Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology
Wilson, Gabrielle R., Sim, Joe C.H., McLean, Catriona, Giannandrea, Maila, Galea, Charles A., Riseley, Jessica R., Stephenson, Sarah E.M., Fitzpatrick, Elizabeth, Haas, Stefan A., Pope, Kate, Hogan, Kirk J., Gregg, Ronald G., Bromhead, Catherine J., Wargowski, David S., Lawrence, Christopher H., James, Paul A., Churchyard, Andrew, Gao, Yujing, Phelan, Dean G., Gillies, Greta, Salce, Nicholas, Stanford, Lynn, Marsh, Ashley P.L., Mignogna, Maria L., Hayflick, Susan J., Leventer, Richard J., Delatycki, Martin B., Mellick, George D., Kalscheuer, Vera M., D’Adamo, Patrizia, Bahlo, Melanie, Amor, David J., Lockhart, Paul J.
Published in American journal of human genetics (04.12.2014)
Published in American journal of human genetics (04.12.2014)
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Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features
Lessel, Davor, Vaz, Bruno, Halder, Swagata, Lockhart, Paul J, Marinovic-Terzic, Ivana, Lopez-Mosqueda, Jaime, Philipp, Melanie, Sim, Joe C H, Smith, Katherine R, Oehler, Judith, Cabrera, Elisa, Freire, Raimundo, Pope, Kate, Nahid, Amsha, Norris, Fiona, Leventer, Richard J, Delatycki, Martin B, Barbi, Gotthold, von Ameln, Simon, Högel, Josef, Degoricija, Marina, Fertig, Regina, Burkhalter, Martin D, Hofmann, Kay, Thiele, Holger, Altmüller, Janine, Nürnberg, Gudrun, Nürnberg, Peter, Bahlo, Melanie, Martin, George M, Aalfs, Cora M, Oshima, Junko, Terzic, Janos, Amor, David J, Dikic, Ivan, Ramadan, Kristijan, Kubisch, Christian
Published in Nature genetics (01.11.2014)
Published in Nature genetics (01.11.2014)
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Journal Article
Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3
Sim, Joe C., Scerri, Thomas, Fanjul-Fernández, Miriam, Riseley, Jessica R., Gillies, Greta, Pope, Kate, van Roozendaal, Hanna, Heng, Julian I., Mandelstam, Simone A., McGillivray, George, MacGregor, Duncan, Kannan, Lakshminarayanan, Maixner, Wirginia, Harvey, A. Simon, Amor, David J., Delatycki, Martin B., Crino, Peter B., Bahlo, Melanie, Lockhart, Paul J., Leventer, Richard J.
Published in Annals of neurology (01.01.2016)
Published in Annals of neurology (01.01.2016)
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Journal Article
ARID1B-mediated disorders: Mutations and possible mechanisms
Sim, Joe C. H., White, Susan M, Lockhart, Paul J.
Published in Intractable & Rare Diseases Research (01.02.2015)
Published in Intractable & Rare Diseases Research (01.02.2015)
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Journal Article
Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency
Sim, Joe C H, White, Susan M, Fitzpatrick, Elizabeth, Wilson, Gabrielle R, Gillies, Greta, Pope, Kate, Mountford, Hayley S, Torring, Pernille M, McKee, Shane, Vulto-van Silfhout, Anneke T, Jhangiani, Shalini N, Muzny, Donna M, Leventer, Richard J, Delatycki, Martin B, Amor, David J, Lockhart, Paul J
Published in Orphanet journal of rare diseases (27.03.2014)
Published in Orphanet journal of rare diseases (27.03.2014)
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Journal Article
Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss
Marsh, Ashley P L, Lukic, Vesna, Pope, Kate, Bromhead, Catherine, Tankard, Rick, Ryan, Monique M, Yiu, Eppie M, Sim, Joe C H, Delatycki, Martin B, Amor, David J, McGillivray, George, Sherr, Elliott H, Bahlo, Melanie, Leventer, Richard J, Lockhart, Paul J
Published in Neurology. Genetics (01.08.2015)
Published in Neurology. Genetics (01.08.2015)
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Journal Article
Cost-effectiveness analysis of hospital infection control response to an epidemic respiratory virus threat
Dan, Yock Young, Tambyah, Paul A, Sim, Joe, Lim, Jeremy, Hsu, Li Yang, Chow, Wai Leng, Fisher, Dale A, Wong, Yue Sie, Ho, Khek Yu
Published in Emerging infectious diseases (01.12.2009)
