Hamish S. Scott - Dissemin

Papers authored by Hamish S. Scott

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2015 Zhiqiang Hu, Hamish S. Scott

, Guangrong Qin, Guangyong Zheng, Xixia Chu, Lu Xie, David L. Adelson, Bergithe E. Oftedal, Parvathy Venugopal, Milena Babic, Christopher N. Hahn, Bing Zhang, Xiaojing Wang, Nan Li, Chaochun Wei

Revealing Missing Human Protein Isoforms Based on Ab Initio Prediction, RNA-seq and Proteomics

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Lucia Gagliardi, Nathalie Nataren, Jinghua Feng, Andreas W. Schreiber

, Christopher N. Hahn, Louise S. Conwell, David Coman, Hamish S. Scott

Allan-Herndon-Dudley syndrome with unusual profound sensorineural hearing loss

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C. N. Hahn, D. M. Ross, J. Feng, A. Beligaswatte, D. K. Hiwase, W. T. Parker, M. Ho, M. Zawitkowski, K. L. Ambler, G. D. Cheetham, Y. K. Lee, M. Babic, C. M. Butcher, G. A. Engler, A. L. Brown and 5 other authors

A tale of two siblings: two cases of AML arising from a single pre-leukemic DNMT3A mutant clone

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C. N. Hahn

, P. J. Brautigan, C.-E. Chong, A. Janssan, P. Venugopal, Y. Lee, A. E. Tims, M. S. Horwitz, M. Klingler-Hoffmann, H. S. Scott

Characterisation of a compound in-cis GATA2 germline mutation in a pedigree presenting with myelodysplastic syndrome/acute myeloid leukemia with concurrent thrombocytopenia

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Dylan Mordaunt

, Bergithe E. Oftedal, Alisha McLauchlan, Danika Coates, Wendy Waters, Hamish Scott

, Christopher Barnett

8q13.1-q13.2 Deletion Associated With Inferior Cerebellar Vermian Hypoplasia and Digital Anomalies: A New Syndrome?

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Matthias Hardtke-Wolenski, Richard Taubert, Fatih Noyan, Maren Sievers, Janine Dywicki, Jerome Schlue, Christine S. Falk

, Brita Ardesjö Lundgren, Hamish S. Scott

, Andreas Pich, Mark S. Anderson, Michael P. Manns, Elmar Jaeckel

Autoimmune hepatitis in a murine autoimmune polyendocrine syndrome type 1 model is directed against multiple autoantigens

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Jan Kazenwadel, Kelly L. Betterman, Chan-Eng Chong, Philippa H. Stokes, Genevieve A. Seeker, Young K. Lee, Genevieve A. Secker

, Yan Agalarov, Cansaran Saygili Demir, Sebastien P. Tabruyn, David M. Lawrence, Naoyuld Miura, Drew L. Sutton, Marjo Salminen, Tatiana V. Petrova and 5 other authors

GATA2 is required for lymphatic vessel valve development and maintenance

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2014 Christopher N. Hahn, Parvathy Venugopal, Hamish S. Scott

, Devendra K. Hiwase

Splice factor mutations and alternative splicing as drivers of hematopoietic malignancy

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Julia I. Ellyard, Rebekka Jerjen, Jaime L. Martin, Adrian Y. S. Lee

, Matthew A. Field, Simon H. Jiang, Jean Cappello, Svenja K. Naumann, T. Daniel Andrews, Hamish S. Scott

, Marco G. Casarotto, Christopher C. Goodnow, Jeffrey Chaitow, Virginia Pascual, Paul Hertzog and 3 other authors

Brief Report: Identification of a Pathogenic Variant in TREX1 in Early-Onset Cerebral Systemic Lupus Erythematosus by Whole-Exome Sequencing

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Lucia Gagliardi, Andreas W. Schreiber

, Christopher N. Hahn, Jinghua Feng, Treena Cranston, Hannah Boon, Cheri Hotu, Bergithe E. Oftedal, Richard Cutfield, David L. Adelson, Wilton J. Braund, Richard D. Gordon, D. Aled Rees

, Ashley B. Grossman, David J. Torpy and 1 other authors

ARMC5Mutations Are Common in Familial Bilateral Macronodular Adrenal Hyperplasia

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Karin S. Kassahn, Hamish S. Scott

, Melody C. Caramins

Integrating Massively Parallel Sequencing into Diagnostic Workflows and Managing the Annotation and Clinical Interpretation Challenge

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Lucia Gagliardi, Hamish S. Scott

, Jinghua Feng, David J. Torpy

A case of Aromatase deficiency due to a novel CYP19A1 mutation

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Wendy T. Parker, Stuart R. Phillis, David T. O. Yeung, Timothy P. Hughes, Hamish S. Scott

, Susan Branford

Many BCR-ABL1 compound mutations reported in chronic myeloid leukemia patients may actually be artifacts due to PCR-mediated recombination

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King-Hwa Ling, Chelsee Ann Hewitt, Kai-Leng Tan, Pike-See Cheah

, Sharmili Vidyadaran, Mei-I. Lai, Han-Chung Lee, Ken Simpson, Lavinia Hyde, Melanie A. Pritchard, Gordon K. Smyth, Tim Thomas

, Hamish S. Scott

Functional transcriptome analysis of the postnatal brain of the Ts1Cje mouse model for Down syndrome reveals global disruption of interferon-related molecular networks

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Kai-Leng Tan, King-Hwa Ling, Chelsee A. Hewitt, Pike-See Cheah

, Ken Simpson, Lavinia Gordon, Lavinia Hyde, Melanie A. Pritchard, Gordon K. Smyth

, Tim Thomas

, Hamish S. Scott

Transcriptional profiling of the postnatal brain of the Ts1Cje mouse model of Down syndrome

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2013 Hamish S. Scott

When to WES in the Pediatric Disease Clinic? Now!

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Nicola D. Roberts, R. Daniel Kortschak, R. Daniel Kortschak, Wendy T. Parker, Andreas W. Schreiber

, Susan Branford, Hamish S. Scott

, Garique Glonek, David L. Adelson

A comparative analysis of algorithms for somatic SNV detection in cancer

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W. T. Parker, A. L. Yeoman, B. A. Jamison, D. T. Yeung, H. S. Scott

, T. P. Hughes, S. Branford

BCR-ABL1 kinase domain mutations may persist at very low levels for many years and lead to subsequent TKI resistance

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Diana S. Y. Tan, Poh Y. Gan, K. M. O'Sullivan, Kim M. O’Sullivan, Maree V. Hammett, Shaun A. Summers, Joshua D. Ooi, Brita A. Lundgren, Richard L. Boyd, Hamish S. Scott

, A. Richard Kitching, Ann P. Chidgey, Stephen R. Holdsworth

Thymic Deletion and Regulatory T Cells Prevent Antimyeloperoxidase GN

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2012 Laurence Molina, Lydie Fasquelle, Régis Nouvian, Nicolas Salvetat, Hamish S. Scott

, Michel Guipponi, Franck Molina, Jean-Luc Puel, Benjamin Delprat

Tmprss3 loss of function impairs cochlear inner hair cell Kcnma1 channel membrane expression

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Papers authored by Hamish S. Scott