Iftikhar, Clarissa Rocca, Peter Bauer, Michele Tinazzi, Marina Svetel, Bedia Samanci, Hasmet A Hanagasi, Basar Bilgiç, Jose A Obeso, Mónica M Kurtis, Guillaume Cogan, Ayse Nazli Basak, Güneş Kiziltan, Tuğçe Gül, Gül Yalçın Çakmaklı, Bülent Elibol, Nina Barisic, Earny Wei-Sen Ng, Sze-Shing Fan, Tova Hershkovitz, Karin Weiss, Javeria Raza Alvi, Tipu Sultan, Issam Azmi Alkhawaja, Tawfiq Froukh, Hadeel Abdollah E Alrukban, Christine Fauth, Ulrich A Schatz, Thomas Zöggeler, Michael Zech, Karen L Stals, Vinod C Varghese, Sonia Gandhi, Cornelis Blauwendraat, John A Hardy, Suzanne Lesage, Vincenzo Bonifati, Tobias B Haack, Aida Maria Bertoli-Avella, Robert Steinfeld, Dario R Alessi, Hermann Steller, Alexis Brice, Andrey Y Abramov, Kailash P Bhatia, Henry Houlden
PSMF1 variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways. medRxiv : the preprint server for health sciences (2024)
Francesca Magrinelli, Christelle Tesson, Plamena R Angelova, Ainara Salazar-Villacorta, Jose A Rodriguez, Annarita Scardamaglia, Brian Hon-Yin Chung, Matthew Jaconelli, Barbara Vona, Noemí Esteras, Anna Ka-Yee Kwong, Thomas Courtin, Reza Maroofian, Shahryar Alavi, Raja S Nirujogi, Mariasavina Severino, Patrick A Lewis, Stephanie Efthymiou, Benjamin J O'Callaghan, Rebecca Buchert, Linda Sofan, Pawel Lis, Chloé Pinon, Guido J Breedveld, Martin Man Chun Chui, David P Murphy, Vanessa Pitz, Mary B Makarious, Marlene Cassar, Bassem A Hassan, Sana Iftikhar, Clarissa Rocca, Peter Bauer, Michele Tinazzi, Marina Svetel, Bedia Samanci, Hasmet A Hanagasi, Basar Bilgiç, Jose A Obeso, Mónica M Kurtis, Guillaume Cogan, Ayse Nazli Basak, Güneş Kiziltan, Tuğçe Gül, Gül Yalçın Çakmaklı, Bülent Elibol, Nina Barisic, Earny Wei-Sen Ng, Sze-Shing Fan, Tova Hershkovitz, Karin Weiss, Javeria Raza Alvi, Tipu Sultan, Issam Azmi Alkhawaja, Tawfiq Froukh, Hadeel Abdollah E Alrukban, Christine Fauth, Ulrich A Schatz, Thomas Zöggeler, Michael Zech, Karen L Stals, Vinod C Varghese, Sonia Gandhi, Cornelis Blauwendraat, John A Hardy, Suzanne Lesage, Vincenzo Bonifati, Tobias B Haack, Aida Maria Bertoli-Avella, Robert Steinfeld, Dario R Alessi, Hermann Steller, Alexis Brice, Andrey Y Abramov, Kailash P Bhatia, Henry Houlden
PSMF1 variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways. medRxiv : the preprint server for health sciences (2024)
Francesca Magrinelli, Christelle Tesson, Plamena R Angelova, Ainara Salazar-Villacorta, Jose A Rodriguez, Annarita Scardamaglia, Brian Hon-Yin Chung, Matthew Jaconelli, Barbara Vona, Noemí Esteras, Anna Ka-Yee Kwong, Thomas Courtin, Reza Maroofian, Shahryar Alavi, Raja S Nirujogi, Mariasavina Severino, Patrick A Lewis, Stephanie Efthymiou, Benjamin J O'Callaghan, Rebecca Buchert, Linda Sofan, Pawel Lis, Chloé Pinon, Guido J Breedveld, Martin Man Chun Chui, David P Murphy, Vanessa Pitz, Mary B Makarious, Marlene Cassar, Bassem A Hassan, Sana Iftikhar, Clarissa Rocca, Peter Bauer, Michele Tinazzi, Marina Svetel, Bedia Samanci, Hasmet A Hanagasi, Basar Bilgiç, Jose A Obeso, Mónica M Kurtis, Guillaume Cogan, Ayse Nazli Basak, Güneş Kiziltan, Tuğçe Gül, Gül