GATA2 is required for lymphatic vessel valve development and maintenance
Kazenwadel, Jan, Betterman, Kelly L, Chong, Chan-Eng, Stokes, Philippa H, Lee, Young K, Secker, Genevieve A, Agalarov, Yan, Demir, Cansaran Saygili, Lawrence, David M, Sutton, Drew L, Tabruyn, Sebastien P, Miura, Naoyuki, Salminen, Marjo, Petrova, Tatiana V, Matthews, Jacqueline M, Hahn, Christopher N, Scott, Hamish S, Harvey, Natasha L
Published in The Journal of clinical investigation (03.08.2015)
Published in The Journal of clinical investigation (03.08.2015)
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Epidemiological and ES cell‐based functional evaluation of BRCA2 variants identified in families with breast cancer
Sullivan, Teresa, Thirthagiri, Eswary, Chong, Chan‐Eng, Stauffer, Stacey, Reid, Susan, Southon, Eileen, Hassan, Tiara, Ravichandran, Aravind, Wijaya, Eldarina, Lim, Joanna, Taib, Nur Aishah Mohd, Fadzli, Farhana, Yip, Cheng Har, Hartman, Mikael, Li, Jingmei, Dam, Rob M., North, Susan L., Das, Ranabir, Easton, Douglas F., Biswas, Kajal, Teo, Soo‐Hwang, Sharan, Shyam K.
Published in Human mutation (01.02.2021)
Published in Human mutation (01.02.2021)
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Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing
Barnett, Christopher P., Nataren, Nathalie J., Klingler-Hoffmann, Manuela, Schwarz, Quenten, Chong, Chan-Eng, Lee, Young K., Bruno, Damien L., Lipsett, Jill, McPhee, Andrew J., Schreiber, Andreas W., Feng, Jinghua, Hahn, Christopher N., Scott, Hamish S.
Published in Human mutation (01.09.2016)
Published in Human mutation (01.09.2016)
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Case report of whole genome sequencing in the XY female: identification of a novel SRY mutation and revision of a misdiagnosis of androgen insensitivity syndrome
De Sousa, Sunita M C, Kassahn, Karin S, McIntyre, Liam C, Chong, Chan-Eng, Scott, Hamish S, Torpy, David J
Published in BMC endocrine disorders (08.11.2016)
Published in BMC endocrine disorders (08.11.2016)
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Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies
Lewinsohn, Maya, Brown, Anna L., Weinel, Luke M., Phung, Connie, Rafidi, George, Lee, Ming K., Schreiber, Andreas W., Feng, Jinghua, Babic, Milena, Chong, Chan-Eng, Lee, Young, Yong, Agnes, Suthers, Graeme K., Poplawski, Nicola, Altree, Meryl, Phillips, Kerry, Jaensch, Louise, Fine, Miriam, D'Andrea, Richard J., Lewis, Ian D., Medeiros, Bruno C., Pollyea, Daniel A., King, Mary-Claire, Walsh, Tom, Keel, Siobán, Shimamura, Akiko, Godley, Lucy A., Hahn, Christopher N., Churpek, Jane E., Scott, Hamish S.
Published in Blood (25.02.2016)
Published in Blood (25.02.2016)
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Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia
Scott, Hamish S, Hahn, Christopher N, Chong, Chan-Eng, Carmichael, Catherine L, Wilkins, Ella J, Brautigan, Peter J, Li, Xiao-Chun, Babic, Milena, Lin, Ming, Carmagnac, Amandine, Lee, Young K, Kok, Chung H, Gagliardi, Lucia, Friend, Kathryn L, Ekert, Paul G, Butcher, Carolyn M, Brown, Anna L, Lewis, Ian D, To, L Bik, Timms, Andrew E, Storek, Jan, Moore, Sarah, Altree, Meryl, Escher, Robert, Bardy, Peter G, Suthers, Graeme K, D'Andrea, Richard J, Horwitz, Marshall S
Published in Nature genetics (01.10.2011)
Published in Nature genetics (01.10.2011)
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Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature
Kazenwadel, Jan, Secker, Genevieve A., Liu, Yajuan J., Rosenfeld, Jill A., Wildin, Robert S., Cuellar-Rodriguez, Jennifer, Hsu, Amy P., Dyack, Sarah, Fernandez, Conrad V., Chong, Chan-Eng, Babic, Milena, Bardy, Peter G., Shimamura, Akiko, Zhang, Michael Y., Walsh, Tom, Holland, Steven M., Hickstein, Dennis D., Horwitz, Marshall S., Hahn, Christopher N., Scott, Hamish S., Harvey, Natasha L.
