Simon Williams

2023

Clinical risk associated with COVID-19 among 86000 patients with congenital heart disease

Williams, S. G., Frain, S., Guo, H., Carr, M. J., Ashcroft, D. M. & Keavney, B. D., 14 Dec 2023, In: Open Heart. 10, 2, e002415.

Research output: Contribution to journal › Article › peer-review

Open Access

2022

Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia

Taylor, R. L., Soriano, C. S., Williams, S., Dzulova, D., Ashworth, J., Hall, G., Gale, T., Lloyd, I. C., Inglehearn, C. F., Toomes, C., Douzgou, S. & Black, G., 4 Mar 2022, In: Orphanet Journal of Rare Diseases. 17, 110.

Research output: Contribution to journal › Article › peer-review

Open Access

Joint analysis of functionally related genes yields further candidates associated with Tetralogy of Fallot

Chelu, A., Williams, S., Keavney, B. D. & Talavera, D., 20 Jun 2022, In: Journal of Human Genetics.

Research output: Contribution to journal › Article › peer-review

Open Access

Significantly increased risk of chronic obstructive pulmonary disease amongst adults with predominantly mild congenital heart disease

Byrne, D., Williams, S. G., Nakev, A., Frain, S., Baross, S., Vestbo, J., Keavney, B. & Talavera, D., 4 Nov 2022, In: Scientific Reports. 12, 1, 18703.

Research output: Contribution to journal › Article › peer-review

Open Access

2021

A novel RNA-mediated mechanism causing down-regulation of insulating promoter interactions in human embryonic stem cells

Liu, Y., Williams, S., Jones, H., Keavney, B. & Choy, M.-K., 1 Dec 2021, In: Scientific Reports. 11, 23233.

Research output: Contribution to journal › Article › peer-review

Open Access

Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations

Hochberg, I., Demain, L., Richer, J., Thompson, K., Urquhart, J., Rea, A., Pagarkar, W., Rodriguez-Palmero, A., Beaman, G., O'Sullivan, J., Williams, S., Bhaskar, S., O'Keefe, R., Newman, W. & Munro, K., 28 Oct 2021, In: American Journal of Human Genetics. 108, 11, p. 2195-2204 10 p.

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Open Access

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Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for Tetralogy of Fallot

Reuter, M., Chaturvedi, R., Jobling, R., Pellecchia, G., Hamdan, O., Chung, W., Nalpathamkalam, T., Silversides, C., Wald, R., Marshall, C., Williams, S., Keavney, B., Thiruvahindrapuram, B., Scherer, S. & Bassett, A., Aug 2021, In: Circulation: Genomic and precision medicine. 14, 4, p. 476-484 e003410.

Research output: Contribution to journal › Article › peer-review

Heritability and family-based GWAS analyses of the N-acyl ethanolamine and ceramide plasma lipidome

McGurk, K., Williams, S., Guo, H., Watkins, H., Farrall, M., Cordell, H. J., Nicolaou, A. & Keavney, B., 15 Mar 2021, In: Human Molecular Genetics.

Research output: Contribution to journal › Article › peer-review

Open Access

Rare GATA6 variants associated with risk of congenital heart disease phenotypes in 200,000 UK Biobank exomes

Williams, S., Byrne, D. & Keavney, B., 7 Sept 2021, In: Journal of Human Genetics. 66, p. 123 - 125 3 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.

Škorić-Milosavljević, D., Lahrouchi, N., Bosada, F., Dombrowsky, G., Williams, S., Lesurf, R., Tjong, F., Walsh, R., El, B. I., Breckpot, J., Audain, E., Bezzina, C. & Keavney, B., 10 Jun 2021, In: Genetics in medicine : official journal of the American College of Medical Genetics.

