Client Service Receipt Inventory as a standardised tool for measurement of socio-economic costs in the rare genetic disease population (CSRI-Ra)
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.
Published in Scientific reports (13.12.2021)
Published in Scientific reports (13.12.2021)
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Case report: Treatment response of NF-1-associated bladder ganglioneuroma to trametinib
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A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis
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Published in Npj genomic medicine (10.09.2020)
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Socio-economic costs of rare diseases and the risk of financial hardship: a cross-sectional study
Chung, Claudia C.Y., Ng, Nicole Y.T., Ng, Yvette N.C., Lui, Adrian C.Y., Fung, Jasmine L.F., Chan, Marcus C.Y., Wong, Wilfred H.S., Lee, So Lun, Knapp, Martin, Chung, Brian H.Y.
Published in The Lancet regional health. Western Pacific (01.05.2023)
Published in The Lancet regional health. Western Pacific (01.05.2023)
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O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum
Velmans, Clara, O'Donnell-Luria, Anne H, Argilli, Emanuela, Tran Mau-them, Frederic, Vitobello, Antonio, Chan, Marcus CY, Fung, Jasmine Lee-Fong, Rech, Megan, Abicht, Angela, Aubert Mucca, Marion, Carmichael, Jason, Chassaing, Nicolas, Clark, Robin, Coubes, Christine, Denommé-Pichon, Anne-Sophie, de Dios, John Karl, England, Eleina, Funalot, Benoit, Gerard, Marion, Joseph, Maries, Kennedy, Colleen, Kumps, Camille, Willems, Marjolaine, van de Laar, Ingrid M B.H, Aarts-Tesselaar, Coranne, van Slegtenhorst, Marjon, Lehalle, Daphné, Leppig, Kathleen, Lessmeier, Lennart, Pais, Lynn S, Paterson, Heather, Ramanathan, Subhadra, Rodan, Lance H, Superti-Furga, Andrea, Chung, Brian H.Y., Sherr, Elliott, Netzer, Christian, Schaaf, Christian P, Erger, Florian
Published in Journal of medical genetics (01.07.2022)
Published in Journal of medical genetics (01.07.2022)
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Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
Satterstrom, F. Kyle, Breen, Michael S., Grove, Jakob, Klei, Lambertus, Xu, Xinyi, Norman, Utku, Brand, Harrison, Schwartz, Grace, Barbosa, Mafalda, Bybjerg-Grauholm, Jonas, Carracedo, Angel, Chiocchetti, Andreas G., Chung, Brian H.Y., Coon, Hilary, Cuccaro, Michael L., Dalla Bernardina, Bernardo, Domenici, Enrico, Dong, Shan, Freitag, Christine M., González-Peñas, Javier, Guter, Stephen, He, Xin, Herman, Gail E., Hertz-Picciotto, Irva, Hougaard, David M., Ionita-Laza, Iuliana, Jacob, Suma, Jamison, Jesslyn, Jugessur, Astanand, Kolevzon, Alexander, Kushima, Itaru, Lee, So Lun, Lehtimäki, Terho, Lim, Elaine T., Lipkin, W. Ian, Lopergolo, Diego, Lopes, Fátima, Ludena, Yunin, Maciel, Patricia, Meiri, Gal, Menashe, Idan, Miller, Judith, Montenegro, Eduarda M.S., Muglia, Pierandrea, Nordentoft, Merete, Ozaki, Norio, Palotie, Aarno, Parellada, Mara, Passos-Bueno, Maria Rita, Persico, Antonio M., Pessah, Isaac, Puura, Kaija, Renieri, Alessandra, Riberi, Evelise, Robinson, Elise B., Samocha, Kaitlin E., Sandin, Sven, Santangelo, Susan L., Schellenberg, Gerry, Scherer, Stephen W., Schmitt, Lauren, Silva, Isabela M.W., Singh, Tarjinder, Siper, Paige M., Soares, Gabriela, Susser, Ezra, Szatmari, Peter, Tang, Lara, Tassone, Flora, Teufel, Karoline, Trelles, Maria del Pilar, Werge, Thomas, Werling, Donna M., Wigdor, Emilie M., Yu, Mullin H.C., Zachi, Elaine, Agerbo, Esben, Als, Thomas Damm, Bækvad-Hansen, Marie, Belliveau, Rich, Cerrato, Felecia, Chambert, Kimberly, Churchhouse, Claire, Dumont, Ashley, Hansen, Christine S., Hauberg, Mads Engel, Hollegaard, Mads V., Howrigan, Daniel P., Maller, Julian, Mattheisen, Manuel, Moran, Jennifer, Pallesen, Jonatan, Poulsen, Jesper Buchhave, Ripke, Stephan, Gallagher, Louise, Gill, Michael, Zwick, Michael E., State, Matthew W., Daly, Mark J., Buxbaum, Joseph D.
