Gordon K C Leung - Dept Paediat & Adolescent Med, Univ Hong Kong

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Rapid Whole-Exome Sequencing Facilitates Precision Medicine in Paediatric Rare Disease Patients and Reduces Healthcare Costs

Claudia C. Y. Chung,Gordon K. C. Leung,Christopher C. Y. Mak,Jasmine L. F. Fung,Mianne Lee,Steven L. C. Pei,Mullin H. C. Yu,Vivian C. C. Hui, Joshua C. K. Chan,Jeffrey F. T. Chau,Marcus C. Y. Chan,Mandy H. Y. Tsang,Wilfred H. S. Wong,Joanna Y. L. Tung,Kin Shing Lun, Yiu Ki Ng,Cheuk Wing Fung, Mabel S. C. Wong, Rosanna M. S. Wong,Yu Lung Lau, Godfrey C. F. Chan,So Lun Lee,Kit San Yeung,Brian H. Y. Chung

The Lancet regional health Western Pacific（2020）

引用41浏览0WOS引用

Diagnostic Value of Whole‐exome Sequencing in Chinese Pediatric‐onset Neuromuscular Patients

Mandy H. Y. Tsang,Annie T. G. Chiu, Bernard M. H. Kwong,Rui Liang,Mullin H. C. Yu,Kit-San Yeung, Wetor H. L. Ho,Christopher C. Y. Mak,Gordon K. C. Leung,Steven L. C. Pei,Jasmine L. F. Fung,Virginia C. N. Wong,Francesco Muntoni,Brian H. Y. Chung,Sophelia H. S. Chan

Molecular Genetics & Genomic Medicine（2020）

引用15浏览0WOS引用

Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong

Kris P T Yu, Ho-Ming Luk,Gordon K C Leung,Christopher C Y Mak,Shirley S W Cheng,Edgar W L Hau,David K H Chan,Stephen T S Lam,Tony M F Tong,Brian H Y Chung,Ivan F M Lo

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS（2019）

引用8浏览0WOS引用

MN1 C-terminal Truncation Syndrome is a Novel Neurodevelopmental and Craniofacial Disorder with Partial Rhombencephalosynapsis

Christopher C. Y. Mak,Dan Doherty,Angela E. Lin,Nancy Vegas,Megan T. Cho,Geraldine Viot,Clemantine Dimartino,James D. Weisfeld-Adams,Davor Lessel,Shelagh Joss,Chumei Li,Claudia Gonzaga-Jauregui,Yuri A. Zarate,Nadja Ehmke,Denise Horn, Caitlin Troyer,Sarina G. Kant,Youngha Lee,Gisele E. Ishak,Gordon Leung,Amanda Barone Pritchard,Sandra Yang,Eric G. Bend,Francesca Filippini,Chelsea Roadhouse,Nicolas Lebrun,Michele G. Mehaffey,Pierre-Marie Martin, Benjamin Apple,Francisca Millan,Oliver Puk,Mariette J. V. Hoffer,Lindsay B. Henderson,Ruth McGowan,Ingrid M. Wentzensen,Steven Pei,Farah R. Zahir,Mullin Yu,William T. Gibson,Ann Seman,Marcie Steeves,Jill R. Murrell, Sabine Luettgen, Elizabeth Francisco,Tim M. Strom,Louise Amlie-Wolf,Angela M. Kaindl,William G. Wilson,Sara Halbach,Lina Basel-Salmon,Noa Lev-El,Jonas Denecke,Lisenka E. L. M. Vissers,Kelly Radtke,Jamel Chelly,Elaine Zackai,Jan M. Friedman,Michael J. Bamshad,Deborah A. Nickerson,Russell R. Reid,Koenraad Devriendt,Jong-Hee Chae,Elliot Stolerman,Carey McDougall,Zoe Powis,Thierry Bienvenu,Tiong Y. Tan,Naama Orenstein,William B. Dobyns,Joseph T. Shieh,Murim Choi,Darrel Waggoner,Karen W. Gripp,Michael J. Parker,Joan Stoler,Stanislas Lyonnet,Valerie Cormier-Daire,David Viskochil,Trevor L. Hoffman,Jeanne Amiel,Brian H. Y. Chung,Christopher T. Gordon

Brain（2019）

引用33浏览0WOS引用

Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies

Gordon K. C. Leung,H. M. Luk, Vincent H. M. Tang,W. W. Gao,Christopher C. Y. Mak,Mullin H. C. Yu, W. L. Wong,Yoyo W. Y. Chu,W. L. Yang,Wilfred H. S. Wong,Alvin C. H. Ma,Anskar Y. H. Leung,D. Y. Jin,Kelvin Y. K. Chan,Judith Allanson,Ivan F. M. Lo,Brian H. Y. Chung

