Client Service Receipt Inventory as a standardised tool for measurement of socio-economic costs in the rare genetic disease population (CSRI-Ra)
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.
Published in Scientific reports (13.12.2021)
Published in Scientific reports (13.12.2021)
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Revealing the role of SPP1 + macrophages in glioma prognosis and therapeutic targeting by investigating tumor-associated macrophage landscape in grade 2 and 3 gliomas
Tang, Wenshu, Lo, Cario W S, Ma, Wei, Chu, Annie T W, Tong, Amy H Y, Chung, Brian H Y
Published in Cell & bioscience (21.03.2024)
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Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants
Lee, Mianne, Lui, Adrian C. Y., Chan, Joshua C. K., Doong, Phoenix H. L., Kwong, Anna K. Y., Mak, Christopher C. Y., Li, Raymond H. W., Kan, Anita S. Y., Chung, Brian H. Y.
Published in Human genomics (05.10.2023)
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The different facets of “culture” in genetic counseling: A situated analysis of genetic counseling in Hong Kong
Zayts, Olga, Shipman, Hannah, Fung, Jasmine L.‐F., Liu, Anthony P.‐Y., Kwok, Sit‐Yee, Tsai, Anne C.‐H., Yung, Tak‐Cheung, Chung, Brian H.‐Y.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.06.2019)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.06.2019)
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Whole-genome array CGH evaluation for replacing prenatal karyotyping in Hong Kong
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
Published in PloS one (05.02.2014)
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Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept
Lee, Mianne, Kwong, Anna K. Y., Chui, Martin M. C., Chau, Jeffrey F. T., Mak, Christopher C. Y., Au, Sandy L. K., Lo, Hei Man, Chan, Kelvin Y. K., Yépez, Vicente A., Gagneur, Julien, Kan, Anita S. Y., Chung, Brian H. Y.
Published in Npj genomic medicine (28.12.2022)
Published in Npj genomic medicine (28.12.2022)
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The clinical impact of chromosomal microarray on paediatric care in Hong Kong
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
Published in PloS one (15.10.2014)
Published in PloS one (15.10.2014)
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A fatal case of COQ7‐associated primary coenzyme Q10 deficiency
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
Published in JIMD reports (01.05.2019)
Published in JIMD reports (01.05.2019)
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22q11.2 deletion syndrome in diverse populations
Kruszka, Paul, Addissie, Yonit A., McGinn, Daniel E., Porras, Antonio R., Biggs, Elijah, Share, Matthew, Crowley, T. Blaine, Chung, Brian H. Y., Mok, Gary T. K., Mak, Christopher C. Y., Muthukumarasamy, Premala, Thong, Meow‐Keong, Sirisena, Nirmala D., Dissanayake, Vajira H. W., Paththinige, C. Sampath, Prabodha, L. B. Lahiru, Mishra, Rupesh, Shotelersuk, Vorasuk, Ekure, Ekanem Nsikak, Sokunbi, Ogochukwu Jidechukwu, Kalu, Nnenna, Ferreira, Carlos R., Duncan, Jordann‐Mishael, Patil, Siddaramappa Jagdish, Jones, Kelly L., Kaplan, Julie D., Abdul‐Rahman, Omar A., Uwineza, Annette, Mutesa, Leon, Moresco, Angélica, Obregon, María Gabriela, Richieri‐Costa, Antonio, Gil‐da‐Silva‐Lopes, Vera L., Adeyemo, Adebowale A., Summar, Marshall, Zackai, Elaine H., McDonald‐McGinn, Donna M., Linguraru, Marius George, Muenke, Maximilian
Published in American journal of medical genetics. Part A (01.04.2017)
Published in American journal of medical genetics. Part A (01.04.2017)
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Access and Unmet Needs of Orphan Drugs in 194 Countries and 6 Areas: A Global Policy Review With Content Analysis
Chan, Adrienne Y.L., Chan, Vivien K.Y., Olsson, Sten, Fan, Min, Jit, Mark, Gong, Mengchun, Zhang, Shuyang, Ge, Mengqin, Pathadka, Swathi, Chung, Claudia C.Y., Chung, Brian H.Y., Chui, Celine S.L., Chan, Esther W., Wong, Gloria H.Y., Lum, Terry Y., Wong, Ian C.K., Ip, Patrick, Li, Xue
Published in Value in health (01.12.2020)
Published in Value in health (01.12.2020)
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A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis
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.
