William Newman

Publications

• Expanding the genotypic spectrum of TXNL4A variants in Burn‐McKeown syndrome
• A blockchain-based framework to support pharmacogenetic data sharing
• Using a biomarker acutely to identify babies at risk of serious adverse effects from antibiotics: where is the ‘Terrible Moral and Medical Dilemma’?
• Nonstop mRNAs generate a ground state of mitochondrial gene expression noise
• Integrating polygenic risk scores in the prediction of type 2 diabetes risk and subtypes in British Pakistanis and Bangladeshis: A population-based cohort study
• Extended gene panel testing in lobular breast cancer.
• High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.
• Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders.
• Genomic and healthcare dynamics of nosocomial SARS-CoV-2 transmission.
• The Role of the U5 snRNP in Genetic Disorders and Cancer.
• A Nonadaptive Combinatorial Group Testing Strategy to Facilitate Health Care Worker Screening during the Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) Outbreak.
• Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine.
• Breast Cancer Risk Factors and Survival by Tumor Subtype: Pooled Analyses from the Breast Cancer Association Consortium.
• CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers.
• Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.
• Combined Associations of a Polygenic Risk Score and Classical Risk Factors With Breast Cancer Risk.
• Homozygous missense variants in BMPR15 can result in primary ovarian insufficiency
• A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy
• Characterizing pharmacogenetic programs using the consolidated framework for implementation research: A structured scoping review
• MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease
• Pharmacogenomic testing to support prescribing in primary care: a structured review of implementation models
• New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder
• Clinically diverse and perinatally lethal syndromes with urorectal septum malformation sequence
• Mendelian randomisation study of smoking exposure in relation to breast cancer risk
• The rise of point-of-care genetics
• Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations
• Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman disease
• Pathogenic intronic splice-affecting variants in MYBPC3 in three patients with hypertrophic cardiomyopathy
• Biallelic loss of function variants in STAG3 result in primary ovarian insufficiency
• The Pharmacogenetics to Avoid Loss of Hearing (PALOH) Trial: A Protocol for a Prospective Observational Implementation Trial
• The genomic architecture of bladder exstrophy epispadias complex
• Clinical Pharmacogenetics Implementation Consortium Guideline for the Use of Aminoglycosides Based on MT-RNR1 Genotype
• 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report
• Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci
• Characterization of the mechanism by which a nonsense variant in RYR2 leads to disordered calcium handling
• The role of the European Society of Human Genetics in delivering genomic education
• Dominant-negative pathogenic variant BRIP1 c.1045G>C is a high-risk allele for non-mucinous epithelial ovarian cancer: a case-control study
• Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes
• Gene Panel Testing for Breast Cancer Reveals Differential Effect of Prior BRCA1/2 Probability
• The importance of Ethnicity: are breast cancer Polygenic Risk Scores ready for women who are not of white European origin?
• Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment
• Quantifying the Impact of Capacity Constraints in Economic Evaluations: An Application in Precision Medicine
• Rapid Point-of-Care Genotyping to Avoid Aminoglycoside-Induced Ototoxicity in Neonatal Intensive Care
• Incorporating progesterone receptor expression into the PREDICT breast prognostic model
• Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome
• Differential involvement of germline pathogenic variants in breast cancer genes between DCIS and low-grade invasive cancers
• Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX with Its Interacting Nucleoid Proteins, and of mtDNA
• MRSD: a novel quantitative approach for assessing suitability of RNA-seq in the clinical investigation of mis-splicing in Mendelian disease
• Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome
• Harnessing the power of polygenic risk scores to predict type 2 diabetes and its subtypes in a high-risk population of British Pakistanis and Bangladeshis in a routine healthcare setting
• Classification and correlation of RYR2 missense variants in individuals with catecholaminergic polymorphic ventricular tachycardia reveals phenotypic relationships
• 22q11.2 duplications in a UK cohort with bladder exstrophy-epispadias complex.
