基本信息
views: 163

Bio
Awards
2013 - Outstanding Oral Presentation Award - Identifying genetic mutations in patients with RASopathies using a new generation sequencing diagnostic pipeline in Hong Kong; Annual Scientific Meeting 2013, Hong Kong College of Paediatricians
2013 - Outstanding Poster Presentation Award - Integration of chromosomal microarray into paediatric clinical care in Hong Kong; Annual Scientific Meeting 2013, Hong Kong College of Paediatricians
2013 - Certificate of Excellence - Master of Science in Genomics & Bioinformatics; Division of Genomics & Bioinformatics, CUHK-BGI Innovation Institute of Trans-omics
2012 - Outstanding Team award - The Hong Kong West Cluster
2010 - 10-year Loyalty Award - Queen Mary Hospital
2010 - First Runner-up Best Poster Presentation - 7th Asia Pacific Medical Education Conference (APMEC)
2010 - One of the Top 4 submissions - 34th Annual Scientific Meeting, Canadian College of Medical Genetics
2010 - Best Basic Research - Annual Research Day, Paediatrics, Hospital for Sick Children, Toronto
2009 & 2010 - Fellow Award - 30th Annual David W. Smith Workshop on Malformations and Morphogenesis
2005 - Silver Medal in Best Original Research Contest - Clinical Markers Useful in Enhancing Diagnostic Yield for Children with Global Developmental Delay (GDD); HK Academy of Medicine
2005 - Most Outstanding Free Paper - (SMARD1) Spinal muscular atrophy with respiratory distress type 1 mutation in a Chinese boy; The 3rd Hong Kong Genetic Symposium 2005
Research Interests
Papers共 352 篇Author StatisticsCo-AuthorSimilar Experts
By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
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期刊级别
合作者
合作机构
Annie TW Chu, Samuel YC Sze, Desiree MS Tse, Cheryl WY Lai, Carmen S Ng, Coco WS Yu, Pui-hong Chung, Fei-chau Pang,Brian HY Chung, Su-vui Lo,Jianchao Quan
Human Genomicsno. 1 (2025): 1-12
Desiree M S Tse,Brian H Y Chung, Hong Kong Genetic Counselling Practice Consortium, Hong Kong Genome Project, Annie T W Chu
Journal of human geneticsno. 5 (2025): 233-241
Christopher C.Y. Mak,Hannah Klinkhammer,Sanaa Choufani, Nikola Reko, Angela K. Christman, Elise Pisan, Martin M.C. Chui, Mianne Lee, Fiona Leduc,Jennifer C. Dempsey, Pedro A. Sanchez-Lara, Hannah M. Bombei, John A. Bernat,Laurence Faivre, Frederic Tran Mau-Them, Irene Valenzuela Palafoll,Natalie Canham,Ajoy Sarkar,Yuri A. Zarate,Bert Callewaert, Ewelina Bukowska-Olech,Aleksander Jamsheer,Andreas Zankl,Marjolaine Willems, Laura Duncan,Bertrand Isidor, Benjamin Cogne,Odile Boute,Clémence Vanlerberghe,Alice Goldenberg, Elliot Stolerman, Karen J. Low, Vianney Gilard,Jeanne Amiel, Angela E. Lin,Christopher T. Gordon,Dan Doherty, Peter M. Krawitz,Rosanna Weksberg, Tzung-Chien Hsieh,Brian H.Y. Chung
EBioMedicine (2025): 105677
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Christopher C Y Mak,Hannah Klinkhammer,Sanaa Choufani, Nikola Reko, Angela K Christman, Elise Pisan, Martin M C Chui, Mianne Lee, Fiona Leduc,Jennifer C Dempsey, Pedro A Sanchez-Lara, Hannah M Bombei, John A Bernat,Laurence Faivre, Frederic Tran Mau-Them, Irene Valenzuela Palafoll,Natalie Canham,Ajoy Sarkar,Yuri A Zarate,Bert Callewaert, Ewelina Bukowska-Olech,Aleksander Jamsheer,Andreas Zankl,Marjolaine Willems, Laura Duncan,Bertrand Isidor, Benjamin Cogne,Odile Boute,Clémence Vanlerberghe,Alice Goldenberg, Elliot Stolerman, Karen J Low, Vianney Gilard,Jeanne Amiel, Angela E Lin,Christopher T Gordon,Dan Doherty, Peter M Krawitz,Rosanna Weksberg, Tzung-Chien Hsieh,Brian H Y Chung
