NRG1 variant effects in patients with Hirschsprung disease

The impact of down-regulated SK3 expressions on Hirschsprung disease

(2018) Gunadi et al.   BMC Medical Genetics

Comparison of Hirschsprung-associated enterocolitis following Soave and Duhamel procedures

(2018) Isidora Galuh Parahita et al.   JOURNAL OF PEDIATRIC SURGERY

Sources of discordance among germ-line variant classifications in ClinVar

(2017) Shan Yang et al.   GENETICS IN MEDICINE

The utility of the hematoxylin and eosin staining in patients with suspected Hirschsprung disease

(2017) Josephine Amanda Setiadi et al.   BMC Surgery

Effects of RET, NRG1 and NRG3 Polymorphisms in a Chinese Population with Hirschsprung Disease

(2017) Dehua Yang et al.   Scientific Reports

Effects of NRG1 Polymorphisms on Hirschsprung’s Disease Susceptibility: A Meta-analysis

(2017) Meng Jiang et al.   Scientific Reports

Accuracy of polymerase chain reaction-restriction fragment length polymorphism for RET rs2435357 genotyping as Hirschsprung risk

(2016) Gunadi et al.   JOURNAL OF SURGICAL RESEARCH

Effects of SEMA3 polymorphisms in Hirschsprung disease patients

(2016) Gunadi et al.   PEDIATRIC SURGERY INTERNATIONAL

Population variation in total genetic risk of Hirschsprung disease from common RET, SEMA3 and NRG1 susceptibility polymorphisms

(2015) Ashish Kapoor et al.   HUMAN MOLECULAR GENETICS

Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

(2015) C. Dong et al.   HUMAN MOLECULAR GENETICS

Natural Selection and Functional Potentials of Human Noncoding Elements Revealed by Analysis of Next Generation Sequencing Data

(2015) Pankaj Jha et al.   PLoS One

Effects of RET and NRG1 polymorphisms in Indonesian patients with Hirschsprung disease

(2014) Gunadi et al.   JOURNAL OF PEDIATRIC SURGERY

Variability in pathogenicity prediction programs: impact on clinical diagnostics

(2014) Lauren C. Walters-Sen et al.   Molecular Genetics & Genomic Medicine

Contribution of rare and common variants determine complex diseases—Hirschsprung disease as a model

(2013) Maria M. Alves et al.   DEVELOPMENTAL BIOLOGY

RET and NRG1 interplay in Hirschsprung disease

(2013) Hongsheng Gui et al.   HUMAN GENETICS

Association of genetic polymorphisms in the RET-protooncogene and NRG1 with Hirschsprung disease in Thai patients

(2012) Theerawut Phusantisampan et al.   JOURNAL OF HUMAN GENETICS

Comprehensive Analysis of NRG1 Common and Rare Variants in Hirschsprung Patients

(2012) Berta Luzón-Toro et al.   PLoS One

Mutations in the NRG1 gene are associated with Hirschsprung disease

(2011) Clara Sze-Man Tang et al.   HUMAN GENETICS

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

Two Novel Mutations in the ED1 Gene in Japanese Families With X-Linked Hypohidrotic Ectodermal Dysplasia

(2009) Gunadi et al.   PEDIATRIC RESEARCH

Genetic basis of Hirschsprung’s disease

(2009) Paul K. H. Tam et al.   PEDIATRIC SURGERY INTERNATIONAL

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