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Open Access

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2020

Association of congenital cardiovascular malformation and neuropsychiatric phenotypes with 15q11.2 (BP1-BP2) deletion in the UK Biobank

Williams, S., Nakev, A., Guo, H., Frain, S., Tenin, G., Liakhovitskaia, A., Priest, J., Hentges, K. & Keavney, B., 1 Sept 2020, In: European Journal of Human Genetics. 28, p. 1265–1273

Research output: Contribution to journal › Article › peer-review

Open Access

2019

Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease

Fotiou, E., Williams, S., Martin-Geary, A., Robertson, D., Tenin, BSc, MSc, PhD, G., Hentges, K. & Keavney, B., 2019, In: Circulation.

Research output: Contribution to journal › Article › peer-review

Open Access

Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot

Page, D. J., Miossec, M. J., Williams, S. G., Monaghan, R. M., Fotiou, E., Cordell, H. J., Sutcliffe, L., Topf, A., Bourgey, M., Bourque, G., Eveleigh, R., Dunwoodie, S. L., Winlaw, D. S., Bhattacharya, S., Breckpot, J., Devriendt, K., Gewillig, M., Brook, J. D., Setchfield, K. J. & Bu'Lock, F. A. & 14 others, O'Sullivan, J., Stuart, G., Bezzina, C. R., Mulder, B. J. M., Postma, A. V., Bentham, J. R., Baron, M., Bhaskar, S. S., Black, G. C., Newman, W. G., Hentges, K. E., Lathrop, G. M., Santibanez-Koref, M. & Keavney, B. D., 15 Feb 2019, In: Circulation research. 124, 4, p. 553-563 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

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2018

Author Correction: Promoter interactome of human embryonic stem cell-derived cardiomyocytes connects GWAS regions to cardiac gene networks

Choy, M.-K., Javierre, B. M., Williams, S., Baross, S., Liu, Y., Wingett, S. W., Akbarov, A., Wallace, C., Freire-Pritchett, P., Rugg-Gunn, P. J., Spivakov, M., Fraser, P. & Keavney, B., Dec 2018, In: Nature Communications.

Research output: Contribution to journal › Article › peer-review

Promoter interactome of human embryonic stem cell-derived cardiomyocytes connects GWAS regions to cardiac gene networks

Choy, M.-K., Javierre, B. M., Williams, S., Baross, S., Liu, Y., Wingett, S. W., Akbarov, A., Wallace, C., Freire-Pritchett, P., Rugg-Gunn, P. J., Spivakov, M., Fraser, P. & Keavney, B., 28 Jun 2018, In: Nature Communications.

Research output: Contribution to journal › Article › peer-review

Open Access

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2017

Homozygous Mutation in PTRH2 Gene Causes Progressive Sensorineural Deafness and Peripheral Neuropathy

Sharkia, R., Shalev, S. A., Zalan, A., Marom-David, M., Watemberg, N., Urquhart, J., Daly, S. B., Bhaskar, S. S., Williams, S., Newman, W., Spiegel, R., Azem, A., Elpeleg, O. & Mahajnah, M., Apr 2017, In: American Journal of Medical Genetics, Part A. 173, 4, p. 1051–1055

Research output: Contribution to journal › Article › peer-review

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Induced pluripotent stem cell modelling of HLHS underlines the contribution of dysfunctional NOTCH signalling to impaired cardiogenesis

Yang, C., Xu, Y., Yu, M., Lee, D., Alharti, S., Hellen, N., Ahmad Shaik, N., Banaganapalli, B., Sheikh, H. A. M., Ramu, E., Przyborski, S., Tenin, G., Williams, S., O'Sullivan, J., Al-Radi, O. O., Atta, J., Harding, S. E., Keavney, B., Lako, M. & Armstrong, L., 2017, In: Human Molecular Genetics.