• Whole genome sequencing enables definitive diagnosis of Cystic Fibrosis and Primary Ciliary Dyskinesia
• Genetic testing in the acute setting: a round table discussion
• A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population
• Accounting for Capacity Constraints in Economic Evaluations of Precision Medicine: A Systematic Review
• EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion‐Almeida type
• A Non-Adaptive Combinatorial Group Testing Strategy to Facilitate Healthcare Worker Screening During the Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) Outbreak
• Pharmacogenomics in the UK National Health Service: opportunities and challenges.
• Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk.
• SLC20A1 Is Involved in Urinary Tract and Urorectal Development.
• Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells.
• Whole-genome sequencing of patients with rare diseases in a national health system.
• Irbesartan in Marfan syndrome (AIMS): a double-blind, placebo-controlled randomised trial.
• Refractory very early-onset inflammatory bowel disease associated with cytosolic isoleucyl-tRNA synthetase deficiency: A case report.
• Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease.
• Risk of Contralateral Breast Cancer in Women with and without Pathogenic Variants in BRCA1, BRCA2, and TP53 Genes in Women with Very Early-Onset (<36 Years) Breast Cancer.
• Genetic polymorphism in C3 is associated with progression in chronic kidney disease (CKD) patients with IgA nephropathy but not in other causes of CKD.
• A network analysis to identify mediators of germline-driven differences in breast cancer prognosis.
• Mosaic Fabry Disease in a Male Presenting as Hypertrophic Cardiomyopathy
• Refusal of viral testing during the SARS-CoV-2 pandemic
• Urofacial Syndrome.
• Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations
• Assessment of interactions between 205 breast cancer susceptibility loci and 13 established risk factors in relation to breast cancer risk, in the Breast Cancer Association Consortium.
• Common breast cancer risk loci predispose to distinct tumor subtypes
• Germline selection shapes human mitochondrial DNA diversity.
• Loss-of-function variants in myocardin cause congenital megabladder in humans and mice.
• Functional and in-silico interrogation of rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders
• Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses
• Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data.
• Two truncating variants in FANCC and breast cancer risk.
• A homozygous missense variant in CHRM3 associated with familial urinary bladder disease.
• Disease modelling of core pre-mRNA splicing factor haploinsufficiency.
• A case-control evaluation of 143 single nucleotide polymorphisms for breast cancer risk stratification with classical factors and mammographic density.
• Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis.
• Clinical and genetic heterogeneity in Melkersson-Rosenthal Syndrome.
• A Dominantly Inherited 5' UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer.
• IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes.
• Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction.
• Breast cancer pathology and stage are better predicted by risk stratification models that include mammographic density and common genetic variants.
• Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder.
• Genome-wide association study of germline variants and breast cancer-specific mortality.
• Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.
• Diagnosing and Preventing Hearing Loss in the Genomic Age.
• Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes.
• A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault-like syndrome with renal defects.
• Structural insight into the human mitochondrial tRNA purine N1-methyltransferase and ribonuclease P complexes.
• Deleterious genetic variants in NOTCH1 are a major contributor to the incidence of non-syndromic Tetralogy of Fallot
• Use of Single-Nucleotide Polymorphisms and Mammographic Density Plus Classic Risk Factors for Breast Cancer Risk Prediction.
• A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families
• Maternal mosaicism for IDUA deletion clarifies recurrence risk in MPS I.
• Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.
• Expanding the Genotypic Spectrum of Perrault syndrome.
• Non lethal Raine syndrome and differential diagnosis.
• Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome.
• Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene.
• A synonymous variant in TREX1 is associated with systemic sclerosis and severe digital ischaemia.
• A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis.
• ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.
• Maternal mosaicism for IDUA deletion clarifies recurrence risk in MPS I.
• Impact of a panel of 88 single nucleotide polymorphisms on the risk of breast cancer in high-risk women
• Using human induced pluripotent stem cells to model a novel nonsense mutation of RYR2 and identify potential new therapeutic agents for patients with CPVT
• The characterisation of a novel nonsense mutation in RYR2 using human induced pluripotent stem cells.