Published in Emerging infectious diseases (01.12.2009)
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Journal Article
Setting up a regional health system database for seamless population health management in Singapore
Gunapal, Pradeep Paul George, Kannapiran, Palvannan, Teow, Kiok Liang, Zhu, Zhecheng, Xiaobin You, Alex, Saxena, Nakul, Singh, Vinay, Tham, Linus, Choo, Philip Wee Jin, Chong, Phui-Nah, Sim, Joe Heng Joo, Eu Li Wong, John, Ong, Benjamin Kian Chung, Soh, Eugene Fidelis, Foo, Hee Jug, Heng, Bee Hoon
Published in Proceedings of Singapore healthcare (01.03.2016)
Published in Proceedings of Singapore healthcare (01.03.2016)
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Journal Article
Models and Insights for Hospital Inpatient Operations: Time-Dependent ED Boarding Time
Shi, Pengyi, Chou, Mabel C., Dai, J. G., Ding, Ding, Sim, Joe
Published in Management science (01.01.2016)
Published in Management science (01.01.2016)
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Journal Article
The successful, rapid transition to a new model of graduate medical education in Singapore
Huggan, Paul J, Samarasekara, Dujeepa D, Archuleta, Sophia, Khoo, See Meng, Sim, Joe Heng Joo, Sin, Clara Siew Ping, Ooi, Shirley Beng Suat
Published in Academic medicine (01.09.2012)
Published in Academic medicine (01.09.2012)
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Journal Article
Singapore's regional health systems—a data‐driven perspective on frequent admitters and cross utilization of healthcare services in three systems
Saxena, Nakul, You, Alex Xiaobin, Zhu, Zhecheng, Sun, Yan, George, Pradeep Paul, Teow, Kiok Liang, Chong, Phui‐Nah, Sim, Joe, Wong, John Eu Li, Ong, Benjamin, Foo, Hee Jug, Soh, Eugene Fidelis, Tham, Linus, Heng, Bee Hoon, Choo, Philip
Published in The International journal of health planning and management (01.01.2017)
Published in The International journal of health planning and management (01.01.2017)
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Journal Article
Intelligent Analysis of Acute Bed Overflow in a Tertiary Hospital in Singapore
Teow, Kiok Liang, El-Darzi, Elia, Foo, Cynthia, Jin, Xin, Sim, Joe
Published in Journal of medical systems (01.06.2012)
Published in Journal of medical systems (01.06.2012)
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Journal Article
Singapore's regional health systems-a data-driven perspective on frequent admitters and cross utilization of healthcare services in three systems: Population Health Management in Singapore
Saxena, Nakul, You, Alex Xiaobin, Zhu, Zhecheng, Sun, Yan, George, Pradeep Paul, Teow, Kiok Liang, Chong, Phui-Nah, Sim, Joe, Wong, John Eu Li, Ong, Benjamin, Foo, Hee Jug, Soh, Eugene Fidelis, Tham, Linus, Heng, Bee Hoon, Choo, Philip
Published in The International journal of health planning and management (01.01.2017)
Published in The International journal of health planning and management (01.01.2017)
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Journal Article
Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with [alpha]-Synuclein Pathology
Wilson, Gabrielle R, Sim, Joe CH, McLean, Catriona, Giannandrea, Maila, Galea, Charles A, Riseley, Jessica R, Stephenson, Sarah EM, Fitzpatrick, Elizabeth, Haas, Stefan A, Pope, Kate, Hogan, Kirk J, Gregg, Ronald G, Bromhead, Catherine J, Wargowski, David S, Lawrence, Christopher H, James, Paul A, Churchyard, Andrew, Gao, Yujing, Phelan, Dean G, Gillies, Greta, Salce, Nicholas, Stanford, Lynn, Marsh, Ashley PL, Mignogna, Maria L, Hayflick, Susan J, Leventer, Richard J, Delatycki, Martin B, Mellick, George D, Kalscheuer, Vera M, D'Adamo, Patrizia, Bahlo, Melanie, Amor, David J, Lockhart, Paul J
Published in American journal of human genetics (04.12.2014)
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Published in American journal of human genetics (04.12.2014)
Journal Article