Brian Hon-Yin Chung (Brian H Y Chung, Brian Hon Yin Chung, Brian Chung, Brian Hy Chung, B H Y Chung, Brian H-Y Chung, Brian H Chung)

ResearcherID Scopus Author ID HKU ResearcherPage ORCID

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 52

Top Topics

Autism Spectrum Disorder

Atopic Dermatitis

Muscular Dystrophy

Top Venues

NPJ genomic medicine

American journal of medical genetics. Part A

The Journal of experimental medicine

Orphanet journal of rare diseases

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

Publications

Nicole Y T Ng, Jie V Zhao, Christopher C Y Mak, So Lun Lee, Brian Hon-Yin Chung
Asthma subtypes and risk of cardiovascular disease: A Mendelian randomization study. Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 34 (7) (2023)
Mehul Sharma, Daniel Leung, Mana Momenilandi, Lauren C W Jones, Lucia Pacillo, Alyssa E James, Jill R Murrell, Selket Delafontaine, Jesmeen Maimaris, Maryam Vaseghi-Shanjani, Kate L Del Bel, Henry Y Lu, Gilbert T Chua, Silvia Di Cesare, Oriol Fornes, Zhongyi Liu, Gigliola Di Matteo, Maggie P Fu, Donato Amodio, Issan Yee San Tam, Gavin Shueng Wai Chan, Ashish A Sharma, Joshua Dalmann, Robin van der Lee, Geraldine Blanchard-Rohner, Susan Lin, Quentin Philippot, Phillip Andrew Richmond, Jessica J Lee, Allison Matthews, Michael Seear, Alexandra K Turvey, Rachael L Philips, Terri F Brown-Whitehorn, Christopher J Gray, Kosuke Izumi, James R Treat, Kathleen H Wood, Justin Lack, Asya Khleborodova, Julie E Niemela, Xingtian Yang, Rui Liang, Lin Kui, Christina Sze-Man Wong, Grace Wing Kit Poon, Alexander Hoischen, Caspar I van der Made, Jing Yang, Koon Wing Chan, Jaime Sou Da Rosa Duque, Pamela Pui-Wah Lee, Marco Hok Kung Ho, Brian Hon-Yin Chung, Huong Thi Minh Le, Wanling Yang, Pejman Rohani, Ali Fouladvand, Hassan Rokni-Zadeh, Majid Changi-Ashtiani, Mohammad Miryounesi, Anne Puel, Mohammad Shahrooei, Andrea Finocchi, Paolo Rossi, Beatrice Rivalta, Cristina Cifaldi, Antonio Novelli, Chiara Passarelli, Stefania Arasi, Dominique M A Bullens, Kate Sauer, Tania Claeys, Catherine M Biggs, Emma Catherine Morris, Sergio D Rosenzweig, John J O'Shea, Wyeth W Wasserman, H Melanie Bedford, Clara D M van Karnebeek, Paolo Palma, Siobhan O Burns, Isabelle Meyts, Jean Laurent Casanova, Jonathan J Lyons, Nima Parvaneh, Anh Thi Van Nguyen, Caterina Cancrini, Jennifer Heimall, Hanan Ahmed, Margaret L McKinnon, Yu-Lung Lau, Vivien Béziat, Suzanne C Tough
Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease. The Journal of experimental medicine 220 (5) (2023)
Juliane Münch, Jannik Prasuhn, Lucia Laugwitz, Cheuk-Wing Fung, Brian Hon-Yin Chung, Marcello Bellusci, Felix Distelmaier, Dirk Klee, Felix Distelmaier
Neuroimaging in Primary Coenzyme-Q 10 -Deficiency Disorders. Antioxidants (Basel, Switzerland) 12 (3) (2023)
Otto C H Tam, Ronnie S L Ho, Shing Chan, Kay K W Li, Tit-Leung Lam, Elaine T Y Cheung, Oi-Yee Cheung, Wilson W S Ho, Kevin K F Cheng, Matthew M K Shing, Dennis T L Ku, Brian Hon-Yin Chung, Wanling Yang, Godfrey C F Chan, Ho-Keung Ng, Anthony Pak-Yin Liu