EBioMedicine (2025): 105677-105677
Hong Kong medical journal = Xianggang yi xue za zhino. 1 (2024): 23-26
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Pediatric Nephrology (2024)
Hong Kong medical journal = Xianggang yi xue za zhino. 1 (2024): 29-33
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Sit Yee Kwok,Anna Ka Yee Kwong, Julia Zhuo Shi, Connie Fong Ying Shih,Mianne Lee,Christopher C. Y. Mak,Martin Chui,Sabrina Tsao,Brian Hon Yin Chung
BMJ Case Reportsno. 3 (2024): e247864-e247864
Hellen Lesmann,Alexander Hustinx,Shahida Moosa,Hannah Klinkhammer,Elaine Marchi,Pilar Caro,Ibrahim M Abdelrazek,Jean Tori Pantel, Merle Ten Hagen,Meow-Keong Thong, Rifhan Azwani Binti Mazlan,Sok Kun Tae,Tom Kamphans,Wolfgang Meiswinkel,Jing-Mei Li,Behnam Javanmardi,Alexej Knaus,Annette Uwineza,Cordula Knopp,Tinatin Tkemaladze,Miriam Elbracht, Larissa Mattern,Rami Abou Jamra,Clara Velmans,Vincent Strehlow,Maureen Jacob,Angela Peron,Cristina Dias,Beatriz Carvalho Nunes, Thainá Vilella, Isabel Furquim Pinheiro,Chong Ae Kim,Maria Isabel Melaragno, Hannah Weiland, Sophia Kaptain,Karolina Chwiałkowska, Miroslaw Kwasniewski, Ramy Saad,Sarah Wiethoff,Himanshu Goel, Clara Tang, Anna Hau,Tahsin Stefan Barakat, Przemysław Panek,Amira Nabil, Julia Suh,Frederik Braun,Israel Gomy,Luisa Averdunk,Ekanem Ekure,Gaber Bergant,Borut Peterlin,Claudio Graziano,Nagwa Gaboon, Moisés Fiesco-Roa,Alessandro Mauro Spinelli, Nina-Maria Wilpert,Prasit Phowthongkum,Nergis Güzel,Tobias B Haack,Rana Bitar,Andreas Tzschach,Agusti Rodriguez-Palmero,Theresa Brunet,Sabine Rudnik-Schöneborn, Silvina Noemi Contreras-Capetillo, Ava Oberlack,Carole Samango-Sprouse,Teresa Sadeghin, Margaret Olaya,Konrad Platzer,Artem Borovikov,Franziska Schnabel,Lara Heuft, Vera Herrmann,Renske Oegema,Nour Elkhateeb,Sheetal Kumar,Katalin Komlosi, Khoushoua Mohamed,Silvia Kalantari,Fabio Sirchia, Antonio F Martinez-Monseny, Matthias Höller, Louiza Toutouna, Amal Mohamed,Amaia Lasa-Aranzasti,John A Sayer,Nadja Ehmke,Magdalena Danyel,Henrike Sczakiel,Sarina Schwartzmann,Felix Boschann,Max Zhao,Ronja Adam, Lara Einicke,Denise Horn,Kee Seang Chew,Choy Chen Kam, Miray Karakoyun,Ben Pode-Shakked,Aviva Eliyahu,Rachel Rock, Teresa Carrion,Odelia Chorin,Yuri A Zarate, Marcelo Martinez Conti,Mert Karakaya,Moon Ley Tung,Bharatendu Chandra,Arjan Bouman,Aime Lumaka,Naveed Wasif,Marwan Shinawi,Patrick R Blackburn,Tianyun Wang, Tim Niehues,Axel Schmidt, Regina Rita Roth,Dagmar Wieczorek,Ping Hu,Rebekah L Waikel,Suzanna E Ledgister Hanchard,Gehad Elmakkawy,Sylvia Safwat,Frédéric Ebstein,Elke Krüger,Sébastien Küry,Stéphane Bézieau,Annabelle Arlt,Eric Olinger,Felix Marbach, Dong Li,Lucie Dupuis,Roberto Mendoza-Londono,Sofia Douzgou Houge,Denisa Weis,Brian Hon-Yin Chung,Christopher C Y Mak,Hülya Kayserili,Nursel Elcioglu,Ayca Aykut, Peli Özlem Şimşek-Kiper,Nina Bögershausen,Bernd Wollnik,Heidi Beate Bentzen,Ingo Kurth,Christian Netzer,Aleksandra Jezela-Stanek,Koen Devriendt,Karen W Gripp,Martin Mücke,Alain Verloes,Christian P Schaaf,Christoffer Nellåker,Benjamin D Solomon,Markus M Nöthen,Ebtesam Abdalla,Gholson J Lyon,Peter M Krawitz,Tzung-Chien Hsieh
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Author Statistics
#Papers: 352
#Citation: 10583
H-Index: 46
G-Index: 97
Sociability: 8
Diversity: 4
Activity: 100
Co-Author
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- 学生
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