• Using human induced pluripotent stem cells to model a novel nonsense mutation of RYR2 and identify potential therapeutic agents for patients with CPVT
• Response to: ‘Mutation in MMP2 gene may result in scleroderma-like skin thickening’ by Bader-Meunieret al
• The impact of a panel of 18 SNPs on breast cancer risk in women attending a UK familial screening clinic: a case-control study.
• Relationship of ZNF423 and CTSO with breast cancer risk in two randomised tamoxifen prevention trials.
• Impact of a Panel of 88 Single Nucleotide Polymorphisms on the Risk of Breast Cancer in High-Risk Women: Results From Two Randomized Tamoxifen Prevention Trials.
• Genetics of mitochondrial dysfunction and infertility.
• Erratum: A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis.
• DMRTA2 (DMRT5) is mutated in a novel cortical brain malformation.
• The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes.
• Association of a promoter polymorphism in FSHR with ovarian reserve and response to ovarian stimulation in women undergoing assisted reproductive treatment.
• Spectrum of PEX1 and PEX6 variants in Heimler syndrome.
• Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing.
• AMH type II receptor and AMH gene polymorphisms are not associated with ovarian reserve, response, or outcomes in ovarian stimulation.
• Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.
• Endogenous Candida endophthalmitis and osteomyelitis associated with CARD9 deficiency.
• Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
• Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study.
• Response to: 'Mutation in MMP2 gene may result in scleroderma-like skin thickening' by Bader-Meunier et al.
• Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome.
• Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.
• Identification of Patients With Variants in TPMT and Dose Reduction Reduces Hematologic Events During Thiopurine Treatment of Inflammatory Bowel Disease.
• Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.
• Severe intellectual disability in a patient with Burn-McKeown syndrome.
• ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development.
• Understanding barriers to the introduction of precision medicines in non-small cell lung cancer: A qualitative interview protocol.
• Inherited BRCA1 epimutation as a novel cause of breast and ovarian cancer
• A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.
• NOX1 loss-of-function genetic variants in patients with inflammatory bowel disease.
• Marfanoid habitus is a nonspecific feature of Perrault syndrome.
• First evidence of genotype-phenotype correlations in Gorlin syndrome.
• A homozygous variant in mitochondrial RNase P subunit PRORP is associated with Perrault syndrome characterized by hearing loss and primary ovarian insufficiency
• Validation of copy number variation analysis for next-generation sequencing diagnostics.
• Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy.
• Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.
• Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7.
• Chronic kidney disease in a boy with enuresis
• The characterisation of a novel nonsense mutation in RYR2 using human induced pluripotent stem cells
• Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome
• Urofacial syndrome: A genetic and congenital disease of aberrant urinary bladder innervation
• Germline SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomas
• Intronic splicing mutations in PTCH1 cause Gorlin syndrome
• Heparanase 2, Mutated in urofacial syndrome, Mediates peripheral neural development in Xenopus
• Deep Resequencing of GWAS Loci Identifies Rare Variants in CARD9, IL23R and RNF186 That Are Associated with Ulcerative Colitis
• Are health technology assessments of pharmacogenetic tests feasible? A case study of CYP2D6 testing in the treatment of breast cancer with tamoxifen
• A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations
• Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.
• Identification of a novel familial FGF16 mutation in two cases of MF4.
• High-density mapping of the MHC identifies a shared role for HLA-DRB1*01:03 in inflammatory bowel diseases and heterozygous advantage in ulcerative colitis.
• Pooled sequencing of 531 genes in inflammatory bowel disease identifies an associated rare variant in BTNL2 and implicates other immune related genes.
• Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer
• Estimation and partitioning of (co)heritability of inflammatory bowel disease from GWAS and immunochip data
• Effective cascade screening through identification of a mutation in RYR2 in a large family with a history of sudden death.