Published in Blood (02.02.2012)
Published in Blood (02.02.2012)
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Characterisation of protein-truncating and missense variants in PALB2 in 15 768 women from Malaysia and Singapore
Ng, Pei Sze, Boonen, Rick ACM, Wijaya, Eldarina, Chong, Chan Eng, Sharma, Milan, Knaup, Sabine, Mariapun, Shivaani, Ho, Weang Kee, Lim, Joanna, Yoon, Sook-Yee, Mohd Taib, Nur Aishah, See, Mee Hoong, Li, Jingmei, Lim, Swee Ho, Tan, Ern Yu, Tan, Benita Kiat-Tee, Tan, Su-Ming, Tan, Veronique Kiat-Mien, van Dam, Rob Martinus, Rahmat, Kartini, Yip, Cheng Har, Carvalho, Sara, Luccarini, Craig, Baynes, Caroline, Dunning, Alison M, Antoniou, Antonis, van Attikum, Haico, Easton, Douglas F, Hartman, Mikael, Teo, Soo Hwang
Published in Journal of medical genetics (01.05.2022)
Published in Journal of medical genetics (01.05.2022)
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Journal Article
Cover Image, Volume 37, Issue 9
Barnett, Christopher P., Nataren, Nathalie J., Klingler-Hoffmann, Manuela, Schwarz, Quenten, Chong, Chan-Eng, Lee, Young K., Bruno, Damien L., Lipsett, Jill, McPhee, Andrew J., Schreiber, Andreas W., Feng, Jinghua, Hahn, Christopher N., Scott, Hamish S.
Published in Human mutation (01.09.2016)
Published in Human mutation (01.09.2016)
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Novel MDM2 splice variants identified from oral squamous cell carcinoma
Sam, Kin Kit, Gan, Chai Phei, Yee, Pei San, Chong, Chan Eng, Lim, Kue Peng, Karen-Ng, Lee Peng, Chang, Wei Sern, Nathan, Sheila, Rahman, Zainal Ariff Abdul, Ismail, Siti Mazlipah, Cheong, Sok Ching
Published in Oral oncology (01.11.2012)
Published in Oral oncology (01.11.2012)
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Burkholderia pseudomallei animal and human isolates from Malaysia exhibit different phenotypic characteristics
Lee, Song-Hua, Chong, Chan-Eng, Lim, Boon-San, Chai, San-Jiun, Sam, Kin-Kit, Mohamed, Rahmah, Nathan, Sheila
Published in Diagnostic microbiology and infectious disease (01.07.2007)
Published in Diagnostic microbiology and infectious disease (01.07.2007)
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RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML
Brown, Anna L., Arts, Peer, Carmichael, Catherine L., Babic, Milena, Dobbins, Julia, Chong, Chan-Eng, Schreiber, Andreas W., Feng, Jinghua, Phillips, Kerry, Wang, Paul P.S., Ha, Thuong, Homan, Claire C., King-Smith, Sarah L., Rawlings, Lesley, Vakulin, Cassandra, Dubowsky, Andrew, Burdett, Jessica, Moore, Sarah, McKavanagh, Grace, Henry, Denae, Wells, Amanda, Mercorella, Belinda, Nicola, Mario, Suttle, Jeffrey, Wilkins, Ella, Li, Xiao-Chun, Michaud, Joelle, Brautigan, Peter, Cannon, Ping, Altree, Meryl, Jaensch, Louise, Fine, Miriam, Butcher, Carolyn, D'Andrea, Richard J., Lewis, Ian D., Hiwase, Devendra K., Papaemmanuil, Elli, Horwitz, Marshall S., Natsoulis, Georges, Rienhoff, Hugh Y., Patton, Nigel, Mapp, Sally, Susman, Rachel, Morgan, Susan, Cooney, Julian, Currie, Mark, Popat, Uday, Bochtler, Tilmann, Izraeli, Shai, Bradstock, Kenneth, Godley, Lucy A., Krämer, Alwin, Fröhling, Stefan, Wei, Andrew H., Forsyth, Cecily, Mar Fan, Helen, Poplawski, Nicola K., Hahn, Christopher N., Scott, Hamish S.
