List of works by William G. Newman

22q11.2 duplications in a UK cohort with bladder exstrophy-epispadias complex

scientific article published on 09 January 2019

A DELAYED PRESENTATION OF CONGENITAL GLAUCOMA

article

A Dominantly Inherited 5' UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer

scientific article published on 01 August 2018

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations

scientific article

A blockchain-based framework to support pharmacogenetic data sharing

scientific article published in 2022

A case-control evaluation of 143 single nucleotide polymorphisms for breast cancer risk stratification with classical factors and mammographic density

scientific article published on 13 July 2019

A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations

scientific article

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

scientific article published on 15 September 2012

A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population

scientific article published on 20 November 2018

A homozygous missense variant in CHRM3 associated with familial urinary bladder disease

scientific article published on 11 September 2019

A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault-like syndrome with renal defects

scientific article published on 19 April 2018

A network analysis to identify mediators of germline-driven differences in breast cancer prognosis

scientific article published on 16 January 2020

A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25-q26.

scientific article published on 27 January 2007

A pragmatic randomized controlled trial of thiopurine methyltransferase genotyping prior to azathioprine treatment: the TARGET study

scientific article published on 3 May 2011

A prospective, randomized, placebo-controlled, double-blind, multicenter study of the effects of irbesartan on aortic dilatation in Marfan syndrome (AIMS trial): study protocol.

scientific article

A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis

scientific article published on 09 August 2016

A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families

scientific article published on 12 December 2019

A risk haplotype in the Solute Carrier Family 22A4/22A5 gene cluster influences phenotypic expression of Crohn's disease

scientific article

A role for genetic counsellors and clinical geneticists in pharmacogenetics?

scientific article published on 09 April 2012

A single nucleotide polymorphism of bone morphogenic protein-15 is not associated with ovarian reserve or response to ovarian stimulation

scientific article published on 21 October 2014

A synonymous variant in TREX1 is associated with systemic sclerosis and severe digital ischaemia

scientific article published on 30 August 2016

AMH type II receptor and AMH gene polymorphisms are not associated with ovarian reserve, response, or outcomes in ovarian stimulation.

scientific article published on 03 May 2016

Accounting for Capacity Constraints in Economic Evaluations of Precision Medicine: A Systematic Review

scientific article published on 01 August 2019

Advantages of a subcutaneous implantable cardioverter-defibrillator in LAMP2 hypertrophic cardiomyopathy

scientific article published on 11 April 2013

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

scientific article published on 15 January 2015

Allele and genotype frequencies of the polymorphic cytochrome P450 genes (CYP1A1, CYP3A4, CYP3A5, CYP2C9 and CYP2C19) in the Jordanian population

scientific article

Are health technology assessments of pharmacogenetic tests feasible? A case study ofCYP2D6testing in the treatment of breast cancer with tamoxifen

article

Are patients with intermediate TPMT activity at increased risk of myelosuppression when taking thiopurine medications?

scientific article published on February 2010

Array comparative genomic hybridization for diagnosis of developmental delay: an exploratory cost-consequences analysis.

scientific article published in March 2007

Assessing individual breast cancer risk within the U.K. National Health Service Breast Screening Program: a new paradigm for cancer prevention

scientific article

Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations

scientific article published on 20 July 2015

Association of a promoter polymorphism in FSHR with ovarian reserve and response to ovarian stimulation in women undergoing assisted reproductive treatment

scientific article

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

scientific article published on 18 August 2021

Avoidance of CYP2D6 inhibitors in patients receiving tamoxifen

scientific article published on 7 September 2010

Bayesian refinement of association signals for 14 loci in 3 common diseases

scientific article published on 28 October 2012

Breast cancer pathology and stage are better predicted by risk stratification models that include mammographic density and common genetic variants

scientific article

Breast cancer pharmacogenomics: where we are going

article

Breast cancer susceptibility variants alter risk in familial ovarian cancer

scientific article published in December 2010

Breast cancer susceptibility variants alter risks in familial disease.

