Oculopharyngeal muscular dystrophy: underdiagnosed disease in Hong Kong von Luk, HM, Lo, Ivan FM, Fu, KH, Lui, Colin HT, Tong, Tony MF, Chan, Daniel HC, Lam, Stephen TS

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235 Genotype/phenotype correlations in 125 Chinese patients with tuberous sclerosis: a 29 years’ experience in hong kong von Lik NG, Samuel Yan, Lo, Ivan FM, Luk, Ho-Ming

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Familial patellar dislocation associated with t(15;20) (q24;q13.1) von Chan, CM Jimmy, Chau, YM Jackie, Woo, SB, Luk, HM, Lo, Ivan FM

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Detecting structural variations with precise breakpoints using low-depth WGS data from a single oxford nanopore MinION flowcell von Leung, Henry C. M., Yu, Huijing, Zhang, Yifan, Leung, Wing Sze, Lo, Ivan F. M., Luk, Ho Ming, Law, Wai-Chun, Ma, Ka Kui, Wong, Chak Lim, Wong, Yat Sing, Luo, Ruibang, Lam, Tak-Wah

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Williams–Beuren syndrome in diverse populations von Kruszka, Paul, Porras, Antonio R., de Souza, Deise Helena, Moresco, Angélica, Huckstadt, Victoria, Gill, Ashleigh D., Boyle, Alec P., Hu, Tommy, Addissie, Yonit A., Mok, Gary T. K., Tekendo‐Ngongang, Cedrik, Fieggen, Karen, Prijoles, Eloise J., Tanpaiboon, Pranoot, Honey, Engela, Luk, Ho‐Ming, Lo, Ivan F. M., Thong, Meow‐Keong, Muthukumarasamy, Premala, Jones, Kelly L., Belhassan, Khadija, Ouldim, Karim, El Bouchikhi, Ihssane, Bouguenouch, Laila, Shukla, Anju, Girisha, Katta M., Sirisena, Nirmala D., Dissanayake, Vajira H. W., Paththinige, C. Sampath, Mishra, Rupesh, Kisling, Monisha S., Ferreira, Carlos R., de Herreros, María Beatriz, Lee, Ni‐Chung, Jamuar, Saumya S., Lai, Angeline, Tan, Ee Shien, Ying Lim, Jiin, Wen‐Min, Cham Breana, Gupta, Neerja, Lotz‐Esquivel, Stephanie, Badilla‐Porras, Ramsés, Hussen, Dalia Farouk, El Ruby, Mona O., Ashaat, Engy A., Patil, Siddaramappa J., Dowsett, Leah, Eaton, Alison, Innes, A. Micheil, Shotelersuk, Vorasuk, Badoe, Ëben, Wonkam, Ambroise, Obregon, María Gabriela, Chung, Brian H. Y., Trubnykova, Milana, La Serna, Jorge, Gallardo Jugo, Bertha Elena, Chávez Pastor, Miguel, Abarca Barriga, Hugo Hernán, Megarbane, Andre, Kozel, Beth A., van Haelst, Mieke M., Stevenson, Roger E., Summar, Marshall, Adeyemo, A. Adebowale, Morris, Colleen A., Moretti‐Ferreira, Danilo, Linguraru, Marius George, Muenke, Maximilian

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ACVR1 mutation and Fibrodysplasia Ossificans Progressiva in Chinese children von Ho, Assunta CH, Hui, Joannie, Chan, KH, Liu, KL, Ng, Bobby KW, Lo, Ivan FM, Lam, STS

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Genotype/phenotype correlation in 123 Chinese patients with Tuberous Sclerosis Complex von Ng, Samuel YL, Luk, Ho-Ming, Hau, Edgar WL, Cheng, Shirley SW, Yu, Kris PT, Ho, Stephanie, Mok, Myth TS, Lo, Ivan FM