Genome-Wide DNA Methylation Profiling as Frontline Diagnostics for Central Nervous System Embryonal Tumors in Hong Kong. Cancers 15 (19) (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 (2023)
Mehul Sharma, Daniel Leung, Mana Momenilandi, Lauren C W Jones, Lucia Pacillo, Alyssa E James, Jill R Murrell, Selket Delafontaine, Jesmeen Maimaris, Maryam Vaseghi-Shanjani, Kate L Del Bel, Henry Y Lu, Gilbert T Chua, Silvia Di Cesare, Oriol Fornes, Zhongyi Liu, Gigliola Di Matteo, Maggie P Fu, Donato Amodio, Issan Yee San Tam, Gavin Shueng Wai Chan, Ashish A Sharma, Joshua Dalmann, Robin van der Lee, Geraldine Blanchard-Rohner, Susan Lin, Quentin Philippot, Phillip Andrew Richmond, Jessica J Lee, Allison Matthews, Michael Seear, Alexandra K Turvey, Rachael L Philips, Terri F Brown-Whitehorn, Christopher J Gray, Kosuke Izumi, James R Treat, Kathleen H Wood, Justin Lack, Asya Khleborodova, Julie E Niemela, Xingtian Yang, Rui Liang, Lin Kui, Christina Sze-Man Wong, Grace Wing Kit Poon, Alexander Hoischen, Caspar I van der Made, Jing Yang, Koon Wing Chan, Jaime Sou Da Rosa Duque, Pamela Pui-Wah Lee, Marco Hok Kung Ho, Brian Hon-Yin Chung, Huong Thi Minh Le, Wanling Yang, Pejman Rohani, Ali Fouladvand, Hassan Rokni-Zadeh, Majid Changi-Ashtiani, Mohammad Miryounesi, Anne Puel, Mohammad Shahrooei, Andrea Finocchi, Paolo Rossi, Beatrice Rivalta, Cristina Cifaldi, Antonio Novelli, Chiara Passarelli, Stefania Arasi, Dominique M A Bullens, Kate Sauer, Tania Claeys, Catherine M Biggs, Emma Catherine Morris, Sergio D Rosenzweig, John J O'Shea, Wyeth W Wasserman, H Melanie Bedford, Clara D M van Karnebeek, Paolo Palma, Siobhan O Burns, Isabelle Meyts, Jean Laurent Casanova, Jonathan J Lyons, Nima Parvaneh, Anh Thi Van Nguyen, Caterina Cancrini, Jennifer Heimall, Hanan Ahmed, Margaret L McKinnon, Yu-Lung Lau, Vivien Béziat, Suzanne C Tough
Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease. The Journal of experimental medicine 220 (5) (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)
Mehul Sharma, Daniel Leung, Mana Momenilandi, Lauren C W Jones, Lucia Pacillo, Alyssa E James, Jill R Murrell, Selket Delafontaine, Jesmeen Maimaris, Maryam Vaseghi-Shanjani, Kate L Del Bel, Henry Y Lu, Gilbert T Chua, Silvia Di Cesare, Oriol Fornes, Zhongyi Liu, Gigliola Di Matteo, Maggie P Fu, Donato Amodio, Issan Yee San Tam, Gavin Shueng Wai Chan, Ashish A Sharma, Joshua Dalmann, Robin van der Lee, Geraldine Blanchard-Rohner, Susan Lin, Quentin Philippot, Phillip Andrew Richmond, Jessica J Lee, Allison Matthews, Michael Seear, Alexandra K Turvey, Rachael L Philips, Terri F Brown-Whitehorn, Christopher J Gray, Kosuke Izumi, James R Treat, Kathleen H Wood, Justin Lack, Asya Khleborodova, Julie E Niemela, Xingtian Yang, Rui Liang, Lin Kui, Christina Sze-Man Wong, Grace Wing Kit Poon, Alexander Hoischen, Caspar I van der Made, Jing Yang, Koon Wing Chan, Jaime Sou Da Rosa Duque, Pamela Pui-Wah Lee, Marco Hok Kung Ho, Brian Hon-Yin Chung, Huong Thi Minh Le, Wanling Yang, Pejman Rohani, Ali Fouladvand, Hassan Rokni-Zadeh, Majid Changi-Ashtiani, Mohammad Miryounesi, Anne Puel, Mohammad Shahrooei, Andrea Finocchi, Paolo