scientific article

CARD15 and HLA DRB1 alleles influence susceptibility and disease localization in Crohn's disease

scientific article published in February 2004

CD2BP1 and CARD15 mutations are not associated with pyoderma gangrenosum in patients with inflammatory bowel disease

scientific article published in April 2004

COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia

scientific article

CTLA4/ICOS gene variants and haplotypes are associated with rheumatoid arthritis and primary biliary cirrhosis in the Canadian population

scientific article published on April 2009

CYP2D6 genotype affects outcome in postmenopausal breast cancer patients treated with tamoxifen monotherapy.

scientific article published on 18 May 2010

Can manipulation of splicing offer gene therapy possibilities to those with tumour-prone disorders?

scientific article published on 28 November 2012

Chiari I malformation without hydrocephalus: acute intracranial hypertension managed with endoscopic third ventriculostomy (ETV).

scientific article published on 15 July 2008

Classification and correlation of RYR2 missense variants in individuals with catecholaminergic polymorphic ventricular tachycardia reveals phenotypic relationships

scientific article published on 10 March 2020

Clinical and genetic heterogeneity in Melkersson-Rosenthal Syndrome.

scientific article

Combined associations of a polygenic risk score and classical risk factors with breast cancer risk

scientific article published on 02 May 2020

Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome

scientific article

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

scientific article

Comprehensive CYP2D6 genotype and adherence affect outcome in breast cancer patients treated with tamoxifen monotherapy

scientific article published on September 2010

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

scientific article published on 13 April 2016

Coordinated expression of matrix Gla protein is required during endochondral ossification for chondrocyte survival

scientific article

Current status and future potential of somatic mutation testing from circulating free DNA in patients with solid tumours

scientific article

Current use of pharmacogenetic testing: a national survey of thiopurine methyltransferase testing prior to azathioprine prescription.

scientific article published in April 2007

DLG5 variants contribute to Crohn disease risk in a Canadian population

article

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

scientific article

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

scientific article

Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome.

scientific article published on 17 September 2015

Delivering a pharmacogenetic service: is there a role for genetic counselors?

scientific article

Delivery of a clinical genomics service

scientific article

Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.

scientific article

Developing national guidance on genetic testing for breast cancer predisposition: the role of economic evidence?

scientific article published on 07 February 2012

Diagnosing and Preventing Hearing Loss in the Genomic Age

scientific article published on 01 January 2019

Diagnostic Mutation Profiling and Validation of Non-Small-Cell Lung Cancer Small Biopsy Samples using a High Throughput Platform.

scientific article published in May 2015

Disease modeling of core pre-mRNA splicing factor haploinsufficiency

scientific article published on 01 November 2019

Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases

scientific journal article

EFTUD2 missense variants disrupt protein function and splicing in Mandibulofacial Dysostosis Guion-Almeida type

scientific article published on 25 April 2020

EGFR and KRAS Mutational Analysis and Their Correlation to Survival in Pancreatic and Periampullary Cancer

article

Endogenous Candida endophthalmitis and osteomyelitis associated with CARD9 deficiency.

scientific article

Epidermal growth factor receptor in pancreatic cancer.

scientific article published on 24 March 2011

Erratum: A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis

scientific article published on 13 September 2016

Erratum: Corrigendum: Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

scholarly article published in Nature Genetics

Exacerbation of hereditary warfarin resistance by azathioprine.

scientific article

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

scientific article

Exome sequencing identifies ATP4A gene as responsible of an atypical familial type I gastric neuroendocrine tumour.

scientific article

Expanding the clinical spectrum of SLC29A3 gene defects

article

Expanding the genotypic spectrum of Perrault syndrome.

scientific article published on 11 March 2016

Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7.

scientific article published on 9 January 2017

Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia

scientific article

FSH receptor genotype does not predict metaphase-II oocyte output or fertilization rates in ICSI patients

scientific article published on 20 June 2013

Fine-mapping CASP8 risk variants in breast cancer

scientific article published on 4 November 2011

First evidence of genotype-phenotype correlations in Gorlin syndrome

scientific article published on 08 June 2017

Follicle-stimulating hormone receptor gene polymorphisms are not associated with ovarian reserve markers

article

Foramen ovale closure is a process of endothelial-to-mesenchymal transition leading to fibrosis

scientific article

Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3.

