Hamish S. Scott - Publications, H-index & Citations

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Hamish S. Scott

SA Pathology

80H-index

546Paper Count

2.3WCitation Count

Published Papers 181

Publication Date

Automated reanalysis of genomic data for rare disease diagnostics at scale

Nature Medicine

IF50

2026-06-24

OAAI

Matthew J. Welland; K. D. Ahlquist; Paul De Fazio; Christina Austin-Tse; Lynn Pais; Laura Wedd; Samantha Bryen; Rocio Rius; Michael Franklin; Caitlin Morrison; Giles Hall; Laura Gauthier; Alex Bloemendal; David I. Francis; Andrew J. Mallett; Amali Mallawaarachchi; Paul J. Lockhart; Richard Leventer; Ingrid E. Scheffer; Katherine B. Howell; Karin S. Kassahn; Hamish S. Scott; Julie McGaughran; John Christodoulou; David R. Thorburn; Bryony A. Thompson; Chirag V. Patel; Greg Smith; Anne O’Donnell-Luria; Simon Sadedin; Heidi L. Rehm; Sebastian Lunke; Jeremiah Wander; Kaitlin E. Samocha; Cas Simons; Daniel G. MacArthur; Zornitza Stark

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The germline landscape of pituitary adenomas: established and emerging predisposition genes

The Journal of Clinical Endocrinology and Metabolism

IF0

2026-05-16

OAAI

Edward Mignone; Alexandra Sorvina; David J Torpy; Hamish S Scott; Sunita M C De Sousa

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Shaping the future of multiple myeloma with artificial intelligence and digital twins: from concept to clinic

Frontiers in Digital Health

IF3.8

2026-03-22

OAAI

CH Cindy H. Lee †; YZ Yang Zhang †; BJ Barbara J. McClure †; AY Angelina Yong; HS Hamish S. Scott; CH Chung Hoow Kok †

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Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses

Human Genomics

IF4.3

2026-01-30

OAAI

Mahalia S. B. Frank; Melissa K. Bennett; Thuong T. Ha; Lynette Moore; Peer Arts; Alicia B. Byrne; Milena Babic; Luis Arriola-Martinez; John Toubia; Peter J. Brautigan; Jinghua Feng; Quenten Schwarz; Paul Q. Thomas; Sandra G. Piltz; Melissa A. White; Ali Moghimi; Kate Strachan; Edward Kwan; Amanda Springer; Miranda Lewit-Mendes; Jarrad Dearman; Tenielle Davis; Lucy Kevin; Hugh J. McCarthy; Jan Liebelt; Emma Krzesinski; Matthew Regan; Kunal Verma; George McGillivray; Kushani Jayasinghe; Matilda R. Jackson; Christopher P. Barnett; Hamish S. Scott

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Targeting RUNX1 Germline Variants: Agents Under Investigation

Current Hematologic Malignancy Reports

IF3.3

2025-12-16

OAAI

Saman Ghalamkari; Christopher N. Hahn; Amelia Lau; Hamish S. Scott; Claire C. Homan; Anna L. Brown

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Identification of Novel Susceptibility Genes for Early-Onset Colorectal Cancer Through Germline Rare Variant Burden Testing

Cancers 2025, Vol. 17, Page 3931

IF4.4

2025-12-09

OAAI

Ruocen Song; Reger R. Mikaeel; Zhongping He; Mehgan Horsnell; Wendy Uylaki; Weimin Meng; Nicola K. Poplawski; Bernd Wollnik; Yun Li; Jinghua Feng; Hamish S. Scott; Yufeng Shen; Chen Wang; Rui Yin; Yousong Ding; Xavier Llor; Wendy K. Chung; Eric Smith; Timothy J. Price; Joanne P. Young; Xiao Fan

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Circular RNAs accumulate in aging human placental tissue and in stillbirth, leading to DNA damage and cellular senescence

American Journal of Obstetrics and Gynecology

IF8.4

2025-08-29

OAAI

Anya L. ARTHURS; Matilda R. JACKSON; Dylan McCULLOUGH; Hamish S. SCOTT; Christopher P. BARNETT; Stuart T. WEBB; Melanie D. SMITH; Tanja JANKOVIC-KARASOULOS; Gustaaf A. DEKKER; Claire T. ROBERTS

