Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing

Differentiation of Mouse Enteric Nervous System Progenitor Cells Is Controlled by Endothelin 3 and Requires Regulation of Ednrb by SOX10 and ZEB2

(2017) Yuli Watanabe et al.   GASTROENTEROLOGY

Correction of Hirschsprung-Associated Mutations in Human Induced Pluripotent Stem Cells Via Clustered Regularly Interspaced Short Palindromic Repeats/Cas9, Restores Neural Crest Cell Function

(2017) Frank Pui-Ling Lai et al.   GASTROENTEROLOGY

Biallelic mutations in human DCC cause developmental split-brain syndrome

(2017) Saumya S Jamuar et al.   NATURE GENETICS

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

(2017) Ashley P L Marsh et al.   NATURE GENETICS

Robust and rapid algorithms facilitate large-scale whole genome sequencing downstream analysis in an integrative framework

(2017) Miaoxin Li et al.   NUCLEIC ACIDS RESEARCH

Enteric nervous system development: A crest cell’s journey from neural tube to colon

(2017) Nandor Nagy et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Seeksv: an accurate tool for somatic structural variation and virus integration detection

(2016) Ying Liang et al.   BIOINFORMATICS

Deriving human ENS lineages for cell therapy and drug discovery in Hirschsprung disease

(2016) Faranak Fattahi et al.   NATURE

The STRING database in 2017: quality-controlled protein–protein association networks, made broadly accessible

(2016) Damian Szklarczyk et al.   NUCLEIC ACIDS RESEARCH

Functional Loss of Semaphorin 3C and/or Semaphorin 3D and Their Epistatic Interaction with Ret Are Critical to Hirschsprung Disease Liability

(2015) Qian Jiang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A collagen VI–dependent pathogenic mechanism for Hirschsprung’s disease

(2015) Rodolphe Soret et al.   JOURNAL OF CLINICAL INVESTIGATION

Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR

(2015) Hui Yang et al.   Nature Protocols

Novel function discovery with GeneMANIA: a new integrated resource for gene function prediction in Escherichia coli

(2014) James Vlasblom et al.   BIOINFORMATICS

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

A framework for the interpretation of de novo mutation in human disease

(2014) Kaitlin E Samocha et al.   NATURE GENETICS

LUMPY: a probabilistic framework for structural variant discovery

(2014) Ryan M Layer et al.   GENOME BIOLOGY

The Database of Genomic Variants: a curated collection of structural variation in the human genome

(2013) Jeffrey R. MacDonald et al.   NUCLEIC ACIDS RESEARCH

Retinoic Acid Upregulates Ret and Induces Chain Migration and Population Expansion in Vagal Neural Crest Cells to Colonise the Embryonic Gut

(2013) Johanna E. Simkin et al.   PLoS One

DELLY: structural variant discovery by integrated paired-end and split-read analysis

(2012) T. Rausch et al.   BIOINFORMATICS

The enteric nervous system

(2012) Valentina Sasselli et al.   DEVELOPMENTAL BIOLOGY

Human-Specific Transcriptional Networks in the Brain

(2012) Genevieve Konopka et al.   NEURON

A Notch1–neuregulin1 autocrine signaling loop contributes to melanoma growth

(2012) K Zhang et al.   ONCOGENE

Genome-Wide Copy Number Analysis Uncovers a New HSCR Gene: NRG3

(2012) Clara Sze-Man Tang et al.   PLoS Genetics

CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

(2011) A. Abyzov et al.   GENOME RESEARCH

Ciliopathies: an expanding disease spectrum

(2011) Aoife M. Waters et al.   PEDIATRIC NEPHROLOGY

Differential Contributions of Rare and Common, Coding and Noncoding Ret Mutations to Multifactorial Hirschsprung Disease Liability

(2010) Eileen Sproat Emison et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

Joubert Syndrome and related disorders

(2010) Francesco Brancati et al.   Orphanet Journal of Rare Diseases

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Genome-wide association study identifiesNRG1as a susceptibility locus for Hirschsprung's disease

(2009) Maria-Mercè Garcia-Barcelo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Retinoic acid regulates murine enteric nervous system precursor proliferation, enhances neuronal precursor differentiation, and reduces neurite growth in vitro

(2008) Yoshiharu Sato et al.   DEVELOPMENTAL BIOLOGY