Research output: Contribution to journal › Article › peer-review

Open Access

ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy

Böhm, J., Bulla, M., Urquhart, J. E., Malfatti, E., Williams, S., O'Sullivan, J., Szlauer, A., Koch, C., Baranello, G., Mora, M., Ripolone, M., Violano, R., Moggio, M., Kingston, H., Dawson, T., DeGoede, C. G., Nixon, J., Boland, A., Deleuze, J.-F. & Romero, N. & 3 others, Newman, W. G., Demaurex, N. & Laporte, J., 1 Apr 2017, In: Human Mutation. 38, 4

Research output: Contribution to journal › Article › peer-review

Open Access

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2016

Binding interface change and cryptic variation in the evolution of protein-protein interactions

Ames, R., Talavera, D., Williams, S., Robertson, D. & Lovell, S., 18 Feb 2016, In: B M C Evolutionary Biology. 16, 40

Research output: Contribution to journal › Article › peer-review

Open Access

DMRTA2 (DMRT5) is mutated in a novel cortical brain malformation

Urquhart, J. E., Beaman, G., Byers, H., Roberts, N. A., Chervinsky, E., O'Sullivan, J., Pilz, D., Fry, A., Williams, S. G., Bhaskar, S. S., Khayat, M., Simanovsky, N., Shachar, I. B., Shalev, S. A. & Newman, W. G., Jun 2016, In: Clinical Genetics. 89, 6, p. 724-7 4 p.

Research output: Contribution to journal › Article › peer-review

Expanding the Genotypic Spectrum of Perrault syndrome.

Demain, L., Urquhart, J., O'Sullivan, J., Williams, S., Jenkinson, E., Bhaskar, S. S., Lourenco, C. M., Heiberg, A., Pearce, S. H., Shalev, S. A., Yue, W. W., Mackinnon, S., Munro, K., Newbury-Ecob, R., Becker, K., Kim, M. J., O'Keefe, R. & Newman, W., 2016, In: Clinical Genetics.

Research output: Contribution to journal › Article › peer-review

Exploring the genetic basis of 3MC syndrome: Findings in 12 further families

Urquhart, J., Roberts, R., de Silva, D., Shalev, S., Chervinsky, E., Nampoothiri, S., Sznajer, Y., Revencu, N., Gunasekera, R., Suri, M., Ellingford, J., Williams, S., Bhaskar, S. & Clayton-Smith, J., 14 Apr 2016, In: American Journal of Medical Genetics. Part A. 170A, 5, p. 1216-1224 9 p.

Research output: Contribution to journal › Article › peer-review

Molecular findings from 537 individuals with inherited retinal disease

Ellingford, J., Barton, S., Bhaskar, S., O'Sullivan, J., Williams, S., Lamb, J., Panda, B., Sergouniotis, P., Gillespie, R., Daiger, S., Hall, G., Gale, T., Lloyd, C., Bishop, P., Ramsden, S. & Black, G., Nov 2016, In: Journal of Medical Genetics. 53, 11, p. 761-767 7 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

Jenkinson, E., Rodero, M. P., Kasher, P., Uggenti, C., Oojageer, A., Goosey, L., Rose, Y., Urquhart, J., Williams, S., Bhaskar, S. S., O'Sullivan, J., Baerlocher, G. M., Haubitz, M., Aubert, G., Barañano, K. W., Barnicoat, A. J., Battini, R., Berger, A., Blair, E. M. & Brunstrom-Hernandez, J. E. & 46 others, Buckard, J. A., Cassiman, D. M., Caumes, R., Cordelli, D. M., De Waele, L. M., Fay, A. J., Ferreira, P., Fletcher, N. A., Fryer, A. E., Goel, H., Hemingway, C. A., Henneke, M., Hughes, I., Jefferson, R. J., Kumar, R., Lagae, L., Landrieu, P. G., Lourenço, C. M., Malpas, T. J., Mehta, S. G., Metz, I., Naidu, S., Õunap, K., Panzer, A., Prabhakar, P., Quaghebeur, G., Schiffmann, R., Sherr, E. H., Sinnathuray, K. R., Soh, C., Stewart, H., Stone, J., Van Esch, H., Van Mol, C. E. G., Vanderver, A., Wakeling, E. L., Whitney, A., Pavitt, G., Griffiths-Jones, S., Rice, G., Revy, P., van der Knaap, M. S., Livingston, J. H., O'Keefe, R., Crow, Y. & Kershaw, C., 19 Sept 2016, In: Nature Genetics. 48, 10, p. 1185–1192 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