Published in Cell (06.02.2020)
Published in Cell (06.02.2020)
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Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
Fu, Jack M., Satterstrom, F. Kyle, Peng, Minshi, Brand, Harrison, Collins, Ryan L., Dong, Shan, Wamsley, Brie, Klei, Lambertus, Wang, Lily, Hao, Stephanie P., Stevens, Christine R., Cusick, Caroline, Babadi, Mehrtash, Banks, Eric, Collins, Brett, Dodge, Sheila, Gabriel, Stacey B., Gauthier, Laura, Lee, Samuel K., Liang, Lindsay, Ljungdahl, Alicia, Mahjani, Behrang, Sloofman, Laura, Smirnov, Andrey N., Barbosa, Mafalda, Betancur, Catalina, Brusco, Alfredo, Chung, Brian H. Y., Cook, Edwin H., Cuccaro, Michael L., Domenici, Enrico, Ferrero, Giovanni Battista, Gargus, J. Jay, Herman, Gail E., Hertz-Picciotto, Irva, Maciel, Patricia, Manoach, Dara S., Passos-Bueno, Maria Rita, Persico, Antonio M., Renieri, Alessandra, Sutcliffe, James S., Tassone, Flora, Trabetti, Elisabetta, Campos, Gabriele, Cardaropoli, Simona, Carli, Diana, Chan, Marcus C. Y., Fallerini, Chiara, Giorgio, Elisa, Girardi, Ana Cristina, Hansen-Kiss, Emily, Lee, So Lun, Lintas, Carla, Ludena, Yunin, Nguyen, Rachel, Pavinato, Lisa, Pericak-Vance, Margaret, Pessah, Isaac N., Schmidt, Rebecca J., Smith, Moyra, Costa, Claudia I. S., Trajkova, Slavica, Wang, Jaqueline Y. T., Yu, Mullin H. C., Cutler, David J., De Rubeis, Silvia, Buxbaum, Joseph D., Daly, Mark J., Devlin, Bernie, Roeder, Kathryn, Sanders, Stephan J., Talkowski, Michael E.
Published in Nature genetics (01.09.2022)
Published in Nature genetics (01.09.2022)
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Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability
Tan, Natalie B, Pagnamenta, Alistair T, Ferla, Matteo P, Gadian, Jonathan, Chung, Brian HY, Chan, Marcus CY, Fung, Jasmine LF, Cook, Edwin, Guter, Stephen, Boschann, Felix, Heinen, Andre, Schallner, Jens, Mignot, Cyril, Keren, Boris, Whalen, Sandra, Sarret, Catherine, Mittag, Dana, Demmer, Laurie, Stapleton, Rachel, Saida, Ken, Matsumoto, Naomichi, Miyake, Noriko, Sheffer, Ruth, Mor-Shaked, Hagar, Barnett, Christopher P, Byrne, Alicia B, Scott, Hamish S, Kraus, Alison, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Iorio, Raffaele, Di Dato, Fabiola, Pais, Lynn S, Yeung, Alison, Tan, Tiong Y, Taylor, Jenny C, Christodoulou, John, White, Susan M
Published in Journal of medical genetics (01.05.2022)
Published in Journal of medical genetics (01.05.2022)
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Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs
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.
Published in The Lancet regional health. Western Pacific (01.08.2020)
Published in The Lancet regional health. Western Pacific (01.08.2020)
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Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk
Kosmicki, Jack A, Breen, Michael S, De Rubeis, Silvia, Joon-Yong, An, Peng, Minshi, Ryan Lewis Collins, Stevens, Christine, Reichert, Jennifer, Mulhern, Maureen, Gerges, Sherif, Xu, Xinyi, Bhaduri, Aparna, Utku, Norman, Schwartz, Grace, Barbosa, Mafalda, Jonas Bybjerg-Grauholm, Carracedo, Angel, Chan, Marcus C Y, Chiocchetti, Andreas, Chung, Brian, Coon, Hilary, Cuccaro, Michael, Bernardo Dalla Bernardina, Domenici, Enrico, Dong, Shan, Ferrero, Giovanni Battista, Gargus, J Jay, González-Peñas, Javier, Guter, Stephen, Hassen-Kiss, Emily, He, Xin, Herman, Gail, Hertz-Picciotto, Irva, Hougaard, David M, Hultman, Christina M, Ionita-Laza, Iuliana, Jacob, Suma, Jamison, Jesslyn, Jugessur, Astanand, Kolevzon, Alexander, Kushima, Itaru, Lee, So Lun, Lehtimäki, Terho, Lim, Elaine T, Lipkin, W Ian, Lopergolo, Diego, Lopes, Fátima, Ludena, Yunin, Maciel, Patricia, Manoach, Dara S, Meiri, Gal, Idan Menashe, Miller, Judith, Eduarda Montenegro M De Souza, Muglia, Pierandrea, Nordentoft, Merete, Ozaki, Norio, Palotie, Aarno, Parellada, Mara, Passos-Bueno, Maria Rita, Persico, Antonio, Pessah, Isaac, Puura, Kaija, Renieri, Alessandra, Riberi, Evelise, Sandin, Sven, Santangelo, Susan L, Schellenberg, Gerry, Scherer, Stephen, Schmitt, Lauren, Isabela Maya W Silva, Singh, Tarjinder, Siper, Paige, Smith, Moyra, Soares, Gabriela, Susser, Ezra, Szatmari, Peter, Tang, Lara, Tassone, Flora, Teufel, Karoline, Maria Del Pilar Trelles, Walsh, Christopher, Weiss, Lauren, Werge, Thomas, Yu, Timothy, Mullin Hc Yu, Zachi, Elaine, Cook, Edwin H, Gallagher, Louise, Gill, Michael, Lehner, Thomas, Senthil, Geetha, Thurm, Audrey, State, Matthew W, Cicek, A Ercument, Talkowski, Michael E, Devlin, Bernie, Sanders, Stephan J, Buxbaum, Joseph D, Daly, Mark J
Published in bioRxiv (01.12.2018)
Published in bioRxiv (01.12.2018)
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