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。Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus
Sabrina Prudente et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2015)
Rare and Common Genetic Events in Type 2 Diabetes: What Should Biologists Know?
Amelie Bonnefond et al.
CELL METABOLISM (2015)
Therapeutic Challenges in Diabetes Prevention: We Have Not Found the Exercise Pill
S. Srinivasan et al.
CLINICAL PHARMACOLOGY & THERAPEUTICS (2015)
Recognition and Management of Individuals With Hyperglycemia Because of a Heterozygous Glucokinase Mutation
Ali J. Chakera et al.
DIABETES CARE (2015)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Recent advances in understanding the genetic architecture of type 2 diabetes
Karen L. Mohlke et al.
HUMAN MOLECULAR GENETICS (2015)
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data
Caroline F. Wright et al.
LANCET (2015)
Identification of a large set of rare complete human knockouts
Patrick Sulem et al.
NATURE GENETICS (2015)
Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci
Kyle J. Gaulton et al.
NATURE GENETICS (2015)
FTO Obesity Variant Circuitry and Adipocyte Browning in Humans
Melina Claussnitzer et al.
NEW ENGLAND JOURNAL OF MEDICINE (2015)
Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility
Jennifer Wessel et al.
NATURE COMMUNICATIONS (2015)
Identification and Functional Characterization of G6PC2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G6PC2-ABCB11 Locus
Anubha Mahajan et al.
PLOS GENETICS (2015)
Transcript Expression Data from Human Islets Links Regulatory Signals from Genome-Wide Association Studies for Type 2 Diabetes and Glycemic Traits to Their Downstream Effectors
Martijn van de Bunt et al.
PLOS GENETICS (2015)
New insights from monogenic diabetes for common type 2 diabetes
Divya Sri Priyanka Tallapragada et al.
FRONTIERS IN GENETICS (2015)
Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders
Almundher Al-Maawali et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2015)
FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project
Chandree L. Beaulieu et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
Evaluation of a target region capture sequencing platform using monogenic diabetes as a study-model
Rui Gao et al.
BMC GENETICS (2014)
Development and Applications of CRISPR-Cas9 for Genome Engineering
Patrick D. Hsu et al.
CELL (2014)
Leveraging Cross- Species Transcription Factor Binding Site Patterns: From Diabetes Risk Loci to Disease Mechanisms
Melina Claussnitzer et al.
CELL (2014)
Highly Sensitive Diagnosis of 43 Monogenic Forms of Diabetes or Obesity Through One-Step PCR-Based Enrichment in Combination With Next-Generation Sequencing
Amelie Bonnefond et al.
DIABETES CARE (2014)
Prevalence of Vascular Complications Among Patients With Glucokinase Mutations and Prolonged, Mild Hyperglycemia
Anna M. Steele et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2014)
Association of a Low-Frequency Variant in HNF1A With Type 2 Diabetes in a Latino Population
Karol Estrada et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2014)
A Novel Variant in CDKN1C Is Associated With Intrauterine Growth Restriction, Short Stature, and Early-Adulthood-Onset Diabetes
Sarah L. Kerns et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2014)
Genetics of diabetes - Are we missing the genes or the disease?
Leif Groop et al.
MOLECULAR AND CELLULAR ENDOCRINOLOGY (2014)
Pathophysiology and treatment of type 2 diabetes: perspectives on the past, present, and future
Steven E. Kahn et al.
LANCET (2014)
Phenotypic heterogeneity in monogenic diabetes: The clinical and diagnostic utility of a gene panel-based next-generation sequencing approach
G. Alkorta-Aranburu et al.
MOLECULAR GENETICS AND METABOLISM (2014)
Guidelines for investigating causality of sequence variants in human disease
D. G. MacArthur et al.
NATURE (2014)
Obesity-associated variants within FTO form long-range functional connections with IRX3
Scott Smemo et al.
NATURE (2014)
A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes
Ida Moltke et al.
NATURE (2014)
Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes
Valgerdur Steinthorsdottir et al.
NATURE GENETICS (2014)
Pancreatic islet enhancer clusters enriched in type 2 diabetes risk-associated variants
Lorenzo Pasquali et al.
NATURE GENETICS (2014)
Loss-of-function mutations in SLC30A8 protect against type 2 diabetes
Jason Flannick et al.
NATURE GENETICS (2014)
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility
Anubha Mahajan et al.
NATURE GENETICS (2014)
Comprehensive mutational scanning of a kinase in vivo reveals substrate-dependent fitness landscapes
Alexandre Melnikov et al.