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Non lethal Raine syndrome and differential diagnosis

Elalaoui, S. C., Al-Sheqaih, N., Ratbi, I., Urquhart, J. E., O'Sullivan, J., Bhaskar, S., Williams, S., Elalloussi, M., Lyahyai, J., Sbihi, L., Cherkaoui Jaouad, I., Sbihi, A., Newman, W. G. & Sefiani, A., Nov 2016, In: European journal of medical genetics. 59, 11, p. 577-583 8 p.

Research output: Contribution to journal › Article › peer-review

Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes.

Bursztejn, A.-C., Briggs, T., Del Toro Duany, Y., Anderson, B., O'Sullivan, J., Williams, S., Bodemer, C., Fraitag, S., Gebhard, F., Leheup, B., Lemelle, I., Oojageer, A., Raffo, E., Schmitt, E., Rice, G. I., Hur, S. & Crow, Y., 28 Dec 2016, In: The British journal of dermatology. 173, 6, p. 1505–1513

Research output: Contribution to journal › Article › peer-review

Whole genome sequencing increases molecular diagnostic yield compared with current diagnostic testing for inherited retinal disease

Ellingford, J., Barton, S., Bhaskar, S., Williams, S., Sergouniotis, P., O'Sullivan, J., Lamb, J., Perveen, R., Hall, G., Newman, W., Bishop, P., Roberts, S., Leach, R., Tearle, R., Bayliss, S., Ramsden, S., Nemeth, A. H. & Black, G., 9 Feb 2016, In: Ophthalmology. 123, 5, p. 1143–1150

Research output: Contribution to journal › Article › peer-review

Open Access

2015

Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2.

Sergouniotis, P., Urquhart, J., Williams, S., Bhaskar, S. S., Black, G., Lovell, S., Whitby, D. J., Newman, W. G. & Clayton-Smith, J., 15 Jan 2015, In: Journal of Human Genetics. 60, 4

Research output: Contribution to journal › Article › peer-review

Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome.

Urquhart, J., Williams, S., Bhaskar, S. S., Bowers, N., Clayton-Smith, J. & Newman, W., 17 Sept 2015, In: Journal of Human Genetics. 60, p. 781–785

Research output: Contribution to journal › Article › peer-review

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.

Ratbi, I., Falkenberg, K. D., Sommen, M., Al-Sheqaih, N., Guaoua, S., Vandeweyer, G., Urquhart, J., Chandler, K. E., Williams, S., Roberts, N., El Alloussi, M., Black, G., Ferdinandusse, S., Ramdi, H., Heimler, A., Fryer, A., Lynch, S.-A., Cooper, N., Ong, K. R. & Smith, C. E. L. & 11 others, Inglehearn, C. F., Mighell, A. J., Elcock, C., Poulter, J. A., Tischkowitz, M., Davies, S. J., Sefiani, A., Mironov, A., Newman, W., Waterham, H. R. & Van Camp, G., 1 Oct 2015, In: American Journal of Human Genetics. 97, 4, p. 535-545 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

Smith, M., Isidor, B., Beetz, C., Williams, S., Bhaskar, S. S., Richer, W., O'Sullivan, J., Anderson, B., Daly, S., Urquhart, J., Fryer, A., Rustad, C. F., Mills, S. J., Samii, A., du Plessis, D., Halliday, D., Barbarot, S., Bourdeaut, F., Newman, W. & Evans, G., 13 Jan 2015, In: Neurology. 84, 2, p. 141-147 6 p.

Research output: Contribution to journal › Article › peer-review

Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract.

