Publications by authors named "Hamish Scott"

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Evaluating the Clinical Utility of Genomic Sequencing After Perinatal Death.
Camille M Schubert, Matilda R Jackson, Christopher P Barnett, Hamish S Scott, Thomas Sullivan

Clin Genet· January 2026

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Targeting RUNX1 Germline Variants: Agents Under Investigation.
Saman Ghalamkari, Christopher N Hahn, Amelia Lau, Hamish S Scott, Claire C Homan

Curr Hematol Malig Rep· December 2025

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Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses.
Mahalia S B Frank, Melissa K Bennett, Thuong T Ha, Lynette Moore, Peer Arts, Hamish S Scott

Hum Genomics· November 2025

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Evaluating NGS variant callers in a challenging genomic context with a focus on the PRSS1-PRSS2 locus for hereditary pancreatitis.
Yasir Kusay, Denghao Wu, Sunita Mc De Sousa, Christopher J Drogemuller, P Toby Coates, Hamish S Scott

Gut· November 2025

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Correction: Improving detection of monogenic diabetes through reanalysis of GCK variants of uncertain significance.
Sunita M C De Sousa, Jennifer M N Phan, Amanda Wells, Kathy H C Wu, Hamish S Scott

Acta Diabetol· October 2025

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Prognostic Implication of Karyotypic Evaluation in Patients With Richter Transformation in the Modern Era.
Cecelia R Miller, Ying Huang, John N Allan, Seema A Bhat, David Bond, Hamish Scott

Am J Hematol· September 2025

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Improving detection of monogenic diabetes through reanalysis of GCK variants of uncertain significance.
Sunita M C De Sousa, Jennifer M N Phan, Amanda Wells, Kathy H C Wu, Hamish S Scott

Acta Diabetol· August 2025

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The PreGen Research Program: Implementing Prenatal Genomic Testing in Australia-A Commentary.
Sarah Long, Deborah Schofield, Josh Kraindler, Rebecca Vink, Kate Ross, Hamish Scott

Aust N Z J Obstet Gynaecol· August 2025

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RBC transfusion dependency refines the Molecular International Prognostic Scoring System for myelodysplastic syndrome.
Thomas Wiseman, Michaela Spooner, Shreyas Khanna, Kevin Hung, Carla R Toop, Hamish Scott

Blood Adv· August 2025

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RAS mutation identifies a poor prognostic molecular subtype of therapy-related myeloid neoplasm.
Chung Hoow Kok, Aref Al-Kali, Daniel Thomas, Rong He, Monika M Kutyna, Hamish Scott

Blood Adv· August 2025

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Circular RNAs accumulate in aging human placental tissue and in stillbirth, leading to DNA damage and cellular senescence.
Anya L Arthurs, Matilda R Jackson, Dylan McCullough, Hamish S Scott, Christopher P Barnett

Am J Obstet Gynecol· August 2025

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Evidence-based risk stratification of myeloid neoplasms harboring TP53 mutations.
Mithun Vinod Shah, Kevin Hung, Anmol Baranwal, Monika M Kutyna, Aref Al-Kali, Hamish S Scott

Blood Adv· July 2025

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TRanscriptome ANalysis of StratifiEd CohorTs (TRANSECT) enables automated assessment of global gene regulation linked to disparate expression in user defined genes and gene sets.
John Toubia, Yasir Kusay, Muneeza Maqsood, Nicholas I Warnock, David M Lawrence, Hamish S Scott

NAR Genom Bioinform· June 2025

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Another Fanconi anemia gene joins the club.
Claire C Homan, Hamish S Scott, Parvathy Venugopal

J Clin Invest· June 2025

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Case Report: A heterozygous loss-of-function variant of the gene in a family with vascular pathologies.
Philipp Erhart, Nicola Dikow, Eva M C Schwaibold, Susanne Dihlmann, Caspar Grond-Ginsbach, Hamish S Scott

Front Cardiovasc Med· June 2025

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Response to venetoclax in patients with blastic plasmacytoid dendritic cell neoplasm.
Kirsty M Sharplin, Catherine Vassiliou, James Nguyen, Bryone J Kuss, Stephen B Ting, Hamish Scott

Leuk Res· May 2025

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Validation of the 5th edition of the World Health Organization and International Consensus Classification guidelines for TP53-mutated myeloid neoplasm in an independent international cohort.
Mithun Vinod Shah, Kevin Hung, Anmol Baranwal, Gauri Wechalekar, Aref Al-Kali, Hamish S Scott

Blood Cancer J· May 2025

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Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts.
Matthew J Welland, K D Ahlquist, Paul De Fazio, Christina Austin-Tse, Lynn Pais, Hamish S Scott

medRxiv· May 2025

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Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets.
Ben Weisburd, Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Hamish S Scott

Genet Med· April 2025

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Germline copy number variants in RUNX1: An updated case report and a decade-old red herring.
Natalie T Deuitch, Amra Kajdic, Erica Bresciani, Marshall S Horwitz, Hamish S Scott

BJC Rep· March 2025

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Outcomes of patients with Richter transformation who received no prior chemoimmunotherapy for their CLL.
Adam S Kittai, Ying Huang, Sarah Miller, John N Allan, Seema A Bhat, Hamish W Scott

Blood Cancer J· February 2025

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Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing.
Megan Ball, Sophie E Bouffler, Christopher B Barnett, Mary-Louise Freckmann, Matthew F Hunter, Hamish S Scott

Genet Med· January 2025

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Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres.
Cristina Fortuno, Elisa J Cops, Aimee L Davidson, Johanna Hadler, Giovanni Innella, Rodney Scott, Hamish Scott

Eur J Hum Genet· December 2024

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Germline genetic variants that predispose to myeloproliferative neoplasms and hereditary myeloproliferative phenotypes.
Jonathan Lim, David M Ross, Anna L Brown, Hamish S Scott, Christopher N Hahn

Leuk Res· November 2024

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Pediatric Cancer Screening in Hereditary Gastrointestinal Cancer Risk Syndromes: An Update from the AACR Childhood Cancer Predisposition Working Group.
Suzanne P MacFarland, Kerri Becktell, Kami Wolfe Schneider, Roland P Kuiper, Harry Lesmana, Hamish Scott

Clin Cancer Res· October 2024

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