S. Williams

发表

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

Ryan M. Ames, S. Lovell, D. Robertson, 2016, BMC Evolutionary Biology.

Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy

W. Newman, S. Bhaskar, A. Azem, 2017, American journal of medical genetics. Part A.

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

C. Wallace, P. Freire-Pritchett, P. Fraser, 2018, Nature Communications.

Evolvability of yeast protein-protein interaction interfaces.

S. Lovell, D. Robertson, David Talavera, 2012, Journal of molecular biology.

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

D. Evans, A. Samii, D. Halliday, 2015, Neurology.

The Prevalence of High Grade Cervical Intraepithelial Neoplasia (CIN) in a Primary Human Papillomavirus (HPV) Cervical Screening Programme Population with HPV Positive and Cytology Negative Smear Results

A. Anwar, S. Williams, S. G. Wijesiri, 2020 .

ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy

W. Newman, E. Malfatti, N. Romero, 2017, Human mutation.

Cystic fibrosis related chronic liver disease: a study of its influence upon prognosis and possible mechanisms for this; with specific reference to pulmonary and systemic haemodynamics

S. Williams, 1995 .

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

B. Keavney, David Talavera, S. Williams, 2022, Journal of Human Genetics.

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

Rachel L. Taylor, I. C. Lloyd, G. Hall, 2022, Orphanet Journal of Rare Diseases.

Personalized diagnosis and management of congenital cataract by next-generation sequencing.

I. C. Lloyd, J. Clayton-Smith, S. Bhaskar, 2014, Ophthalmology.

Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis

W. Newman, S. Bhaskar, S. Banka, 2014, Molecular Syndromology.

Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome

J. Clayton-Smith, W. Newman, S. Bhaskar, 2015, Journal of Human Genetics.

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

S. Ferdinandusse, H. Waterham, W. Newman, 2015, American journal of human genetics.

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

Kathryn E. Hentges, Matthieu J. Miossec, G. Lathrop, 2019, Circulation research.

Deleterious genetic variants in NOTCH1 are a major contributor to the incidence of non-syndromic Tetralogy of Fallot

Kathryn E. Hentges, Matthieu J. Miossec, G. Bourque, 2018, bioRxiv.

Expanding the genotypic spectrum of Perrault syndrome

S. Bhaskar, W. Yue, R. Newbury-Ecob, 2017, Clinical genetics.

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

K. Mizuguchi, S. Lovell, J. Archer, 2011, Journal of molecular biology.

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

Kathryn E. Hentges, B. Keavney, K. Hentges, 2019, Circulation. Genomic and precision medicine.

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

L. Lagae, A. Vanderver, J. Tolmie, 2014, Nature Genetics.

Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations.

D. Evans, W. Newman, S. Bhaskar, 2014, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.

M. Waldenberger, T. Wieland, T. Meitinger, 2014, American journal of human genetics.

Heritability and family-based GWAS analyses of the N-acyl ethanolamine and ceramide lipidome reveal genetic influence over circulating lipids

M. Farrall, H. Cordell, H. Watkins, 2019, bioRxiv.

Heritability and family-based GWAS analyses of the N-acyl ethanolamine and ceramide lipidome reveal genetic influence over circulating lipids

M. Farrall, H. Cordell, H. Watkins, 2019, bioRxiv.

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

I. C. Lloyd, J. Clayton-Smith, S. Williams, 2016, Ophthalmology.

Molecular findings from 537 individuals with inherited retinal disease

I. C. Lloyd, J. Lamb, S. Daiger, 2016, Journal of Medical Genetics.

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease

Rick Tearle, Georgina Hall, Simon C Ramsden, 2016, Ophthalmology.

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

B. Keavney, M. Choy, S. Williams, 2021, Scientific Reports.

Does treatment with ACE inhibitors or angiotensin II receptor antagonists prevent atrial fibrillation after dual chamber pacemaker implantation?

S. Williams, K. Albouaini, D. Todd, 2005, Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology.

Large-scale examination of neuropsychiatric, cognitive and cardiovascular phenotypic associations with 15q11.2 BP1-BP2 deletion in ∼500,000 UK Biobank individuals

J. Priest, B. Keavney, Priyanka Saha, 2019, bioRxiv.

Helicobacter pylori: antibiotic resistance and eradication rates in Suffolk, UK, 1991-2001.

S. Williams, E. Cameron, G. Bell, 2004, Journal of medical microbiology.

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

W. Newman, S. Bhaskar, A. Fry, 2016, Clinical genetics.

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

H. Mefford, I. Thiffault, T. Pastinen, 2021, Genetics in Medicine.

The effect of sequence evolution on protein structural divergence.

Simon C Lovell, S. Lovell, S. Williams, 2009, Molecular biology and evolution.

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

L. Lagae, A. Vanderver, R. Schiffmann, 2016, Nature Genetics.

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

S. Scherer, C. Marshall, A. Bassett, 2021, Circulation. Genomic and precision medicine.

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

Min Yu, Babajan Banaganapalli, Bernard Keavney, 2017, Human molecular genetics.

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

S. Scherer, C. Marshall, A. Bassett, 2021, medRxiv.

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

Robert W. Taylor, I. Hochberg, W. Newman, 2021, American journal of human genetics.

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

J. Clayton-Smith, S. Lovell, W. Newman, 2015, Journal of Human Genetics.

A homozygous variant in mitochondrial RNase P subunit PRORP is associated with Perrault syndrome characterized by hearing loss and primary ovarian insufficiency

Robert W. Taylor, I. Hochberg, W. Newman, 2017, bioRxiv.

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

Kathryn E. Hentges, J. Priest, B. Keavney, 2020, European Journal of Human Genetics.

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

I. C. Lloyd, S. Bhaskar, G. Hall, 2015, The Lancet.