Scientific Reports（2018）

引用19浏览0WOSNATURE引用

Noonan Syndrome in Diverse Populations

Paul Kruszka,Antonio R. Porras,Yonit A. Addissie,Angelica Moresco,Sofia Medrano,Gary T. K. Mok,Gordon K. C. Leung,Cedrik Tekendo-Ngongang,Annette Uwineza,Meow-Keong Thong,Premala Muthukumarasamy,Engela Honey,Ekanem N. Ekure,Ogochukwu J. Sokunbi,Nnenna Kalu,Kelly L. Jones,Julie D. Kaplan,Omar A. Abdul-Rahman,Lisa M. Vincent,Amber Love,Khadija Belhassan,Karim Ouldim,Ihssane El Bouchikhi,Anju Shukla,Katta M. Girisha,Siddaramappa J. Patil,Nirmala D. Sirisena,Vajira H. W. Dissanayake,C. Sampath Paththinige,Rupesh Mishra, Eva Klein-Zighelboim, Bertha E. Gallardo Jugo,Miguel Chavez Pastor,Hugo H. Abarca-Barriga,Steven A. Skinner,Eloise J. Prijoles,Eben Badoe,Ashleigh D. Gill,Vorasuk Shotelersuk,Patroula Smpokou,Monisha S. Kisling,Carlos R. Ferreira,Leon Mutesa,Andre Megarbane,Antonie D. Kline,Amy Kimball,Emmy Okello,Peter Lwabi,Twalib Aliku,Emmanuel Tenywa,Nonglak Boonchooduang,Pranoot Tanpaiboon,Antonio Richieri-Costa,Ambroise Wonkam,Brian H. Y. Chung,Roger E. Stevenson,Marshall Summar,Kausik Mandal,Shubha R. Phadke,Maria G. Obregon,Marius G. Linguraru,Maximilian Muenke

American journal of medical genetics Part Ano. 9 (2017): 2323-2334

引用65浏览0WOS引用

CFTR Founder Mutation Causes Protein Trafficking Defects in Chinese Patients with Cystic Fibrosis

Gordon K. C. Leung,Dingge Ying,Christopher C. Y. Mak,Xin-Ying Chen,Weiyi Xu,Kit-San Yeung,Wai-Lap Wong,Yoyo W. Y. Chu,Gary T. K. Mok,Christy S. K. Chau, Jenna McLuskey, Winnie P. T. Ong,Huey-Yin Leong,Kelvin Y. K. Chan,Wanling Yang,Jeng-Haur Chen,Albert M. Li,Pak C. Sham,Yu-Lung Lau,Brian H. Y. Chung,So-Lun Lee

MOLECULAR GENETICS & GENOMIC MEDICINEno. 1 (2017): 40-49

引用13浏览0WOS引用

Cover Image, Volume 173A, Number 9, September 2017

Paul Kruszka,Antonio R Porras,Yonit A Addissie,Angélica Moresco,Sofia Medrano,Gary T K Mok,Gordon K C Leung,Cedrik Tekendo-Ngongang,Annette Uwineza,Meow-Keong Thong,Premala Muthukumarasamy,Engela Honey,Ekanem N Ekure,Ogochukwu J Sokunbi,Nnenna Kalu,Kelly L Jones,Julie D Kaplan,Omar A Abdul-Rahman,Lisa M Vincent,Amber Love,Khadija Belhassan,Karim Ouldim,Ihssane El Bouchikhi,Anju Shukla,Katta M Girisha,Siddaramappa J Patil,Nirmala D Sirisena,Vajira H W Dissanayake,C Sampath Paththinige,Rupesh Mishra, Eva Klein-Zighelboim, Bertha E Gallardo Jugo,Miguel Chávez Pastor,Hugo H Abarca-Barriga,Steven A Skinner,Eloise J Prijoles,Eben Badoe,Ashleigh D Gill,Vorasuk Shotelersuk,Patroula Smpokou,Monisha S Kisling,Carlos R Ferreira,Leon Mutesa,Andre Megarbane,Antonie D Kline,Amy Kimball,Emmy Okello,Peter Lwabi,Twalib Aliku,Emmanuel Tenywa,Nonglak Boonchooduang,Pranoot Tanpaiboon,Antonio Richieri-Costa,Ambroise Wonkam,Brian H Y Chung,Roger E Stevenson,Marshall Summar,Kausik Mandal,Shubha R Phadke,María G Obregon,Marius G Linguraru,Maximilian Muenke

American journal of medical genetics. Part A（2017）

引用1浏览0WOS引用

De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients

Christopher C Y Mak,Pak Cheong Chow,Anthony P Y Liu,Kelvin Y K Chan,Yoyo W Y Chu,Gary T K Mok,Gordon K C Leung,Kit San Yeung,Adolphus K T Chau,Chelsea Lowther,Stephen W Scherer,Christian R Marshall,Anne S Bassett,Brian H Y Chung

npj Genomic Medicine（2016）

引用7浏览0WOSNATURE引用

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