CTNNB1‐related neurodevelopmental disorder in a Chinese population: A case series von Ho, Stephanie, Tsang, Mandy Ho‐Yin, Fung, Jasmine Lee‐Fong, Huang, Haibo, Chow, Chun‐Bong, Cheng, Shirley Sze‐Wing, Luk, Ho‐Ming, Chung, Brian Hon‐Yin, Lo, Ivan Fai‐Man

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Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly von Chai, Guoliang, Webb, Alice, Li, Chen, Antaki, Danny, Lee, Sangmoon, Breuss, Martin W., Lang, Nhi, Stanley, Valentina, Anzenberg, Paula, Yang, Xiaoxu, Marshall, Trevor, Gaffney, Patrick, Wierenga, Klaas J., Chung, Brian Hon-Yin, Tsang, Mandy Ho-Yin, Pais, Lynn S., Lovgren, Alysia Kern, VanNoy, Grace E., Rehm, Heidi L., Mirzaa, Ghayda, Leon, Eyby, Diaz, Jullianne, Neumann, Alexander, Kalverda, Arnout P., Manfield, Iain W., Parry, David A., Logan, Clare V., Johnson, Colin A., Bonthron, David T., Valleley, Elizabeth M.A., Issa, Mahmoud Y., Abdel-Ghafar, Sherif F., Abdel-Hamid, Mohamed S., Jennings, Patricia, Zaki, Maha S., Sheridan, Eamonn, Gleeson, Joseph G.

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Elements of morphology: Standard terminology for the trunk and limbs von Biesecker, Leslie G., Adam, Margaret P., Chung, Brian Hon‐Yin, Kosaki, Kenjiro, Menke, Leonie A., White, Susan M., Carey, John C., Hennekam, Raoul C. M.

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Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism von Yeung, Kit San, Tso, Winnie Wan Yee, Ip, Janice Jing Kun, Mak, Christopher Chun Yu, Leung, Gordon Ka Chun, Tsang, Mandy Ho Yin, Ying, Dingge, Pei, Steven Lim Cho, Lee, So Lun, Yang, Wanling, Chung, Brian Hon-Yin

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Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects von Pagnamenta, Alistair T., Jackson, Adam, Perveen, Rahat, Beaman, Glenda, Petts, Gemma, Gupta, Asheeta, Hyder, Zerin, Chung, Brian Hon‐Yin, Kan, Anita Sik‐Yau, Cheung, Ka Wang, Kerstjens‐Frederikse, Wilhelmina S., Abbott, Kristin M., Elpeleg, Orly, Taylor, Jenny C., Banka, Siddharth, Ta‐Shma, Asaf

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A case report of multicentric carpotarsal osteolysis syndrome: Depiction of a debilitating disease course von Li, Jennifer Yee‐ming, Ho, Fanny Tsz‐wai, Lee, Mianne, Chan, Joyce, Chung, Brian Hon‐yin, Tung, Joanna Yuet‐ling, Ma, Alison Lap‐tak

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Elicitation of children’s understanding of information in pediatric genetic counseling encounters: A discourse‐oriented perspective von Hui, Andy Lok Chung, Zayts‐Spence, Olga, Chung, Brian Hon‐Yin

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NGS4THAL, a One-Stop Molecular Diagnosis and Carrier Screening Tool for Thalassemia and Other Hemoglobinopathies by Next-Generation Sequencing von Cao, Yujie, Ha, Shau-yin, So, Chi-Chiu, Tong, Ming-for Tony, Tang, Clara Sze-man, Zhang, Huoru, Liang, Rui, Yang, Jing, Chung, Brian Hon-Yin, Chan, Godfrey Chi-Fung, Lau, Yu Lung, Garcia-Barcelo, Maria-Mercè, Ma, Edmond Shiu-Kwan, Sucharitchan, Pranee, Hirankarn, Nattiya, Yang, Wanling

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Mowat–Wilson syndrome in a Chinese population: A case series von Ho, Stephanie, Luk, Ho‐Ming, Chung, Brian Hon‐Yin, Fung, Jasmine Lee‐Fong, Mak, Harriet Hang‐Yee, Lo, Ivan F. M.

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Prenatal and postnatal diagnosis of Schuurs‐Hoeijmakers syndrome: Case series and review of the literature von Seto, Mimi Tin‐Yan, Bertoli‐Avella, Aida M., Cheung, Ka Wang, Chan, Kelvin Yuen‐Kwong, Yeung, Kit San, Fung, Jasmine Lee‐Fong, Beetz, Christian, Bauer, Peter, Luk, Ho Ming, Lo, Ivan Fai‐Man, Lee, Chin Peng, Chung, Brian Hon‐Yin, Kan, Anita Sik‐Yau

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Genome-Wide DNA Methylation Analysis of Chinese Patients with Systemic Lupus Erythematosus Identified Hypomethylation in Genes Related to the Type I Interferon Pathway von Yeung, Kit San, Chung, Brian Hon-Yin, Choufani, Sanaa, Mok, Mo Yin, Wong, Wai Lap, Mak, Christopher Chun Yu, Yang, Wanling, Lee, Pamela Pui Wah, Wong, Wilfred Hing Sang, Chen, Yi-An, Grafodatskaya, Daria, Wong, Raymond Woon Sing, Lau, Chak Sing, Chan, Daniel Tak Mao, Weksberg, Rosanna, Lau, Yu-Lung

