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Type 2 Diabetes and COVID-19-Related Mortality in the Critical Care Setting: A National Cohort Study in England, March-July 2020

Diabetes care, 2021-01, Vol.44 (1), p.50-57

2021

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

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

2022

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Prospective functional classification of all possible missense variants in PPARG

Nature genetics, 2016-12, Vol.48 (12), p.1570-1575

2016

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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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Loss of MANF Causes Childhood-Onset Syndromic Diabetes Due to Increased Endoplasmic Reticulum Stress

Diabetes (New York, N.Y.), 2021-04, Vol.70 (4), p.1006-1018

2021

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Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance

Nature communications, 2017-10, Vol.8 (1), p.888-8, Article 888

2017

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Precision diabetes: learning from monogenic diabetes

Diabetologia, 2017-05, Vol.60 (5), p.769-777

2017

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Expanding the Phenotype of TRMT10A Mutations: Case Report and a Review of the Existing Cases

Journal of clinical research in pediatric endocrinology, 2023-03, Vol.15 (1), p.90-96

2023

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Insights into the genetics of menopausal vasomotor symptoms: genome-wide analyses of routinely-collected primary care health records

BMC medical genomics, 2023-10, Vol.16 (1), p.231-231, Article 231

2023

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Incretin hormone responses to carbohydrate and protein/fat are preserved in adults with sulfonylurea‐treated KCNJ11 neonatal diabetes

Journal of diabetes investigation, 2023-12, Vol.14 (12), p.1378-1382

2023

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Prediction algorithms: pitfalls in interpreting genetic variants of autosomal dominant monogenic diabetes

The Journal of clinical investigation, 2020-01, Vol.130 (1), p.14-16

2020

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MANF supports the inner hair cell synapse and the outer hair cell stereocilia bundle in the cochlea

Life science alliance, 2022-02, Vol.5 (2), p.e202101068

2022

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A UK nationwide prospective study of treatment change in MODY: genetic subtype and clinical characteristics predict optimal glycaemic control after discontinuing insulin and metformin

Diabetologia, 2018-12, Vol.61 (12), p.2520-2527

2018

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Unreliability of genotyping arrays for detecting very rare variants in human genetic studies: Example from a recent study of MC4R

Cell, 2021-04, Vol.184 (7), p.1651-1651

2021

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Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY

Diabetes (New York, N.Y.), 2022-05, Vol.71 (5), p.1128-1136

2022

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Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts

American journal of human genetics, 2022-11, Vol.109 (11), p.2018-2028

2022

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PLIN1 Haploinsufficiency Causes a Favorable Metabolic Profile

The journal of clinical endocrinology and metabolism, 2022-05, Vol.107 (6), p.e2318-e2323

2022

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The relationship between islet autoantibody status and the genetic risk of type 1 diabetes in adult-onset type 1 diabetes

Diabetologia, 2023-02, Vol.66 (2), p.310-320

2023

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All thresholds of maternal hyperglycaemia from the WHO 2013 criteria for gestational diabetes identify women with a higher genetic risk for type 2 diabetes

Wellcome open research, 2020-01, Vol.5, p.175-175

2020

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The Role of ONECUT1 Variants in Monogenic and Type 2 Diabetes Mellitus

Diabetes (New York, N.Y.), 2023-11, Vol.72 (11), p.1729-1734

2023

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Islet Autoantibody Level Distribution in Type 1 Diabetes and Their Association With Genetic and Clinical Characteristics

The journal of clinical endocrinology and metabolism, 2022-12, Vol.107 (12), p.e4341-e4349

2022

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Penetrance and expressivity of mitochondrial variants in a large clinically unselected population

Human molecular genetics, 2023-11, Vol.33 (5), p.465-474

2023

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Zinc Transporter 8 Autoantibodies (ZnT8A) and a Type 1 Diabetes Genetic Risk Score Can Exclude Individuals With Type 1 Diabetes From Inappropriate Genetic Testing for Monogenic Diabetes

Diabetes care, 2019-02, Vol.42 (2), p.e16-e17

2019

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Hyperinsulinemic Hypoglycemia Diagnosed in Childhood Can Be Monogenic

The journal of clinical endocrinology and metabolism, 2023-03, Vol.108 (3), p.680-687

2023

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Type 1 diabetes can present before the age of 6 months and is characterised by autoimmunity and rapid loss of beta cells

Diabetologia, 2020-12, Vol.63 (12), p.2605-2615

2020

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Type 2 Diabetes and COVID-19-Related Mortality in the Critical Care Setting: A National Cohort Study in England, March-July 2020

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

Prospective functional classification of all possible missense variants in PPARG

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

Loss of MANF Causes Childhood-Onset Syndromic Diabetes Due to Increased Endoplasmic Reticulum Stress

Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance

Precision diabetes: learning from monogenic diabetes

Expanding the Phenotype of TRMT10A Mutations: Case Report and a Review of the Existing Cases

Insights into the genetics of menopausal vasomotor symptoms: genome-wide analyses of routinely-collected primary care health records

Incretin hormone responses to carbohydrate and protein/fat are preserved in adults with sulfonylurea‐treated KCNJ11 neonatal diabetes

Prediction algorithms: pitfalls in interpreting genetic variants of autosomal dominant monogenic diabetes

MANF supports the inner hair cell synapse and the outer hair cell stereocilia bundle in the cochlea

A UK nationwide prospective study of treatment change in MODY: genetic subtype and clinical characteristics predict optimal glycaemic control after discontinuing insulin and metformin

Unreliability of genotyping arrays for detecting very rare variants in human genetic studies: Example from a recent study of MC4R

Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY

Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts

PLIN1 Haploinsufficiency Causes a Favorable Metabolic Profile

The relationship between islet autoantibody status and the genetic risk of type 1 diabetes in adult-onset type 1 diabetes

All thresholds of maternal hyperglycaemia from the WHO 2013 criteria for gestational diabetes identify women with a higher genetic risk for type 2 diabetes

The Role of ONECUT1 Variants in Monogenic and Type 2 Diabetes Mellitus

Islet Autoantibody Level Distribution in Type 1 Diabetes and Their Association With Genetic and Clinical Characteristics

Penetrance and expressivity of mitochondrial variants in a large clinically unselected population

Zinc Transporter 8 Autoantibodies (ZnT8A) and a Type 1 Diabetes Genetic Risk Score Can Exclude Individuals With Type 1 Diabetes From Inappropriate Genetic Testing for Monogenic Diabetes

Hyperinsulinemic Hypoglycemia Diagnosed in Childhood Can Be Monogenic

Type 1 diabetes can present before the age of 6 months and is characterised by autoimmunity and rapid loss of beta cells

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