Zobrazeno 1 - 10
of 104
pro vyhledávání: '"Luk Hm"'
Autor:
Kwong, Anna KY, Zhang, Yanmin, Ho, Ronnie SL, Gao, Yuan, Ling, Xu, Tsang, Mandy HY, Luk, HM, Chung, Brian HY, Bönnemann, Carsten G, Javed, Asif, Chan, Sophelia HS
Publikováno v:
In Neuromuscular Disorders May 2023 33(5):371-381
Autor:
Tak-Wah Lam, Law W, Luk Hm, Yat-Sing Wong, Huan Yu, Lo If, Ye Zhang, Chak-Lim Wong, Leung Hc, Wai Shing Leung, Ruibang Luo, Ma Kk
Structural variation (SV) is a major cause of genetic disorders. In this paper, we show that low-depth (specifically, 4x) whole-genome sequencing using a single Oxford Nanopore MinION flow cell suffices to support sensitive detection of SV, in partic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bd1578bd8c30af1b4ef8092eb868be85
https://doi.org/10.1101/2021.04.20.440583
https://doi.org/10.1101/2021.04.20.440583
Autor:
Ruibang Luo, Zheng Z, Alan W. Leung, Lui W, Luk Hm, Tak-Wah Lam, Henry C. M. Leung, Chak-Lim Wong, Lo If
BackgroundThe application of long-read sequencing using the Oxford Nanopore Technologies (ONT) MinION sequencer is getting more diverse in the medical field. Having a high sequencing error of ONT and limited throughput from a single MinION flowcell,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::07fa11d88dea0e668390518bba5fde3c
https://doi.org/10.1101/2021.04.05.438455
https://doi.org/10.1101/2021.04.05.438455
Autor:
Yeung, KS, Chee, YY, Luk, HM, Kan, Anita SY, Tang, Mary HY, Lau, Elizabeth T, Shuen, Andrew Y, Lo, Ivan FM, Chan, Kelvin YK, Chung, Brian HY
Publikováno v:
American Journal of Medical Genetics. Part A; Oct2014, Vol. 164A Issue 10, p2521-2528, 8p
Publikováno v:
Journal of Orthopaedic Surgery; June 2018, Vol. 26 Issue: 2
Autor:
Ho SKL; Clinical Genetics Service Unit, Hong Kong Children's Hospital, Hong Kong SAR, China., Ng SYL; Clinical Genetics Service Unit, Hong Kong Children's Hospital, Hong Kong SAR, China., Yung TK; Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Mok MTS; Clinical Genetics Service Unit, Hong Kong Children's Hospital, Hong Kong SAR, China., Yiu WC; Clinical Genetics Service Unit, Hong Kong Children's Hospital, Hong Kong SAR, China., Cheng HHY; Department of Obstetrics and Gynaecology, Queen Mary Hospital, Hong Kong SAR, China., Cheng SSW; Clinical Genetics Service Unit, Hong Kong Children's Hospital, Hong Kong SAR, China., Luk HM; Clinical Genetics Service Unit, Hong Kong Children's Hospital, Hong Kong SAR, China., Lo IFM; Clinical Genetics Service Unit, Hong Kong Children's Hospital, Hong Kong SAR, China., Kan ASY; Department of Obstetrics and Gynaecology, Queen Mary Hospital, Hong Kong SAR, China.; Prenatal Diagnostic Laboratory, Department of Obstetrics and Gynaecology, Tsan Yuk Hospital, Hong Kong SAR, China.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Sep; Vol. 194 (9), pp. e63657. Date of Electronic Publication: 2024 May 15.
