Mutations in the NRG1 gene are associated with Hirschsprung disease

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

Reduced RET expression in gut tissue of individuals carrying risk alleles of Hirschsprung's disease

(2010) Xiaoping Miao et al.   HUMAN MOLECULAR GENETICS

Mammal-restricted elements predispose human RET to folding impairment by HSCR mutations

(2010) Svend Kjær et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Haplotype Analysis Reveals a Possible Founder Effect of RET Mutation R114H for Hirschsprung's Disease in the Chinese Population

(2010) Belinda K. Cornes et al.   PLoS One

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

Discovery of Rare Variants via Sequencing: Implications for the Design of Complex Trait Association Studies

(2009) Bingshan Li et al.   PLoS Genetics

Shifting Paradigm of Association Studies: Value of Rare Single-Nucleotide Polymorphisms

(2008) Ivan P. Gorlov et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Methods for Detecting Associations with Rare Variants for Common Diseases: Application to Analysis of Sequence Data

(2008) Bingshan Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Common and rare variants in multifactorial susceptibility to common diseases

(2008) Walter Bodmer et al.   NATURE GENETICS

Rare independent mutations in renal salt handling genes contribute to blood pressure variation

(2008) Weizhen Ji et al.   NATURE GENETICS

Neuregulin 1 in neural development, synaptic plasticity and schizophrenia

(2008) Lin Mei et al.   NATURE REVIEWS NEUROSCIENCE

Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia

(2008) T. Walsh et al.   SCIENCE

Genetic Mapping in Human Disease

(2008) D. Altshuler et al.   SCIENCE