M. Owens

发表

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.

R. Pfundt, S. Robertson, D. Wieczorek, 2017, American journal of human genetics.

ACGS Best Practice Guidelines for Variant Classification 2019

Diana M Eccles, Clare Turnbull, Emma L Baple, 2019 .

Using Structural Analysis In Silico to Assess the Impact of Missense Variants in MEN1

Adam C Gunning, S. Ellard, C. Wright, 2019, bioRxiv.

Using Structural Analysis In Silico to Assess the Impact of Missense Variants in MEN1

Adam C Gunning, S. Ellard, C. Wright, 2019, bioRxiv.

Basic science232. Certolizumab pegol prevents pro-inflammatory alterations in endothelial cell function

H. L. Wright, R. Moots, T. Spector, 2012 .

Hepatocyte nuclear factor-1beta gene deletions--a common cause of renal disease.

A. Hattersley, S. Ellard, L. Harries, 2007, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

A Comparison of Methods for EGFR Mutation Testing in Non–Small Cell Lung Cancer

S. Ellard, J. Knight, I. Cree, 2013, Diagnostic molecular pathology : the American journal of surgical pathology, part B.

A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies

S. Bale, N. Braverman, C. Tysoe, 2013, Genetics in Medicine.

Pseudohypoaldosteronism type 2 presenting with hypertension and hyperkalaemia due to a novel mutation in the WNK4 gene.

S. Ellard, J. Sayer, B. Vaidya, 2012, QJM : monthly journal of the Association of Physicians.

Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory

Adam C Gunning, S. Ellard, C. Wright, 2022, Genome medicine.

Germline mutations in the CDKN1B gene encoding p27Kip1 are a rare cause of multiple endocrine neoplasia type 1

S. Ellard, K. Stals, B. Vaidya, 2009, Clinical endocrinology.

Novel compound heterozygous mutations in ENPP1 cause hypophosphataemic rickets with anterior spinal ligament ossification.

P. Mehta, R. Caswell, C. Tysoe, 2012, Rheumatology.

Diagnostic RET genetic testing in 1,058 index patients: A UK centre perspective

S. Ellard, B. Vaidya, M. Owens, 2020, Clinical endocrinology.

Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young

T. Hansen, O. Pedersen, A. Hattersley, 2007, Diabetologia.

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Kristin M. Scheible, U. Surti, P. Stankiewicz, 2016, Human Genetics.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Patrick J. Short, M. Hurles, L. Vissers, 2020, Nature.

The contribution of X-linked coding variation to severe developmental disorders

M. Hurles, R. Sandford, D. Baralle, 2020, Nature Communications.

Pitfalls of haplotype phasing from amplicon-based long-read sequencing

Sian Ellard, Karen A Moore, M. Weedon, 2016, Scientific Reports.

Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants

P. Tarpey, D. Baralle, J. Tolmie, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2020

S. Ellard, D. Eccles, W. Newman, 2020 .

Analysis of gross deletions in the MEN1 gene in patients with multiple endocrine neoplasia type 1

S. Ellard, B. Vaidya, M. Owens, 2008, Clinical endocrinology.

Heterogeneous Genetic Background of the Association of Pheochromocytoma/Paraganglioma and Pituitary Adenoma: Results From a Large Patient Cohort

Julian R. E. Davis, R. Eeles, U. Srirangalingam, 2014, The Journal of clinical endocrinology and metabolism.

Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation

V. Quesada, Diana A. Puente, C. López-Otín, 2016, Journal of Medical Genetics.

SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B

S. Ellard, H. L. Allen, P. Brennan, 2016, Clinical endocrinology.

AIP variant causing familial prolactinoma

M. Korbonits, R. Drummond, M. Owens, 2020, Pituitary.

A practical guide to genetic testing in endocrinology

S. Wilcox, Soo-Mi Park, L. Izatt, 2021, Clinical endocrinology.

Heterogeneous Genetic Background of the Association of Pheochromocytoma/Paraganglioma and Pituitary Adenoma: Results From a Large Patient Cohort

Julian R. E. Davis, R. Eeles, U. Srirangalingam, 2014, The Journal of clinical endocrinology and metabolism.