• CYP2D6 Genotype and Adjuvant Tamoxifen: Meta-Analysis of Heterogeneous Study Populations
• The genetic basis of DOORS syndrome: An exome-sequencing study
• Exome sequencing identifies a dominant tnnt3 mutation in a large family with distal arthrogryposis
• Identification of a novel familial FGF16 mutation in metacarpal 4-5 fusion
• Diagnosis of rare inherited diseases
• Delivery of a clinical genomics service
• Genetics of human congenital urinary bladder disease
• Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis
• The cost-effectiveness of a pharmacogenetic test: A trial-based evaluation of TPMT genotyping for azathioprine
• DOORS syndrome: Phenotype, genotype and comparison with coffin-siris syndrome
• Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis
• A prospective, randomized, placebo-controlled, double-blind, multicenter study of the effects of irbesartan on aortic dilatation in Marfan syndrome (AIMS trial): Study protocol
• A common Asn680Ser polymorphism in the follicle-stimulating hormone receptor gene is not associated with ovarian response to gonadotropin stimulation in patients undergoing in vitro fertilization
• Advantages of a subcutaneous implantable cardioverter-defibrillator in LAMP2 hypertrophic cardiomyopathy
• Can manipulation of splicing offer gene therapy possibilities to those with tumour-prone disorders?
• Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.
• Foramen ovale closure is a process of endothelial-to-mesenchymal transition leading to fibrosis.
• RAS testing of colorectal carcinoma—a guidance document from the Association of Clinical Pathologists Molecular Pathology and Diagnostics Group.
• Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.
• Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.
• Identification of a mutation in the ubiquitin-fold modifier 1-specific peptidase 2 gene, UFSP2, in an extended South African family with Beukes hip dysplasia.
• SMARCE1 mutations in pediatric clear cell meningioma: case report.
• The BRCA2 polymorphic stop codon: stuff or nonsense?
• Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases.
• Diagnostic Mutation Profiling and Validation of Non-Small-Cell Lung Cancer Small Biopsy Samples using a High Throughput Platform.
• Exome sequencing identifies ATP4A gene as responsible of an atypical familial type I gastric neuroendocrine tumour.
• Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2.
• Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations.
• Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.
• A single nucleotide polymorphism of bone morphogenic protein-15 is not associated with ovarian reserve or response to ovarian stimulation.
• Urinary tract effects of HPSE2 mutations.
• The impact of different DNA extraction kits and laboratories upon the assessment of human gut microbiota composition by 16S rRNA gene sequencing.
• Human SNP links differential outcomes in inflammatory and infectious disease to a FOXO3-regulated pathway.
• Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.
• Is multiple SNP testing in BRCA2 and BRCA1 female carriers ready for use in clinical practice? Results from a large Genetic Centre in the UK.
• Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas
• Allele and genotype frequencies of the polymorphic cytochrome P450 genes (CYP1A1, CYP3A4, CYP3A5, CYP2C9 and CYP2C19) in the Jordanian population
• Delivering a pharmacogenetic service: Is there a role for genetic counselors?
• A role for genetic counsellors and clinical geneticists in pharmacogenetics?
• Assessing individual breast cancer risk within the U.K. National Health Service Breast Screening Program: A new paradigm for cancer prevention
• Lack of caveolin-1 (P132L) somatic mutations in breast cancer
• The clinical management of relatives of young sudden unexplained death victims; implantable defibrillators are rarely indicated
• EGFR and KRAS mutational analysis and their correlation to survival in pancreatic and periampullary cancer
• Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: Novel genotypes and phenotypic variability in severe congenital neutropenia
• Fine-mapping CASP8 risk variants in breast cancer
• Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3
• Muscarinic acetylcholine receptor m3 mutation causes urinary bladder disease and a prune-belly-like syndrome
• A pragmatic randomized controlled trial of thiopurine methyltransferase genotyping prior to azathioprine treatment: The TARGET study
• Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47
• Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3
• Pharmacogenetics: Transforming clinical medicine
• Congenital trigeminal anaesthesia: a rare preventable cause of visual loss in children.