Autor:
Bayat A; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark. Electronic address: abaya@filadelfia.dk., Grimes H; Department of Clinical Genetics, University Hospital Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom., de Boer E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University, Nijmegen, The Netherlands; Department of Clinical Genetics, Erasmus Medical Centre - Sophia Children's Hospital, Rotterdam, The Netherlands., Herlin MK; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark., Dahl RS; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark., Lund ICB; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark., Bayat M; Department of Neurology, Aarhus University Hospital, Aarhus, Denmark; Center for Rare Diseases, Department of Pediatric and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark., Bolund ACS; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark., Gjerulfsen CE; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark., Gregersen PA; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark; Center for Rare Diseases, Department of Pediatric and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark., Zilmer M; Department of Child Neurology, Danish Epilepsy Center, Dianalund, Denmark., Juhl S; Department of Neurology, Danish Epilepsy Center, Dianalund, Denmark., Cebula K; Department of Neurology, Danish Epilepsy Center, Dianalund, Denmark., Rahikkala E; Dept of Clinical Genetics, Research Unit of Clinical Medicine, Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland., Maystadt I; Center for Human Genetics, Institute for Pathology and Genetics, Gosselies, Belgium; URPhyM, Faculty of Medicine, University of Namur, Namur, Belgium., Peron A; Medical Genetics, ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy; Division of Medical Genetics, Meyer Children's Hospital IRCCS, Florence, Italy; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio,' Università degli Studi di Firenze, Florence, Italy., Vignoli A; Child Neuropsychiatry Unit, Grande Ospedale Metropolitano Niguarda, University of Milan, Milan, Italy., Alfano RM; Medical Genetics, ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy., Stanzial F; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy., Benedicenti F; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy., Currò A; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy., Luk HM; Clinical Genetics Service Unit, Hong Kong Children's Hospital, HKSAR, Hong Kong., Jouret G; National Center of Genetics, Laboratoire National de Santé, Dudelange, Luxembourg., Zurita E; Hunter Genetics, New South Wales Health, Waratah, NSW, Australia., Heuft L; Institute for Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Schnabel F; Institute for Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Busche A; Department of Medical Genetics, University Hospital Münster, Germany., Veenstra-Knol HE; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Tkemaladze T; Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia; Givi Zhvania Pediatric Academic Clinic, Tbilisi State Medical University, Tbilisi, Georgia., Vrielynck P; Reference Center for Refractory Epilepsy, Catholic University of Louvain, William Lennox Neurological Hospital, Ottignies, Belgium., Lederer D; Institute for Pathology and Genetics, 6040, Gosselies, Belgium., Platzer K; Institute for Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Goel H; Hunter Genetics, New South Wales Health, Waratah, NSW, Australia., Low KJ; Department of Clinical Genetics, University Hospital Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom; Centre for Academic Child Health, Bristol Medical School, University of Bristol, United Kingdom.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Aug; Vol. 26 (8), pp. 101170. Date of Electronic Publication: 2024 May 27.
Autor:
Chan MCY; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong, Hong Kong SAR, China., Fung KKF; Department of Radiology, Hong Kong Children's Hospital, Hong Kong, Hong Kong SAR, China., Ng WF; Department of Pathology, Hong Kong Children's Hospital, Hong Kong, Hong Kong SAR, China., Luk HM; Clinical Genetics Service Unit, Hong Kong Children's Hospital, Hong Kong, Hong Kong SAR, China., Ku DTL; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, Hong Kong SAR, China., Liu APY; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong, Hong Kong SAR, China.; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, Hong Kong SAR, China.; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR, China.
Publikováno v:
Frontiers in oncology [Front Oncol] 2024 Jul 12; Vol. 14, pp. 1433073. Date of Electronic Publication: 2024 Jul 12 (Print Publication: 2024).
Autor:
Kwok SY; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Kowloon, Hong Kong SAR., Ho S; Clinical Genetics Service Unit, Hong Kong Children's Hospital, Kowloon, Hong Kong SAR., Shih FY; Clinical Genetics Service Unit, Hong Kong Children's Hospital, Kowloon, Hong Kong SAR., Yeung PK; Department of Health, Forensic Pathology Service, Kowloon, Hong Kong SAR., Cheng SSW; Clinical Genetics Service Unit, Hong Kong Children's Hospital, Kowloon, Hong Kong SAR., Poon WM; Department of Health, Forensic Pathology Service, Kowloon, Hong Kong SAR., Lo IFM; Clinical Genetics Service Unit, Hong Kong Children's Hospital, Kowloon, Hong Kong SAR., Luk HM; Clinical Genetics Service Unit, Hong Kong Children's Hospital, Kowloon, Hong Kong SAR.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jul 03, pp. e63797. Date of Electronic Publication: 2024 Jul 03.