Yalçın Çakmaklı, Bülent Elibol, Nina Barisic, Earny Wei-Sen Ng, Sze-Shing Fan, Tova Hershkovitz, Karin Weiss, Javeria Raza Alvi, Tipu Sultan, Issam Azmi Alkhawaja, Tawfiq Froukh, Hadeel Abdollah E Alrukban, Christine Fauth, Ulrich A Schatz, Thomas Zöggeler, Michael Zech, Karen L Stals, Vinod C Varghese, Sonia Gandhi, Cornelis Blauwendraat, John A Hardy, Suzanne Lesage, Vincenzo Bonifati, Tobias B Haack, Aida Maria Bertoli-Avella, Robert Steinfeld, Dario R Alessi, Hermann Steller, Alexis Brice, Andrey Y Abramov, Kailash P Bhatia, Henry Houlden
PSMF1 variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways. medRxiv : the preprint server for health sciences (2024)
Martin Man Chun Chui, Christopher C Y Mak, Mullin H C Yu, Sandra Y Y Wong, Kin-Shing Lun, Tak-Cheung Yung, Anna Ka-Yee Kwong, Pak-Cheong Chow, Brian Hon-Yin Chung
Evaluating High-Confidence Genes in Conotruncal Cardiac Defects by Gene Burden Analyses. Journal of the American Heart Association (2023)
Martin Man Chun Chui, Christopher C Y Mak, Mullin H C Yu, Sandra Y Y Wong, Kin-Shing Lun, Tak-Cheung Yung, Anna Ka-Yee Kwong, Pak-Cheong Chow, Brian Hon-Yin Chung
Evaluating High-Confidence Genes in Conotruncal Cardiac Defects by Gene Burden Analyses. Journal of the American Heart Association 12 (4) (2023)
Martin Man Chun Chui, Christopher C Y Mak, Mullin H C Yu, Sandra Y Y Wong, Kin-Shing Lun, Tak-Cheung Yung, Anna Ka-Yee Kwong, Pak-Cheong Chow, Brian Hon-Yin Chung
Evaluating High-Confidence Genes in Conotruncal Cardiac Defects by Gene Burden Analyses. Journal of the American Heart Association 12 (4) (2023)
Mianne Lee, Anna K Y Kwong, Martin Man Chun Chui, Jeffrey F T Chau, Christopher Chun Yu Mak, Sandy L K Au, Hei Man Lo, Kelvin Y K Chan, Vicente A Yépez, Julien Gagneur, Anita Sik Yau Kan, Brian Hon-Yin Chung
Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept. NPJ genomic medicine 7 (1) (2022)
Mianne Lee, Anna K Y Kwong, Martin Man Chun Chui, Jeffrey F T Chau, Christopher Chun Yu Mak, Sandy L K Au, Hei Man Lo, Kelvin Y K Chan, Vicente A Yépez, Julien Gagneur, Anita Sik Yau Kan, Brian Hon-Yin Chung
Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept. NPJ genomic medicine 7 (1) (2022)
Jeffrey Fong Ting Chau, Mullin Ho Chung Yu, Martin Man Chun Chui, Cyrus Chun Wing Yeung, Aaron Wing Cheung Kwok, Xuehan Zhuang, Ryan Lee, Jasmine Lee Fong Fung, Mianne Lee, Christopher Chun Yu Mak, Nicole Ying Ting Ng, Claudia Ching Yan Chung, Marcus Chun Yin Chan, Mandy Ho Yin Tsang, Joshua Chun Ki Chan, Kelvin Yuen Kwong Chan, Anita Sik Yau Kan, Patrick Ho Yu Chung, Wanling Yang, So Lun Lee, Godfrey Chi Fung Chan, Paul Kwong Hang Tam, Yu Lung Lau, Kit San Yeung, Brian Hon-Yin Chung, Clara Sze Man Tang
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese. NPJ genomic medicine 7 (1) (2022)
Mianne Lee, Anna K Y Kwong, Martin Man Chun Chui, Jeffrey F T Chau, Christopher Chun Yu Mak, Sandy L K Au, Hei Man Lo, Kelvin Y K Chan, Vicente A Yépez, Julien Gagneur, Anita Sik Yau Kan, Brian Hon-Yin Chung
Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept. NPJ genomic medicine 7 (1) (2022)