Rossi, Beatrice Rivalta, Cristina Cifaldi, Antonio Novelli, Chiara Passarelli, Stefania Arasi, Dominique M A Bullens, Kate Sauer, Tania Claeys, Catherine M Biggs, Emma Catherine Morris, Sergio D Rosenzweig, John J O'Shea, Wyeth W Wasserman, H Melanie Bedford, Clara D M van Karnebeek, Paolo Palma, Siobhan O Burns, Isabelle Meyts, Jean Laurent Casanova, Jonathan J Lyons, Nima Parvaneh, Anh Thi Van Nguyen, Caterina Cancrini, Jennifer Heimall, Hanan Ahmed, Margaret L McKinnon, Yu-Lung Lau, Vivien Béziat, Suzanne C Tough
Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease. The Journal of experimental medicine 220 (5) (2023)
Mehul Sharma, Daniel Leung, Mana Momenilandi, Lauren C W Jones, Lucia Pacillo, Alyssa E James, Jill R Murrell, Selket Delafontaine, Jesmeen Maimaris, Maryam Vaseghi-Shanjani, Kate L Del Bel, Henry Y Lu, Gilbert T Chua, Silvia Di Cesare, Oriol Fornes, Zhongyi Liu, Gigliola Di Matteo, Maggie P Fu, Donato Amodio, Issan Yee San Tam, Gavin Shueng Wai Chan, Ashish A Sharma, Joshua Dalmann, Robin van der Lee, Geraldine Blanchard-Rohner, Susan Lin, Quentin Philippot, Phillip Andrew Richmond, Jessica J Lee, Allison Matthews, Michael Seear, Alexandra K Turvey, Rachael L Philips, Terri F Brown-Whitehorn, Christopher J Gray, Kosuke Izumi, James R Treat, Kathleen H Wood, Justin Lack, Asya Khleborodova, Julie E Niemela, Xingtian Yang, Rui Liang, Lin Kui, Christina Sze-Man Wong, Grace Wing Kit Poon, Alexander Hoischen, Caspar I van der Made, Jing Yang, Koon Wing Chan, Jaime Sou Da Rosa Duque, Pamela Pui-Wah Lee, Marco Hok Kung Ho, Brian Hon-Yin Chung, Huong Thi Minh Le, Wanling Yang, Pejman Rohani, Ali Fouladvand, Hassan Rokni-Zadeh, Majid Changi-Ashtiani, Mohammad Miryounesi, Anne Puel, Mohammad Shahrooei, Andrea Finocchi, Paolo Rossi, Beatrice Rivalta, Cristina Cifaldi, Antonio Novelli, Chiara Passarelli, Stefania Arasi, Dominique M A Bullens, Kate Sauer, Tania Claeys, Catherine M Biggs, Emma Catherine Morris, Sergio D Rosenzweig, John J O'Shea, Wyeth W Wasserman, H Melanie Bedford, Clara D M van Karnebeek, Paolo Palma, Siobhan O Burns, Isabelle Meyts, Jean Laurent Casanova, Jonathan J Lyons, Nima Parvaneh, Anh Thi Van Nguyen, Caterina Cancrini, Jennifer Heimall, Hanan Ahmed, Margaret L McKinnon, Yu-Lung Lau, Vivien Béziat, Suzanne C Tough
Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease. The Journal of experimental medicine 220 (5) (2023)
Mehul Sharma, Daniel Leung, Mana Momenilandi, Lauren C W Jones, Lucia Pacillo, Alyssa E James, Jill R Murrell, Selket Delafontaine, Jesmeen Maimaris, Maryam Vaseghi-Shanjani, Kate L Del Bel, Henry Y Lu, Gilbert T Chua, Silvia Di Cesare, Oriol Fornes, Zhongyi Liu, Gigliola Di Matteo, Maggie P Fu, Donato Amodio, Issan Yee San Tam, Gavin Shueng Wai Chan, Ashish A Sharma, Joshua Dalmann, Robin van der Lee, Geraldine Blanchard-Rohner, Susan Lin, Quentin Philippot, Phillip Andrew Richmond, Jessica J Lee, Allison Matthews, Michael Seear, Alexandra K Turvey, Rachael L Philips, Terri F Brown-Whitehorn, Christopher J Gray, Kosuke Izumi, James R Treat, Kathleen H Wood, Justin Lack, Asya Khleborodova, Julie