List of works - Andrew Tym Hattersley

Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations

scientific article

Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes

scientific article published on 9 April 2018

Interrogating type 2 diabetes genome-wide association data using a biological pathway-based approach

scientific article

A putative functional polymorphism in the IGF-I gene: association studies with type 2 diabetes, adult height, glucose tolerance, and fetal growth in U.K. populations

scientific article published in July 2002

Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation

scientific article

A Type 1 Diabetes Genetic Risk Score Can Aid Discrimination Between Type 1 and Type 2 Diabetes in Young Adults

scientific article published on 17 November 2015

Type 2 diabetes TCF7L2 risk genotypes alter birth weight: a study of 24,053 individuals

scientific article published on 23 April 2007

A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome

scientific article

Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations

scientific article published on 11 February 2008

Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families

scientific article published on 16 October 2009

Learning from molecular genetics: novel insights arising from the definition of genes for monogenic and type 2 diabetes

scientific article published in November 2008

The diagnosis and management of monogenic diabetes in children and adolescents

article by Oscar Rubio-Cabezas et al published September 2014 in Pediatric Diabetes

HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.

scientific article published on 23 December 2014

An evaluation of HapMap sample size and tagging SNP performance in large-scale empirical and simulated data sets

scientific article

Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man.

scientific article published on January 2014

Permanent Neonatal Diabetes and Enteric Anendocrinosis Associated With Biallelic Mutations in NEUROG3.

scientific article

FTO gene variation and measures of body mass in an African population

scientific article

Frequency and phenotype of type 1 diabetes in the first six decades of life: a cross-sectional, genetically stratified survival analysis from UK Biobank

scientific article published on 30 November 2017

Isomers of the TCF1 gene encoding hepatocyte nuclear factor-1 alpha show differential expression in the pancreas and define the relationship between mutation position and clinical phenotype in monogenic diabetes

scientific article

Regulation of apolipoprotein M gene expression by MODY3 gene hepatocyte nuclear factor-1alpha: haploinsufficiency is associated with reduced serum apolipoprotein M levels

scientific article (publication date: December 2003)

Precision diabetes: learning from monogenic diabetes

scientific article

An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy

scientific article

Association between the T-381C polymorphism of the brain natriuretic peptide gene and risk of type 2 diabetes in human populations

scientific article

Homozygous mutations in NEUROD1 are responsible for a novel syndrome of permanent neonatal diabetes and neurological abnormalities

scientific article

A common variant of the p16(INK4a) genetic region is associated with physical function in older people

scientific article

Missense glucokinase mutation in maturity–onset diabetes of the young and mutation screening in late–onset diabetes

scientific article published on 01 October 1992

Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease

scientific article

GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency

scientific article published on 6 December 2012

Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study: common genetic variants in GCK and TCF7L2 are associated with fasting and postchallenge glucose levels in pregnancy and with the new consensus definition of gestational diabetes mellitus from

scientific article

Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations

scientific article

Urinary C-peptide creatinine ratio is a practical outpatient tool for identifying hepatocyte nuclear factor 1-{alpha}/hepatocyte nuclear factor 4-{alpha} maturity-onset diabetes of the young from long-duration type 1 diabetes

scientific article

KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features

scientific article published on 3 May 2006

Mendelian randomization studies do not support a role for raised circulating triglyceride levels influencing type 2 diabetes, glucose levels, or insulin resistance

scientific article

High-sensitivity CRP discriminates HNF1A-MODY from other subtypes of diabetes

scientific article

Extreme phenotypic diversity and nonpenetrance in families with theLMNA gene mutation R644C

article

Recognition and Management of Individuals With Hyperglycemia Because of a Heterozygous Glucokinase Mutation

scientific article published on July 2015

Minireview: pharmacogenetics and beyond: the interaction of therapeutic response, beta-cell physiology, and genetics in diabetes

scientific article

No deterioration in glycemic control in HNF-1alpha maturity-onset diabetes of the young following transfer from long-term insulin to sulphonylureas

scientific article published in November 2003

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

scientific article published on 05 April 2016

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

scientific article published on 04 October 2013

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

scientific article published on 06 June 2016

Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes

scientific article published on 17 October 2008

High-dose glibenclamide can replace insulin therapy despite transitory diarrhea in early-onset diabetes caused by a novel R201L Kir6.2 mutation

scientific article published in March 2005

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

scientific article published on 30 October 2007

Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers

scientific article published on 9 January 2007

Different genes, different diabetes: lessons from maturity-onset diabetes of the young

scientific article

tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans

scientific article

Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients.

