Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry

Systematic Population Screening, Using Biomarkers and Genetic Testing, Identifies 2.5% of the U.K. Pediatric Diabetes Population With Monogenic Diabetes

(2016) Maggie Shepherd et al.   DIABETES CARE

Comparison of GENCODE and RefSeq gene annotation and the impact of reference geneset on variant effect prediction

(2015) Adam Frankish et al.   BMC GENOMICS

Glucokinase MODY and Implications for Treatment Goals of Common Forms of Diabetes

(2014) Ramzi A. Ajjan et al.   Current Diabetes Reports

Association of a Low-Frequency Variant inHNF1AWith Type 2 Diabetes in a Latino Population

(2014) Karol Estrada et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

The diagnosis and management of monogenic diabetes in children and adolescents

(2014) Oscar Rubio-Cabezas et al.   PEDIATRIC DIABETES

Choice of transcripts and software has a large effect on variant annotation

(2014) Davis J McCarthy et al.   Genome Medicine

Growth references for 0–19 year-old Norwegian children for length/height, weight, body mass index and head circumference

(2013) Pétur B. Júlíusson et al.   ANNALS OF HUMAN BIOLOGY

Cross-sectional and longitudinal studies suggest pharmacological treatment used in patients with glucokinase mutations does not alter glycaemia

(2013) Amanda Stride et al.   DIABETOLOGIA

Incidence of type 1 diabetes in Norway among children aged 0–14 years between 1989 and 2012: has the incidence stopped rising? Results from the Norwegian Childhood Diabetes Registry

(2013) Torild Skrivarhaug et al.   DIABETOLOGIA

Prevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry

(2013) H. U. Irgens et al.   DIABETOLOGIA

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

(2013) Kevin Colclough et al.   HUMAN MUTATION

Early Development of Hyperparathyroidism Due to Loss ofPTHTranscriptional Repression in Patients With HNF1β Mutations?

(2013) Silvia Ferrè et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Prevalence, Characteristics and Clinical Diagnosis of Maturity Onset Diabetes of the Young Due to Mutations in HNF1A, HNF4A, and Glucokinase: Results From the SEARCH for Diabetes in Youth

(2013) Catherine Pihoker et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes

(2013) Jason Flannick et al.   NATURE GENETICS

The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis

(2012) Martine Vaxillaire et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Insights Into the Pathogenicity of Rare Missense GCK Variants From the Identification and Functional Characterization of Compound Heterozygous and Double Mutations Inherited in Cis

(2012) N. L. Beer et al.   DIABETES CARE

Systematic Assessment of Etiology in Adults With a Clinical Diagnosis of Young-Onset Type 2 Diabetes Is a Successful Strategy for Identifying Maturity-Onset Diabetes of the Young

(2012) G. Thanabalasingham et al.   DIABETES CARE

Prevalence of monogenic diabetes amongst Polish children after a nationwide genetic screening campaign

(2012) W. Fendler et al.   DIABETOLOGIA

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Urinary C-Peptide Creatinine Ratio Is a Practical Outpatient Tool for Identifying Hepatocyte Nuclear Factor 1- /Hepatocyte Nuclear Factor 4-  Maturity-Onset Diabetes of the Young From Long-Duration Type 1 Diabetes

(2011) R. E. J. Besser et al.   DIABETES CARE

High-Sensitivity CRP Discriminates HNF1A-MODY From Other Subtypes of Diabetes: Figure 1

(2011) Tim J. McDonald et al.   DIABETES CARE

Islet autoantibodies can discriminate maturity-onset diabetes of the young (MODY) from Type 1 diabetes

(2011) T. J. McDonald et al.   DIABETIC MEDICINE

A large multi-centre European study validates high-sensitivity C-reactive protein (hsCRP) as a clinical biomarker for the diagnosis of diabetes subtypes

(2011) G. Thanabalasingham et al.   DIABETOLOGIA

A genetic diagnosis ofHNF1Adiabetes alters treatment and improves glycaemic control in the majority of insulin-treated patients

(2009) M. Shepherd et al.   DIABETIC MEDICINE

Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia

(2009) Kara K. Osbak et al.   HUMAN MUTATION

Mutations in the Insulin Gene Can Cause MODY and Autoantibody-Negative Type 1 Diabetes

(2008) A. Molven et al.   DIABETES

Catalytic activation of human glucokinase by substrate binding - residue contacts involved in the binding of D-glucose to the super-open form and conformational transitions

(2008) Janne Molnes et al.   FEBS Journal

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

(2008) Sharon E. Plon et al.   HUMAN MUTATION

Diagnostic screening of MODY2/GCKmutations in the Norwegian MODY Registry

(2008) Jørn V Sagen et al.   PEDIATRIC DIABETES