E Niemela, Xingtian Yang, Rui Liang, Lin Kui, Christina Sze-Man Wong, Grace Wing Kit Poon, Alexander Hoischen, Caspar I van der Made, Jing Yang, Koon Wing Chan, Jaime Sou Da Rosa Duque, Pamela Pui-Wah Lee, Marco Hok Kung Ho, Brian Hon-Yin Chung, Huong Thi Minh Le, Wanling Yang, Pejman Rohani, Ali Fouladvand, Hassan Rokni-Zadeh, Majid Changi-Ashtiani, Mohammad Miryounesi, Anne Puel, Mohammad Shahrooei, Andrea Finocchi, Paolo Rossi, Beatrice Rivalta, Cristina Cifaldi, Antonio Novelli, Chiara Passarelli, Stefania Arasi, Dominique M A Bullens, Kate Sauer, Tania Claeys, Catherine M Biggs, Emma Catherine Morris, Sergio D Rosenzweig, John J O'Shea, Wyeth W Wasserman, H Melanie Bedford, Clara D M van Karnebeek, Paolo Palma, Siobhan O Burns, Isabelle Meyts, Jean Laurent Casanova, Jonathan J Lyons, Nima Parvaneh, Anh Thi Van Nguyen, Caterina Cancrini, Jennifer Heimall, Hanan Ahmed, Margaret L McKinnon, Yu-Lung Lau, Vivien Béziat, Suzanne C Tough
Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease. The Journal of experimental medicine 220 (5) (2023)
Juliane Münch, Jannik Prasuhn, Lucia Laugwitz, Cheuk-Wing Fung, Brian Hon-Yin Chung, Marcello Bellusci, Felix Distelmaier, Dirk Klee, Felix Distelmaier
Neuroimaging in Primary Coenzyme-Q 10 -Deficiency Disorders. Antioxidants (Basel, Switzerland) 12 (3) (2023)
Jack M Fu, F Kyle Satterstrom, Minshi Peng, Harrison Brand, Ryan L Collins, Shan Dong, Brie Wamsley, Lambertus Klei, Lily Wang, Stephanie P Hao, Christine R Stevens, Caroline Cusick, Mehrtash Babadi, Eric Banks, Brett Collins, Sheila Dodge, Stacey B Gabriel, Laura Gauthier, Samuel K Lee, Lindsay Liang, Alicia Ljungdahl, Behrang Mahjani, Laura Sloofman, Andrey N Smirnov, Mafalda Barbosa, Catalina Betancur, Alfredo Brusco, Brian Hon-Yin Chung, Edwin H Cook, Michael L Cuccaro, Enrico Domenici, Giovanni Battista Ferrero, J Jay Gargus, Gail E Herman, Irva Hertz-Picciotto, Patrícia Maciel, Dara S Manoach, Maria Rita Passos-Bueno, Antonio M Persico, Alessandra Renieri, James S Sutcliffe, Flora Tassone, Elisabetta Trabetti, Gabriele Campos, Simona Cardaropoli, Diana Carli, Marcus C Y Chan, Chiara Fallerini, Elisa Giorgio, Ana Cristina De Sanctis Girardi, Emily Hansen-Kiss, So Lun Lee, Carla Lintas, Yunin Ludena, Rachel Nguyen, Lisa Pavinato, Margaret A Pericak-Vance, Isaac N Pessah, Rebecca J Schmidt, Moyra Smith, Claudia I S Costa, Slavica Trajkova, Jaqueline Y T Wang, Mullin H C Yu, null null, null null, null null, David J Cutler, Silvia De Rubeis, Joseph D Buxbaum, Mark J Daly, Bernie Devlin, Kathryn Roeder, Stephan J Sanders, Michael E Talkowski
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism. Nature genetics 54 (9) (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)
Barbara B Biesecker, Margaret P Adam, Brian Hon-Yin Chung, Kenjiro Kosaki, Leonie A Menke, Susan M White, John C Carey, Raoul C M Hennekam
Elements of morphology: Standard terminology for the trunk and limbs. American journal of medical genetics. Part A 188 (11) (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)
