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James Drummond
Observed names:
Drummond, James,
J Drummond,
J. Drummond,
JAMES DRUMMOND,
James P. Drummond
Institution:
Royal North Shore Hospital
Observed institutions:
The University of Sydney,
University of Cambridge,
Royal North Shore Hospital,
Cambridge University Hospitals NHS Foundation Trust,
Northern Cancer Institute,
Addenbrooke's Hospital
show all 6
OpenAlex ID:
A5017367346
Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes
2021
·
C. Cubuk
, A. Garrett
, et al.
·
Genetics in Medicine
·
79
PDF
White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene
2009
·
ARTEMIS D GIKA
, ATA SIDDIQUI
, et al.
·
Developmental Medicine & Child Neurology
·
63
New paradigms for BRCA1/BRCA2 testing in women with ovarian cancer: results of the Genetic Testing in Epithelial Ovarian Cancer (GTEOC) study
2016
·
Inga Plaskocinska
, Hannah Shipman
, et al.
·
Journal of Medical Genetics
·
62
PDF
Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations
2020
·
Alice Garrett
, Miranda Durkie
, et al.
·
Journal of Medical Genetics
·
59
PDF
Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network
2020
·
Alice Garrett
, Alison Callaway
, et al.
·
Journal of Medical Genetics
·
52
Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK)
2022
·
Lucy Loong
, Alice Garrett
, et al.
·
Genetics in Medicine
·
30
Germline predisposition to haematological malignancies: Best practice consensus guidelines from the UK Cancer Genetics Group ( UKCGG) , CanGene‐CanVar and the NHS England Haematological Oncology Working Group
2023
·
Beverley Speight
, Helen Hanson
, et al.
·
British Journal of Haematology
·
22
PDF
Evaluation of universal immunohistochemical screening of sebaceous neoplasms in a service setting
2018
·
K. Schon
, E. Rytina
, et al.
·
Clinical and Experimental Dermatology
·
21
Advancements in multiple sclerosis
2025
·
Turlough Montague
, James Drummond
, et al.
·
Internal Medicine Journal
·
20
Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor
2020
·
Raman Kumar
, Elizabeth Palmer
, et al.
·
Frontiers in Molecular Neuroscience
·
20
PDF
UK recommendations for SDHA germline genetic testing and surveillance in clinical practice
2022
·
Helen Hanson
, Miranda Durkie
, et al.
·
Journal of Medical Genetics
·
19
PDF
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD
2021
·
Alice Garrett
, Chey Loveday
, et al.
·
Genetics in Medicine
·
14
PDF
A germline mosaic BRCA1 exon deletion in a woman with bilateral basal‐like breast cancer
2012
·
I Delon
, A Taylor
, et al.
·
Clinical Genetics
·
14
Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996–2020: development of a national resource of patient-level genomics laboratory records
2022
·
Lucy Loong
, Catherine Huntley
, et al.
·
Journal of Medical Genetics
·
13
PDF
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants
2021
·
Lucy Loong
, Cankut Cubuk
, et al.
·
Genetics in Medicine
·
12
PDF
Fulminant thymomatous AMPAR-antibody limbic encephalitis with hypertonic coma, bruxism, an isoelectric electroencephalogram and temporal cortical atrophy, with recovery
2019
·
Nicolás Urriola
, Kavie Soosapilla
, et al.
·
BMJ Case Reports
·
8
Low-level constitutional mosaicism of BRCA1 in two women with young onset ovarian cancer
2022
·
B. Speight
, E. Colvin
, et al.
·
Hereditary Cancer in Clinical Practice
·
7
PDF
FET PET in the evaluation of indeterminate brain lesions on MRI: Differentiating glioma from other non-neoplastic causes – A pilot study
2018
·
David L. Chan
, Edward Hsiao
, et al.
·
Journal of Clinical Neuroscience
·
7
The role of amino acid PET in radiotherapy target volume delineation for adult-type diffuse gliomas: A review of the literature
2024
·
Patrick J. Horsley
, Dale L. Bailey
, et al.
·
Critical Reviews in Oncology/Hematology
·
6
Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey
2023
·
Sophie Allen
, Lucy Loong
, et al.
·
Journal of Medical Genetics
·
6
PDF
The MANGO study: a prospective investigation of oxygen enhanced and blood-oxygen level dependent MRI as imaging biomarkers of hypoxia in glioblastoma
2023
·
Caterina Brighi
, David E. J. Waddington
, et al.
·
Frontiers in Oncology
·
6
PDF
A case report of a transient splenial lesion related to HaNDL syndrome
2020
·
Ruaridh Cameron Smail
, Jonathan Baird-Gunning
, et al.
·
Cephalalgia
·
5
2-Hydroxyglutarate magnetic resonance spectroscopy for preoperative IDH molecular profiling – A review of the literature and real-world clinical translation in a busy neurosurgical neuro-oncology unit
2025
·
Frances Anne McHugh
, James Jiang
, et al.
·
Journal of Clinical Neuroscience
·
4
Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC and renal cancer
2025
·
Sophie Allen
, Charlie F. Rowlands
, et al.
·
Genetics in Medicine
·
3
The use of Sonidegib in the adjuvant and advanced phases of Sonic Hedge Hog Mutant Medulloblastomas
2022
·
Alexander K Yuile
, Marina Kastelan
, et al.
·
Oxford Medical Case Reports
·
3
PDF
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Works count:
43
Citation count:
563
H-index:
13
I10-index:
15
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