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The future of parentage analysis: From microsatellites to SNPs and beyond

Molecular ecology, 2019-02, Vol.28 (3), p.544-567

2019

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The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study

The Lancet (British edition), 2015-09, Vol.386 (9997), p.957-963

2015

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'Reaching the hard to reach'--lessons learned from the VCS (voluntary and community Sector). A qualitative study

BMC health services research, 2010-04, Vol.10 (1), p.92-92, Article 92

2010

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The effectiveness of integrated care interventions in improving patient quality of life (QoL) for patients with chronic conditions. An overview of the systematic review evidence

Health and quality of life outcomes, 2017-09, Vol.15 (1), p.188-188, Article 188

2017

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3D Printed Face Shields: A Community Response to the COVID-19 Global Pandemic

Academic radiology, 2020-06, Vol.27 (6), p.905-906

2020

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Pancreatic endocrine and exocrine function in children following near-total pancreatectomy for diffuse congenital hyperinsulinism

PloS one, 2014-05, Vol.9 (5), p.e98054-e98054

2014

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Constraints on the FST-Heterozygosity Outlier Approach

The Journal of heredity, 2017-07, Vol.108 (5), p.561-573

2017

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Supergenes are not necessary to explain the maintenance of complex alternative phenotypes

Proceedings of the Royal Society. B, Biological sciences, 2024-10, Vol.291 (2033), p.20241715

2024

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Neonatal and early‐onset diabetes in Ukraine: Atypical features and mortality

Diabetic medicine, 2023-05, Vol.40 (5), p.e15013-n/a

2023

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Mutations in the Genes Encoding the Transcription Factors Hepatocyte Nuclear Factor 1 Alpha and 4 Alpha in Maturity-Onset Diabetes of the Young and Hyperinsulinemic Hypoglycemia

Human mutation, 2013-05, Vol.34 (5), p.669-685

2013

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SavvyCNV: Genome-wide CNV calling from off-target reads

PLoS computational biology, 2022-03, Vol.18 (3), p.e1009940

2022

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Type 1 Diabetes Genetic Risk Score: A Novel Tool to Discriminate Monogenic and Type 1 Diabetes

Diabetes (New York, N.Y.), 2016-07, Vol.65 (7), p.2094-2099

2016

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Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389

PloS one, 2020-02, Vol.15 (2), p.e0228417-e0228417

2020

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Disrupted β-cell-specific gene silencing causes congenital hyperinsulinism

Nature genetics, 2022-11, Vol.54 (11), p.1597-1598

2022

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Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts

Diabetes (New York, N.Y.), 2017-07, Vol.66 (7), p.2044-2053

2017

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Differentiation measures for conservation genetics

Evolutionary applications, 2018-08, Vol.11 (7), p.1139-1148

2018

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Guidelines for planning genomic assessment and monitoring of locally adaptive variation to inform species conservation

Evolutionary applications, 2018-08, Vol.11 (7), p.1035-1052

2018

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Is Preoperative Urine Human Chorionic Gonadotropin (hCG) Testing Necessary for Pediatric Patients Before Oral and Maxillofacial Surgery Procedures With Sedation?

Journal of oral and maxillofacial surgery, 2023-02, Vol.81 (2), p.150-155

2023

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Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism

European journal of endocrinology, 2013-04, Vol.168 (4), p.557-564

2013

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Monogenic disease analysis establishes that fetal insulin accounts for half of human fetal growth

The Journal of clinical investigation, 2023-03, Vol.133 (6)

2023

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Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis

Nature genetics, 2014-01, Vol.46 (1), p.61-64

2014

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The population genomics of repeated freshwater colonizations by Gulf pipefish

Molecular ecology, 2021-04, Vol.30 (7), p.1672-1687

2021

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Two decades since the fetal insulin hypothesis: what have we learned from genetics?

Diabetologia, 2021-04, Vol.64 (4), p.717-726

2021

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Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations

Genetic testing and molecular biomarkers, 2010-08, Vol.14 (4), p.533-537

2010

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An exploration of the data collection methods utilised with children, teenagers and young people (CTYPs)

BMC research notes, 2015-03, Vol.8 (1), p.61-61

2015

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The future of parentage analysis: From microsatellites to SNPs and beyond

The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study

'Reaching the hard to reach'--lessons learned from the VCS (voluntary and community Sector). A qualitative study

The effectiveness of integrated care interventions in improving patient quality of life (QoL) for patients with chronic conditions. An overview of the systematic review evidence

3D Printed Face Shields: A Community Response to the COVID-19 Global Pandemic

Pancreatic endocrine and exocrine function in children following near-total pancreatectomy for diffuse congenital hyperinsulinism

Constraints on the FST-Heterozygosity Outlier Approach

Supergenes are not necessary to explain the maintenance of complex alternative phenotypes

Neonatal and early‐onset diabetes in Ukraine: Atypical features and mortality

Mutations in the Genes Encoding the Transcription Factors Hepatocyte Nuclear Factor 1 Alpha and 4 Alpha in Maturity-Onset Diabetes of the Young and Hyperinsulinemic Hypoglycemia

SavvyCNV: Genome-wide CNV calling from off-target reads

Type 1 Diabetes Genetic Risk Score: A Novel Tool to Discriminate Monogenic and Type 1 Diabetes

Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389

Disrupted β-cell-specific gene silencing causes congenital hyperinsulinism

Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts

Differentiation measures for conservation genetics

Guidelines for planning genomic assessment and monitoring of locally adaptive variation to inform species conservation

Is Preoperative Urine Human Chorionic Gonadotropin (hCG) Testing Necessary for Pediatric Patients Before Oral and Maxillofacial Surgery Procedures With Sedation?

Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism

Monogenic disease analysis establishes that fetal insulin accounts for half of human fetal growth

Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis

The population genomics of repeated freshwater colonizations by Gulf pipefish

Two decades since the fetal insulin hypothesis: what have we learned from genetics?

Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations

An exploration of the data collection methods utilised with children, teenagers and young people (CTYPs)

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