Gillespie, R., Urquhart, J., Anderson, B., Williams, S., Waller, S., Ashworth, J., Biswas, S., Jones, S., Stewart, F., Lloyd, C., Clayton-Smith, J. & Black, G., 29 Jul 2015, In: Ophthalmology. 123, 1, p. 217–220

Research output: Contribution to journal › Article › peer-review

Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome.

Ellingford, J., Sergouniotis, P., Lennon, R., Bhaskar, S., Williams, S., Hillman, K. A., O'Sullivan, J., Hall, G., Ramsden, S., Lloyd, C., Woolf, A. & Black, G., 9 May 2015, In: The Lancet. 385, 9980, p. 1916-1917 1 p.

Research output: Contribution to journal › Article › peer-review

2014

Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome.

Wieczorek, D., Newman, W., Wieland, T., Berulava, T., Kaffe, M., Falkenstein, D., Beetz, C., Graf, E., Schwarzmayr, T., Douzgou, S., Clayton-Smith, J., Daly, S., Williams, S., Bhaskar, S. S., Urquhart, J., Anderson, B., O'Sullivan, J., Boute, O., Gundlach, J. & Czeschik, J. C. & 22 others, van Essen, A. J., Hazan, F., Park, S., Hing, A., Kuechler, A., Lohmann, D. R., Ludwig, K. U., Mangold, E., Steenpaß, L., Zeschnigk, M., Lemke, J. R., Lourenco, C. M., Hehr, U., Prott, E.-C., Waldenberger, M., Böhmer, A. C., Horsthemke, B., O'Keefe, R., Meitinger, T., Burn, J., Lüdecke, H.-J. & Strom, T. M., 25 Nov 2014, In: American Journal of Human Genetics. 95, 6

Research output: Contribution to journal › Article › peer-review

Open Access

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.

Rice, G., del Toro Duany, Y., Jenkinson, E., Forte, G., Anderson, B., Ariaudo, G., Bader-Meunier, B., Baildam, E. M., Battini, R., Beresford, M. W., Casarano, M., Chouchane, M., Cimaz, R., Collins, A. E., Cordeiro, N. J. V., Dale, R. C., Davidson, J. E., De Waele, L., Desguerre, I. & Faivre, L. & 33 others, Fazzi, E., Isidor, B., Lagae, L., Latchman, A. R., Lebon, P., Li, C., Livingston, J. H., Lourenço, C. M., Mancardi, M. M., Masurel-Paulet, A., McInnes, I. B., Menezes, M. P., Mignot, C., O'Sullivan, J., Orcesi, S., Picco, P. P., Riva, E., Robinson, R. A., Rodriguez, D., Salvatici, E., Scott, C., Szybowska, M., Tolmie, J. L., Vanderver, A., Vanhulle, C., Vieira, J. P., Webb, K., Whitney, R. N., Williams, S., Wolfe, L. A., Zuberi, S. M., Hur, S. & Crow, Y., May 2014, In: Nature Genetics. 46, 5, p. 503-509 6 p.

Research output: Contribution to journal › Article › peer-review

2012

Evolvability of yeast protein-protein interaction interfaces

Talavera, D., Williams, S., Norris, M. G. S., Robertson, D. & Lovell, S., 22 Jun 2012, In: Journal of molecular biology. 419, 5, p. 387-396 9 p.

Research output: Contribution to journal › Article › peer-review

2011

Using knowledge of protein structural constraints to predict the evolution of HIV-1

Williams, S., Madan, R., Norris, M. G. S., Archer, J., Mizuguchi, K., Robertson, D. & Lovell, S., 29 Jul 2011, In: Journal of molecular biology. 410, 5, p. 1023-1034 12 p.

Research output: Contribution to journal › Article › peer-review

Open Access

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2009

The effect of sequence evolution on protein structural divergence

Williams, S. & Lovell, S., May 2009, In: Molecular Biology and Evolution. 26, 5, p. 1055-1065 10 p.

Research output: Contribution to journal › Article › peer-review

Simon Williams, BSc, MSc, PhD

Research output

Search results