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Further delineation of the KAT6B molecular and phenotypic spectrum von Gannon, Tamsin, Perveen, Rahat, Schlecht, Hélene, Ramsden, Simon, Anderson, Beverley, Kerr, Bronwyn, Day, Ruth, Banka, Siddharth, Suri, Mohnish, Berland, Siren, Gabbett, Michael, Ma, Alan, Lyonnet, Stan, Cormier-Daire, Valerie, Yilmaz, Rüstem, Borck, Guntram, Wieczorek, Dagmar, Anderlid, Britt-Marie, Smithson, Sarah, Vogt, Julie, Moore-Barton, Heather, Simsek-Kiper, Pelin Ozlem, Maystadt, Isabelle, Destrée, Anne, Bucher, Jessica, Angle, Brad, Mohammed, Shehla, Wakeling, Emma, Price, Sue, Singer, Amihood, Sznajer, Yves, Toutain, Annick, Haye, Damien, Newbury-Ecob, Ruth, Fradin, Melanie, McGaughran, Julie, Tuysuz, Beyhan, Tein, Mark, Bouman, Katelijne, Dabir, Tabib, Van den Ende, Jenneke, Luk, Ho Ming, Pilz, Daniela T, Eason, Jacqueline, Davies, Sally, Reardon, Willie, Garavelli, Livia, Zuffardi, Orsetta, Devriendt, Koen, Armstrong, Ruth, Johnson, Diana, Doco-Fenzy, Martine, Bijlsma, Emilia, Unger, Sheila, Veenstra-Knol, Hermine E, Kohlhase, Jürgen, Lo, Ivan F M, Smith, Janine, Clayton-Smith, Jill

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Old and new perspectives on Neurofibromatosis type 1: Clinical and molecular characterization of 832 patients from a single centre over 16 years von Ho, Stephanie KL, Luk, Ho-ming, Ng, Samuel YL, Yu, Kris PT, Cheng, Shirley SW, Ng, Phoebe PY, Mok, Myth TS, Hau, Edgar WL, Lo, Ivan FM

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Lessons learnt from a genetic disease registry in Hong Kong von Lam, S T S, To, C H, Leung, K W, Yip, S P, Lo, I F M, Tsang, K P

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Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation von Gu, Shen, Posey, Jennifer E., Yuan, Bo, Carvalho, Claudia M.B., Luk, H.M., Erikson, Kelly, Lo, Ivan F.M., Leung, Gordon K.C., Pickering, Curtis R., Chung, Brian H.Y., Lupski, James R.

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Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features von Unger, Sheila, Lausch, Ekkehart, Rossi, Antonio, Mégarbané, Andre, Sillence, David, Alcausin, Melanie, Aytes, Antonio, Mendoza-Londono, Roberto, Nampoothiri, Sheela, Afroze, Bushra, Hall, Bryan, Lo, Ivan F.M., Lam, Stephen T.S., Hoefele, Julia, Rost, Imma, Wakeling, Emma, Mangold, Elisabeth, Godbole, Komudi, Vatanavicharn, Nithiwat, Franco, Luis M., Chandler, Kate, Hollander, Sophia, Velten, Tanja, Reicherter, Kerstin, Spranger, Jürgen, Robertson, Stephen, Bonafé, Luisa, Zabel, Bernhard, Superti-Furga, Andrea

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Infantile to late adulthood onset facioscapulohumeral dystrophy type 1: a case series von Leung, W Y, Luk, H M, Vardhanabhuti, V, Gao, Y, Hui, K F, Lau, W Y, Young, T P H, Li, J T C, Fung, E L W, Chiu, A T G, Lo, I F M, Chung, B H Y, Cheung, Y F, Chan, S H S

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Genetic profile and clinical application of chromosomal microarray in children with intellectual disability in Hong Kong von Chan, P Yt, Luk, H M, Lee, F My, Lo, I Fm

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Silver-Russell syndrome in Hong Kong von Luk, H M, Yeung, K S, Wong, W L, Chung, B Hy, Tong, T Mf, Lo, I Fm

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Birt-Hogg-Dubé syndrome: a rare cause of familial spontaneous pneumothorax von Luk, H M, Tong, T Mf, Lo, I Fm

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A second report of p.Pro986Leu variant in COL2A1-phenotypic overlap with SEDC and other forms of type II collagenopathies von Chung, Brian H.Y., Luk, Ho-ming, Lo, Ivan F.M., Lam, Stephen T.S., Li, Raymond H.W.

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The nail points to the diagnosis von Tong, Stephanie YK, Luk, HM, Tong, Tony MF, Lo, Ivan FM

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Spread of X inactivation on chromosome 15 is associated with a more severe phenotype in a girl with an unbalanced t(X; 15) translocation von Yeung, KS, Chee, YY, Luk, HM, Kan, Anita SY, Tang, Mary HY, Lau, Elizabeth T, Shuen, Andrew Y, Lo, Ivan FM, Chan, Kelvin YK, Chung, Brian HY

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SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype von Botzenhart, Elke M., Green, Andrew, Ilyina, Helena, König, Rainer, Lowry, R. Brian, Lo, Ivan F. M., Shohat, Mordechai, Burke, Leah, McGaughran, Julie, Chafai, Ronit, Pierquin, Geneviève, Michaelis, Ron C, Whiteford, Margo L., Simola, Kalle O. J., Rösler, Bernd, Kohlhase, Jürgen

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