• FSH receptor genotype does not predict metaphase-II oocyte output or fertilization rates in ICSI patients
• A delayed presentation of congenital glaucoma
• Increased rate of phenocopies in all age groups in BRCA1/BRCA2 mutation kindred, but increased prospective breast cancer risk is confined to BRCA2 mutation carriers
• Spontaneous ovarian hyperstimulation syndrome: Case report, pathophysiological classification and diagnostic algorithm
• Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease
• LRIG2 mutations cause urofacial syndrome
• Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations
• G6PC3 mutations cause non-syndromic severe congenital neutropenia
• Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease
• Epidermal growth factor receptor in pancreatic cancer
• Management of craniopharyngioma: the liverpool experience following the introduction of the CCLG guidelines. introducing a new risk assessment grading system
• High sensitivity for BRCA1/2 mutations in breast/ovarian kindreds: Are there still other breast/ovary genes to be discovered?
• Breast cancer pharmacogenomics: Where we are going
• Erratum: Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47 (Nature Genetics (2011) 43 (246-252))
• Polymorphisms of CYP19A1 and response to aromatase inhibitors in metastatic breast cancer patients
• Developing national guidance on genetic testing for breast cancer predisposition: The role of economic evidence?
• PCOS and peripheral AMH levels in relation to FSH receptor gene single nucleotide polymorphisms
• Perrault syndrome: Further evidence for genetic heterogeneity
• Review of biomarkers in colorectal cancer
• Prevention of breast cancer in the context of a national breast screening programme
• Pharmacogenetics of aromatase inhibitors
• Follicle-stimulating hormone receptor gene polymorphisms are not associated with ovarian reserve markers
• Exacerbation of hereditary warfarin resistance by azathioprine
• Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency
• Natural history of azathioprine-associated lymphopenia in inflammatory bowel disease patients: A prospective observational study
• Comprehensive CYP2D6 genotype and adherence affect outcome in breast cancer patients treated with tamoxifen monotherapy
• Bayesian refinement of association signals for 14 loci in 3 common diseases.
• Seven newly identified loci for autoimmune thyroid disease.
• Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry.
• Novel loci associated with increased risk of sudden cardiac death in the context of coronary artery disease.
• Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.
• Polymorphisms of the aromatase gene (CYP19A1) and benefit of aromatase inhibitors (AIs) in metastatic breast cancer (mBC) patients.
• Proteins encoded in genomic regions associated with immune-mediated disease physically interact and suggest underlying biology.
• Pharmacogenetics and pharmacogenomics: A clinical reality
• Valuing pharmacogenetic testing services: A comparison of patients' and health care professionals' preferences
• Principles of cancer treatment
• Breast cancer susceptibility variants alter risk in familial ovarian cancer
• Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci
• Genetic analysis of thiopurine methyltransferase polymorphism in the Jordanian population
• Novel corticosteroid-binding globulin variant that lacks steroid binding activity
• Mutations in the G6PC3 gene cause Dursun syndrome
• Expanding the clinical spectrum of SLC29A3 gene defects
• Erratum: Mutations in HPSE2 cause urofacial syndrome (American Journal of Human Genetics (2010) 86 (963-969))
• Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
• Are patients with intermediate TPMT activity at increased risk of myelosuppression when taking thiopurine medications?
• Breast cancer susceptibility variants alter risks in familial disease
• Pharmacogenetic testing in the United Kingdom genetics and immunogenetics laboratories
• Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region
• Iron overload in the Asian community
• TPMT testing in azathioprine: A 'cost-effective use of healthcare resources'?
• UGT1A1*28 genotype predicts gastrointestinal toxicity in patients treated with intermediate-dose Irinotecan
• The SPINK1 N34S variant is associated with acute pancreatitis
• Improving pharmacovigilance in Europe: TPMT genotyping and phenotyping in the UK and Spain
• Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24
• Erratum: Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis (Journal of Medical Genetics (2008) vol. 45 (332-339))
• Chiari I malformation without hydrocephalus: Acute intracranial hypertension managed with endoscopic third ventriculostomy (ETV)
• Gender-stratified analysis of DLG5 R30Q in 4707 patients with Crohn disease and 4973 controls from 12 Caucasian cohorts
• The clinical effectiveness and costeffectiveness of genotyping for CYP2D6 for the management of women with breast cancer treated with tamoxifen: A systematic review
• RASSF1A polymorphism in familial breast cancer
• Pernicious anemia - Genetic insights
• The MDM2 Promoter SNP285C/309G Haplotype Diminishes Sp1 Transcription Factor Binding and Reduces Risk for Breast and Ovarian Cancer in Caucasians
• Current status and future potential of somatic mutation testing from circulating free DNA in patients with solid tumours
• Variability of bone marrow morphology in G6PC3 mutations: Is there a genotype-phenotype correlation or age-dependent relationship?
