Revealing the role of SPP1+ macrophages in glioma prognosis and therapeutic targeting by investigating tumor-associated macrophage landscape in grade 2 and 3 gliomas by Wenshu Tang, Cario W. S. Lo, Wei Ma, Annie T. W. Chu, Amy H. Y. Tong, Brian H. Y. Chung

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Neuroimaging in Primary Coenzyme-Q₁₀-Deficiency Disorders by Juliane Münch, Jannik Prasuhn, Lucia Laugwitz, Cheuk-Wing Fung, Brian H.-Y. Chung, Marcello Bellusci, Ertan Mayatepek, Dirk Klee, Felix Distelmaier

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A review on trends in development and translation of omics signatures in cancer by Wei Ma, Wenshu Tang, Jamie S.L. Kwok, Amy H.Y. Tong, Cario W.S. Lo, Annie T.W. Chu, Brian H.Y. Chung

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A fatal case of COQ7‐associated primary coenzyme Q10 deficiency by Anna K.‐Y. Kwong, Annie T.‐G. Chiu, Mandy H.‐Y. Tsang, Kin‐Shing Lun, Richard J. T. Rodenburg, Jan Smeitink, Brian H.‐Y. Chung, Cheuk‐Wing Fung

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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 by Man Wai Cecilia Yu, Jasmine Lee Fong Fung, Amy Pui Pui Ng, Zhuo Li, Wang Lan, Claudia Ching Yan Chung, Yang Li, Ying Liu, Brian H. Y. Chung, William Chi Wai Wong

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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) by Claudia C. Y. Chung, Jasmine L. F. Fung, Adrian C. Y. Lui, Marcus C. Y. Chan, Yvette N. C. Ng, Wilfred H. S. Wong, So Lun Lee, Martin Knapp, Brian H. Y. Chung

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Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants by Mianne Lee, Adrian C. Y. Lui, Joshua C. K. Chan, Phoenix H. L. Doong, Anna K. Y. Kwong, Christopher C. Y. Mak, Raymond H. W. Li, Anita S. Y. Kan, Brian H. Y. Chung

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Evaluating High‐Confidence Genes in Conotruncal Cardiac Defects by Gene Burden Analyses by Martin M. C. Chui, Christopher C. Y. Mak, Mullin H. C. Yu, Sandra Y. Y. Wong, Kin‐Shing Lun, Tak‐Cheung Yung, Anna K. Y. Kwong, Pak‐Cheong Chow, Brian H. Y. Chung

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Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept by Mianne Lee, Anna K. Y. Kwong, Martin M. C. Chui, Jeffrey F. T. Chau, Christopher C. Y. Mak, Sandy L. K. Au, Hei Man Lo, Kelvin Y. K. Chan, Vicente A. Yépez, Julien Gagneur, Anita S. Y. Kan, Brian H. Y. Chung

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Whole-genome array CGH evaluation for replacing prenatal karyotyping in Hong Kong. by Anita S Y Kan, Elizabeth T Lau, W F Tang, Sario S Y Chan, Simon C K Ding, Kelvin Y K Chan, C P Lee, Pui Wah Hui, Brian H Y Chung, K Y Leung, Teresa Ma, Wing C Leung, Mary H Y Tang

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Diagnostic value of whole‐exome sequencing in Chinese pediatric‐onset neuromuscular patients by 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

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Genome-Wide DNA Methylation Profiling as Frontline Diagnostics for Central Nervous System Embryonal Tumors in Hong Kong by Otto C. H. Tam, Ronnie S. L. Ho, Shing Chan, Kay K. W. Li, Tit-Leung Lam, Elaine T. Y. Cheung, Oi-Yee Cheung, Wilson W. S. Ho, Kevin K. F. Cheng, Matthew M. K. Shing, Dennis T. L. Ku, Brian H. Y. Chung, Wanling Yang, Godfrey C. F. Chan, Ho-Keung Ng, Anthony P. Y. Liu

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Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES) by 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

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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 by Kit San Yeung, Florrie N. Y. Yu, Cheuk Wing Fung, Sheila Wong, Hencher H. C. Lee, Sharon T. H. Fung, Genevieve P. G. Fung, Kwok Yin Leung, Wai Hang Chung, Yun Ting Lee, Vivian K. S. Ng, Mullin H. C. Yu, Jasmine L. F. Fung, Mandy H. Y. Tsang, Kelvin Y. K. Chan, Sophelia H. S. Chan, Anita S. Y. Kan, Brian H. Y. Chung

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

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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 by Mandy H.Y. Tsang, Anna K.Y. Kwong, Kate L.S. Chan, Jasmine L.F. Fung, Mullin H.C. Yu, Christopher C.Y. Mak, Kit-San Yeung, Richard J.T. Rodenburg, Jan A.M. Smeitink, Rachel Chan, Thomas Tsoi, Joannie Hui, Shelia S.N Wong, Shuk-Mui Tai, Victor C.M. Chan, Che-Kwan Ma, Sharon T.H. Fung, Shun-Ping Wu, W.K. Chak, Brian H.Y. Chung, Cheuk-Wing Fung

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