Explanipedia

Two Years of Newborn Screening for Severe Combined Immune Deficiency in Western Australia Open

Lawrence Greed, Richard J. N. Allcock · 2025

Introduction Population-based screening for severe combined immune deficiency (SCID) recently commenced in Western Australia using the newborn bloodspot screening sample to quantify T cell receptor excision circles (TRECs) and kappa-deplet…

Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation Open

Emma Tudini, James Andrews, David Lawrence, Sarah L. King‐Smith, Naomi L. Baker , et al. · 2022

The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission): Design and Implementation Open

Alison D. Archibald, Belinda McClaren, Jade Caruana, Erin Tutty, Emily King , et al. · 2022

Reproductive genetic carrier screening (RGCS) provides people with information about their chance of having children with autosomal recessive or X-linked genetic conditions, enabling informed reproductive decision-making. RGCS is recommend…

Variants of HCMV UL18 Sequenced Directly from Clinical Specimens Associate with Antibody and T-Cell Responses to HCMV Open

Shelley Waters, Silvia Lee, Ibnu Ariyanto, Shay Leary, Kylie Munyard , et al. · 2022

Around 80% of adults worldwide carry human cytomegaloviris (HCMV). The HCMV gene UL18 is a homolog of HLA class I genes and encodes a protein with high affinity for the NK and T-cell cytotoxicity inhibitor LIR-1. UL18 was deep sequenced fr…

Sequencing of the Viral UL111a Gene Directly from Clinical Specimens Reveals Variants of HCMV-Encoded IL-10 That Are Associated with Altered Immune Responses to HCMV Open

Shelley Waters, Silvia Lee, Ibnu Ariyanto, Nina Kresoje, Shay Leary , et al. · 2022

Human cytomegalovirus (HCMV) is a beta-herpesvirus carried by ~80% of adults worldwide. Acute infections are often asymptomatic in healthy individuals but generate diverse syndromes in neonates, renal transplant recipients (RTR), and peopl…

Sequencing Directly from Clinical Specimens Reveals Genetic Variations in HCMV-Encoded Chemokine Receptor US28 That May Influence Antibody Levels and Interactions with Human Chemokines Open

Shelley Waters, Mark Agostino, Silvia Lee, Ibnu Ariyanto, Nina Kresoje , et al. · 2021

Human cytomegalovirus (HCMV) is a common viral pathogen of solid organ transplant recipients, neonates, and HIV-infected individuals. HCMV encodes homologs of several host genes with the potential to influence viral persistence and/or path…

Arthritogenic Alphavirus Vaccines: Serogrouping Versus Cross-Protection in Mouse Models Open

Wilson Nguyen, Eri Nakayama, Kexin Yan, Bing Tang, Thuy T. Le , et al. · 2020

Chikungunya virus (CHIKV), Ross River virus (RRV), o’nyong nyong virus (ONNV), Mayaro virus (MAYV) and Getah virus (GETV) represent arthritogenic alphaviruses belonging to the Semliki Forest virus antigenic complex. Antibodies raised again…

Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience Open

Sarah J. Beecroft, Kyle S. Yau, Richard J. N. Allcock, Kym Mina, Rebecca Gooding , et al. · 2020

Objective To develop, test, and iterate a comprehensive neuromuscular targeted gene panel in a national referral center. Methods We designed two iterations of a comprehensive targeted gene panel for neuromuscular disorders. Version 1 inclu…

Macroinvertebrates and Microbes (Archaea, Bacteria) Offer Complementary Insights into Mine-Pit Lake Ecology Open

Melanie L. Blanchette, Richard J. N. Allcock, J. Escoruela Gonzalez, Nina Kresoje, Mark A. Lund · 2019

The broad objective of this research was to determine the environmental drivers of macroinvertebrate and microbial assemblages in acidic pit lakes. This is important because pit lake ecosystem development is influenced by prevailing enviro…

