Výsledky vyhledávání - Chung, Brian H.Y.

Diffusion-Weighted MR Imaging in Neonatal Nonketotic Hyperglycinemia Autor Khong, Pek-Lan, Lam, Barbara C. C., Chung, Brian H. Y., Wong, Ka-Yin, Ooi, Gaik-Cheng

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Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations Autor Aldinger, Kimberly A., Mendelsohn, Nancy J., Chung, Brian H.Y., Zhang, Wenjuan, Cohn, Daniel H., Fernandez, Bridget, Alkuraya, Fowzan S., Dobyns, William B., Curry, Cynthia J.

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A fatal case of COQ7‐associated primary coenzyme Q(10) deficiency Autor Kwong, Anna K.‐Y., Chiu, Annie T.‐G., Tsang, Mandy H.‐Y., Lun, Kin‐Shing, Rodenburg, Richard J. T., Smeitink, Jan, Chung, Brian H.‐Y., Fung, Cheuk‐Wing

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Preparing genomic revolution: Attitudes, clinical practice, and training needs in delivering genetic counseling in primary care in Hong Kong and Shenzhen, China Autor Yu, Man Wai Cecilia, Fung, Jasmine Lee Fong, Ng, Amy Pui Pui, Li, Zhuo, Lan, Wang, Chung, Claudia Ching Yan, Li, Yang, Liu, Ying, Chung, Brian H. Y., Wong, William Chi Wai

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Client Service Receipt Inventory as a standardised tool for measurement of socio-economic costs in the rare genetic disease population (CSRI-Ra) Autor Chung, Claudia C. Y., Fung, Jasmine L. F., Lui, Adrian C. Y., Chan, Marcus C. Y., Ng, Yvette N. C., Wong, Wilfred H. S., Lee, So Lun, Knapp, Martin, Chung, Brian H. Y.

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Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA Related Overgrowth Spectrum (PROS) Autor Michel, Megan E., Konczyk, Dennis J., Yeung, Kit San, Murillo, Rudy, Vivero, Matthew P., Hall, Amber M., Zurakowski, David, Adams, Denise, Gupta, Anita, Huang, August Y., Chung, Brian H.Y., Warman, Matthew L.

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Whole-Genome Array CGH Evaluation for Replacing Prenatal Karyotyping in Hong Kong Autor Kan, Anita S. Y., Lau, Elizabeth T., Tang, W. F., Chan, Sario S. Y., Ding, Simon C. K., Chan, Kelvin Y. K., Lee, C. P., Hui, Pui Wah, Chung, Brian H. Y., Leung, K. Y., Ma, Teresa, Leung, Wing C., Tang, Mary H. Y.

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A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis Autor Fung, Jasmine L. F., Yu, Mullin H. C., Huang, Shushu, Chung, Claudia C. Y., Chan, Marcus C. Y., Pajusalu, Sander, Mak, Christopher C. Y., Hui, Vivian C. C., Tsang, Mandy H. Y., Yeung, Kit San, Lek, Monkol, Chung, Brian H. Y.

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The Clinical Impact of Chromosomal Microarray on Paediatric Care in Hong Kong Autor Tao, Victoria Q., Chan, Kelvin Y. K., Chu, Yoyo W. Y., Mok, Gary T. K., Tan, Tiong Y., Yang, Wanling, Lee, So Lun, Tang, Wing Fai, Tso, Winnie W. Y., Lau, Elizabeth T., Kan, Anita S. Y., Tang, Mary H., Lau, Yu-lung, Chung, Brian H. Y.

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De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients Autor Mak, Christopher C Y, Chow, Pak Cheong, Liu, Anthony P Y, Chan, Kelvin Y K, Chu, Yoyo W Y, Mok, Gary T K, Leung, Gordon K C, Yeung, Kit San, Chau, Adolphus K T, Lowther, Chelsea, Scherer, Stephen W, Marshall, Christian R, Bassett, Anne S, Chung, Brian H Y

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OMIC-07. FEASIBILITY AND UTILITY OF EPIGENOMIC PROFILING FOR CHILDHOOD CNS TUMORS IN HONG KONG Autor P.Y. Liu, Anthony, Ho, Ronnie S L, Li, Kay K W, Chan, Shing, Ku, Dennis T L, Fu, Eric, Luk, Chung-Wing, Yau, Jeffrey P W, Ling, Siu-Cheung, Chung, Brian H Y, Yang, Wanling, Kan, Amanda, Shing, Matthew M K, Ng, Ho-Keung, Chan, Godfrey C F

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Diagnostic value of whole‐exome sequencing in Chinese pediatric‐onset neuromuscular patients Autor Tsang, Mandy H. Y., Chiu, Annie T. G., Kwong, Bernard M. H., Liang, Rui, Yu, Mullin H. C., Yeung, Kit‐San, Ho, Wetor H. L., Mak, Christopher C. Y., Leung, Gordon K. C., Pei, Steven L. C., Fung, Jasmine L. F., Wong, Virginia C. N., Muntoni, Francesco, Chung, Brian H. Y., Chan, Sophelia H. S.

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Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies Autor Leung, Gordon K. C., Luk, H. M., Tang, Vincent H. M., Gao, W. W., Mak, Christopher C. Y., Yu, Mullin H. C., Wong, W. L., Chu, Yoyo W. Y., Yang, W. L., Wong, Wilfred H. S., Ma, Alvin C. H., Leung, Anskar Y. H., Jin, D. Y., Chan, Kelvin Y. K., Allanson, Judith, Lo, Ivan F. M., Chung, Brian H. Y.

