Rachel Robinson
Overview
Explore the profile of Rachel Robinson including associated specialties, affiliations and a list of published articles.
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Articles
48
Citations
982
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Recent Articles
1.
Garrett A, Allen S, Durkie M, Burghel G, Robinson R, Callaway A, et al.
Genet Med
. 2024 Nov;
27(2):101305.
PMID: 39489894
Purpose: Current practice is to report and manage likely pathogenic/pathogenic variants in a given cancer susceptibility gene as though having equivalent penetrance, despite increasing evidence of intervariant variability in risk...
2.
Rowlands C, Garrett A, Allen S, Durkie M, Burghel G, Robinson R, et al.
J Med Genet
. 2024 Sep;
61(10):983-991.
PMID: 39227160
Background: The 2015 American College of Medical Genetics/Association of Molecular Pathology (ACMG/AMP) variant classification framework specifies that case-control observations can be scored as 'strong' evidence (PS4) towards pathogenicity. Methods: We...
3.
McDevitt T, Durkie M, Arnold N, Burghel G, Butler S, Claes K, et al.
Eur J Hum Genet
. 2024 Aug;
PMID: 39095510
No abstract available.
4.
McDevitt T, Durkie M, Arnold N, Burghel G, Butler S, Claes K, et al.
Eur J Hum Genet
. 2024 Mar;
32(5):479-488.
PMID: 38443545
Hereditary Breast and Ovarian Cancer (HBOC) is a genetic condition associated with increased risk of cancers. The past decade has brought about significant changes to hereditary breast and ovarian cancer...
5.
Robinson R, Madge S
Br J Nurs
. 2024 Feb;
33(3):132-138.
PMID: 38335100
Background: Redeployment in health care can have a negative impact on the mental wellbeing of staff. Advanced planning and provisions for wellbeing support for health professionals has been recommended following...
6.
Allen S, Loong L, Garrett A, Torr B, Durkie M, Drummond J, et al.
J Med Genet
. 2023 Dec;
61(4):305-312.
PMID: 38154813
Background: National and international amalgamation of genomic data offers opportunity for research and audit, including analyses enabling improved classification of variants of uncertain significance. Review of individual-level data from National...
7.
Bradshaw D, Abramowicz I, Bremner S, Verma S, Gilleece Y, Kirk S, et al.
PLoS One
. 2023 Jul;
18(7):e0288598.
PMID: 37450478
Objectives: Maraviroc may reduce hepatic inflammation in people with HIV and non-alcoholic fatty liver disease (HIV-NAFLD) through CCR5-receptor antagonism, which warrants further exploration. Methods: We performed an open-label 96-week randomised-controlled...
8.
Keats K, Robinson R, Patel M, Wallace A, Albrecht S
J Pharm Pract
. 2023 Jul;
37(4):1015-1020.
PMID: 37421600
Ascorbic acid has been proposed as an alternative treatment for methemoglobinemia in patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency. However, its efficacy has never been compared to that of methylene blue...
9.
Jiang C, Robinson R, Vandenberg R, Milovic M, Neville L
Environ Geochem Health
. 2023 May;
45(8):5799-5811.
PMID: 37147552
Freeze-drying is widely used in geochemical laboratories for preparing wet solid environmental samples such as sediments and soils before being analyzed for their contents and states of various metal elements...
10.
Frey C, Park R, Robinson R, Yoder C
Endocrinol Metab Clin North Am
. 2023 Feb;
52(1):119-133.
PMID: 36754488
Lower extremity ulcerations are very common in patients with diabetes. These wounds lead to amputation in a surprisingly large percentage of patients with diabetes. The mortality rate following amputation in...