Angelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative Cases

Por Luk, Ho-Ming
Publicado no Case Rep Genet (2016)

Silver–Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis

Por Luk, Ho‐Ming, Ivan Lo, Fai‐Man, Sano, Shinichiro, Matsubara, Keiko, Nakamura, Akie, Ogata, Tsutomu, Kagami, Masayo
Publicado no Am J Med Genet A (2016)

A novel mutation in the SRY gene causing 46 XY complete gonadal dysgenesis in a Chinese patient

Por Man, Elim, Tung, Yuet-Ling, Luk, Ho-Ming, Lo, Fai-Man Ivan, Lam, Tak-Sum Stephen, Cheung, Pik-To
Publicado em 2013

A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype

Por Edwards, Jonathan J., Martinelli, Simone, Pannone, Luca, Lo, Ivan Fai-Man, Shi, Lisong, Edelmann, Lisa, Tartaglia, Marco, Luk, Ho-Ming, Gelb, Bruce D.
Publicado em 2014

Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in a Chinese cohort

Por Chong, Wilson Wai Sing, Lo, Ivan Fai Man, Lam, Stephen Tak Sum, Wang, Chi Chiu, Luk, Ho Ming, Leung, Tak Yeung, Choy, Kwong Wai
Publicado em 2014

Identification of a PTEN mutation with reduced protein stability, phosphatase activity, and nuclear localization in Hong Kong patients with autistic features, neurodevelopmental de...

Por Wong, Chi Wai, Or, Penelope Mei Yu, Wang, Yubing, Li, Lisha, Li, Jing, Yan, Mingfei, Cao, Ye, Luk, Ho Ming, Tong, Tony Ming For, Leslie, Nick R., Lo, Ivan Fai‐Man, Choy, Kwong Wai, Chan, Andrew Man Lok
Publicado no Autism Res (2018)

Further delineation of the KAT6B molecular and phenotypic spectrum

Por 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 FM, Smith, Janine, Clayton-Smith, Jill
Publicado no Eur J Hum Genet (2015)

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Por Oates, Emily C., Jones, Kristi J., Donkervoort, Sandra, Charlton, Amanda, Brammah, Susan, Smith, John E., Ware, James S., Yau, Kyle S., Swanson, Lindsay C., Whiffin, Nicola, Peduto, Anthony J., Bournazos, Adam, Waddell, Leigh B., Farrar, Michelle A., Sampaio, Hugo A., Teoh, Hooi Ling, Lamont, Phillipa J., Mowat, David, Fitzsimons, Robin B., Corbett, Alastair J., Ryan, Monique M., O'Grady, Gina L., Sandaradura, Sarah A., Ghaoui, Roula, Joshi, Himanshu, Marshall, Jamie L., Nolan, Melinda A., Kaur, Simranpreet, Punetha, Jaya, Töpf, Ana, Harris, Elizabeth, Bakshi, Madhura, Genetti, Casie A., Marttila, Minttu, Werlauff, Ulla, Streichenberger, Nathalie, Pestronk, Alan, Mazanti, Ingrid, Pinner, Jason R., Vuillerot, Carole, Grosmann, Carla, Camacho, Ana, Mohassel, Payam, Leach, Meganne E., Foley, A. Reghan, Bharucha‐Goebel, Diana, Collins, James, Connolly, Anne M., Gilbreath, Heather R., Iannaccone, Susan T., Castro, Diana, Cummings, Beryl B., Webster, Richard I., Lazaro, Leïla, Vissing, John, Coppens, Sandra, Deconinck, Nicolas, Luk, Ho‐Ming, Thomas, Neil H., Foulds, Nicola C., Illingworth, Marjorie A., Ellard, Sian, McLean, Catriona A., Phadke, Rahul, Ravenscroft, Gianina, Witting, Nanna, Hackman, Peter, Richard, Isabelle, Cooper, Sandra T., Kamsteeg, Erik‐Jan, Hoffman, Eric P., Bushby, Kate, Straub, Volker, Udd, Bjarne, Ferreiro, Ana, North, Kathryn N., Clarke, Nigel F., Lek, Monkol, Beggs, Alan H., Bönnemann, Carsten G., MacArthur, Daniel G., Granzier, Henk, Davis, Mark R., Laing, Nigel G.
Publicado no Ann Neurol (2018)