Published in Blood advances (24.03.2020)
Published in Blood advances (24.03.2020)
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Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing: HUMAN MUTATION
Barnett, Christopher P., Nataren, Nathalie J., Klingler-Hoffmann, Manuela, Schwarz, Quenten, Chong, Chan-Eng, Lee, Young K., Bruno, Damien L., Lipsett, Jill, McPhee, Andrew J., Schreiber, Andreas W., Feng, Jinghua, Hahn, Christopher N., Scott, Hamish S.
Published in Human mutation (01.09.2016)
Published in Human mutation (01.09.2016)
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Over-expression of MAGED4B increases cell migration and growth in oral squamous cell carcinoma and is associated with poor disease outcome
Chong, Chan Eng, Lim, Kue Peng, Gan, Chai Phei, Marsh, Christina A, Zain, Rosnah Binti, Abraham, Mannil Thomas, Prime, Stephen S, Teo, Soo-Hwang, Silvio Gutkind, J, Patel, Vyomesh, Cheong, Sok Ching
Published in Cancer letters (01.08.2012)
Published in Cancer letters (01.08.2012)
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Expanded Phenotypic and Genetic Heterogeneity in the Clinical Spectrum of FPD-AML: Lymphoid Malignancies and Skin Disorders Are Common Features in Carriers of Germline RUNX1 Mutations
Brown, Anna L, Hahn, Christopher N, Carmichael, Catherine, Wilkins, Ella, Babic, Milena, Chong, Chan-Eng, Li, Xiao-Chun, Michaud, Joelle, Cannon, Ping, Poplawski, Nicola, Altree, Meryl, Phillips, Kerry, Jaensch, Louise, Fine, Miriam, Schreiber, Andreas W, Feng, Jinghua, Rawlings, Lesley, Vakulin, Cassandra, Butcher, Carolyn, D'Andrea, Richard, Lewis, Ian D, Patton, Nigel, Forsyth, Cecily, Mapp, Sally, Mar Fan, Helen, Susman, Rachel, Morgan, Sue, Cooney, Julian, Currie, Mark S, Popat, Uday R., Bradstock, Kenneth, Sorrell, April D., Owen, Carolyn J., Horwitz, Marshall S, Hiwase, Devendra, Krämer, Alwin, Fröhling, Stefan, Godley, Lucy A, Churpek, Jane E, Scott, Hamish S
Published in Blood (02.12.2016)
Published in Blood (02.12.2016)
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Journal Article
GATA2 is required for lymphatic vessel valve development and maintenance
Kazenwadel, Jan, Betterman, Kelly L, Chong, Chan-Eng, Stokes, Philippa H, Lee, Young K, Secker, Genevieve A, Agalarov, Yan, Demir, Cansaran Saygili, Lawrence, David M, Sutton, Drew L, Tabruyn, Sebastien P, Miura, Naoyuki, Salminen, Marjo, Petrova, Tatiana V, Matthews, Jacqueline M, Hahn, Christopher N, Scott, Hamish S, Harvey, Natasha L
Published in The Journal of clinical investigation (01.08.2015)
Published in The Journal of clinical investigation (01.08.2015)
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Journal Article
Abstract 1573: MAGED4B drives oral carcinogenesis and is a promising peptide vaccine target for the treatment of oral squamous cell carcinoma
Lim, Kue Peng, Gan, Chai Phei, Chong, Chan Eng, Zain, Rosnah Binti, Abraham, Mannil Thomas, Rahman, Zainal Ariff Abdul, Teo, Soo-Hwang, Gutkind, J Silvio, Patel, Vyomesh, Ponniah, Sathibalan, Cheong, Sok Ching
Published in Cancer research (Chicago, Ill.) (15.04.2012)
Published in Cancer research (Chicago, Ill.) (15.04.2012)
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