Search Results - "Chan, Marcus C.Y."

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism by 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.

“…Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely observed in the general population. We explored the genes disrupted by…”
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Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability by 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

“…Binding proteins (G-proteins) mediate signalling pathways involved in diverse cellular functions and comprise Gα and Gβγ units. Human diseases have been…”
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Client Service Receipt Inventory as a standardised tool for measurement of socio-economic costs in the rare genetic disease population (CSRI-Ra) by 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.

“…The measurement of costs is fundamental in healthcare decision-making, but it is often challenging. In particular, standardised methods have not been developed…”
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A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis by Fung, Jasmine L. F., Yu, Mullin H. C., Huang, Shushu, Chung, Claudia C. Y., Chan, Marcus C. Y., Pajusalu, Sander, Mak, Christopher C. Y., Hui, Vivian C. C., Tsang, Mandy H. Y., Yeung, Kit San, Lek, Monkol, Chung, Brian H. Y.

“…Exome sequencing (ES) has become one of the important diagnostic tools in clinical genetics with a reported diagnostic rate of 25–58%. Many studies have…”
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Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs by 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.

“…Rapid whole-exome sequencing (rWES) offers the potential for early diagnosis-predicated precision medicine. Previous evidence focused predominantly on infants…”
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Socio-economic costs of rare diseases and the risk of financial hardship: a cross-sectional study by 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.

“…To achieve universal healthcare coverage (UHC), the rare disease (RD) population must also receive quality healthcare without financial hardship. This study…”
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