• Principles of genetics and pharmacogenetics
• Introduction
• Reply: Guesstimates are not good enough for determining what is happening in routine care
• Future advances in cancer pharmacogenomics
• Genetic variants in IL-23R and ATG16L1 independently predispose to increased susceptibility to Crohn's disease in a Canadian population
• CTLA4/ICOS gene variants and haplotypes are associated with rheumatoid arthritis and primary biliary cirrhosis in the Canadian population
• Rates of loss of heterozygosity and mitotic recombination in NF2 schwannomas, sporadic vestibular schwannomas and schwannomatosis schwannomas
• Avoidance of CYP2D6 inhibitors in patients receiving tamoxifen
• Replication and meta-analysis of 13,000 cases defines the risk for interleukin-23 receptor and autophagy-related 16-like 1 variants in Crohn's disease
• SMARCB1 mutations are not a common cause of multiple meningiomas
• Understanding chemotherapy treatment pathways of advanced colorectal cancer patients to inform an economic evaluation in the United Kingdom
• Mutations in HPSE2 Cause Urofacial Syndrome
• Genetics of patent foramen ovale-NKX2-5 and beyond
• Isolated unilateral vestibular schwannomas do not harbor HRAS mutations
• The impact of CYP2D6 genotyping on tamoxifen treatment
• Early diagnosis and treatment of cobalamin deficiency of infancy owing to occult maternal pernicious anemia
• Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin
• Impaired tamoxifen metabolism reduces survival in familial breast cancer patients
• The Impact of CYP2D6 Genotyping on Tamoxifen Treatment.
• CYP2D6 genotype affects outcome in postmenopausal breast cancer patients treated with tamoxifen monotherapy.
• Pharmacogenetics education in British medical schools
• Re: Pharmacogenomic variation of CYP2D6 and the choice of optimal adjuvant endocrine therapy for postmenopausal breast cancer: A modeling analysis
• Removing barriers to a clinical pharmacogenetics service
• Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis
• Relief of severe retro-orbital pain and vision improvement after optic-nerve decompression in polyostotic fibrous dysplasia: Case report and review of the literature
• Inflammatory bowel disease in the South Asian population of northwest England [3]
• Patients' and healthcare professionals' views on pharmacogenetic testing and its future delivery in the NHS
• A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25-q26
• Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutières syndrome
• Current use of pharmacogenetic testing: A national survey of thiopurine methyltransferase testing prior to azathioprine prescription
• Quantitative analysis of plasma DNA in severe acute pancreatitis
• DLG5 variants contribute to Crohn disease risk in a Canadian population
• Evidence for common genetic control in pathways of inflammation for Crohn's disease and psoriatic arthritis
• COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia
• W4R variant in CSRP3 encoding muscle LIM protein in a patient with hypertrophic cardiomyopathy [1]
• CD2BP1 and CARD15 mutations are not associated with pyoderma gangrenosum in patients with inflammatory bowel disease [2]
• CARD15 and HLA DRB1 Alleles Influence Susceptibility and Disease Localization in Crohn's Disease
• Inflammatory bowel disease: Crohn's disease and the success of NODern genetics
• Skeletal dysplasias caused by a disruption of skeletal patterning and endochondral ossification
• NOD2/CARD15 gene mutation is not associated with susceptibility to Wegener's granulomatosis
• The mutational spectrum of brachydactyly type C
• Is osteoarthritis a genetic disease?
