Hamish Scott
Overview
Explore the profile of Hamish Scott including associated specialties, affiliations and a list of published articles.
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Articles
17
Citations
243
Followers
0
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Recent Articles
1.
Fortuno C, Cops E, Davidson A, Hadler J, Innella G, McKenzie M, et al.
Eur J Hum Genet
. 2024 Oct;
32(12):1632-1639.
PMID: 39402389
Breast cancer remains a significant global health challenge. In Australia, the adoption of publicly-funded multigene panel testing for eligible cancer patients has increased accessibility to personalised care, yet has also...
2.
MacFarland S, Becktell K, Schneider K, Kuiper R, Lesmana H, Meade J, et al.
Clin Cancer Res
. 2024 Aug;
30(20):4566-4571.
PMID: 39190470
Gastrointestinal (GI) polyposis and cancer in pediatric patients is frequently due to an underlying hereditary cancer risk syndrome requiring ongoing cancer screening. Identification of at-risk patients through family history, clinical...
3.
Best S, Fehlberg Z, Richards C, Quinn M, Lunke S, Spurdle A, et al.
Eur J Hum Genet
. 2024 May;
32(11):1428-1435.
PMID: 38796577
Reanalyzing stored genomic data over time is highly effective in increasing diagnostic yield in rare disease. Automation holds the promise of delivering the benefits of reanalysis at scale. Our study...
4.
Kittai A, Bond D, Huang Y, Bhat S, Blyth E, Byrd J, et al.
J Clin Oncol
. 2024 Mar;
42(17):2071-2079.
PMID: 38552193
Purpose: Outcomes for Richter transformation (RT) are poor with current therapies. The efficacy and safety of anti-CD19 chimeric antigen receptor T-cell therapy (CAR-T) for RT are not established. Methods: We...
5.
Ghaoui R, Ha T, Kerkhof J, McConkey H, Gao S, Babic M, et al.
Neuromuscul Disord
. 2023 May;
33(6):484-489.
PMID: 37209493
Pathogenic variants in DNMT3A are most commonly associated with Tatton-Brown-Rahman Syndrome (TBRS), but includes other phenotypes such as Heyn-Sproul-Jackson syndrome and acute myeloid leukemia (AML). We describe a patient presenting...
6.
Hiwase D, Hahn C, Tran E, Chhetri R, Baranwal A, Al-Kali A, et al.
Blood
. 2022 Dec;
141(9):1087-1091.
PMID: 36574363
No abstract available.
7.
Shanmuganathan N, Wadham C, Thomson D, Shahrin N, Vignaud C, Obourn V, et al.
J Mol Diagn
. 2022 May;
24(7):803-822.
PMID: 35550185
Mutation detection is increasingly used for the management of hematological malignancies. Prior whole transcriptome and whole exome sequencing studies using total RNA and DNA identified diverse mutation types in cancer-related...
8.
Wilson M, Eyre T, Kirkwood A, Doo N, Soussain C, Choquet S, et al.
Blood
. 2022 Jan;
139(16):2499-2511.
PMID: 34995350
Prophylactic high-dose methotrexate (HD-MTX) is often used for diffuse large B-cell lymphoma (DLBCL) patients at high risk of central nervous system (CNS) relapse, despite limited evidence demonstrating efficacy or the...
9.
Mikaeel R, Young J, Li Y, Poplawski N, Smith E, Horsnell M, et al.
Clin Genet
. 2021 Sep;
101(1):122-126.
PMID: 34541672
The role of RNF43 as a cause of an inherited predisposition to colorectal cancer (CRC) is yet to be fully explored. This report presents our findings of two individuals with...
10.
Ravindran E, Juhlen R, Vieira-Vieira C, Ha T, Salzberg Y, Fichtman B, et al.
Hum Mol Genet
. 2021 Jun;
30(22):2068-2081.
PMID: 34170319
Primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders (MCPH-SCKS) include a heterogeneous group of autosomal recessive inherited diseases characterized by primary (congenital) microcephaly, the absence of visceral abnormalities, and...