Pui Tak Yu, Wendy Shu, Sau-Lan Mok, Pui-Wah Hui, Lin-Wai Chan, Ka-Yin Kwok, Kelvin Y K Chan, Tsz-Kin Lo, Brian Hon-Yin Chung, Ho-Ming Luk, Anita Sik Yau Kan
Prenatal presentation in two fetuses with features of Beckwith Wiedemann syndrome-An unexpected diagnosis of androgenetic chimera and its clinical implications. American journal of medical genetics. Part A 188 (5) (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)
Maian Roifman, Brian Hon-Yin Chung, Diane Myles Reid, Ronni Teitelbaum, Nicole Martin, Lynne E Nield, Megan Thompson, Patrick Shannon, David Chitayat
Heterozygous NOTCH1 deletion associated with variable congenital heart defects. Clinical genetics 99 (6) (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)
Nancy Vegas, Zeynep Demir, Christopher T Gordon, Sylvain Breton, Vanessa L Romanelli Tavares, Hugo Moisset, Roseli Zechi-Ceide, Nancy M Kokitsu-Nakata, Yasuhiro Kido, Sandrine Marlin, Souad Gherbi Halem, Ilse Meerschaut, Bert Callewaert, Brian Hon-Yin Chung, Nicole Revencu, Daphné Lehalle, Florence Petit, Evan J Propst, Blake C Papsin, John H Phillips, Linda Jakobsen, Pauline Le Tanno, Julien Thévenon, Julie McGaughran, Erica H Gerkes, Chiara Leoni, Peter Kroisel, Tiong Y Tan, Alex Henderson, Paulien Terhal, Lina Basel-Salmon, Adila Alkindy, Susan M White, Maria R Passos-Bueno, Véronique Pingault, Loïc De Pontual, Jeanne Amiel
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases. Human mutation 43 (5) (2022)
Claudia Ching Yan Chung, Wilfred Hing Sang Wong, Brian Hon-Yin Chung
Hospital mortality in patients with rare diseases during pandemics: lessons learnt from the COVID-19 and SARS pandemics. Orphanet journal of rare diseases 16 (1) (2021)
Claudia Ching Yan Chung, Yvette Nga Chung Ng, Ritu Jain, Brian Hon-Yin Chung
A thematic study: impact of COVID-19 pandemic on rare disease organisations and patients across ten jurisdictions in the Asia Pacific region. Orphanet journal of rare diseases 16 (1) (2021)
Vivian C C Hui, H C Li, Josh H K Chow, Chris S C Ng, Constance Y W Lui, Jasmine Lee Fong Fung, Christopher Chun Yu Mak, Brian Hon-Yin Chung, Gary Kui Kai Lau
Understanding and perception of direct-to-consumer genetic testing in Hong Kong. Journal of genetic counseling 30 (6) (2021)
Nicholas Yan Chai Cheung, Jasmine Lee Fong Fung, Yvette Nga Chung Ng, Wilfred Hing Sang Wong, Claudia Ching Yan Chung, Christopher Chun Yu Mak, Brian Hon-Yin Chung
Perception of personalized medicine, pharmacogenomics, and genetic testing among undergraduates in Hong Kong. Human genomics 15 (1) (2021)
Stephanie Ho, Mandy Ho-Yin Tsang, Jasmine Lee-Fong Fung, Haibo Huang, Chun-Bong Chow, Shirley Sze-Wing Cheng, Ho-Ming Luk, Brian Hon-Yin Chung, Ivan Fai-Man Lo
CTNNB1-related neurodevelopmental disorder in a Chinese population: A case series. American journal of medical genetics. Part A (2021)
Brian Hon-Yin Chung, Jeffrey Fong Ting Chau, Gane Ka-Shu Wong
Rare versus common diseases: a false dichotomy in precision medicine. NPJ genomic medicine 6 (1) (2021)
