Browse by UCL people
Group by: Type | Date
Number of items: 25.
Article
Abdul-Kadir, Rezan;
Gomez, Keith;
(2022)
Reproductive health and hemostatic issues in women and girls with congenital factor VII deficiency: A systematic review.
Journal of Thrombosis and Haemostasis
, 20
(12)
pp. 2758-2772.
10.1111/jth.15872.
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Carss, KJ;
Arno, G;
Erwood, M;
Stephens, J;
Sanchis-Juan, A;
Hull, S;
Megy, K;
... Raymond, FL; + view all
(2017)
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
American Journal of Human Genetics
, 100
(1)
pp. 75-90.
10.1016/j.ajhg.2016.12.003.
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Chen, L;
Kostadima, M;
Martens, JHA;
Canu, G;
Garcia, SP;
Turro, E;
Downes, K;
... Rendon, A; + view all
(2014)
Transcriptional diversity during lineage commitment of human blood progenitors.
Science
, 345
(6204)
, Article 1251033. 10.1126/science.1251033.
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Chowdary, P;
Agarwal, B;
Peralta, MR;
Bhagani, S;
Lee, S;
Goldring, J;
Lipman, M;
... Gomez, K; + view all
(2023)
Nebulized Recombinant Tissue Plasminogen Activator (rt-PA) for Acute COVID-19-Induced Respiratory Failure: An Exploratory Proof-of-Concept Trial.
Journal of Clinical Medicine
, 12
(18)
, Article 5848. 10.3390/jcm12185848.
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Chowdary, P;
Hamid, C;
Slatter, D;
Morris, R;
Foley, JH;
Gomez, K;
Brodkin, E;
... McVey, JH; + view all
(2020)
Impaired platelet-dependent thrombin generation associated with thrombocytopenia is improved by prothrombin complex concentrates in vitro.
Research and Practice in Thrombosis and Haemostasis
, 4
(2)
pp. 334-342.
10.1002/rth2.12310.
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Downes, Kate;
Borry, Pascal;
Ericson, Katrin;
Gomez, Keith;
Greinacher, Andreas;
Lambert, Michele;
Leinoe, Eva;
... Freson, Kathleen; + view all
(2020)
Clinical management, ethics and informed consent related to multi-gene panel-based high throughput sequencing testing for platelet disorders: Communication from the SSC of the ISTH.
Journal of Thrombosis and Haemostasis
, 18
(10)
pp. 2751-2758.
10.1111/jth.14993.
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Farmery, JHR;
Smith, ML;
Lynch, AG;
Huissoon, A;
Furnell, A;
Mead, A;
Levine, AP;
... Tan, Y; + view all
(2018)
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data (vol 8, 1300, 2018).
Scientific Reports
, 8
, Article 13376. 10.1038/s41598-018-31524-0.
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Farmery, JHR;
Smith, ML;
NIHR BioResource - Rare Diseases, .;
Lynch, AG;
Mead, A;
Levine, AP;
Manzur, A;
... Huissoon, A; + view all
(2018)
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data.
Scientific Reports
, 8
, Article 1300. 10.1038/s41598-017-14403-y.
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Giansily‐Blaizot, M;
Rallapalli, PM;
Perkins, SJ;
Kemball‐Cook, G;
Hampshire, DJ;
Gomez, K;
Ludlam, CA;
(2020)
The EAHAD blood coagulation factor VII variant database.
Human Mutation
10.1002/humu.24025.
(In press).
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Gomez, K;
(2022)
Advances in the diagnosis of heritable platelet disorders.
Blood Reviews
, 56
, Article 100972. 10.1016/j.blre.2022.100972.
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Gomez, Keith;
Laffan, Mike;
Bradbury, Charlotte;
(2021)
Debate: Should the dose or duration of anticoagulants for the prevention of venous thrombosis be increased in patients with COVID-19 while we are awaiting the results of clinical trials?
British Journal of Haematology
, 192
(3)
pp. 459-466.
10.1111/bjh.17241.
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Knight, AE;
Gomez, K;
Cutler, DF;
(2017)
Super-resolution microscopy in the diagnosis of platelet granule disorders.
