Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes (Q33734037)

29 July 2017

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

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Stacey Gabriel

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29 July 2017

Christopher Newton-Cheh

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Christopher Newton-Cheh

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Stefan Johansson

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Pål R Njølstad

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Pål R Njølstad

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Anders Molven

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Sekar Kathiresan

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James B Meigs

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Valeriya Lyssenko

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Leif Groop

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David R Cox

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J G Seidman

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Christine E Seidman

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James G Wilson

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Joel N Hirschhorn

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Alexander G Bick

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Jason Flannick

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Namrata Gupta

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Herman Taylor

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Christopher J O'Donnell

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Christopher J O'Donnell

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Nicola L Beer

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Frank Burslem

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M Julia Brosnan

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Jeff K Trimmer

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Tim Rolph

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Janne Molnes

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Vineeta Agarwala

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Noël P Burtt

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Jose C Florez

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Henrik Irgens

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Ervin Fox

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language of work or name

English

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publication date

6 October 2013

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1380-1385

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https://scigraph.springernature.com/pub.10.1038/ng.2794

29 July 2017

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cites work

Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts

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A public resource facilitating clinical use of genomes

28 July 2018

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Exome sequencing and genetic testing for MODY.

28 July 2018

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A systematic survey of loss-of-function variants in human protein-coding genes

28 July 2018

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Taxonomizing, sizing, and overcoming the incidentalome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

Sequencing PDX1 (insulin promoter factor 1) in 1788 UK individuals found 5% had a low frequency coding variant, but these variants are not associated with Type 2 diabetes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

Role of molecular genetics in transforming diagnosis of diabetes mellitus

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

Genomics, type 2 diabetes, and obesity

28 July 2018

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A map of human genome variation from population-scale sequencing

28 July 2018

1 reference

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Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

A method and server for predicting damaging missense mutations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

Fast and accurate long-read alignment with Burrows-Wheeler transform

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

10-year follow-up of diabetes incidence and weight loss in the Diabetes Prevention Program Outcomes Study

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunction

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

Fast and accurate short read alignment with Burrows-Wheeler transform

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

Variation of breast cancer risk among BRCA1/2 carriers

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

PLINK: a tool set for whole-genome association and population-based linkage analyses

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

Principal components analysis corrects for stratification in genome-wide association studies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

Role of transcription factor KLF11 and its diabetes-associated gene variants in pancreatic beta cell function

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

Confounding, ascertainment bias, and the blind quest for a genetic 'fountain of youth'.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

Chemistry of insulin; determination of the structure of insulin opens the way to greater understanding of life processes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

Reduction in the Incidence of Type 2 Diabetes with Lifestyle Intervention or Metformin

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

Large upward bias in estimation of locus-specific effects from genomewide scans

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

Predictive genetic testing in maturity-onset diabetes of the young (MODY).

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

Pharmacogenetics and the practice of medicine

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

Long-term outcome of the Malmö preventive project: mortality and cardiovascular morbidity

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1)

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3)

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

Metabolic consequences of a family history of NIDDM (the Botnia study): evidence for sex-specific parental effects.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

Altered insulin secretory responses to glucose in diabetic and nondiabetic subjects with mutations in the diabetes susceptibility gene MODY3 on chromosome 12.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

The NEUROD gene maps to human chromosome 2q32 and mouse chromosome 2

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

Cloning and sequencing of cDNAs encoding the human hepatocyte nuclear factor 4 indicate the presence of two isoforms in human liver

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

Characterization of somatostatin transactivating factor-1, a novel homeobox factor that stimulates somatostatin expression in pancreatic islet cells

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

Mild familial diabetes with dominant inheritance

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

Mapping of the gene TCF2 coding for the transcription factor LFB3 to human chromosome 17 by polymerase chain reaction

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

Cloning of human hepatic nuclear factor 1 (HNF1) and chromosomal localization of its gene in man and mouse

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

Linkage of type 2 diabetes to the glucokinase gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

Shattuck lecture--medical and societal consequences of the Human Genome Project.

