Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis

Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at the PITX1 Locus

(2012) Malte Spielmann et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Human β Cell Transcriptome Analysis Uncovers lncRNAs That Are Tissue-Specific, Dynamically Regulated, and Abnormally Expressed in Type 2 Diabetes

(2012) Ignasi Morán et al.   Cell Metabolism

GATA6 Mutations Cause a Broad Phenotypic Spectrum of Diabetes From Pancreatic Agenesis to Adult-Onset Diabetes Without Exocrine Insufficiency

(2012) E. De Franco et al.   DIABETES

Inhibition of activin/nodal signalling is necessary for pancreatic differentiation of human pluripotent stem cells

(2012) C. H.-H. Cho et al.   DIABETOLOGIA

Ring1b bookmarks genes in pancreatic embryonic progenitors for repression in adult   cells

(2012) J. van Arensbergen et al.   GENES & DEVELOPMENT

Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease

(2012) Scott Smemo et al.   HUMAN MOLECULAR GENETICS

Pancreas-specific deletion of mouse Gata4 and Gata6 causes pancreatic agenesis

(2012) Shouhong Xuan et al.   JOURNAL OF CLINICAL INVESTIGATION

GATA4 and GATA6 control mouse pancreas organogenesis

(2012) Manuel Carrasco et al.   JOURNAL OF CLINICAL INVESTIGATION

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

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

(2012)   NATURE

The UCSC Genome Browser database: extensions and updates 2013

(2012) Laurence R. Meyer et al.   NUCLEIC ACIDS RESEARCH

Systematic Localization of Common Disease-Associated Variation in Regulatory DNA

(2012) M. T. Maurano et al.   SCIENCE

A novel PTF1A mutation in a patient with severe pancreatic and cerebellar involvement

(2011) M Al-Shammari et al.   CLINICAL GENETICS

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

GATA6 haploinsufficiency causes pancreatic agenesis in humans

(2011) Hana Lango Allen et al.   NATURE GENETICS

A Functional Element Necessary for Fetal Hemoglobin Silencing

(2011) Vijay G. Sankaran et al.   NEW ENGLAND JOURNAL OF MEDICINE

An evolutionarily conserved three-dimensional structure in the vertebrate Irx clusters facilitates enhancer sharing and coregulation

(2011) Juan J. Tena et al.   Nature Communications

Robust relationship inference in genome-wide association studies

(2010) Ani Manichaikul et al.   BIOINFORMATICS

Derepression of Polycomb targets during pancreatic organogenesis allows insulin-producing beta-cells to adopt a neural gene activity program

(2010) J. van Arensbergen et al.   GENOME RESEARCH

Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics

(2010) David N. Cooper et al.   HUMAN MUTATION

Simple Combinations of Lineage-Determining Transcription Factors Prime cis-Regulatory Elements Required for Macrophage and B Cell Identities

(2010) Sven Heinz et al.   MOLECULAR CELL

The NIH Roadmap Epigenomics Mapping Consortium

(2010) Bradley E Bernstein et al.   NATURE BIOTECHNOLOGY

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

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

A clustering approach for identification of enriched domains from histone modification ChIP-Seq data

(2009) Chongzhi Zang et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays

(2009) R. Drmanac et al.   SCIENCE

Dynamic regulation of Pdx1 enhancers by Foxa1 and Foxa2 is essential for pancreas development

(2008) N. Gao et al.   GENES & DEVELOPMENT

Model-based Analysis of ChIP-Seq (MACS)

(2008) Yong Zhang et al.   GENOME BIOLOGY