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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Journal Article
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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Journal Article
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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Journal Article
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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Journal Article
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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Journal Article
Diagnostic value of whole‐exome sequencing in Chinese pediatric‐onset neuromuscular patients
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.
Published in Molecular genetics & genomic medicine (01.05.2020)
Published in Molecular genetics & genomic medicine (01.05.2020)
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Journal Article
The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes
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.
Published in Molecular genetics & genomic medicine (01.07.2020)
Published in Molecular genetics & genomic medicine (01.07.2020)
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Journal Article
Reply: MN1 gene loss-of-function mutation causes cleft palate in a pedigree
Vegas, Nancy, Low, Karen, Mak, Christopher C Y, Fung, Jasmine L F, Hing, Anne V, Chung, Brian H Y, Doherty, Dan, Amiel, Jeanne, Gordon, Christopher T
Published in Brain (London, England : 1878) (03.03.2021)
Published in Brain (London, England : 1878) (03.03.2021)
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Refractory thrombocytopenia and myelofibrosis in a novel KDSR mutation: Case report and literature review
Wong, G. Y., Hung, Zita G. K., Ho, Karin K. H., Ling, S. C., Fung, Jasmine L. F., Lee, Mianne, Chau, Jeffrey F. T., Ha, S. Y., Chung, Brian H. Y.
Published in Pediatric blood & cancer (01.04.2023)
Published in Pediatric blood & cancer (01.04.2023)
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Journal Article
Further expanding the clinical phenotype in Bainbridge-Ropers syndrome and dissecting genotype-phenotype correlation in the ASXL3 mutational cluster regions
Yu, Kris Pui-Tak, Luk, Ho-Ming, Fung, Jasmine L.F., Chung, Brian Hon-Yin, Lo, Ivan Fai-Man
Published in European journal of medical genetics (01.01.2021)
Published in European journal of medical genetics (01.01.2021)
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Journal Article
Evaluating the Health-Related Quality of Life of the Rare Disease Population in Hong Kong Using EQ-5D 3-Level
Ng, Yvette N.C., Ng, Nicole Y.T., Fung, Jasmine L.F., Lui, Adrian C.Y., Cheung, Nicholas Y.C., Wong, Wilfred H.S., Lee, So Lun, Knapp, Martin, Chung, Claudia C.Y., Chung, Brian H.Y.
Published in Value in health (01.09.2022)
Published in Value in health (01.09.2022)
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Journal Article
Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome
Rethanavelu, Kavitha, Fung, Jasmine L. F., Chau, Jeffrey F. T., Pei, Steven L. C., Chung, Claudia C. Y., Mak, Christopher C. Y., Luk, Ho M., Chung, Brian H. Y.
Published in American journal of medical genetics. Part A (01.02.2020)
Published in American journal of medical genetics. Part A (01.02.2020)
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Journal Article
A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35
Fung, Jasmine L.F., Tsang, Mandy H.Y., Leung, Gordon K.C., Yeung, Kit San, Mak, Christopher C.Y., Fung, Cheuk Wing, Chan, Sophelia H.S., Yu, Mullin H.C., Chung, Brian H.Y.
Published in Parkinsonism & related disorders (01.06.2019)
Published in Parkinsonism & related disorders (01.06.2019)
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Journal Article
Coffin–Lowry syndrome in Chinese
Fung, Jasmine L. F., Rethanavelu, Kavitha, Luk, Ho‐ming, Ho, Matthew S. P., Lo, Ivan F. M., Chung, Brian H. Y.
Published in American journal of medical genetics. Part A (01.10.2019)
Published in American journal of medical genetics. Part A (01.10.2019)
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Journal Article
Understanding and perception of direct‐to‐consumer genetic testing in Hong Kong
Hui, Vivian C. C., Li, H. C., Chow, Josh H. K., Ng, Chris S. C., Lui, Constance Y. W., Fung, Jasmine L. F., Mak, Christopher C.Y., Chung, Brian H. Y., Lau, Kui Kai
Published in Journal of genetic counseling (01.12.2021)
Published in Journal of genetic counseling (01.12.2021)
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Journal Article
Socio-economic costs of rare diseases and the risk of financial hardship: a cross-sectional study
Chung, Claudia C.Y., Ng, Nicole Y.T., Ng, Yvette N.C., Lui, Adrian C.Y., Fung, Jasmine L.F., Chan, Marcus C.Y., Wong, Wilfred H.S., Lee, So Lun, Knapp, Martin, Chung, Brian H.Y.
Published in The Lancet regional health. Western Pacific (01.05.2023)
Published in The Lancet regional health. Western Pacific (01.05.2023)
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Journal Article
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability
Tan, Natalie B, Pagnamenta, Alistair T, Ferla, Matteo P, Gadian, Jonathan, Chung, Brian HY, Chan, Marcus CY, Fung, Jasmine LF, Cook, Edwin, Guter, Stephen, Boschann, Felix, Heinen, Andre, Schallner, Jens, Mignot, Cyril, Keren, Boris, Whalen, Sandra, Sarret, Catherine, Mittag, Dana, Demmer, Laurie, Stapleton, Rachel, Saida, Ken, Matsumoto, Naomichi, Miyake, Noriko, Sheffer, Ruth, Mor-Shaked, Hagar, Barnett, Christopher P, Byrne, Alicia B, Scott, Hamish S, Kraus, Alison, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Iorio, Raffaele, Di Dato, Fabiola, Pais, Lynn S, Yeung, Alison, Tan, Tiong Y, Taylor, Jenny C, Christodoulou, John, White, Susan M
Published in Journal of medical genetics (01.05.2022)
Published in Journal of medical genetics (01.05.2022)
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Journal Article
Clinical and molecular features of pleuropulmonary blastoma in children in Hong Kong: case reports
Anthony PY Liu, Fung, Marcus KL, Lee, Mianne, Fung, Jasmine LF, Tsang, Mandy HY, Luk, C W, Chung, Brian HY, Chan, Godfrey CF
Published in Hong Kong medical journal = Xianggang yi xue za zhi (01.08.2022)
Published in Hong Kong medical journal = Xianggang yi xue za zhi (01.08.2022)
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Journal Article
Importance of cascade family screening and precision medicine for patients with familial hyperkalaemia: a case report
Lam, H Y, Chan, E Y H, Tung, J Y L, Lee, S L K, Fung, J L F, Lee, M, Chung, B H Y, Ma, A L T
Published in Hong Kong medical journal = Xianggang yi xue za zhi (01.10.2022)
Published in Hong Kong medical journal = Xianggang yi xue za zhi (01.10.2022)
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