Client Service Receipt Inventory as a standardised tool for measurement of socio-economic costs in the rare genetic disease population (CSRI-Ra) von 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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Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES) von 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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Diagnostic value of whole‐exome sequencing in Chinese pediatric‐onset neuromuscular patients von 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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Characterization of additional genetic events in childhood acute lymphoblastic leukemia with TEL/AML1 gene fusion : a molecular cytogenetics study von MA, S. K, WAN, T. S. K, CHEUK, A. T. C, FUNG, L. F, CHAN, G. C. F, CHAN, S. Y, HA, S. Y, CHAN, L. C

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Reply: MN1 gene loss-of-function mutation causes cleft palate in a pedigree von 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

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Evaluating the Health-Related Quality of Life of the Rare Disease Population in Hong Kong Using EQ-5D 3-Level von 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.

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Further expanding the clinical phenotype in Bainbridge-Ropers syndrome and dissecting genotype-phenotype correlation in the ASXL3 mutational cluster regions von Yu, Kris Pui-Tak, Luk, Ho-Ming, Fung, Jasmine L.F., Chung, Brian Hon-Yin, Lo, Ivan Fai-Man

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A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35 von 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.

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Clinical and molecular features of pleuropulmonary blastoma in children in Hong Kong: case reports von Anthony PY Liu, Fung, Marcus KL, Lee, Mianne, Fung, Jasmine LF, Tsang, Mandy HY, Luk, C W, Chung, Brian HY, Chan, Godfrey CF

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Coffin–Lowry syndrome in Chinese von Fung, Jasmine L. F., Rethanavelu, Kavitha, Luk, Ho‐ming, Ho, Matthew S. P., Lo, Ivan F. M., Chung, Brian H. Y.

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Understanding and perception of direct‐to‐consumer genetic testing in Hong Kong von 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

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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 von 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 von 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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Memories of Tiananmen: Politics and Processes of Collective Remembering in Hong Kong, 1989-2019 von Lee, Francis

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Impact of COVID-19 pandemic on patients with rare disease in Hong Kong von Chung, Claudia CY, Wong, Wilfred HS, Fung, Jasmine LF, Hong Kong, Rare Disease, Chung, Brian HY

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Rubinstein-Taybisyndrome in diverse populations von Tekendo-Ngongang, Cedrik, Owosela, Babajide, Fleischer, Nicole, Addissie, Yonit A., Malonga, Bryan, Badoe, Ebenezer, Gupta, Neerja, Moresco, Angelica, Huckstadt, Victoria, Ashaat, Engy A., Hussen, Dalia Farouk, Luk, Ho-Ming, Lo, Ivan F. M., Hon-Yin Chung, Brian, Fung, Jasmine L. F., Moretti-Ferreira, Danilo, Batista, Leticia Cassimiro, Lotz-Esquivel, Stephanie, Saborio-Rocafort, Manuel, Badilla-Porras, Ramses, Penon Portmann, Monica, Jones, Kelly L., Abdul-Rahman, Omar A., Uwineza, Annette, Prijoles, Eloise J., Ifeorah, Ifeanyi Kanayo, Llamos Paneque, Arianne, Sirisena, Nirmala D., Dowsett, Leah, Lee, Sansan, Cappuccio, Gerarda, Kitchin, Carolyn Sian, Diaz-Kuan, Alicia, Thong, Meow-Keong, Obregon, Maria Gabriela, Mutesa, Leon, Dissanayake, Vajira H. W., El Ruby, Mona O., Brunetti-Pierri, Nicola, Ekure, Ekanem Nsikak, Stevenson, Roger E., Muenke, Maximilian, Kruszka, Paul

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Understanding and perception of direct-to-consumer genetic testing in Hong Kong von 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

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What is the Diagnosis? von Hui, V. C. C., Fung, J. L. F., Luk, H. M., Chung, B. H. Y.

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Memories of Tiananmen: Politics and Processes of Collective Remembering in Hong Kong, 1989–2019 von Lee, Francis

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Identifying the genetic causes for prenatally diagnosed structural congenital anomalies von 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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