Congenital gastrointestinal and neural anomalies

TopicLeading institutions, researchers & key papers

This cluster of papers focuses on Hirschsprung disease, a developmental disorder of the enteric nervous system, and its associated syndromes. It covers topics such as genetics, neural crest cells, stem cells, RET gene mutations, GDNF signaling, anorectal malformations, SIP1 mutations, and neuronal differentiation.

125

Works

IDs:OpenAlex

How has Congenital gastrointestinal and neural anomalies's publication output changed over time?

ScholarIQpublication output · 2003–2023

Output grew0% over the shown period — from 1 works in 2003 to 1 in 2023.

2003200520062010201220132015201620202023

What are the most-cited papers on Congenital gastrointestinal and neural anomalies?

ScholarIQmost cited works

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)

Robert M.W. Hofstra, Jan Osinga, Gita Tan-Sindhunata, Ying Wu, Erik-J. Kamsteeg, Rein P. Stulp, Conny M.A. van Ravenswaaij‐Arts, Daniëlle Majoor‐Krakauer, Misha Angrist, Aravinda Chakravarti, Carel Meijers, Charles H.C.M. Buys

S137905309. 1996300 CitationsOPEN ACCESS

Hirschsprung's disease in Japan: analysis of 3852 patients based on a nationwide survey in 30 years

Sachiyo Suita, Tomoaki Taguchi, Satoshi Ieiri, Takanori Nakatsuji

Journal of Pediatric Surgery. 2005185 Citations

ERNICA guidelines for the management of rectosigmoid Hirschsprung’s disease

Kristiina Kyrklund, Cornelius E. J. Sloots, Ivo de Blaauw, Kristin Bjørnland, Udo Rolle, Duccio Cavalieri, Paola Francalanci, Fabio Fusaro, Annette Lemli, Nicole Schwarzer, Francesco Fascetti Leon, Nikhil Thapar, Lars Søndergaard Johansen, Dominique Berrebi, Jean‐Pierre Hugot, Célia Cretolle, Alice S. Brooks, Robert M.W. Hofstra, Tomas Wester, Mikko P. Pakarinen

Orphanet Journal of Rare Diseases. 2020185 CitationsOPEN ACCESS

Bowel Function and Quality of Life After Transanal Endorectal Pull-through for Hirschsprung Disease

Malla I. Neuvonen, Kristiina Kyrklund, Risto Rintala, Mikko P. Pakarinen

Annals of Surgery. 2016175 Citations

Bowel Function and Gastrointestinal Quality of Life Among Adults Operated for Hirschsprung Disease During Childhood

Kristiina Jarvi, Elina Laitakari, Antti Koivusalo, Risto Rintala, Mikko P. Pakarinen

Annals of Surgery. 2010164 Citations