Identification of a CD8+ T-cell response to a predicted neoantigen in malignant mesothelioma Open

Sophie Sneddon, Craig M. Rive, Shaokang Ma, Ian M. Dick, Richard J. N. Allcock , et al. · 2019

Neoantigens present unique and specific targets for personalized cancer immunotherapy strategies. Given the low mutational burden yet immunotherapy responsiveness of malignant mesothelioma (MM) when compared to other carcinogen-induced mal…

Platelets in myeloproliferative neoplasms have a distinct transcript signature in the presence of marrow fibrosis Open

Belinda B. Guo, Matthew D. Linden, Kathryn A. Fuller, Michael Phillips, Bob Mirzai , et al. · 2019

Summary Marrow fibrosis is a significant complication of myeloproliferative neoplasms (MPN) that affects up to 20% of patients and is associated with a poor prognosis. The pathological processes that lead to fibrotic progression are not we…

MicroRNA Signatures in Malignant Pleural Mesothelioma Effusions Open

Kimberly A. Birnie, Cecilia M. Prêle, Arthur W. Musk, Nicholas de Klerk, Gary Lee , et al. · 2019

Malignant pleural mesothelioma (MPM) is an incurable cancer of the pleura that can be difficult to diagnose. Biomarkers for an easier and/or earlier diagnosis are needed. Approximately 90% of MPM patients develop a pleural effusion (PE). P…

A Pilot Study to Non-Invasively Track PIK3CA Mutation in Head and Neck Cancer Open

Henri Schmidt, Arutha Kulasinghe, Richard J. N. Allcock, Lit Yeen Tan, Elisa Mokany , et al. · 2018

Background: PIK3CA pathways are the most frequently mutated oncogenic pathway in head and neck squamous cell carcinoma (HNSCC), including virally driven HNCs. PIK3CA is involved in the PI3K-PTEN-mTOR signalling pathway. PIK3CA has been imp…

An examination of multiple classes of rare variants in extended families with bipolar disorder Open

Claudio Toma, Alex D. Shaw, Richard J. N. Allcock, Anna Heath, Kerrie D. Pierce , et al. · 2018

Bipolar disorder (BD) is a complex psychiatric condition with high heritability, the genetic architecture of which likely comprises both common variants of small effect and rare variants of higher penetrance, the latter of which are largel…

Malignant cells from pleural fluids in malignant mesothelioma patients reveal novel mutations Open

Sophie Sneddon, Ian M. Dick, Gary Lee, Arthur W. Musk, Ann‐Marie Patch , et al. · 2018

Isolation and characterization of microsatellite primers for the critically endangered shrub Styphelia longissima (Ericaceae) Open

Janet M. Anthony, Richard J. N. Allcock, Mark P. Dobrowolski, Siegfried L. Krauss · 2017

Premise of the study: Microsatellite markers were developed for population genetic analysis in the rare shrub Styphelia longissima (Ericaceae). Methods and Results: We generated ca. 2.5 million sequence reads using a Personal Genome Machin…

Detection of therapeutic targets in carcinomas of unknown primary Open

Britt Clynick, Benjamin F. Dessauvagie, G. Strerrett, Nathan T. Harvey, Shyama Subramaniam , et al. · 2017

Towards a Universal Molecular Microbiological Test Open

Richard J. N. Allcock, Amy V. Jennison, David Warrilow · 2017

The standard paradigm for microbiological testing is dependent on the presentation of a patient to a clinician. Tests are then requested based on differential diagnoses using the patient's symptoms as a guide. The era of high-throughput ge…

Characterization and transferability of microsatellites for the Kangaroo Paw, Anigozanthos manglesii (Haemodoraceae) Open

Bronwyn M. Ayre, Janet M. Anthony, David G. Roberts, Richard J. N. Allcock, Siegfried L. Krauss · 2017

Premise of the study: Microsatellites were developed for the future assessment of population genetic structure, mating system, and dispersal of the perennial kangaroo paw, Anigozanthos manglesii (Haemodoraceae), and related species. Method…

