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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

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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Comparison of Bayesian approaches for developing prediction models in rare disease: application to the identification of patients with Maturity-Onset Diabetes of the Young

BMC medical research methodology, 2024-06, Vol.24 (1), p.128-17

2024

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Precision diabetes: learning from monogenic diabetes

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

2017

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Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11

European journal of endocrinology, 2021-12, Vol.185 (6), p.813-818

2021

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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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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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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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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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Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts

Nature genetics, 2024-09, Vol.56 (9), p.1772-1779

2024

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

Human molecular genetics, 2024-02, Vol.33 (5), p.465-474

2024

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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

Comparison of Bayesian approaches for developing prediction models in rare disease: application to the identification of patients with Maturity-Onset Diabetes of the Young

Precision diabetes: learning from monogenic diabetes

Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11

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

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

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

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

Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts

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

Hyperinsulinemic Hypoglycemia Diagnosed in Childhood Can Be Monogenic

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

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