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Evaluating the Clinical Utility of Genomic Sequencing After Perinatal Death

Clinical Genetics

IF2.3

2025-08-09

OAAI

Camille M. Schubert; Matilda R. Jackson; Christopher P. Barnett; Hamish S. Scott; Thomas Sullivan; Stephen Goodall; Tracy Merlin; the Genomic Autopsy Study Research Network

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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

genomics proteomics bioinformatics

IF2.8

2025-06-01

OAAI

Toubia, John; Kusay, Yasir; Maqsood, Muneeza; Warnock, Nicholas, I; Lawrence, David M.; Bracken, Cameron P.; Gregory, Philip A.; Kan, Winnie L.; Selth, Luke A.; Conn, Simon J.; Lopez, Angel F.; Branford, Susan; Scott, Hamish S.; Kok, Chung Hoow; Goodall, Gregory J.; Schreiber, Andreas W.

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RAS mutation identifies a poor prognostic molecular subtype of therapy-related myeloid neoplasm

Blood Advances

IF7.1

2025-05-26

OAAI

Chung Hoow Kok; Aref Al-Kali; Daniel Thomas; Rong He; Monika M. Kutyna; Hassan Alkhateeb; Kelly Lim; Antoine N. Saliba; Carla Toop; Aasiya Matin; Hamish Scott; Naseema Gangat; Anna Brown; Abhishek Mangaonkar; Christopher N. Hahn; Kebede Begna; Kevin Hung; Patricia Greipp; William J. Hogan; Mrinal Patnaik; Mithun Shah; Devendra K. Hiwase

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RBC transfusion dependency refines the Molecular International Prognostic Scoring System for myelodysplastic syndrome

Blood Advances

IF7.1

2025-04-25

OAAI

Thomas Wiseman; Michaela Spooner; Shreyas Khanna; Kevin Hung; Carla R. Toop; Monika Kutyna; Joanne Yu; Anna Brown; Hamish Scott; Christopher Hahn; Chung Hoow Kok; Devendra Hiwase

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Improving detection of monogenic diabetes through reanalysis of GCK variants of uncertain significance ( Jan, 10.1007/s00592-025-02449-8, 2025)

ACTA DIABETOLOGICA

IF2.9

2025-02-27

OAAI

De Sousa, Sunita M. C.; Phan, Jennifer M. N.; Wells, Amanda; Wu, Kathy H. C.; Scott, Hamish S.

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Improving detection of monogenic diabetes through reanalysis of GCK variants of uncertain significance

ACTA DIABETOLOGICA

IF2.9

2025-01-16

OAAI

De Sousa, Sunita M. C.; Phan, Jennifer M. N.; Wells, Amanda; Wu, Kathy H. C.; Scott, Hamish S.

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Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing

GENETICS IN MEDICINE

IF6.2

2025-01-01

PREAI

Ball, Megan; Bouffer, Sophie E.; Barnett, Christopher B.; Freckmann, Mary-Louise; Hunter, Matthew F.; Kamien, Benjamin; Kassahn, Karin S.; Lunke, Sebastian; Patel, Chirag, V; Pinner, Jason; Roscioli, Tony; Sandaradura, Sarah A.; Scott, Hamish S.; Tan, Tiong Y.; Wallis, Mathew; Compton, Alison G.; Thorburn, David R.; Stark, Zornitza; Christodoulou, John

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Dynamic Assessment of RBC-Transfusion Dependency (RBC-TD) Improves the Molecular International Prognostic

BLOOD

IF23.1

2024-11-05

PREAI

Wiseman, Thomas; Spooner, Michaela; Khanna, Shreyas; Hung, Kevin; Toop, Carla; Singhal, Deepak; Ross, David M.; Yeung, David; Brown, Anna; Scott, Hamish S.; Hahn, Christopher N.; Thomas, Daniel; Kok, Chung How; Hiwase, Devendra

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Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2024-10-14

OAAI

Fortuno, Cristina; Cops, Elisa J.; Davidson, Aimee L.; Hadler, Johanna; Innella, Giovanni; Mckenzie, Maddison E.; Parsons, Michael; Campbell, Ainsley M.; Dubowsky, Andrew; Fargas, Verna; Field, Michael J.; Mar Fan, Helen G.; Nichols, Cassandra B.; Poplawski, Nicola K.; Warwick, Linda; Williams, Rachel; Beshay, Victoria; Edwards, Caitlin; Johns, Andrea; Mcphillips, Mary; Kumar, Vanessa Siva; Scott, Rodney; Williams, Mark; Scott, Hamish; James, Paul A.; Spurdle, Amanda B.

