An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy

The ratio of visceral to subcutaneous fat, a metric of body fat distribution, is a unique correlate of cardiometabolic risk

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

DNA polymerase delta in dna replication and genome maintenance

(2012) Marc J. Prindle et al.   ENVIRONMENTAL AND MOLECULAR MUTAGENESIS

The Werner Syndrome Exonuclease Facilitates DNA Degradation and High Fidelity DNA Polymerization by Human DNA Polymerase δ

(2012) Ashwini S. Kamath-Loeb et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

(2012) Claire Palles et al.   NATURE GENETICS

Genetic Syndromes of Severe Insulin Resistance

(2011) Robert K. Semple et al.   ENDOCRINE REVIEWS

Perilipin Deficiency and Autosomal Dominant Partial Lipodystrophy

(2011) Sheetal Gandotra et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2010) A. McKenna et al.   GENOME RESEARCH

Active Site Mutations in Mammalian DNA Polymerase δ Alter Accuracy and Replication Fork Progression

(2010) Michael W. Schmitt et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A Novel Syndrome of Mandibular Hypoplasia, Deafness, and Progeroid Features Associated with Lipodystrophy, Undescended Testes, and Male Hypogonadism

(2010) Savitha Shastry et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Maintaining genome stability at the replication fork

(2010) Dana Branzei et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Comprehensive Human Adipose Tissue mRNA and MicroRNA Endogenous Control Selection for Quantitative Real-Time-PCR Normalization

(2010) Matt J. Neville et al.   Obesity

High fidelity and lesion bypass capability of human DNA polymerase δ

(2009) Michael W. Schmitt et al.   BIOCHIMIE

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Mouse models of inherited lipodystrophy

(2009) D. B. Savage   Disease Models & Mechanisms

Structural basis of high-fidelity DNA synthesis by yeast DNA polymerase δ

(2009) Michael K Swan et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Proofreading exonuclease activity of human DNA polymerase δ and its effects on lesion-bypass DNA synthesis

(2009) Ruzaliya Fazlieva et al.   NUCLEIC ACIDS RESEARCH

DNA Polymerase δ Is Required for Early Mammalian Embryogenesis

(2009) Arikuni Uchimura et al.   PLoS One

Reduced Levels of DNA Polymerase   Induce Chromosome Fragile Site Instability in Yeast

(2008) F. J. Lemoine et al.   MOLECULAR AND CELLULAR BIOLOGY

Adipose tissue transcriptomic signature highlights the pathological relevance of extracellular matrix in human obesity

(2008) Corneliu Henegar et al.   GENOME BIOLOGY