Simon G Williams
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Explore the profile of Simon G Williams including associated specialties, affiliations and a list of published articles.
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109
Citations
2076
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Recent Articles
21.
Skoric-Milosavljevic D, Lahrouchi N, Bosada F, Dombrowsky G, Williams S, Lesurf R, et al.
Genet Med
. 2021 Sep;
23(10):2013.
PMID: 34522030
No abstract available.
22.
Williams S, Byrne D, Keavney B
J Hum Genet
. 2021 Sep;
67(2):123-125.
PMID: 34493817
Congenital heart disease (CHD) has a complex and largely uncharacterised genetic etiology. Using 200,000 UK Biobank (UKB) exomes, we assess the burden of ultra-rare, potentially pathogenic variants in the largest...
23.
Lewis G, Dodd S, Clayton D, Bedson E, Eccleson H, Schelbert E, et al.
Nat Med
. 2021 Aug;
27(8):1477-1482.
PMID: 34385704
In heart failure with preserved ejection fraction (HFpEF), the occurrence of myocardial fibrosis is associated with adverse outcome. Whether pirfenidone, an oral antifibrotic agent without hemodynamic effect, is efficacious and...
24.
Reuter M, Chaturvedi R, Jobling R, Pellecchia G, Hamdan O, Sung W, et al.
Circ Genom Precis Med
. 2021 Jul;
14(4):e003410.
PMID: 34328347
Background: Tetralogy of Fallot (TOF)-the most common cyanotic heart defect in newborns-has evidence of multiple genetic contributing factors. Identifying variants that are clinically relevant is essential to understand patient-specific disease...
25.
Skoric-Milosavljevic D, Lahrouchi N, Bosada F, Dombrowsky G, Williams S, Lesurf R, et al.
Genet Med
. 2021 Jun;
23(10):1952-1960.
PMID: 34113005
Purpose: Rare genetic variants in KDR, encoding the vascular endothelial growth factor receptor 2 (VEGFR2), have been reported in patients with tetralogy of Fallot (TOF). However, their role in disease...
26.
McGurk K, Williams S, Guo H, Watkins H, Farrall M, Cordell H, et al.
Hum Mol Genet
. 2021 Jan;
30(6):500-513.
PMID: 33437986
Signalling lipids of the N-acyl ethanolamine (NAE) and ceramide (CER) classes have emerged as potential biomarkers of cardiovascular disease (CVD). We sought to establish the heritability of plasma NAEs (including...
27.
Lewis G, Pearce K, Williams S, Schelbert E, Macnab A, Miller C
Heart Fail Rev
. 2020 Nov;
26(3):661-678.
PMID: 33155067
Heart failure with preserved ejection fraction (HFpEF) does not exist as a singular clinical or pathological entity but as a syndrome encompassing a wide range of clinical and biological phenotypes....
28.
Williams S, Nakev A, Guo H, Frain S, Tenin G, Liakhovitskaia A, et al.
Eur J Hum Genet
. 2020 Apr;
28(9):1265-1273.
PMID: 32327713
Deletion of a non-imprinted 500kb genomic region at chromosome 15q11.2, between breakpoints 1 and 2 of the Prader-Willi/Angelman locus (BP1-BP2 deletion), has been associated in previous studies with phenotypes including...
29.
Beattie J, Khatib R, Phillips C, Williams S
Open Heart
. 2020 Mar;
7(1):e001153.
PMID: 32201585
Objectives: Iron deficiency (ID), with or without anaemia (IDA), is an important comorbidity in people with chronic heart failure (HF), but the prevalence and significance in those admitted with HF...
30.
Lewis G, Schelbert E, Naish J, Bedson E, Dodd S, Eccleson H, et al.
Cardiovasc Drugs Ther
. 2019 May;
33(4):461-470.
PMID: 31069575
Background: The PIROUETTE (PIRfenidOne in patients with heart failUre and preserved lEfT venTricular Ejection fraction) trial is designed to evaluate the efficacy and safety of the anti-fibrotic pirfenidone in patients...