scientific article

Future Advances in Cancer Pharmacogenomics

article

G6PC3 mutations cause non-syndromic severe congenital neutropenia

scientific article

Gender-stratified analysis of DLG5 R30Q in 4707 patients with Crohn disease and 4973 controls from 12 Caucasian cohorts.

scientific article published on 10 August 2007

Genetic analysis of thiopurine methyltransferase polymorphism in the Jordanian population.

scientific article published on 3 June 2010

Genetic dissection of inflammatory bowel disease: unravelling etiology and improving diagnostics.

scientific article

Genetic testing in the acute setting: a round table discussion

scientific article published on 14 July 2020

Genetic variants in IL-23R and ATG16L1 independently predispose to increased susceptibility to Crohn's disease in a Canadian population.

scientific article published in May 2009

Genetics of mitochondrial dysfunction and infertility

scientific article

Genetics of patent foramen ovale--NKX2-5 and beyond

scientific article

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

scientific article published on 18 May 2020

Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

scientific article published on 9 January 2017

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

scientific article

Genome-wide association study of germline variants and breast cancer-specific mortality

scientific article published on 21 February 2019

Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region

scientific article

Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci

scientific article

Germline SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomas

scientific article published on 6 October 2014

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

scientific article

Germline selection shapes human mitochondrial DNA diversity

scientific article published on 23 May 2019

Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24.

scientific article

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

scientific article

Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations

scientific article published on 4 July 2012

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

scientific article

Heparanase 2, mutated in urofacial syndrome, mediates peripheral neural development in Xenopus

scientific article published on April 2014

Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome

scientific article published on 19 February 2007

High sensitivity for BRCA1/2 mutations in breast/ovarian kindreds: are there still other breast/ovary genes to be discovered?

article

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

scientific article

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

scientific article

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

scientific article published in April 2017

Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease

scientific article

Human SNP links differential outcomes in inflammatory and infectious disease to a FOXO3-regulated pathway

scientific article published on 12 September 2013

Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency

scientific article

Identification of Patients With Variants in TPMT and Dose Reduction Reduces Hematologic Events During Thiopurine Treatment of Inflammatory Bowel Disease

scientific article

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.

scientific article published in July 2015

Identification of a novel familial FGF16 mutation in metacarpal 4–5 fusion

article

Identification of a novel familial FGF16 mutation in two cases of MF4

Identifying Causal Genetic Factors

article

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

scientific article published on 28 December 2016

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

scientific article published on 05 February 2021

Impaired tamoxifen metabolism reduces survival in familial breast cancer patients

scientific article published on September 2008

Improving pharmacovigilance in Europe: TPMT genotyping and phenotyping in the UK and Spain

scientific article

Incorporating progesterone receptor expression into the PREDICT breast prognostic model

scientific article published in 2022

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

scientific article

Inflammatory Bowel Disease in the South Asian Population of Northwest England

article

Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study

scientific article

Integrating polygenic risk scores in the prediction of type 2 diabetes risk and subtypes in British Pakistanis and Bangladeshis: A population-based cohort study

scientific article published on 19 May 2022

Intronic splicing mutations in PTCH1 cause Gorlin syndrome.

scientific article published on September 2014

Iron overload in the Asian community.

scientific article published on 2 April 2009

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.

scientific article published on 20 November 2012

Isolated unilateral vestibular schwannomas do not harbor HRAS mutations

scientific article published on 01 June 2010

LRIG2 mutations cause urofacial syndrome

scientific article

Lack of caveolin-1 (P132L) somatic mutations in breast cancer

article

Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis

scientific article

Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas

scientific article published on 3 February 2013

Loss-of-function variants in myocardin cause congenital megabladder in humans and mice

scientific article published on 01 December 2019

Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder

scientific article published on 08 March 2019

Marfanoid habitus is a nonspecific feature of Perrault syndrome.

scientific article

Maternal mosaicism for IDUA deletion clarifies recurrence risk in MPS I.