28 July 2018

1 reference

On the use of familial aggregation in population-based case probands for calculating penetrance.

21 January 2018

1 reference

Overview of the Jackson Heart Study: a study of cardiovascular diseases in African American men and women

21 January 2018

1 reference

Prevalence ofHNF1A(MODY3) mutations in a Norwegian population (the HUNT2 Study)

21 January 2018

1 reference

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

21 January 2018

1 reference

'I don't feel like a diabetic any more': the impact of stopping insulin in patients with maturity onset diabetes of the young following genetic testing

21 January 2018

1 reference

Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes.

21 January 2018

1 reference

PAX4 mutations in Thais with maturity onset diabetes of the young

21 January 2018

1 reference

The Human Gene Mutation Database: 2008 update

21 January 2018

1 reference

Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing

21 January 2018

1 reference

GATA6 haploinsufficiency causes pancreatic agenesis in humans

21 January 2018

1 reference

Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young

21 January 2018

1 reference

beta-cell genes and diabetes: quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-1alpha and glucokinase mutations

21 January 2018

1 reference

The genetic abnormality in the beta cell determines the response to an oral glucose load

21 January 2018

1 reference

The A98V single nucleotide polymorphism (SNP) in hepatic nuclear factor 1 alpha (HNF-1alpha) is associated with insulin sensitivity and beta-cell function

21 January 2018

1 reference

Characterization of somatostatin transactivating factor-1, a novel homeobox factor that stimulates somatostatin expression in pancreatic islet cells

21 January 2018

1 reference

A framework for variation discovery and genotyping using next-generation DNA sequencing data

21 January 2018

1 reference

The UCSC Genome Browser database: extensions and updates 2013.

21 January 2018

1 reference

Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway

21 January 2018

1 reference

Diagnostic screening of NEUROD1 (MODY6) in subjects with MODY or gestational diabetes mellitus

21 January 2018

1 reference

A hepatocyte nuclear factor-4 alpha gene (HNF4A) P2 promoter haplotype linked with late-onset diabetes: studies of HNF4A variants in the Norwegian MODY registry

21 January 2018

1 reference

Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry

21 January 2018

1 reference

The DNA dilemma: a test that could change your life.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

Medicine. Whole-genome sequencing: the new standard of care?

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

Genetics: an explosion of knowledge is transforming clinical practice.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

Classifying diabetes according to the new WHO clinical stages

30 October 2018

1 reference

Whole-Genome Sequencing: The New Standard of Care?

21 January 2018

1 reference

Maturity-onset diabetes of the young (MODY): how many cases are we missing?

21 January 2018

1 reference

Power in the phenotypic extremes: a simulation study of power in discovery and replication of rare variants

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051627

A universal carrier test for the long tail of Mendelian disease

30 October 2018

1 reference

12 December 2020

Lack of pancreatic body and tail in HNF1B mutation carriers

1 reference

12 December 2020

Liver and kidney function in Japanese patients with maturity-onset diabetes of the young

1 reference

12 December 2020

Early-onset type-II diabetes mellitus (MODY4) linked to IPF1

1 reference

12 December 2020

An investigation of coronary heart disease in families. The Framingham offspring study

1 reference

12 December 2020

A Difference Between the Inheritance of Classical Juvenile-onset and Maturity-onset Type Diabetes of Young People

1 reference

12 December 2020

Hepatocyte nuclear factor-1 alpha gene mutations and diabetes in Norway

1 reference

12 December 2020

From Clinicogenetic Studies of Maturity-Onset Diabetes of the Young to Unraveling Complex Mechanisms of Glucokinase Regulation

1 reference

12 December 2020

Is maturity onset diabetes at young age (MODY) more common in Europe than previously assumed?

1 reference

12 December 2020

Epidemiological approaches to heart disease: the Framingham Study

1 reference

12 December 2020

Identifiers

DOI

10.1038/NG.2794

1 reference

Dimensions Publication ID

29 July 2017

0 references

1 reference

29 July 2017

1 reference