Table of Contents Open

Ismaïl Labgaa, Ashley Stueck, Stephen Ward, Francesca Cianfarani, Giovanna Zambruno , et al. · 2017

Whole exome sequencing of an asbestos-induced wild-type murine model of malignant mesothelioma Open

Sophie Sneddon, Ann‐Marie Patch, Ian M. Dick, Stephen H. Kazakoff, John V. Pearson , et al. · 2017

Megakaryocytes in Myeloproliferative Neoplasms Have Unique Somatic Mutations Open

Belinda B. Guo, Richard J. N. Allcock, Bob Mirzai, Jacques A. J. Malherbe, Fizzah Choudry , et al. · 2017

Microbial Functional Capacity Is Preserved Within Engineered Soil Formulations Used In Mine Site Restoration Open

Deepak Kumaresan, Adam T. Cross, Benjamin Moreira‐Grez, Khalil Kariman, Paul Nevill , et al. · 2017

Next generation sequencing of the nidus of early (adenosquamous proliferation rich) radial sclerosing lesions of the breast reveals evidence for a neoplastic precursor lesion Open

Mark James Wilsher, Thomas W. Owens, Richard J. N. Allcock · 2017

We sought to determine if adenosquamous proliferation of early cellular radial sclerosing lesions of the breast harbours hot spot mutations and to help clarify its relationship to low‐grade adenosquamous carcinoma as a potential form of ea…

Archival Isolates Confirm a Single Topotype of West Nile Virus in Australia Open

Bixing Huang, Natalie A. Prow, Andrew F. van den Hurk, Richard J. N. Allcock, Peter R. Moore , et al. · 2016

West Nile virus is globally wide-spread and causes significant disease in humans and animals. The evolution of West Nile virus Kunjin subtype in Australia (WNVKUN) was investigated using archival samples collected over a period of 50 years…

Comparison of faecal microbiota in Blastocystis-positive and Blastocystis-negative irritable bowel syndrome patients Open

R Nagel, Rebecca J. Traub, Richard J. N. Allcock, Marcella Kwan, Helle Bielefeldt‐Ohmann · 2016

Significant differences in the faecal microbiota between diarrhoea-predominant IBS patients and healthy controls were confirmed, but the carriage of Blastocystis did not significantly alter the faecal microbiota. If Blastocystis-positive p…

Genetic Characterization of Archived Bunyaviruses and their Potential for Emergence in Australia Open

Bixing Huang, Cadhla Firth, Daniel Watterson, Richard J. N. Allcock, Agathe M. G. Colmant , et al. · 2016

To better understand the diversity of bunyaviruses and their circulation in Australia, we sequenced 5 viruses (Gan Gan, Trubanaman, Kowanyama, Yacaaba, and Taggert) isolated and serologically identified 4 decades ago as members of the fami…

Newly characterized arboviruses of northern Australia Open

Bixing Huang, Richard J. N. Allcock, David Warrilow · 2016

Arboviruses circulate in the biota of northern Australia, sometimes causing disease in animals and humans. Five different arboviruses, isolated and stored for over 30 years, were re-cultured and sequenced using high-throughput sequencing t…

Isolation and characterization of 13 microsatellites for the rare endemic shrub Tetratheca erubescens (Elaeocarpaceae) Open

Janet M. Anthony, Richard J. N. Allcock, Siegfried L. Krauss · 2016

Premise of the study: Microsatellite markers were developed for the rare Tetratheca erubescens (Elaeocarpaceae) to assess genetic diversity and spatial structuring. Methods and Results: We generated ca. 2.7 million sequence reads using a P…

Polymorphisms in CAMKK2 may predict sensory neuropathy in African HIV patients Open

Hayley Goullée, Antonia Wadley, Catherine L. Cherry, Richard J. N. Allcock, Michael A. Black , et al. · 2016

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