scientific article published on 6 October 2016

Matrix Gla protein is differentially expressed during the deposition of a calcified matrix by vascular pericytes

scientific article

Mendelian randomisation study of smoking exposure in relation to breast cancer risk

scientific article published in October 2021

Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

scientific journal article

Microfluidic platform for single nucleotide polymorphism genotyping of the thiopurine S-methyltransferase gene to evaluate risk for adverse drug events

scientific article

Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis

scientific article published on 19 February 2008

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.

scientific article published on 9 March 2016

Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome

scientific article published on November 2011

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome

scientific article

Mutations in HPSE2 Cause Urofacial Syndrome

scientific article published in August 2010

Mutations in HPSE2 cause urofacial syndrome

scientific article

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

scientific article

Mutations in the G6PC3 gene cause Dursun syndrome.

scientific article

Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome.

scientific article

Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome

scientific article

Natural history of azathioprine-associated lymphopenia in inflammatory bowel disease patients

article

Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3

article

Non lethal Raine syndrome and differential diagnosis

scientific article published on 22 September 2016

Novel corticosteroid-binding globulin variant that lacks steroid binding activity

scientific article published on 7 July 2010

Novel loci associated with increased risk of sudden cardiac death in the context of coronary artery disease

scientific article

ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.

scientific article published on 6 January 2017

Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.

scientific article published on 20 July 2015

PCOS and peripheral AMH levels in relation to FSH receptor gene single nucleotide polymorphisms

scientific article published on 20 March 2012

Patients' and healthcare professionals' views on pharmacogenetic testing and its future delivery in the NHS.

scientific article published on November 2007

Pernicious anemia - genetic insights

scientific article

Perrault Syndrome

scientific article published on 6 September 2018

Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease

scientific article published on 28 March 2013

Perrault syndrome: further evidence for genetic heterogeneity

scientific article published on 27 October 2011

Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders

scientific article published on 20 April 2021

Pharmacogenetic testing in the United Kingdom genetics and immunogenetics laboratories

scientific article published in February 2010

Pharmacogenetics and pharmacogenomics: a clinical reality.

scientific article published on 06 July 2011

Pharmacogenetics in the management of breast cancer -- prospects for individualised treatment.

scientific article

Pharmacogenetics of aromatase inhibitors.

scientific article published on April 2012

Pharmacogenetics: Making cancer treatment safer and more effective

Pharmacogenetics: transforming clinical medicine.

scientific article published on January 2012

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

scientific article

Polymorphisms of CYP19A1 and response to aromatase inhibitors in metastatic breast cancer patients

scientific article published on 15 March 2012

Prevention of breast cancer in the context of a national breast screening programme

scientific article published on 01 April 2012

Principles of Cancer Treatment

article

Principles of Genetics and Pharmacogenetics

article

Proteins encoded in genomic regions associated with immune-mediated disease physically interact and suggest underlying biology

scientific article

Proximal myotonic myopathy (PROMM) presenting as myotonia during pregnancy

scientific article published on 01 May 1999

RAS testing of colorectal carcinoma—a guidance document from the Association of Clinical Pathologists Molecular Pathology and Diagnostics Group

scientific article published in September 2014

RASSF1A polymorphism in familial breast cancer

scientific article published in September 2010

Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction

scientific article published on 01 May 2019

Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry

scientific article

Rates of loss of heterozygosity and mitotic recombination in NF2 schwannomas, sporadic vestibular schwannomas and schwannomatosis schwannomas

scientific article published on 23 August 2010

Re: Pharmacogenomic variation of CYP2D6 and the choice of optimal adjuvant endocrine therapy for postmenopausal breast cancer: a modeling analysis

scientific article

Relationship of ZNF423 and CTSO with breast cancer risk in two randomised tamoxifen prevention trials.

scientific article published on 11 July 2016

Removing barriers to a clinical pharmacogenetics service

article

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

scientific article

Reply: Guesstimates are not good enough for determining what is happening in routine care.

scientific article

Response to: 'Mutation in MMP2 gene may result in scleroderma-like skin thickening' by Bader-Meunier et al.