• Coordinated expression of matrix Gla protein is required during endochondral ossification for chondrocyte survival
• Matrix Gla protein is differentially expressed during the deposition of a calcified matrix by vascular pericytes
• Molecular diagnosis is important to confirm suspected pseudoachondroplasia
• Molecular analysis of SALL1 mutations in Townes-Brocks syndrome
• Proximal myotonic myopathy (PROMM) presenting as myotonia during pregnancy
• Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation
• Research Governance: What is reasonable protection?
• Microfluidic platform for single nucleotide polymorphism genotyping of the thiopurine s-methyltranferase gene to evaluate risk for adverse drug events
• Recent advances in the genetics of inflammatory bowel disease
• Array comparative genomic hybridization for diagnosis of developmental delay - An exploratory cost-consequences analysis
• Identifying causal genetic factors
• Recent advances in the genetics of susceptibility to and treatment of breast cancer
• Eisenmenger syndrome and atrial septal defect: Nature or nurture?
• Pharmacogenetics in the management of breast cancer - Prospects for individualised treatment
• TPMT testing in rheumatology: Any better than routine monitoring?
• Association of the lymphoid tyrosine phosphatase R620W variant with rheumatoid arthritis, but not Crohn's disease, in Canadian populations
• A risk haplotype in the Solute Carrier Family 22A4/22A5 gene cluster influences phenotypic expression of Crohn's disease
• SLC22A4 polymorphisms implicated in rheumatoid arthritis and Crohn's disease are not associated with rheumatoid arthritis in a Canadian Caucasian population
• Rheumatoid arthritis association with the FCRL3 -169C polymorphism is restricted to PTPN22 1858T-homozygous individuals in a Canadian population
• Functional variants of OCTN cation transporter genes are associated with Crohn disease
• Toriello-Carey Syndrome: Delineation and Review
• Annexin VIII is differentially expressed by chondrocytes in the mammalian growth plate during endochondral ossification and in osteoarthritic cartilage
• Townes-Brocks syndrome presenting as end stage renal failure
• Perrault Syndrome
• Urofacial Syndrome
• Genetic dissection of inflammatory bowel disease: unravelling etiology and improving diagnostics.
• Breast cancer risks associated with missense variants in breast cancer susceptibility genes
• FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women
• Detection of pathogenic variants in breast cancer susceptibility genes in bilateral breast cancer
• Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry
• Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54
• Pharmacogenetics clinical decision support tools for primary care in England: a co-design study (Preprint)
• Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases
• Human HPSE2 gene transfer ameliorates bladder pathophysiology in a mutant mouse model of urofacial syndrome.
• Assessment highlights need for improvement in standards of development for rare genetic diseases core outcome sets
• Human HPSE2gene transfer ameliorates bladder pathophysiology in a mutant mouse model of urofacial syndrome
• Assessment highlights need for improvement in standards of development of core outcome sets for rare genetic diseases
• HumanHPSE2gene transfer ameliorates bladder pathophysiology in a mutant mouse model of urofacial syndrome
• Development of a point-of-care genetic test for effective treatment of ischaemic stroke: an early model-based cost-effectiveness analysis [version 1; peer review: 1 approved, 2 approved with reservations]
• Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases
• Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases
• Population based germline testing of BRCA1, BRCA2 and PALB2 in breast cancer patients in the UK
• Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype
• Human HPSE2 gene transfer ameliorates bladder pathophysiology in a mutant mouse model of urofacial syndrome
• Human HPSE2 gene transfer ameliorates bladder pathophysiology in a mutant mouse model of urofacial syndrome
• Influence of autozygosity on common disease risk across the phenotypic spectrum
• Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases
• P13.087.A Germline intergenic duplications at Xq26.1 cause an inherited basal cell carcinoma susceptibility syndrome
• Perceived risk of type 2 diabetes: Using linked genomic, clinical and questionnaire data to understand the potential use of genetic risk tools in British South Asians
• Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome
• Prospective Evaluation of a Breast Cancer Risk Model Integrating Classical Risk Factors and Polygenic Risk in 15 Cohorts from Six Countries
• P10.016.D Biallelic variants in RCC1 result in fever associated axonal neuropathy with encephalopathy