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Pediatric Cancer Screening in Hereditary Gastrointestinal Cancer Risk Syndromes: An Update from the AACR Childhood Cancer Predisposition Working Group

CLINICAL CANCER RESEARCH

IF10.2

2024-08-27

OAAI

MacFarland, Suzanne P.; Becktell, Kerri; Schneider, Kami Wolfe; Kuiper, Roland P.; Lesmana, Harry; Meade, Julia; Nichols, Kim E.; Porter, Christopher C.; Savage, Sharon A.; Schultz, Kris Ann; Scott, Hamish; States, Lisa; Tabori, Uri; Tamura, Chieko; Tomlinson, Gail; Zelley, Kristin; Durno, Carol; Bauer, Andrew; Plon, Sharon E.

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Update on Recommendations for Surveillance for Children with Predisposition to Hematopoietic Malignancy

CLINICAL CANCER RESEARCH

IF10.2

2024-07-30

PREAI

Maese, Luke D.; Wlodarski, Marcin W.; Kim, Sun Young; Bertuch, Alison A.; Bougeard, Gaelle; Chang, Vivian Y.; Godley, Lucy A.; Khincha, Payal P.; Kuiper, Roland P.; Lesmana, Harry; McGee, Rose B.; McReynolds, Lisa J.; Meade, Julia; Plon, Sharon E.; Savage, Sharon A.; Scollon, Sarah R.; Scott, Hamish S.; Walsh, Michael F.; Nichols, Kim E.; Porter, Christopher C.

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Myeloid neoplasms arising after methotrexate therapy for autoimmune rheumatological diseases do not exhibit poor-risk molecular features

BLOOD CANCER JOURNAL

IF11.6

2024-07-19

OAAI

Wechalekar, Mihir D.; Zhao, Lin-Pierre; Kutyna, Monika M.; Hong, Lih En; Li, Joule; Hung, Kevin; Scott, Hamish S.; Brown, Anna; Hahn, Christopher C.; Kassahn, Karin; Ladon, Dariusz; Yeung, David T.; Thomas, Daniel; Patnaik, Mrinal; Proudman, Susanna; Ades, Lionel; Shah, Mithun V.; Kok, Chung H.; Hiwase, Devendra K.

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Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion

BLOOD ADVANCES

IF7.1

2024-06-27

PREAI

Venugopal, Parvathy; Arts, Peer; Fox, Lucy C.; Simons, Annet; Hiwase, Devendra K.; Bardy, Peter G.; Swift, Annette; Ross, David M.; van Vulpen, Lize F. D.; Buijs, Arjan; Bolton, Kelly L.; Getta, Bartlomiej; Furlong, Eliska; Carter, Tina; Krapels, Ingrid; Hoeks, Marlijn; Al Kindy, Adila; Al Kindy, Farah; de Munnik, Sonja; Evans, Pamela; Frank, Mahalia S. B.; Bournazos, Adam M.; Cooper, Sandra T.; Ha, Thuong Thi; Jackson, Matilda R.; Arriola-Martinez, Luis; Phillips, Kerry; Brennan, Yvonne; Bakshi, Madhura; Ambler, Karen; Gao, Song; Kassahn, Karin S.; Kenyon, Rosalie; Hung, Kevin; Babic, Milena; Mcgovern, Alan; Rawlings, Lesley; Vakulin, Cassandra; Dejong, Lucas; Fathi, Rema; Mcrae, Simon; Myles, Nicholas; Ladon, Dariusz; Jongmans, Marjolijn; Kuiper, Roland P.; Poplawski, Nicola K.; Barbaro, Pasquale; Blombery, Piers; Brown, Anna L.; Hahn, Christopher N.; Scott, Hamish S.

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Research Directions