Effect of semaphorin 3C gene variants in multifactorial Hirschsprung disease

Aberrant Expressions and Variant Screening of SEMA3D in Indonesian Hirschsprung Patients

(2020) Gunadi et al.   Frontiers in Pediatrics

Molecular Genetic Anatomy and Risk Profile of Hirschsprung’s Disease

(2019) Joseph M. Tilghman et al.   NEW ENGLAND JOURNAL OF MEDICINE

“Too much guts and not enough brains”: (epi)genetic mechanisms and future therapies of Hirschsprung disease — a review

(2019) Emilie G. Jaroy et al.   Clinical Epigenetics

Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data

(2018) Michael H. Guo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

NRG1 variant effects in patients with Hirschsprung disease

(2018) Gunadi et al.   BMC Pediatrics

Combined Genetic Effects of RET and NRG1 Susceptibility Variants on Multifactorial Hirschsprung Disease in Indonesia

(2018) Gunadi et al.   JOURNAL OF SURGICAL RESEARCH

Cumulative Risk Impact of RET, SEMA3, and NRG1 Polymorphisms Associated With Hirschsprung Disease in Han Chinese

(2017) Qi Li et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

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

(2017) Josephine Amanda Setiadi et al.   BMC Surgery

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Effects of SEMA3 polymorphisms in Hirschsprung disease patients

(2016) Gunadi et al.   PEDIATRIC SURGERY INTERNATIONAL

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

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

Effects ofMTHFRc.677C>T,F2c.20210G>A andF5Leiden Polymorphisms in Gastroschisis

(2015) Akhmad Makhmudi et al.   JOURNAL OF INVESTIGATIVE SURGERY

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

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

Mutational Spectrum of Semaphorin 3A and Semaphorin 3D Genes in Spanish Hirschsprung patients

(2013) Berta Luzón-Toro et al.   PLoS One

Rapid and efficient human mutation detection using a bench-top next-generation DNA sequencer

(2011) Qian Jiang et al.   HUMAN MUTATION

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE