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Congenital gastrointestinal and neural anomalies

TopicLeading institutions, researchers & key papers

Congenital gastrointestinal and neural anomalies is a topic indexed in ScholarIQ from OpenAlex.

What is known about Congenital gastrointestinal and neural anomalies?

ScholarIQrecord summary

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.

How many works does Congenital gastrointestinal and neural anomalies have?

ScholarIQindexed works

Congenital gastrointestinal and neural anomalies has 125 works in the ScholarIQ index. The count is the OpenAlex total, not the number of papers listed on this page.

What is the OpenAlex record for Congenital gastrointestinal and neural anomalies?

ScholarIQopenalex

The OpenAlex for Congenital gastrointestinal and neural anomalies is on the source record.

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
Nature Genetics. 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

Where is Congenital gastrointestinal and neural anomalies research published, and who funds it?

ScholarIQvenues & funding sources

TOP FUNDERS

National Science Foundation—
NIH—
Wellcome Trust—
European Research Council—
Funder breakdown is a member featureSign up free to unlock

How much of the research on Congenital gastrointestinal and neural anomalies is open access?

ScholarIQopen access share
27%OPEN ACCESS
Gold
7%
Green
7%
Hybrid
7%
Bronze
7%
Closed
73%

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