Mullin Ho-Chung Yu, Marcus Chun Yin Chan, Claudia Ching Yan Chung, Andrew Wang Tat Li, Chara Yin Wa Yip, Christopher Chun Yu Mak, Jeffrey Fong Ting Chau, Brian Hon-Yin Chung, Jasmine Lee Fong Fung, Mandy Ho Yin Tsang, Joshua Chun Ki Chan, Wilfred Hing-Sang Wong, Jing Yang, William Chun Ming Chui, Patrick Ho Yu Chung, Wanling Yang, So Lun Lee, Godfrey Chi Fung Chan, Paul Kwong Hang Tam, Yu Lung Lau, Clara Sze Man Tang, Kit San Yeung, Brian Hon-Yin Chung
Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population. PLoS genetics 17 (2) (2021)
Anna Hammarsjö, Maria Pettersson, David Chitayat, Atsuhiko Handa, Britt-Marie Anderlid, Marco Bartocci, Donald Basel, Dominyka Batkovskyte, Ana Beleza-Meireles, Peter Conner, Jesper Eisfeldt, Katta M Girisha, Brian Hon-Yin Chung, Eva Horemuzova, Hironobu Hyodo, Liene Korņejeva, Kristina Lagerstedt-Robinson, Angela E Lin, Måns Magnusson, Shahida Moosa, Shalini S Nayak, Daniel Nilsson, Hirofumi Ohashi, Naoko Ohashi-Fukuda, Henrik Stranneheim, Fulya Taylan, Rasa Traberg, Ulrika Voss, Valtteri Wirta, Ann Nordgren, Gen Nishimura, Anna Lindstrand, Giedre Grigelioniene
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses. Journal of human genetics 66 (10) (2021)
Alistair T Pagnamenta, Adam Jackson, Rahat Perveen, Glenda Beaman, Gemma Petts, Asheeta Gupta, Zerin Hyder, Brian Hon-Yin Chung, Anita Sik-Yau Kan, Ka Wang Cheung, Wilhelmina S Kerstjens-Frederikse, Kristin M Abbott, null null, Orly Elpeleg, Jenny C Taylor, Siddharth Banka, Asaf Ta-Shma
Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects. Clinical genetics 101 (1) (2021)
Anna Ka-Yee Kwong, Mandy Ho-Yin Tsang, Jasmine Lee-Fong Fung, Christopher Chun-Yu Mak, Kate Lok-San Chan, Richard J T Rodenburg, Monkol Lek, Shushu Huang, Sander Pajusalu, Man-Mut Yau, Cheung Tsoi, Sharon Fung, Kam-Tim Liu, Che-Kwan Ma, Sheila Wong, Eric Kin-Cheong Yau, Shuk-Mui Tai, Eva Lai-Wah Fung, Nick Shun-Ping Wu, Li-Yan Tsung, Jan Smeitink, Brian Hon-Yin Chung, Cheuk-Wing Fung
Exome sequencing in paediatric patients with movement disorders. Orphanet journal of rare diseases 16 (1) (2021)
Natalie B Tan, Alistair T Pagnamenta, Matteo P Ferla, Jonathan Gadian, Brian Hon-Yin Chung, Marcus Cy Chan, Jasmine Lf Fung, Edwin Cook, Stephen Guter, Felix Boschann, Andre Heinen, Jens Schallner, Cyril Mignot, Boris Keren, Sandra Whalen, Catherine Sarret, Dana Mittag, Laurie Demmer, Rachel Stapleton, Ken Saida, Naomichi Matsumoto, Noriko Miyake, Ruth Sheffer, Hagar Mor-Shaked, Christopher P Barnett, Alicia B Byrne, Hamish S Scott, Alison Kraus, Gerarda Cappuccio, Nicola Brunetti-Pierri, Raffaele Iorio, Fabiola Di Dato, Lynn S Pais, Alison Yeung, Tiong Yang Tan, Jenny C Taylor, John Christodoulou, Susan M White
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability. Journal of medical genetics (2021)
Clara Velmans, Anne H O'Donnell-Luria, Emanuela Argilli, Frederic Tran Mau-Them, Antonio Vitobello, Marcus Cy Chan, Jasmine Lee-Fong Fung, Megan Rech, Angela Abicht, Marion Aubert-Mucca, Jason Carmichael, Nicolas Chassaing, Robin Clark, Christine Coubes, Anne Sophie Denommé-Pichon, John Karl de Dios, Eleina England, Benoit Funalot, Marion Gerard, Maries Joseph, Colleen Kennedy, Camille Kumps, Marjolaine Willems, Ingrid M B H van de Laar, Coranne Aarts-Tesselaar, Marjon van Slegtenhorst, Daphné Lehalle, Kathleen Leppig, Lennart Lessmeier, Lynn S Pais, Heather Paterson, Subhadra Ramanathan, Lance H Rodan, Andrea Superti-Furga, Brian Hon-Yin Chung, Elliott Sherr, Christian Netzer, Christian Patrick Schaaf, Florian Erger