Expert Review of Hematology
, 10
(5)
pp. 375-381.
10.1080/17474086.2017.1315302.
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McVey, JH;
Rallapalli, PM;
Kemball-Cook, G;
Hampshire, DJ;
Giansily-Blaizot, M;
Gomez, K;
Perkins, SJ;
(2020)
The European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation Factor Variant Databases: Important resources for haemostasis clinicians and researchers.
Haemophilia
, 26
(2)
pp. 306-313.
10.1111/hae.13947.
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Megy, Karyn;
Downes, Kate;
Morel-Kopp, Marie-Christine;
Bastida, Jose M;
Brooks, Shannon;
Bury, Loredana;
Leinoe, Eva;
... Freson, Kathleen; + view all
(2021)
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
Journal of Thrombosis and Haemostasis
, 19
(10)
pp. 2612-2617.
10.1111/jth.15459.
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Rhodes, CJ;
Batai, K;
Bleda, M;
Haimel, M;
Southgate, L;
Germain, M;
Pauciulo, MW;
... Winslow, C; + view all
(2019)
Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis.
The Lancet Respiratory Medicine
, 7
(3)
pp. 227-238.
10.1016/S2213-2600(18)30409-0.
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Turro, E;
Astle, WJ;
Megy, K;
Gräf, S;
Greene, D;
Shamardina, O;
Allen, HL;
... Ouwehand, WH; + view all
(2020)
Whole-genome sequencing of patients with rare diseases in a national health system.
Nature
, 583
pp. 96-102.
10.1038/s41586-020-2434-2.
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Wei, W;
Tuna, S;
Keogh, MJ;
Smith, KR;
Aitman, TJ;
Beales, PL;
Bennett, DL;
... Chinnery, PF; + view all
(2019)
Germline selection shapes human mitochondrial DNA diversity.
Science
, 364
(6442)
, Article eaau6520. 10.1126/science.aau6520.
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Westmoreland, D;
Shaw, M;
Grimes, W;
Metcalf, DJ;
Burden, JJ;
Gomez, K;
Knight, AE;
(2016)
Super-resolution microscopy as a potential approach to platelet granule disorder diagnosis.
Journal of Thrombosis and Haemostasis
, 14
(4)
10.1111/jth.13269.
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Whitworth, J;
Smith, PS;
Martin, J-E;
West, H;
Luchetti, A;
Rodger, F;
Clark, G;
... Maher, ER; + view all
(2018)
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
The American Journal of Human Genetics
, 103
(1)
pp. 3-18.
10.1016/j.ajhg.2018.04.013.
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Report
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Gomez, Charles;
(2021)
Atrial fibrillation: diagnosis and management.
(NICE guideline
NG196
).
National Institute for Health and Care Excellence (NICE)
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HSIB;
(2022)
Clinical decision making: diagnosis and treatment of pulmonary embolism in emergency departments.
Healthcare Safety Investigation Branch
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Royal College of Physicians;
Royal College of Pathologists;
British Society for Genetic Medicine;
(2022)
Genetic testing in childhood: Guidance for clinical practice.
Royal College of Physicians, Royal College of Pathologists and British Society for Genetic Medicine: London, UK.
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Poster
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Sharma, Gargi;
Day, James;
Haldon, Rosemary;
Aradom, Elsa;
Chowdhary, Pratima;
Drebes, Anja;
Gomez, Keith;
... Batty, Paul; + view all
(2025)
Audit of a Multidisciplinary Follow-Up Pathway of Acquired Haemophilia A.
Presented at: 65th Annual Scientific Meeting of the British Society for Haematology, Glasgow, UK.
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Thesis
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Gomez, Charles Keith Rizleigh;
(2007)
Demonstration of Tissue Factor expression using a Tissue Factor – Green Fluorescent Protein Reporter Model.
Doctoral thesis (Ph.D), Imperial College, University of London.
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Thomas, ASB;
(2014)
Vascular events in Fabry and Gaucher disease.
Doctoral thesis , UCL (University College London).
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