Search Results - "Lau, Chiyan"

Nucleophosmin and Nucleolin Regulate K-Ras Plasma Membrane Interactions and MAPK Signal Transduction by Inder, Kerry L., Lau, Chiyan, Loo, Dorothy, Chaudhary, Natasha, Goodall, Andrew, Martin, Sally, Jones, Alun, van der Hoeven, Dharini, Parton, Robert G., Hill, Michelle M., Hancock, John F.

“…The spatial organization of Ras proteins into nanoclusters on the inner leaflet of the plasma membrane is essential for high fidelity signaling through the…”
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Analytical Validation of a 37-Gene Next-Generation Sequencing Panel for Myeloid Malignancies and Review of Initial Findings Incorporating Updated 2022 Diagnostic and Prognostic Guidelines by Leung, Becky, Aung, Hnin, Nandini, Adayapalam, Abdulrasool, Ghusoon, Lau, Chiyan, Seymour, Louise

“…Myeloid neoplasms are clonal disorders that arise via acquisition of genetic mutations leading to excessive proliferation and defective differentiation…”
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Wondering In Genome Wonder World by Abdulrasool, Ghusoon, Patel, Chirag, Lau, Chiyan

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Understanding complex begins with knowing the simple by Roy, Priya Susan, Hui, Lawrence, McKinley, Mark, Nandini, Adapalayam, McManus, Sam, Aung, Hnin, AbdulRasool, Ghusoon, Lau, Chiyan

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Analytical validation of a 37-gene next generation sequencing panel for myeloid malignancies and review of initial findings, including reclassification of Acute Myeloid Leukemias and Myelodysplastic Syndromes using the 2022 WHO/ICC/ELN guidelines by Leung, Becky, Aung, Hnin, Nandini, Adayapalam, Abdulrasool, Ghusoon, Lau, Chiyan, Seymour, Louise

“…Myeloid neoplasms are clonal disorders that arise via acquisition of genetic mutations leading to excessive proliferation and defective differentiation…”
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Genetic testing in alpha-1 antitrypsin deficiency – to sequence or not by Wan, Ken L., Froomes, Paul, Mazurkijevic, Laura J., Knezovich, Tamaryn, Dennis, Kyle, Bartlett, Essra, Chia, Nicole L.N., Williams, Mark G., Taylor, Peter J., Lu, Zhong X., Wijeratne, Nilika, McNeil, Alan, Lau, Chiyan, Kulkarni, Abhijit R., Mina, Kym D.

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A Multi-Disciplinary Team Approach to Genomic Testing for Drug-Resistant Epilepsy Patients—The GENIE Study by Vadlamudi, Lata, Bennett, Carmen Maree, Tom, Melanie, Abdulrasool, Ghusoon, Brion, Kristian, Lundie, Ben, Aung, Hnin, Lau, Chiyan, Rodgers, Jonathan, Riney, Kate, Gordon, Louisa

“…Background. The genomic era has led to enormous progress in clinical care and a multi-disciplinary team (MDT) approach is imperative for integration of…”
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Hemophagocytic Lymphohistiocytosis in Loeys-Dietz Syndrome by Biggin, Andrew, Enriquez, Annabelle, Wong, Melanie, Bennetts, Bruce, Lau, Chiyan, Chan, Cheng Yee, Pinner, Jason, Adelstein, Stephen, Adès, Lesley C.

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The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study by Davidson, Aimee L, Dressel, Uwe, Norris, Sarah, Canson, Daffodil M, Glubb, Dylan M, Fortuno, Cristina, Hollway, Georgina E, Parsons, Michael T, Vidgen, Miranda E, Holmes, Oliver, Koufariotis, Lambros T, Lakis, Vanessa, Leonard, Conrad, Wood, Scott, Xu, Qinying, McCart Reed, Amy E, Pickett, Hilda A, Al-Shinnag, Mohammad K, Austin, Rachel L, Burke, Jo, Cops, Elisa J, Nichols, Cassandra B, Goodwin, Annabel, Harris, Marion T, Higgins, Megan J, Ip, Emilia L, Kiraly-Borri, Catherine, Lau, Chiyan, Mansour, Julia L, Millward, Michael W, Monnik, Melissa J, Pachter, Nicholas S, Ragunathan, Abiramy, Susman, Rachel D, Townshend, Sharron L, Trainer, Alison H, Troth, Simon L, Tucker, Katherine M, Wallis, Mathew J, Walsh, Maie, Williams, Rachel A, Winship, Ingrid M, Newell, Felicity, Tudini, Emma, Pearson, John V, Poplawski, Nicola K, Mar Fan, Helen G, James, Paul A, Spurdle, Amanda B, Waddell, Nicola, Ward, Robyn L

“…Abstract Background Many families and individuals do not meet criteria for a known hereditary cancer syndrome but display unusual clusters of cancers. These…”
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Abnormal laboratory results: BRCA testing for familial breast cancer by Lau, Chiyan, Suthers, Graeme

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BRCA testing for familial breast cancer by Lau, Chiyan, Suthers, Graeme

“…Mutations in the BRCA1 and BRCA2 genes are associated with hereditary breast and ovarian cancer. Genetic testing is available in specialised laboratories, but…”
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Giant axonal neuropathy diagnosed on skin biopsy by Mohammad, Shekeeb S, Lau, Chiyan, Burke, Christopher, McCallum, Naomi, Robertson, Thomas

“…Abstract Evaluation of hereditary axonal neuropathy in childhood is complex. Often, the child has to be subjected to general anaesthesia for a nerve biopsy to…”
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RCPA standards for clinical databases of genetic variants by Bennetts, Bruce, Caramins, Melody, Hsu, Arthur, Lau, Chiyan, Scott Mead, R., Meldrum, Cliff, Suthers, Graeme, Taylor, Graham, Tyrrell, Vanessa

“…It is routine practice to compare sequence variations identified during clinical genetic testing with variants recorded in a wide range of databases and…”
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Is it X-Linked or autosomal recessive chronic granulomatous disease? by Tran, Yang, Lau, Chiyan, Hyland, Valentine, Rowell, John, Hogan, Patrick, Wong, Richard, Peake, Jane, Gillis, David

“…Neutrophil oxidative burst (NOB) activity as assessed by dihydrorhodamine-123 flow cytometric assay, is used in the diagnosis of chronic granulomatous disease…”
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Segmental paternal UPD14 – SNP array saves the day? by Lau, Chiyan, Hyland, Val, Young, David, Burgess, Trent, Oertel, Ralph, Harraway, James

“…A baby in neonatal intensive care with respiratory insufficiency, skeletal dysplasia and dysmorphism was clinically suspected to have paternal uniparental…”
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Hemophagocytic Lymphohistiocytosis in Loeys-Dietz Syndrome by Biggin, Andrew, Enriquez, Annabelle, Wong, Melanie, Bennetts, Bruce, Lau, Chiyan, Chan, Cheng Yee, Pinner, Jason, Adelstein, Stephen, Adès, Lesley C

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