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum. Journal of medical genetics (2021)
Florrie N Y Yu, Elizabeth Y Y Li, Meliza C W Kong, Teresa W L Ma, Kelvin Y K Chan, Elim Man, Brian Hon-Yin Chung, Anita Sik Yau Kan
Increasing prenatal diagnosis of chimeras with the use of noninvasive prenatal screening: Report of two cases. Prenatal diagnosis 41 (6) (2021)
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)
Kit San Yeung, Florrie N Y Yu, Cheuk Wing Fung, Sheila Wong, Hencher H C Lee, Sharon T H Fung, Genevieve P G Fung, Kwok Yin Leung, Wai Hang Chung, Yun Ting Lee, Vivian K S Ng, Mullin H C Yu, Jasmine L F Fung, Mandy H Y Tsang, Kelvin Y K Chan, Sophelia Hoi Shan Chan, Anita S Y Kan, Brian Hon-Yin Chung
The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypes. Molecular genetics & genomic medicine 8 (7) (2020)
Mullin Ho Chung Yu, Christopher Chun Yu Mak, Jasmine Lee Fong Fung, Mianne Lee, Mandy Ho Yin Tsang, Jeffrey Fong Ting Chau, Patrick Ho-Yu Chung, Wanling Yang, Godfrey Chi Fung Chan, So Lun Lee, Yu Lung Lau, Paul Kwong Hang Tam, Clara Sze Man Tang, Kit San Yeung, Brian Hon-Yin Chung
Actionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing data. Journal of human genetics 66 (6) (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)
Brooke R Willis, Brian Hon-Yin Chung, Kavitha Rethanavelu, Jasmine L F Fung, Rosanna M S Wong, Peter Hui, Kit S Yeung, Ivan F M Lo, Brian Hon-Yin Chung
A case of G1013R FBN1 mutation: A potential genotype-phenotype correlation in severe Marfan syndrome. American journal of medical genetics. Part A 182 (6) (2020)
Mandy H Y Tsang, Annie Ting Gee Chiu, Bernard M H Kwong, Rui Liang, Mullin Ho-Chung Yu, Kit-San Yeung, Wetor H L Ho, Christopher Chun Yu Mak, Gordon K C Leung, Steven L C Pei, Jasmine L F Fung, Virginia C N Wong, Francesco Muntoni, Brian Hon-Yin Chung, Sophelia Hoi Shan Chan
Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients. Molecular genetics & genomic medicine 8 (5) (2020)
Sarah Wing Yiu Poon, Brian Hon-Yin Chung, Anita Man-Ching Tsang, Grace Wing-Kit Poon
Headache in a Child with Pseudohypoparathyroidism: An Alarming Symptom Not to Miss. Case reports in endocrinology 2020 (2020)
Mimi Tin Yan Seto, Aida M Bertoli-Avella, Ka Wang Cheung, Kelvin Yuen-Kwong Chan, Kit San Yeung, Jasmine Lee-Fong Fung, Christian Beetz, Peter Bauer, Ho-Ming Luk, Ivan Fai-Man Lo, Chin Peng Lee, Brian Hon-Yin Chung, Anita Sik-Yau Kan
Prenatal and postnatal diagnosis of Schuurs-Hoeijmakers syndrome: Case series and review of the literature. American journal of medical genetics. Part A 185 (2) (2020)