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Exome sequencing in paediatric patients with movement disorders von Kwong, Anna Ka-Yee, Tsang, Mandy Ho-Yin, Fung, Jasmine Lee-Fong, Mak, Christopher Chun-Yu, Chan, Kate Lok-San, Rodenburg, Richard J T, Lek, Monkol, Huang, Shushu, Pajusalu, Sander, Yau, Man-Mut, Tsoi, Cheung, Fung, Sharon, Liu, Kam-Tim, Ma, Che-Kwan, Wong, Sheila, Yau, Eric Kin-Cheong, Tai, Shuk-Mui, Fung, Eva Lai-Wah, Wu, Nick Shun-Ping, Tsung, Li-Yan, Smeitink, Jan, Chung, Brian Hon-Yin, Fung, Cheuk-Wing

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Mosaic KRAS mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension von McDonell, Laura M., Leung, Gordon Ka‐Chun, Daoud, Hussein, Ip, Janice, Chim, Stella, Luk, Ho Ming, Lan, Lawrence, Boycott, Kym M., Chung, Brian Hon‐Yin

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Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese von Yu, Mullin Ho-Chung, Tsang, Mandy Ho-Yin, Lai, Sophie, Ho, Matthew Sai-Pong, Tse, Donald M. L., Willis, Brooke, Kwong, Anna Ka-Yee, Chou, Yen-Yin, Lin, Shuan-Pei, Quinzii, Catarina M, Hwu, Wuh-Liang, Chien, Yin-Hsiu, Kuo, Pao-Lin, Chan, Victor Chi-Man, Tsoi, Cheung, Chong, Shuk-Ching, Rodenburg, Richard J. T., Smeitink, Jan, Mak, Christopher Chun-Yu, Yeung, Kit-San, Fung, Jasmine Lee-Fong, Lam, Wendy, Hui, Joannie, Lee, Ni-Chung, Fung, Cheuk‐Wing, Chung, Brian Hon-Yin

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Parental decisions following prenatal diagnosis of sex chromosome aneuploidy in Hong Kong von So, Po Lam, Cheng, Kwun Yue Yvonne, Cheuk, Kwan Yiu, Chiu, Wan Kam, Mak, Shui Lam, Mok, Sau Lan, Lo, Tsz Kin, Yung, Wai Kuen, Lo, Fai Man, Chung, Hon Yin Brian, Kan, Sik Yau Anita, Lee, Chin Peng, Tang, Hoi Yin Mary

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Actionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing data von Yu, Mullin Ho Chung, Mak, Christopher Chun Yu, Fung, Jasmine Lee Fong, Lee, Mianne, Tsang, Mandy Ho Yin, Chau, Jeffrey Fong Ting, Chung, Patrick Ho-Yu, Yang, Wanling, Chan, Godfrey Chi Fung, Lee, So Lun, Lau, Yu Lung, Tam, Paul Kwong Hang, Tang, Clara Sze Man, Yeung, Kit San, Chung, Brian Hon Yin

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Somatic PIK3CA mutations in seven patients with PIK3CA‐related overgrowth spectrum von Yeung, Kit San, Ip, Janice Jing Kun, Chow, Chin Pang, Kuong, Evelyn Yue Ling, Tam, Paul Kwong‐Hang, Chan, Godfrey Chi‐Fung, Chung, Brian Hon‐Yin

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Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes von Marchegiani, Shannon, Davis, Taylor, Tessadori, Federico, van Haaften, Gijs, Brancati, Francesco, Hoischen, Alexander, Huang, Haigen, Valkanas, Elise, Pusey, Barbara, Schanze, Denny, Venselaar, Hanka, Vulto-van Silfhout, Anneke T., Wolfe, Lynne A., Tifft, Cynthia J., Zerfas, Patricia M., Zambruno, Giovanna, Kariminejad, Ariana, Sabbagh-Kermani, Farahnaz, Lee, Janice, Tsokos, Maria G., Lee, Chyi-Chia R., Ferraz, Victor, da Silva, Eduarda Morgana, Stevens, Cathy A., Roche, Nathalie, Bartsch, Oliver, Farndon, Peter, Bermejo-Sanchez, Eva, Brooks, Brian P., Maduro, Valerie, Dallapiccola, Bruno, Ramos, Feliciano J., Chung, Hon-Yin Brian, Le Caignec, Cédric, Martins, Fabiana, Jacyk, Witold K., Mazzanti, Laura, Brunner, Han G., Bakkers, Jeroen, Lin, Shuo, Malicdan, May Christine V., Boerkoel, Cornelius F., Gahl, William A., de Vries, Bert B.A., van Haelst, Mieke M., Zenker, Martin, Markello, Thomas C.

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Fournier's gangrene: A 10‐year review and validation of mortality predictors in a Hong Kong major regional centre von Chan, Brian Yin‐On, Wong, Ben Wui‐Bun, Lo, Kelly Ka‐Yee, Yim, Carmen, Tse, Cyrus Tak‐Yin

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Rare versus common diseases: a false dichotomy in precision medicine von Chung, Brian Hon Yin, Chau, Jeffrey Fong Ting, Wong, Gane Ka-Shu

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