相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。The UCSC Genome Browser database: extensions and updates 2013
Laurence R. Meyer et al.
NUCLEIC ACIDS RESEARCH (2013)
Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing
Yali Xue et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Burden of Rare Sarcomere Gene Variants in the Framingham and Jackson Heart Study Cohorts
Alexander G. Bick et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Taxonomizing, sizing, and overcoming the incidentalome
Isaac S. Kohane et al.
GENETICS IN MEDICINE (2012)
GATA6 haploinsufficiency causes pancreatic agenesis in humans
Hana Lango Allen et al.
NATURE GENETICS (2012)
Exome Sequencing and Genetic Testing for MODY
Stefan Johansson et al.
PLOS ONE (2012)
A public resource facilitating clinical use of genomes
Madeleine P. Ball et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2012)
Whole-Genome Sequencing: The New Standard of Care?
Liam R. Brunham et al.
SCIENCE (2012)
A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
Daniel G. MacArthur et al.
SCIENCE (2012)
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
E. L. Edghill et al.
DIABETIC MEDICINE (2011)
A framework for variation discovery and genotyping using next-generation DNA sequencing data
Mark A. DePristo et al.
NATURE GENETICS (2011)
Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
William McLaren et al.
BIOINFORMATICS (2010)
Fast and accurate long-read alignment with Burrows-Wheeler transform
Heng Li et al.
BIOINFORMATICS (2010)
Maturity-onset diabetes of the young (MODY): how many cases are we missing?
B. M. Shields et al.
DIABETOLOGIA (2010)
A map of human genome variation from population-scale sequencing
David Altshuler et al.
NATURE (2010)
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk
Josee Dupuis et al.
NATURE GENETICS (2010)
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis
Benjamin F. Voight et al.
NATURE GENETICS (2010)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
NATURE METHODS (2010)
GENOMIC MEDICINE Genomics, Type 2 Diabetes, and Obesity
Mark I. McCarthy
NEW ENGLAND JOURNAL OF MEDICINE (2010)
A universal carrier test for the long tail of Mendelian disease
Balaji S. Srinivasan et al.
REPRODUCTIVE BIOMEDICINE ONLINE (2010)
Fast and accurate short read alignment with Burrows-Wheeler transform
Heng Li et al.
BIOINFORMATICS (2009)
Update of Mutations in the Genes Encoding the Pancreatic Beta-Cell KATP Channel Subunits Kir6.2 (KCNJ11) and Sulfonylurea Receptor 1 (ABCC8) in Diabetes Mellitus and Hyperinsulinism
Sarah E. Flanagan et al.
HUMAN MUTATION (2009)
10-year follow-up of diabetes incidence and weight loss in the Diabetes Prevention Program Outcomes Study
G. A. Bray et al.
LANCET (2009)
Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing
Andreas Gnirke et al.
NATURE BIOTECHNOLOGY (2009)
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
Prateek Kumar et al.
NATURE PROTOCOLS (2009)
Mutations at the BLK locus linked to maturity onset diabetes of the young and β-cell dysfunction
Maciej Borowiec et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
The Human Gene Mutation Database: 2008 update
Peter D. Stenson et al.
GENOME MEDICINE (2009)
Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes
Anders Molven et al.
DIABETES (2008)
Lack of pancreatic body and tail in HNF1B mutation carriers
I. S. Haldorsen et al.
DIABETIC MEDICINE (2008)
Prevalence of HNF1A (MODY3) mutations in a Norwegian population (the HUNT2 Study)
S. A. Eide et al.
DIABETIC MEDICINE (2008)
Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young
S. Ellard et al.
DIABETOLOGIA (2008)
The A98V Single Nucleotide Polymorphism (SNP) in Hepatic Nuclear Factor 1 α (HNF-1α) is Associated with Insulin Sensitivity and β-Cell Function
A. Bergmann et al.
EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES (2008)
Variation of breast cancer risk among BRCA1/2 carriers
Colin B. Begg et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2008)
Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry
Jorn V. Sagen et al.
PEDIATRIC DIABETES (2008)
Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes
Rinki Murphy et al.
NATURE CLINICAL PRACTICE ENDOCRINOLOGY & METABOLISM (2008)
PLINK: A tool set for whole-genome association and population-based linkage analyses
Shaun Purcell et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
PAX4 mutations in Thais with maturity onset diabetes of the young
Nattachet Plengvidhya et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2007)
Principal components analysis corrects for stratification in genome-wide association studies
Alkes L. Price et al.
NATURE GENETICS (2006)
From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation
Jorn V. Sagen et al.
DIABETES (2006)
A hepatocyte nuclear factor-4α gene (HNF4A) P2 promoter haplotype linked with late-onset diabetes -: Studies of HNF4A variants in the Norwegian MODY registry
Helge Raeder et al.
DIABETES (2006)
Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction
H Raeder et al.
NATURE GENETICS (2006)
Diagnostic screening of NEUROD1 (MODY6) in subjects with MODY or gestational diabetes mellitus
JV Sagen et al.
DIABETIC MEDICINE (2005)
Role of transcription factor KLF11 and its diabetes-associated gene variants in pancreatic beta cell function
B Neve et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
'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
M Shepherd et al.
CLINICAL MEDICINE (2004)
Hepatocyte nuclear factor-1α gene mutations and diabetes in Norway
L Bjorkhaug et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2003)
No deterioration in glycemic control in HNF-1 alpha maturity-onset diabetes of the young following transfer from long term insulin to sulphonylureas
M Shepherd et al.
DIABETES CARE (2003)
Permanent neonatal diabetes caused by glucokinase deficiency - Inborn error of the glucose-insulin signaling pathway
PR Njolstad et al.
DIABETES (2003)
Confounding, ascertainment bias, and the blind quest for a genetic 'fountain of youth'
JD Terwilliger et al.
ANNALS OF MEDICINE (2003)
Reduction in the incidence of type 2 diabetes with lifestyle intervention or metformin
WC Knowler et al.
NEW ENGLAND JOURNAL OF MEDICINE (2002)
Penetrance of 845G→A (C282Y) HFE hereditary haemochromatosis mutation in the USA
E Beutler et al.
LANCET (2002)
The genetic abnormality in the beta cell determines the response to an oral glucose load
A Stride et al.
DIABETOLOGIA (2002)
Large upward bias in estimation of locus-specific effects from genomewide scans
HHH Göring et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Predictive genetic testing in maturity-onset diabetes of the young (MODY)
M Shepherd et al.
DIABETIC MEDICINE (2001)
β-cell genes and diabetes:: Quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-1α and glucokinase mutations
ER Pearson et al.
DIABETES (2001)
Classifying diabetes according to the new WHO clinical stages
E Lindholm et al.
EUROPEAN JOURNAL OF EPIDEMIOLOGY (2001)
Pharmacogenetics and the practice of medicine
AD Roses
NATURE (2000)
Long-term outcome of the Malmo Preventive Project: mortality and cardiovascular morbidity
G Berglund et al.
JOURNAL OF INTERNAL MEDICINE (2000)