Mullin Ho-Chung Yu, Mandy Ho-Yin Tsang, Sophie Lai, Matthew Sai-Pong Ho, Donald M L Tse, Brooke Willis, Anna Ka-Yee Kwong, Yen-Yin Chou, Shuan-Pei Lin, Catarina M Quinzii, Wuh-Liang Hwu, Yin-Hsiu Chien, Pao-Lin Kuo, Victor Chi-Man Chan, Cheung Tsoi, Shuk-Ching Chong, Richard J T Rodenburg, Jan Smeitink, Christopher Chun Yu Mak, Kit-San Yeung, Jasmine Lee-Fong Fung, Wendy Lam, Joannie Hui, Ni-Chung Lee, Cheuk-Wing Fung, Brian Hon-Yin Chung
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese. NPJ genomic medicine 4 (2019)
Brian Hon-Yin Chung, Brooke Willis, Poh-San Lai
Development of clinical genetics in Asia. American journal of medical genetics. Part C, Seminars in medical genetics 181 (2) (2019)
Jasmine L F Fung, Kavitha Rethanavelu, Ho-Ming Luk, Matthew S P Ho, Ivan F M Lo, Brian Hon-Yin Chung
Coffin-Lowry syndrome in Chinese. American journal of medical genetics. Part A 179 (10) (2019)
Gordon K C Leung, Christopher C Y Mak, Jasmine L F Fung, Wilfred H S Wong, Mandy H Y Tsang, Mullin H C Yu, Steven L C Pei, K S Yeung, Gary T K Mok, C P Lee, Amelia P W Hui, Mary H Y Tang, Kelvin Y K Chan, Anthony P Y Liu, Wanling Yang, P C Sham, Anita S Y Kan, Brian Hon-Yin Chung
Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES). BMC medical genomics 11 (1) (2018)
A T G Chiu, S L C Pei, C C Y Mak, G K C Leung, M H C Yu, S L Lee, M Vreeburg, R Pfundt, I van der Burgt, T Kleefstra, T M-T Frederic, Sophie Nambot, L Faivre, Ange-Line Bruel, M Rossi, B Isidor, Sébastien Küry, B Cogne, T Besnard, M Willems, M R F Reijnders, Brian Hon-Yin Chung
Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion. Clinical genetics 93 (4) (2018)
M E Michel, D J Konczyk, K S Yeung, R Murillo, M P Vivero, A M Hall, D Zurakowski, D Adams, A Gupta, A Y Huang, Brian Hon-Yin Chung, Matthew L Warman
Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA-related overgrowth spectrum. Clinical genetics 93 (5) (2018)
Annie Ting Gee Chiu, Claudia Ching Yan Chung, Wilfred Hing Sang Wong, So Lun Lee, Brian Hon-Yin Chung
Healthcare burden of rare diseases in Hong Kong - adopting ORPHAcodes in ICD-10 based healthcare administrative datasets. Orphanet journal of rare diseases 13 (1) (2018)
Annisa Shui Lam Mak, Annie Ting Gee Chiu, Gordon Ka Chun Leung, Christopher Chun Yu Mak, Yoyo Wing Yiu Chu, Gary Tsz Kin Mok, Wing Fai Tang, Kelvin Yuen Kwong Chan, Mary Hoi Yin Tang, Elizabeth Tak-Kwong Lau Yim, Kin Wai So, Victoria Qinchen Tao, Cheuk Wing Fung, Virginia Chun Nei Wong, Mohammed Uddin, So Lun Lee, Christian R Marshall, Stephen W Scherer, Anita Sik Yau Kan, Brian Hon-Yin Chung
Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10. Molecular autism 8 (2017)
Kit San Yeung, Winnie Wan Yee Tso, Janice Jing Kun Ip, Christopher Chun Yu Mak, Gordon Ka Chun Leung, Mandy Ho Yin Tsang, Dingge Ying, Steven Lim Cho Pei, So Lun Lee, Wanling Yang, Brian Hon-Yin Chung
Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism. Molecular autism 8 (2017)
Ayeshah Chaudhry, Brian Hon-Yin Chung, Dimitri J Stavropoulos, Marcela P Araya, Asim Ali, Elise Heon, David Chitayat
Agenesis of the corpus callosum, developmental delay, autism spectrum disorder, facial dysmorphism, and posterior polymorphous corneal dystrophy associated with ZEB1 gene deletion. American journal of medical genetics. Part A 173 (9) (2017)