Gene-Specific Function Prediction for Non-Synonymous Mutations in Monogenic Diabetes Genes

Predicting the functional consequences of cancer-associated amino acid substitutions

(2013) Hashem A. Shihab et al.   BIOINFORMATICS

Collective judgment predicts disease-associated single nucleotide variants

(2013) Emidio Capriotti et al.   BMC GENOMICS

dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations

(2013) Xiaoming Liu et al.   HUMAN MUTATION

Prediction of Disease Causing Non-Synonymous SNPs by the Artificial Neural Network Predictor NetDiseaseSNP

(2013) Morten Bo Johansen et al.   PLoS One

The development and validation of a clinical prediction model to determine the probability of MODY in patients with young-onset diabetes

(2012) B. M. Shields et al.   DIABETOLOGIA

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

(2012) Wenqing Fu et al.   NATURE

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

(2012)   NATURE

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel

(2011) Abel González-Pérez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Performance of mutation pathogenicity prediction methods on missense variants

(2011) Janita Thusberg et al.   HUMAN MUTATION

dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions

(2011) Xiaoming Liu et al.   HUMAN MUTATION

Predicting the functional impact of protein mutations: application to cancer genomics

(2011) Boris Reva et al.   NUCLEIC ACIDS RESEARCH

The Definition of Insulin Resistance Using HOMA-IR for Americans of Mexican Descent Using Machine Learning

(2011) Hui-Qi Qu et al.   PLoS One

Phenotype Prediction of Non-Synonymous Single-Nucleotide Polymorphisms in Human ATP-Binding Cassette Transporter Genes

(2010) Lin-Lin Wang et al.   BASIC & CLINICAL PHARMACOLOGY & TOXICOLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11

(2010) Emma L. Edghill et al.   REVIEWS IN ENDOCRINE & METABOLIC DISORDERS

Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

(2010) Eugene V. Davydov et al.   PLoS Computational Biology

Identifying novel constrained elements by exploiting biased substitution patterns

(2009) Manuel Garber et al.   BIOINFORMATICS

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

(2009) M. Shepherd et al.   DIABETIC MEDICINE

Identification of deleterious mutations within three human genomes

(2009) S. Chun et al.   GENOME RESEARCH

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods

(2009) Janita Thusberg et al.   HUMAN MUTATION

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

(2009) M. Borowiec et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Long-Term Follow-Up of Oral Glucose Tolerance Test-Derived Glucose Tolerance and Insulin Secretion and Insulin Sensitivity Indexes in Subjects With Glucokinase Mutations (MODY2)

(2008) D. Martin et al.   DIABETES CARE

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

(2008) S. Ellard et al.   DIABETOLOGIA