Client Service Receipt Inventory as a standardised tool for measurement of socio-economic costs in the rare genetic disease population (CSRI-Ra)

Autor: 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

Publikováno v: Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)

Abstract The measurement of costs is fundamental in healthcare decision-making, but it is often challenging. In particular, standardised methods have not been developed in the rare genetic disease population. A reliable and valid tool is critical for

Externí odkaz: https://doaj.org/article/4efed92bdf984270ad8f041bdb5d02a0

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

Autor: 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

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 8, Iss 5, Pp n/a-n/a (2020)

Abstract Background Neuromuscular disorders (NMDs) comprise a group of heterogeneous genetic diseases with a broad spectrum of overlapping the clinical presentations that makes diagnosis challenging. Notably, the recent introduction of whole‐exome

Externí odkaz: https://doaj.org/article/5a0b380eb4b7467591756076bbbcdea8

Clinical implications of mosaicism: a 10-year retrospective review of 83 families in a university-affiliated genetics clinic

Autor: Mianne, Lee, Adrian C Y, Lui, Christopher C Y, Mak, Mandy H Y, Tsang, Jasmine L F, Fung, K S, Yeung, Brian Hon Yin, Chung

Publikováno v: Clinical Dysmorphology. 31:113-124

Mosaicism refers to the coexistence of two or more genetically distinct cell populations in an individual from a single fertilized egg. We performed a retrospective analysis of all patients diagnosed with mosaic disorders between 2010 and 2021 in a u

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf976502661d9c5e9201dc19477ebf16
https://doi.org/10.1097/mcd.0000000000000418

‘Do language and culture really matter?’: A trans‐disciplinary investigation of cultural diversity in genetic counseling in Hong Kong

Autor: Jasmine L. F. Fung, Olga Zayts-Spence, Brian H.Y. Chung

Publikováno v: Journal of Genetic Counseling. 30:75-84

In this paper, we present evidence that in counseling culturally diverse patients, differences in spoken language and cultural beliefs of the patients and genetic counseling professionals do not necessarily impede successful counseling. We also highl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98080719e8a34bcc51f93eab1b6586a7
https://doi.org/10.1002/jgc4.1385

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 San¹ (AUTHOR), Yu, Florrie N. Y.² (AUTHOR), Fung, Cheuk Wing³ (AUTHOR), Wong, Sheila³ (AUTHOR), Lee, Hencher H. C.⁴ (AUTHOR), Fung, Sharon T. H.⁵ (AUTHOR), Fung, Genevieve P. G.⁶ (AUTHOR), Leung, Kwok Yin² (AUTHOR), Chung, Wai Hang⁷ (AUTHOR), Lee, Yun Ting⁸ (AUTHOR), Ng, Vivian K. S.⁹ (AUTHOR), Yu, Mullin H. C.¹ (AUTHOR), Fung, Jasmine L. F.¹ (AUTHOR), Tsang, Mandy H. Y.¹ (AUTHOR), Chan, Kelvin Y. K.^10,11 (AUTHOR), Chan, Sophelia H. S.¹ (AUTHOR) sophehs@hku.hk, Kan, Anita S. Y.^10,11 (AUTHOR) kansya@hku.hk, Chung, Brian H. Y.¹ (AUTHOR) bhychung@hku.hk

Publikováno v: Molecular Genetics & Genomic Medicine. Jul2020, Vol. 8 Issue 7, p1-7. 7p.