Simon G. Williams
University of Manchester
Internal medicineSurgeryMagnetic resonance imagingCardiologyExome sequencingIntensive care medicinePediatricsHeart failureTetralogy of FallotHeart transplantationHeart diseasePopulationTransplantationMutationGeneticsBioinformaticsMedicineEjection fractionBiology
147Publications
34H-index
3,427Citations
Publications 151
Newest
#1Gavin A. LewisH-Index: 4
#2Anna Rosala-HallasH-Index: 8
Last. Christopher A. MillerH-Index: 20
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#1Irit Hochberg (Technion – Israel Institute of Technology)H-Index: 12
#2Leigh A M Demain (University of Manchester)H-Index: 6
Last. Edgard VerduraH-Index: 7
view all 40 authors...
Human mitochondrial RNase P (mt-RNase P) is responsible for 5' end processing of mitochondrial precursor tRNAs, a vital step in mitochondrial RNA maturation, and is comprised of three protein subunits: TRMT10C, SDR5C1 (HSD10), and PRORP. Pathogenic variants in TRMT10C and SDR5C1 are associated with distinct recessive or x-linked infantile onset disorders, resulting from defects in mitochondrial RNA processing. We report four unrelated families with multisystem disease associated with bi-allelic ...
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#1Doris Škorić-Milosavljević (UvA: University of Amsterdam)H-Index: 4
#2Najim Lahrouchi (UvA: University of Amsterdam)H-Index: 11
Last. Jeroen Breckpot (CUA: The Catholic University of America)H-Index: 9
view all 48 authors...
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 causality and pathogenesis remains unclear. Methods: We conducted exome sequencing in a familial case of TOF and large-scale genetic studies, including burden testing, in >1,500 patients with TOF. We studied gene-targeted mice and conducted cell-based assays to explore the role of KDR genetic vari...
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#1Gavin A. Lewis (University of Manchester)H-Index: 4
#2Susanna Dodd (University of Liverpool)H-Index: 23
Last. Colin Cunnington (University of Manchester)H-Index: 18
view all 17 authors...
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 safe for the treatment of HFpEF is unknown. In this double-blind, phase 2 trial ( null null null null null null null null null null null null null NCT02932566 null null null null null null null null null null null null null null null null null null null null null null nul...
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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 susceptibility and outcomes, and could contribute to delineating pathomechanisms. Methods - Using a clinically-driven strategy, we re-analyzed exome sequencing data from 811 probands with TOF, to identify rare loss-of-function and other likely pathogen...
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#1Doris Škorić-Milosavljević (UvA: University of Amsterdam)H-Index: 4
#2Najim Lahrouchi (UvA: University of Amsterdam)H-Index: 11
Last. Jeroen Breckpot (CUA: The Catholic University of America)H-Index: 9
view all 48 authors...
Purpose null 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 causality and pathogenesis remains unclear. null Methods null We conducted exome sequencing in a familial case of TOF and large-scale genetic studies, including burden testing, in >1,500 patients with TOF. We studied gene-targeted mice and conducted cell-based assays to explore the role of KDR...
Source
#2Steven M. ShawH-Index: 15
Last. Simon G. WilliamsH-Index: 34
view all 4 authors...
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#1Simon G. Williams (University of Manchester)H-Index: 34
#2Byrne D (University of Manchester)
Last. Bernard Keavney (MAHSC: Manchester Academic Health Science Centre)H-Index: 63
view all 3 authors...
Several genes have been associated with congenital heart disease (CHD) risk in previous GWAS and sequencing studies, but studies involving larger numbers of case samples remain needed to facilitate further understanding of what remains a complex and largely uncharacterised genetic etiology. Here we use whole exome sequencing data from 200,000 samples in the UK Biobank to assess ultra-rare and potentially pathogenic variation associated with increased risk of CHD. Our findings indicate that rare ...
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#1Gavin A. Lewis (MAHSC: Manchester Academic Health Science Centre)H-Index: 4
#2Keith Pearce (University of Manchester)H-Index: 7
Last. Christopher A. Miller (University of Manchester)H-Index: 20
view all 6 authors...
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. There is an urgent need to progress from the unsuccessful 'one-size-fits-all' approach to more precise disease classification, in order to develop targeted therapies, personalise risk stratification and guide future research. In this regard, this review discusses the current and emerging roles of car...
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#1Rebecca Lee (Francis Crick Institute)H-Index: 19
BACKGROUND: Cancer patients are at increased risk of death from severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Cancer and its treatment affect many haematological and biochemical parameters, therefore we analysed these prior to and during coronavirus disease 2019 (COVID-19) and correlated them with outcome. PATIENTS AND METHODS: Consecutive patients with cancer testing positive for SARS-CoV-2 in centres throughout the United Kingdom were identified and entered into a database foll...
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