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Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES) Autor Leung, Gordon K C, Mak, Christopher C Y, Fung, Jasmine L F, Wong, Wilfred H S, Tsang, Mandy H Y, Yu, Mullin H C, Pei, Steven L C, Yeung, K S, Mok, Gary T K, Lee, C P, Hui, Amelia P W, Tang, Mary H Y, Chan, Kelvin Y K, Liu, Anthony P Y, Yang, Wanling, Sham, P C, Kan, Anita S Y, Chung, Brian H Y

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The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes Autor Yeung, Kit San, Yu, Florrie N. Y., Fung, Cheuk Wing, Wong, Sheila, Lee, Hencher H. C., Fung, Sharon T. H., Fung, Genevieve P. G., Leung, Kwok Yin, Chung, Wai Hang, Lee, Yun Ting, Ng, Vivian K. S., Yu, Mullin H. C., Fung, Jasmine L. F., Tsang, Mandy H. Y., Chan, Kelvin Y. K., Chan, Sophelia H. S., Kan, Anita S. Y., Chung, Brian H. Y.

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CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis Autor Leung, Gordon K. C., Ying, Dingge, Mak, Christopher C. Y., Chen, Xin‐Ying, Xu, Weiyi, Yeung, Kit‐San, Wong, Wai‐Lap, Chu, Yoyo W. Y., Mok, Gary T. K., Chau, Christy S. K., McLuskey, Jenna, Ong, Winnie P. T., Leong, Huey‐Yin, Chan, Kelvin Y. K., Yang, Wanling, Chen, Jeng‐Haur, Li, Albert M., Sham, Pak C., Lau, Yu‐Lung, Chung, Brian H. Y., Lee, So‐Lun

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Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population Autor Tsang, Mandy H.Y., Kwong, Anna K.Y., Chan, Kate L.S., Fung, Jasmine L.F., Yu, Mullin H.C., Mak, Christopher C.Y., Yeung, Kit-San, Rodenburg, Richard J.T., Smeitink, Jan A.M., Chan, Rachel, Tsoi, Thomas, Hui, Joannie, Wong, Shelia S.N, Tai, Shuk-Mui, Chan, Victor C.M., Ma, Che-Kwan, Fung, Sharon T.H., Wu, Shun-Ping, Chak, W.K., Chung, Brian H.Y., Fung, Cheuk-Wing

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Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs Autor Chung, Claudia C.Y., Leung, Gordon K.C., Mak, Christopher C.Y., Fung, Jasmine L.F., Lee, Mianne, Pei, Steven L.C., Yu, Mullin H.C., Hui, Vivian C.C., Chan, Joshua C.K., Chau, Jeffrey F.T., Chan, Marcus C.Y., Tsang, Mandy H.Y., Wong, Wilfred H.S., Tung, Joanna Y.L., Lun, Kin Shing, Ng, Yiu Ki, Fung, Cheuk Wing, Wong, Mabel S.C., Wong, Rosanna M.S., Lau, Yu Lung, Chan, Godfrey C.F., Lee, So Lun, Yeung, Kit San, Chung, Brian H.Y.

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DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes Autor Choufani, Sanaa, Gibson, William T., Turinsky, Andrei L., Chung, Brian H.Y., Wang, Tianren, Garg, Kopal, Vitriolo, Alessandro, Cohen, Ana S.A., Cyrus, Sharri, Goodman, Sarah, Chater-Diehl, Eric, Brzezinski, Jack, Brudno, Michael, Ming, Luk Ho, White, Susan M., Lynch, Sally Ann, Clericuzio, Carol, Temple, I. Karen, Flinter, Frances, McConnell, Vivienne, Cushing, Tom, Bird, Lynne M., Splitt, Miranda, Kerr, Bronwyn, Scherer, Stephen W., Machado, Jerry, Imagawa, Eri, Okamoto, Nobuhiko, Matsumoto, Naomichi, Testa, Guiseppe, Iascone, Maria, Tenconi, Romano, Caluseriu, Oana, Mendoza-Londono, Roberto, Chitayat, David, Cytrynbaum, Cheryl, Tatton-Brown, Katrina, Weksberg, Rosanna

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Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa Autor Van Damme, Tim, Gardeitchik, Thatjana, Mohamed, Miski, Guerrero-Castillo, Sergio, Freisinger, Peter, Guillemyn, Brecht, Kariminejad, Ariana, Dalloyaux, Daisy, van Kraaij, Sanne, Lefeber, Dirk J., Syx, Delfien, Steyaert, Wouter, De Rycke, Riet, Hoischen, Alexander, Kamsteeg, Erik-Jan, Wong, Sunnie Y., van Scherpenzeel, Monique, Jamali, Payman, Brandt, Ulrich, Nijtmans, Leo, Korenke, G. Christoph, Chung, Brian H.Y., Mak, Christopher C.Y., Hausser, Ingrid, Kornak, Uwe, Fischer-Zirnsak, Björn, Strom, Tim M., Meitinger, Thomas, Alanay, Yasemin, Utine, Gulen E., Leung, Peter K.C., Ghaderi-Sohi, Siavash, Coucke, Paul, Symoens, Sofie, De Paepe, Anne, Thiel, Christian, Haack, Tobias B., Malfait, Fransiska, Morava, Eva, Callewaert, Bert, Wevers, Ron A.

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