NUCLEIC ACIDS RESEARCH (2014)
Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes
Amit R. Majithia et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
A Central Role for GRB10 in Regulation of Islet Function in Man
Inga Prokopenko et al.
PLOS GENETICS (2014)
Whole-Exome Sequencing of 2,000 Danish Individuals and the Role of Rare Coding Variants in Type 2 Diabetes
Kirk E. Lohmueller et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Insights Into the Molecular Mechanism for 2 Diabetes Susceptibility at the KCNQ1 Locus From Temporal Changes in Imprinting Status in Human Islets
Mary E. Travers et al.
DIABETES (2013)
Improved genetic testing for monogenic diabetes using targeted next-generation sequencing
S. Ellard et al.
DIABETOLOGIA (2013)
Prevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry
H. U. Irgens et al.
DIABETOLOGIA (2013)
Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion
Jeroen R. Huyghe et al.
NATURE GENETICS (2013)
Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes
Jason Flannick et al.
NATURE GENETICS (2013)
Evaluating empirical bounds on complex disease genetic architecture
Vineeta Agarwala et al.
NATURE GENETICS (2013)
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
Yaping Yang et al.
NEW ENGLAND JOURNAL OF MEDICINE (2013)
Monogenic Models: What Have the Single Gene Disorders Taught Us?
Tomasz Klupa et al.
CURRENT DIABETES REPORTS (2012)
Taxonomizing, sizing, and overcoming the incidentalome
Isaac S. Kohane et al.
GENETICS IN MEDICINE (2012)
Systematic dissection and optimization of inducible enhancers in human cells using a massively parallel reporter assay
Alexandre Melnikov et al.
NATURE BIOTECHNOLOGY (2012)
Bayesian refinement of association signals for 14 loci in 3 common diseases
Julian B. Maller et al.
NATURE GENETICS (2012)
Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis
Eli A. Stahl et al.
NATURE GENETICS (2012)
Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes
Amelie Bonnefond et al.
NATURE GENETICS (2012)
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes
Andrew P. Morris et al.
NATURE GENETICS (2012)
Exome Sequencing and Genetic Testing for MODY
Stefan Johansson et al.
PLOS ONE (2012)
Whole-Exome Sequencing and High Throughput Genotyping Identified KCNJ11 as the Thirteenth MODY Gene
Amelie Bonnefond et al.
PLOS ONE (2012)
Systematic Localization of Common Disease-Associated Variation in Regulatory DNA
Matthew T. Maurano et al.
SCIENCE (2012)
A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
Daniel G. MacArthur et al.
SCIENCE (2012)
The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits
Benjamin F. Voight et al.
PLOS GENETICS (2012)
Clinical features and treatment of maturity onset diabetes of the young (MODY)
Daphne S. L. Gardner et al.
DIABETES METABOLIC SYNDROME AND OBESITY-TARGETS AND THERAPY (2012)
MODY History, genetics, pathophysiology, and clinical decision making
Stefan S. Fajans et al.
DIABETES CARE (2011)
Heritability and familiality of type 2 diabetes and related quantitative traits in the Botnia Study
P. Almgren et al.
DIABETOLOGIA (2011)
Genetic Syndromes of Severe Insulin Resistance
Robert K. Semple et al.
ENDOCRINE REVIEWS (2011)
Genetic risk prediction in complex disease
Luke Jostins et al.
HUMAN MOLECULAR GENETICS (2011)
Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes
Kerrin S. Small et al.
NATURE GENETICS (2011)
Exome sequencing as a tool for Mendelian disease gene discovery
Michael J. Bamshad et al.
NATURE REVIEWS GENETICS (2011)
Genetic Heterogeneity in Human Disease
Jon McClellan et al.
CELL (2010)
Global Epigenomic Analysis of Primary Human Pancreatic Islets Provides Insights into Type 2 Diabetes Susceptibility Loci
Michael L. Stitzel et al.
CELL METABOLISM (2010)
Spectrum of HNF1B Mutations in a Large Cohort of Patients Who Harbor Renal Diseases
Laurence Heidet et al.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2010)
Homozygous Mutations in NEUROD1 Are Responsible for a Novel Syndrome of Permanent Neonatal Diabetes and Neurological Abnormalities
Oscar Rubio-Cabezas et al.
DIABETES (2010)
Familial Risks for Type 2 Diabetes in Sweden
Kari Hemminki et al.
DIABETES CARE (2010)
Maturity-onset diabetes of the young (MODY): how many cases are we missing?
