Hereditary platelet disorders associated with germ line variants in RUNX1, ETV6, and ANKRD26

por Homan, Claire C., Scott, Hamish S., Brown, Anna L.
Publicado 2023

A case of Aromatase deficiency due to a novel CYP19A1 mutation

por Gagliardi, Lucia, Scott, Hamish S, Feng, Jinghua, Torpy, David J
Publicado 2014

Modulation of Aire regulates the expression of tissue-restricted antigens

por Kont, Vivian, Laan, Martti, Kisand, Kai, Merits, Andres, Scott, Hamish S., Peterson, Pärt
Publicado 2008

Post-Aire Maturation of Thymic Medullary Epithelial Cells Involves Selective Expression of Keratinocyte-Specific Autoantigens

por Wang, Xiaoping, Laan, Martti, Bichele, Rudolf, Kisand, Kai, Scott, Hamish S., Peterson, Pärt
Publicado 2012

Transcription factor genetics and biology in predisposition to bone marrow failure and hematological malignancy

por Zerella, Jiarna R., Homan, Claire C., Arts, Peer, Brown, Anna L., Scott, Hamish S., Hahn, Christopher N.
Publicado 2023

The role of MKK4 in T‐cell development and immunity to viral infections

por Preston, Simon P, Doerflinger, Marcel, Scott, Hamish W, Allison, Cody C, Horton, Miles, Cooney, James, Pellegrini, Marc
Publicado 2020

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

por De Sousa, Sunita M. C., Kassahn, Karin S., McIntyre, Liam C., Chong, Chan-Eng, Scott, Hamish S., Torpy, David J.
Publicado 2016

A putative role for the aryl hydrocarbon receptor (AHR) gene in a patient with cyclical Cushing’s disease

por De Sousa, Sunita M. C., Manavis, Jim, Feng, Jinghua, Wang, Paul, Schreiber, Andreas W., Scott, Hamish S., Torpy, David J.
Publicado 2020

A comparative analysis of algorithms for somatic SNV detection in cancer

por Roberts, Nicola D., Kortschak, R. Daniel, Parker, Wendy T., Schreiber, Andreas W., Branford, Susan, Scott, Hamish S., Glonek, Garique, Adelson, David L.
Publicado 2013

Targeted pharmacotherapy after somatic cancer mutation screening

por Polasek, Thomas M., Ambler, Karen, Scott, Hamish S., Sorich, Michael J., Kaub, Peter A., Rowland, Andrew, Wiese, Michael D., Kichenadasse, Ganessan
Publicado 2016

A Conserved HIV-1-Derived Peptide Presented by HLA-E Renders Infected T-cells Highly Susceptible to Attack by NKG2A/CD94-Bearing Natural Killer Cells

por Davis, Zachary B., Cogswell, Andrew, Scott, Hamish, Mertsching, Amanda, Boucau, Julie, Wambua, Daniel, Le Gall, Sylvie, Planelles, Vicente, Campbell, Kerry S., Barker, Edward
Publicado 2016

MON-LB48 The Genomic Landscape of Sporadic Thyrotrophinomas

por shen, Angeline, Wang, Paul, De Sousa, Sunita M C, Torpy, David J, Scott, Hamish, King, James, Colman, Peter Grahame, Yates, Christopher James
Publicado 2020

MicroSAGE is highly representative and reproducible but reveals major differences in gene expression among samples obtained from similar tissues

por Blackshaw, Seth, Kuo, Winston P, Park, Peter J, Tsujikawa, Motokazu, Gunnersen, Jenny M, Scott, Hamish S, Boon, Wee-Ming, Tan, Seong-Seng, Cepko, Constance L
Publicado 2003

Estimating the proportion of microarray probes expressed in an RNA sample

por Shi, Wei, de Graaf, Carolyn A., Kinkel, Sarah A., Achtman, Ariel H., Baldwin, Tracey, Schofield, Louis, Scott, Hamish S., Hilton, Douglas J., Smyth, Gordon K.
Publicado 2010

Gene Dosage–limiting Role of Aire in Thymic Expression, Clonal Deletion, and Organ-specific Autoimmunity

por Liston, Adrian, Gray, Daniel H.D., Lesage, Sylvie, Fletcher, Anne L., Wilson, Judith, Webster, Kylie E., Scott, Hamish S., Boyd, Richard L., Peltonen, Leena, Goodnow, Christopher C.
Publicado 2004

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

por Tan, Kai-Leng, Ling, King-Hwa, Hewitt, Chelsee A., Cheah, Pike-See, Simpson, Ken, Gordon, Lavinia, Pritchard, Melanie A., Smyth, Gordon K., Thomas, Tim, Scott, Hamish S.
Publicado 2014

Investigating the Potential Role of Genetic and Epigenetic Variation of DNA Methyltransferase Genes in Hyperplastic Polyposis Syndrome

por Drini, Musa, Wong, Nicholas C., Scott, Hamish S., Craig, Jeffrey M., Dobrovic, Alexander, Hewitt, Chelsee A., Dow, Christofer, Young, Joanne P., Jenkins, Mark A., Saffery, Richard, Macrae, Finlay A.
Publicado 2011

Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss

por Venugopal, Parvathy, Gagliardi, Lucia, Forsyth, Cecily, Feng, Jinghua, Phillips, Kerry, Babic, Milena, Poplawski, Nicola K., Rienhoff, Hugh Young, Schreiber, Andreas W., Hahn, Christopher N., Brown, Anna L., Scott, Hamish S.
Publicado 2020

Gene Network Disruptions and Neurogenesis Defects in the Adult Ts1Cje Mouse Model of Down Syndrome

por Hewitt, Chelsee A., Ling, King-Hwa, Merson, Tobias D., Simpson, Ken M., Ritchie, Matthew E., King, Sarah L., Pritchard, Melanie A., Smyth, Gordon K., Thomas, Tim, Scott, Hamish S., Voss, Anne K.
Publicado 2010

ARMC5 is part of an RPB1-specific ubiquitin ligase implicated in adrenal hyperplasia

por Lao, Linjiang, Bourdeau, Isabelle, Gagliardi, Lucia, He, Xiao, Shi, Wei, Hao, Bingbing, Tan, Minjia, Hu, Yan, Peng, Junzheng, Coulombe, Benoit, Torpy, David J, Scott, Hamish S, Lacroix, Andre, Luo, Hongyu, Wu, Jiangping
Publicado 2022