scientific article published on 13 October 2015

Review of biomarkers in colorectal cancer ⬇️

scientific article published on January 1, 2012

SLC22A4 polymorphisms implicated in rheumatoid arthritis and Crohn's disease are not associated with rheumatoid arthritis in a Canadian Caucasian population

article

SMARCB1 mutations are not a common cause of multiple meningiomas

scientific article published on 14 May 2010

SMARCE1 mutations in pediatric clear cell meningioma: case report

scientific article published on 26 June 2015

Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing

scientific article

Seven newly identified loci for autoimmune thyroid disease

scientific article

Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene

scientific article published on 12 September 2016

Severe intellectual disability in a patient with Burn-McKeown syndrome

scientific article published on 01 July 2017

Skeletal dysplasias caused by a disruption of skeletal patterning and endochondral ossification.

scientific article

Spectrum of PEX1 and PEX6 variants in Heimler syndrome ⬇️

scientific article published on 15 June 2016

TPMT testing in azathioprine: a ‘cost-effective use of healthcare resources’?

article

TPMT testing in rheumatology: any better than routine monitoring?

scientific article

The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes

The Cost-Effectiveness of a Pharmacogenetic Test: A Trial-Based Evaluation of TPMT Genotyping for Azathioprine

article

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

scientific article published on 01 November 2019

The Impact of CYP2D6 Genotyping on Tamoxifen Treatment

scientific article

The MDM2 Promoter SNP285C/309G Haplotype Diminishes Sp1 Transcription Factor Binding and Reduces Risk for Breast and Ovarian Cancer in Caucasians

article

The SPINK1 N34S variant is associated with acute pancreatitis

scientific article published in April 2009

The clinical effectiveness and cost-effectiveness of genotyping for CYP2D6 for the management of women with breast cancer treated with tamoxifen: a systematic review

scientific article

The clinical management of relatives of young sudden unexplained death victims; implantable defibrillators are rarely indicated

scientific article published in April 2012

The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single‐institution experience

scientific article published in 2021

The genetic basis of DOORS syndrome: an exome-sequencing study

scientific article

The impact of a panel of 18 SNPs on breast cancer risk in women attending a UK familial screening clinic: a case-control study

scientific article

The impact of different DNA extraction kits and laboratories upon the assessment of human gut microbiota composition by 16S rRNA gene sequencing

scientific article

The mutational spectrum of brachydactyly type C

article

TheBRCA2polymorphic stop codon: stuff or nonsense?

scientific article published on 03 June 2015

Toriello-Carey syndrome: Delineation and review

article

Two truncating variants in FANCC and breast cancer risk

scientific article published on 29 August 2019

UGT1A1*28 genotype predicts gastrointestinal toxicity in patients treated with intermediate-dose irinotecan.

scientific article

Understanding barriers to the introduction of precision medicines in non-small cell lung cancer: A qualitative interview protocol.

scientific article

Understanding chemotherapy treatment pathways of advanced colorectal cancer patients to inform an economic evaluation in the United Kingdom.

scientific article

Urinary tract effects of HPSE2 mutations

scientific article

Urofacial Syndrome

Urofacial syndrome: a genetic and congenital disease of aberrant urinary bladder innervation.

scientific article published on 09 July 2013

Use of Single-Nucleotide Polymorphisms and Mammographic Density Plus Classic Risk Factors for Breast Cancer Risk Prediction

scientific article published on 18 January 2018

Using a biomarker acutely to identify babies at risk of serious adverse effects from antibiotics: where is the 'Terrible Moral and Medical Dilemma'?

scientific article published on 17 December 2020

Validation of copy number variation analysis for next-generation sequencing diagnostics

scientific article published on 5 April 2017

Valuing pharmacogenetic testing services: A comparison of patients' and health care professionals' preferences

article

Variability of bone marrow morphology in G6PC3 mutations: Is there a genotype-phenotype correlation or age-dependent relationship?

article

W4R variant in CSRP3 encoding muscle LIM protein in a patient with hypertrophic cardiomyopathy

scientific article published on 22 January 2005

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

scientific article published on 01 February 2019

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

scientific article published on 9 February 2016

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