Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Gordon K C, Leung"'
Autor:
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
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 5, Pp n/a-n/a (2020)
Abstract Background Neuromuscular disorders (NMDs) comprise a group of heterogeneous genetic diseases with a broad spectrum of overlapping the clinical presentations that makes diagnosis challenging. Notably, the recent introduction of whole‐exome
Externí odkaz:
https://doaj.org/article/5a0b380eb4b7467591756076bbbcdea8
Autor:
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 H Y Chung
Publikováno v:
BMC Medical Genomics, Vol 11, Iss 1, Pp 1-10 (2018)
Abstract Background Whole-exome sequencing (WES) has become an invaluable tool for genetic diagnosis in paediatrics. However, it has not been widely adopted in the prenatal setting. This study evaluated the use of WES in prenatal genetic diagnosis in
Externí odkaz:
https://doaj.org/article/282d5793434f48b0ae2433ea3829b919
Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies
Autor:
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
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-9 (2018)
Abstract RASopathies are a group of heterogeneous conditions caused by germline mutations in RAS/MAPK signalling pathway genes. With next-generation sequencing (NGS), sequencing capacity is no longer a limitation to molecular diagnosis. Instead, the
Externí odkaz:
https://doaj.org/article/e980db126d344af19a9dfb09f4501b49
Autor:
Shen, Gu, Jennifer E, Posey, Bo, Yuan, Claudia M B, Carvalho, H M, Luk, Kelly, Erikson, Ivan F M, Lo, Gordon K C, Leung, Curtis R, Pickering, Brian H Y, Chung, James R, Lupski
Publikováno v:
Human mutation. 37(2)
Germline copy-number variants (CNVs) involving quadruplications are rare and the mechanisms generating them are largely unknown. Previously, we reported a 20-week gestation fetus with split-hand malformation; clinical microarray detected two maternal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b46095b07f2299c4ff05ba27687ba309
https://pubmed.ncbi.nlm.nih.gov/26549411
https://pubmed.ncbi.nlm.nih.gov/26549411
Autor:
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
Publikováno v:
American Journal of Medical Genetics Part A. 173:i-i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5c3859498f2ede820ba7aa5a36016e2f
https://doi.org/10.1002/ajmg.a.38408
https://doi.org/10.1002/ajmg.a.38408