B. M. Shields et al.
DIABETOLOGIA (2010)
From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus
Kiran Musunuru et al.
NATURE (2010)
Biological, clinical and population relevance of 95 loci for blood lipids
Tanya M. Teslovich et al.
NATURE (2010)
Common SNPs explain a large proportion of the heritability for human height
Jian Yang 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)
Uncovering the roles of rare variants in common disease through whole-genome sequencing
Elizabeth T. Cirulli et al.
NATURE REVIEWS GENETICS (2010)
Molecular Diagnosis of Neonatal Diabetes Mellitus Using Next-Generation Sequencing of the Whole Exome
Amelie Bonnefond et al.
PLOS ONE (2010)
Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3
Anja Ragvin et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Finding the missing heritability of complex diseases
Teri A. Manolio et al.
NATURE (2009)
New susceptibility locus for coronary artery disease on chromosome 3q22.3
Jeanette Erdmann et al.
NATURE GENETICS (2009)
The diagnosis and management of monogenic diabetes in children and adolescents
Andrew Hattersley et al.
PEDIATRIC DIABETES (2009)
Learning From Molecular Genetics Novel Insights Arising From the Definition of Genes for Monogenic and Type 2 Diabetes
Mark I. McCarthy et al.
DIABETES (2008)
Lack of pancreatic body and tail in HNF1B mutation carriers
I. S. Haldorsen et al.
DIABETIC MEDICINE (2008)
Monogenic diabetes in the young, pharmacogenetics and relevance to multifactorial forms of type 2 diabetes
Martine Vaxillaire et al.
ENDOCRINE REVIEWS (2008)
Sequence Variant Classification and Reporting: Recommendations for Improving the Interpretation of Cancer Susceptibility Genetic Test Results
Sharon E. Plon et al.
HUMAN MUTATION (2008)
Genetic Mapping in Human Disease
David Altshuler et al.
SCIENCE (2008)
Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes
Rinki Murphy et al.
NATURE CLINICAL PRACTICE ENDOCRINOLOGY & METABOLISM (2008)
Meta-analysis of 23 type 2 diabetes linkage studies from the international type 2 diabetes linkage analysis consortium
Weihua Guan et al.
HUMAN HEREDITY (2008)
Neonatal diabetes mellitus:: a disease linked to multiple mechanisms
Michel Polak et al.
ORPHANET JOURNAL OF RARE DISEASES (2007)
Analysis of genetic variation in Akt2/PKB-beta in severe insulin resistance, lipodystrophy, type 2 diabetes, and related metabolic phenotypes
Karen Tan et al.
DIABETES (2007)
Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations
Ewan R. Pearson et al.
NEW ENGLAND JOURNAL OF MEDICINE (2006)
Sequence variations in PCSK9, low LDL, and protection against coronary heart disease
JC Cohen et al.
NEW ENGLAND JOURNAL OF MEDICINE (2006)
Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction
H Raeder et al.
NATURE GENETICS (2006)
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes
AL Gloyn et al.
NEW ENGLAND JOURNAL OF MEDICINE (2004)
Control of pancreas and liver gene expression by HNF transcription factors
DT Odom et al.
SCIENCE (2004)
Mitochondrial diabetes - Molecular mechanisms and clinical presentation
JA Maassen et al.
DIABETES (2004)
A family with severe insulin resistance and diabetes due to a mutation in AKT2
S George et al.
SCIENCE (2004)
Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2 -: Patient characteristics and initial response to sulfonylurea therapy
JV Sagen et al.
DIABETES (2004)
Genetic cause of hyperglycaemia and response to treatment in diabetes
ER Pearson et al.
LANCET (2003)
Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history:: A combined analysis of 22 studies
A Antoniou et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Large-scale association studies of variants in genes encoding the pancreatic β-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes
AL Gloyn 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)
A transcription factor regulatory circuit in differentiated pancreatic cells
SF Boj et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2001)
Large upward bias in estimation of locus-specific effects from genomewide scans
HHH Göring et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
On the allelic spectrum of human disease
DE Reich et al.
TRENDS IN GENETICS (2001)
Neonatal diabetes mellitus due to complete glucokinase deficiency.
PR Njolstad et al.
NEW ENGLAND JOURNAL OF MEDICINE (2001)
Sensitivity to sulphonylureas in patients with hepatocyte nuclear factor-1α gene mutations:: evidence for pharmacogenetics in diabetes
ER Pearson et al.
DIABETIC MEDICINE (2000)
Searching for genetic determinants in the new millennium
NJ Risch
NATURE (2000)
分享论文