scientific article published on 6 February 2013

Excess mortality and cardiovascular disease in young adults with type 1 diabetes in relation to age at onset: a nationwide, register-based cohort study

scientific article published in The Lancet

Contrasting diabetes phenotypes associated with hepatocyte nuclear factor-1alpha and -1beta mutations

scientific article published in May 2004

List of works by Andrew Tym Hattersley

Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations

Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes

Interrogating type 2 diabetes genome-wide association data using a biological pathway-based approach

A putative functional polymorphism in the IGF-I gene: association studies with type 2 diabetes, adult height, glucose tolerance, and fetal growth in U.K. populations

Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation

A Type 1 Diabetes Genetic Risk Score Can Aid Discrimination Between Type 1 and Type 2 Diabetes in Young Adults

Type 2 diabetes TCF7L2 risk genotypes alter birth weight: a study of 24,053 individuals

A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome

Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations

Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families

Learning from molecular genetics: novel insights arising from the definition of genes for monogenic and type 2 diabetes

The diagnosis and management of monogenic diabetes in children and adolescents

HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.

An evaluation of HapMap sample size and tagging SNP performance in large-scale empirical and simulated data sets

Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man.

Permanent Neonatal Diabetes and Enteric Anendocrinosis Associated With Biallelic Mutations in NEUROG3.

FTO gene variation and measures of body mass in an African population

Frequency and phenotype of type 1 diabetes in the first six decades of life: a cross-sectional, genetically stratified survival analysis from UK Biobank

Isomers of the TCF1 gene encoding hepatocyte nuclear factor-1 alpha show differential expression in the pancreas and define the relationship between mutation position and clinical phenotype in monogenic diabetes

Regulation of apolipoprotein M gene expression by MODY3 gene hepatocyte nuclear factor-1alpha: haploinsufficiency is associated with reduced serum apolipoprotein M levels

Precision diabetes: learning from monogenic diabetes

An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy

Association between the T-381C polymorphism of the brain natriuretic peptide gene and risk of type 2 diabetes in human populations

Homozygous mutations in NEUROD1 are responsible for a novel syndrome of permanent neonatal diabetes and neurological abnormalities

A common variant of the p16(INK4a) genetic region is associated with physical function in older people

Missense glucokinase mutation in maturity–onset diabetes of the young and mutation screening in late–onset diabetes

Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease

GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency

Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study: common genetic variants in GCK and TCF7L2 are associated with fasting and postchallenge glucose levels in pregnancy and with the new consensus definition of gestational diabetes mellitus from

Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations

Urinary C-peptide creatinine ratio is a practical outpatient tool for identifying hepatocyte nuclear factor 1-{alpha}/hepatocyte nuclear factor 4-{alpha} maturity-onset diabetes of the young from long-duration type 1 diabetes

KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features

Mendelian randomization studies do not support a role for raised circulating triglyceride levels influencing type 2 diabetes, glucose levels, or insulin resistance

High-sensitivity CRP discriminates HNF1A-MODY from other subtypes of diabetes

Extreme phenotypic diversity and nonpenetrance in families with theLMNA gene mutation R644C

Recognition and Management of Individuals With Hyperglycemia Because of a Heterozygous Glucokinase Mutation

Minireview: pharmacogenetics and beyond: the interaction of therapeutic response, beta-cell physiology, and genetics in diabetes

No deterioration in glycemic control in HNF-1alpha maturity-onset diabetes of the young following transfer from long-term insulin to sulphonylureas

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

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

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

Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes

High-dose glibenclamide can replace insulin therapy despite transitory diarrhea in early-onset diabetes caused by a novel R201L Kir6.2 mutation

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

Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers

Different genes, different diabetes: lessons from maturity-onset diabetes of the young

tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans

Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients.

Excess mortality and cardiovascular disease in young adults with type 1 diabetes in relation to age at onset: a nationwide, register-based cohort study

Contrasting diabetes phenotypes associated with hepatocyte nuclear factor-1alpha and -1beta mutations