Residual β cell function and monogenic variants in long-duration type 1 diabetes patients

Beta cells in type 1 diabetes: mass and function; sleeping or dead?

(2019) Richard A. Oram et al.   DIABETOLOGIA

Low Level Insulin Content Within Abundant Non-Beta Islet Endocrine Cells in Long-Standing Type 1 Diabetes

(2018) Carol J. Lam et al.   DIABETES

Proinsulin Secretion Is a Persistent Feature of Type 1 Diabetes

(2018) Emily K. Sims et al.   DIABETES CARE

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

(2016) Nilah M. Ioannidis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Beta cell function and ongoing autoimmunity in long-standing, childhood onset type 1 diabetes

(2016) Georgina M. Williams et al.   DIABETOLOGIA

Increased Hormone-Negative Endocrine Cells in the Pancreas in Type 1 Diabetes

(2016) Abu Saleh Md Moin et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus

(2015) Sabrina Prudente et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cardiovascular Disease Protection in Long-Duration Type 1 Diabetes and Sex Differences

(2015) Zhiheng H. He et al.   DIABETES CARE

Identification of unsuspected Wolfram syndrome cases through clinical assessment and WFS1 gene screening in type 1 diabetes mellitus patients

(2015) Maria E. Blanco-Aguirre et al.   GENE

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

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Assessment of β-Cell Mass and α- and β-Cell Survival and Function by Arginine Stimulation in Human Autologous Islet Recipients

(2014) R. Paul Robertson et al.   DIABETES

Most People With Long-Duration Type 1 Diabetes in a Large Population-Based Study Are Insulin Microsecretors

(2014) Richard A. Oram et al.   DIABETES CARE

Prevalence of Detectable C-Peptide According to Age at Diagnosis and Duration of Type 1 Diabetes

(2014) Asa K. Davis et al.   DIABETES CARE

Insulin secretion measured by stimulated C-peptide in long-established Type 1 diabetes in the Diabetes Control and Complications Trial (DCCT)/ Epidemiology of Diabetes Interventions and Complications (EDIC) cohort: a pilot study

(2014) P. McGee et al.   DIABETIC MEDICINE

Persistence of Prolonged C-peptide Production in Type 1 Diabetes as Measured With an Ultrasensitive C-peptide Assay

(2012) L. Wang et al.   DIABETES CARE

Cost-effective, high-throughput DNA sequencing libraries for multiplexed target capture

(2012) N. Rohland et al.   GENOME RESEARCH

Protection From Retinopathy and Other Complications in Patients With Type 1 Diabetes of Extreme Duration: The Joslin 50-Year Medalist Study

(2011) J. K. Sun et al.   DIABETES CARE

Residual Insulin Production and Pancreatic  -Cell Turnover After 50 Years of Diabetes: Joslin Medalist Study

(2010) H. A. Keenan et al.   DIABETES

Adaptive changes in pancreatic beta cell fractional area and beta cell turnover in human pregnancy

(2010) A. E. Butler et al.   DIABETOLOGIA

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Conversion of adult pancreatic α-cells to β-cells after extreme β-cell loss

(2010) Fabrizio Thorel et al.   NATURE

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Pregnancy-Induced Rise in Serum C-Peptide Concentrations in Women With Type 1 Diabetes

(2009) L. R. Nielsen et al.   DIABETES CARE

Preservation of  -Cell Function in Autoantibody-Positive Youth With Diabetes

(2009) C. J. Greenbaum et al.   DIABETES CARE

Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes

(2009) Janniche Torsvik et al.   HUMAN GENETICS

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

Mutations in the Insulin Gene Can Cause MODY and Autoantibody-Negative Type 1 Diabetes

(2008) A. Molven et al.   DIABETES