Published in Npj genomic medicine (10.09.2020)
Published in Npj genomic medicine (10.09.2020)
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Rare SUZ12 variants commonly cause an overgrowth phenotype
Cyrus, Sharri S., Cohen, Ana S. A., Agbahovbe, Ruky, Avela, Kristiina, Yeung, Kit S., Chung, Brian H. Y., Luk, Ho‐Ming, Tkachenko, Nataliya, Choufani, Sanaa, Weksberg, Rosanna, Lopez‐Rangel, Elena, Brown, Kathleen, Saenz, Margarita S., Svihovec, Shayna, McCandless, Shawn E., Bird, Lynne M., Garcia, Aixa Gonzalez, Gambello, Michael J., McWalter, Kirsty, Schnur, Rhonda E., An, Jianghong, Jones, Steven J. M., Bhalla, Sanjiv K., Pinz, Hailey, Braddock, Stephen R., Gibson, William T.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2019)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2019)
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Down syndrome in diverse populations
Kruszka, Paul, Porras, Antonio R., Sobering, Andrew K., Ikolo, Felicia A., La Qua, Samantha, Shotelersuk, Vorasuk, Chung, Brian H. Y., Mok, Gary T. K., Uwineza, Annette, Mutesa, Leon, Moresco, Angélica, Obregon, María Gabriela, Sokunbi, Ogochukwu Jidechukwu, Kalu, Nnenna, Joseph, Daniel Akinsanya, Ikebudu, Desmond, Ugwu, Christopher Emeka, Okoromah, Christy A. N., Addissie, Yonit A., Pardo, Katherine L., Brough, J. Joseph, Lee, Ni‐Chung, Girisha, Katta M., Patil, Siddaramappa Jagdish, Ng, Ivy S. L., Min, Breana Cham Wen, Jamuar, Saumya S., Tibrewal, Shailja, Wallang, Batriti, Ganesh, Suma, Sirisena, Nirmala D., Dissanayake, Vajira H. W., Paththinige, C. Sampath, Prabodha, L. B. Lahiru, Richieri‐Costa, Antonio, Muthukumarasamy, Premala, Thong, Meow‐Keong, Jones, Kelly L., Abdul‐Rahman, Omar A., Ekure, Ekanem Nsikak, Adeyemo, Adebowale A., Summar, Marshall, Linguraru, Marius George, Muenke, Maximilian
Published in American journal of medical genetics. Part A (01.01.2017)
Published in American journal of medical genetics. Part A (01.01.2017)
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Evaluating High-Confidence Genes in Conotruncal Cardiac Defects by Gene Burden Analyses
Chui, Martin M C, Mak, Christopher C Y, Yu, Mullin H C, Wong, Sandra Y Y, Lun, Kin-Shing, Yung, Tak-Cheung, Kwong, Anna K Y, Chow, Pak-Cheong, Chung, Brian H Y
Published in Journal of the American Heart Association (21.02.2023)
Published in Journal of the American Heart Association (21.02.2023)
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O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum
Velmans, Clara, O'Donnell-Luria, Anne H, Argilli, Emanuela, Tran Mau-them, Frederic, Vitobello, Antonio, Chan, Marcus CY, Fung, Jasmine Lee-Fong, Rech, Megan, Abicht, Angela, Aubert Mucca, Marion, Carmichael, Jason, Chassaing, Nicolas, Clark, Robin, Coubes, Christine, Denommé-Pichon, Anne-Sophie, de Dios, John Karl, England, Eleina, Funalot, Benoit, Gerard, Marion, Joseph, Maries, Kennedy, Colleen, Kumps, Camille, Willems, Marjolaine, van de Laar, Ingrid M B.H, Aarts-Tesselaar, Coranne, van Slegtenhorst, Marjon, Lehalle, Daphné, Leppig, Kathleen, Lessmeier, Lennart, Pais, Lynn S, Paterson, Heather, Ramanathan, Subhadra, Rodan, Lance H, Superti-Furga, Andrea, Chung, Brian H.Y., Sherr, Elliott, Netzer, Christian, Schaaf, Christian P, Erger, Florian
Published in Journal of medical genetics (01.07.2022)
Published in Journal of medical genetics (01.07.2022)
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Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies
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.
Published in Scientific reports (05.02.2018)
Published in Scientific reports (05.02.2018)
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A case of G1013R FBN1 mutation: A potential genotype–phenotype correlation in severe Marfan syndrome
Willis, Brooke R., Lee, Mianne, Rethanavelu, Kavitha, Fung, Jasmine L. F., Wong, Rosanna M. S., Hui, Peter, Yeung, Kit S., Lo, Ivan F. M., Chung, Brian H. Y.
Published in American journal of medical genetics. Part A (01.06.2020)
Published in American journal of medical genetics. Part A (01.06.2020)
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Neuroimaging in Primary Coenzyme-Q10-Deficiency Disorders
Münch, Juliane, Prasuhn, Jannik, Laugwitz, Lucia, Fung, Cheuk-Wing, Chung, Brian H.-Y., Bellusci, Marcello, Mayatepek, Ertan, Klee, Dirk, Distelmaier, Felix
Published in Antioxidants (14.03.2023)
Published in Antioxidants (14.03.2023)
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Genome-Wide DNA Methylation Profiling as Frontline Diagnostics for Central Nervous System Embryonal Tumors in Hong Kong
Tam, Otto C. H, Ho, Ronnie S. L, Chan, Shing, Li, Kay K. W, Lam, Tit-Leung, Cheung, Elaine T. Y, Cheung, Oi-Yee, Ho, Wilson W. S, Cheng, Kevin K. F, Shing, Matthew M. K, Ku, Dennis T. L, Chung, Brian H. Y, Yang, Wanling, Chan, Godfrey C. F, Ng, Ho-Keung, Liu, Anthony P. Y
Published in Cancers (01.10.2023)
Published in Cancers (01.10.2023)
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Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES)
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
Published in BMC medical genomics (25.10.2018)
Published in BMC medical genomics (25.10.2018)
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