On this page:OverviewPublicationsResearchersKey papersJournalsOpen accessInstitutions
ScholarIQanswers from OpenAlex

Genetics and Neurodevelopmental Disorders

TopicLeading institutions, researchers & key papers

Genetics and Neurodevelopmental Disorders is a topic indexed in ScholarIQ from OpenAlex.

What is known about Genetics and Neurodevelopmental Disorders?

ScholarIQrecord summary

This cluster of papers focuses on the molecular basis, genetic mutations, and neurological manifestations of Rett syndrome and related disorders such as Fragile X syndrome. It explores the role of MeCP2, synaptic function, autism-like behaviors, and altered brain development in these conditions.

How many works does Genetics and Neurodevelopmental Disorders have?

ScholarIQindexed works

Genetics and Neurodevelopmental Disorders has 420 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 Genetics and Neurodevelopmental Disorders?

ScholarIQopenalex

The OpenAlex for Genetics and Neurodevelopmental Disorders is on the source record.

What are the most-cited papers on Genetics and Neurodevelopmental Disorders?

ScholarIQmost cited works
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
Christelle M. Durand, Catalina Betancur, Tobias M. Boeckers, Juergen Bockmann, Pauline Chaste, Fabien Fauchereau, Gudrun Nygren, Maria Råstam, I. Carina Gillberg, Henrik Anckarsäter, Eili Sponheim, Hany Goubran‐Botros, Richard Delorme, Nadia Chabane, Marie‐Christine Mouren‐Siméoni, P. De Mas, Éric Bieth, Bernadette Rogé, Delphine Héron, Lydie Bürglen, Christopher Gillberg, Marion Leboyer, Thomas Bourgeron
Nature Genetics. 20061,619 CitationsOPEN ACCESS
Rett syndrome: Revised diagnostic criteria and nomenclature
Jeffrey L. Neul, Walter E. Kaufmann, Daniel G. Glaze, John Christodoulou, Angus Clarke, Nadia Bahi‐Buisson, Helen Leonard, Mark E.S. Bailey, N. Carolyn Schanen, Michele Zappella, Alessandra Renieri, Peter Huppke, Alan K. Percy
Annals of Neurology. 20101,400 CitationsOPEN ACCESS
doublecortin, a Brain-Specific Gene Mutated in Human X-Linked Lissencephaly and Double Cortex Syndrome, Encodes a Putative Signaling Protein
Joseph G. Gleeson, Kristina M. Allen, Jeremy W. Fox, Edward D. Lamperti, Samuel F. Berkovic, Ingrid E. Scheffer, Edward C. Cooper, William B. Dobyns, Sharon Minnerath, M. Elizabeth Ross, Christopher A. Walsh
Cell. 19981,089 CitationsOPEN ACCESS
A developmental and genetic classification for malformations of cortical development: update 2012
A. James Barkovich, Renzo Guerrini, Ruben Kuzniecky, Graeme D. Jackson, William B. Dobyns
Brain. 20121,079 CitationsOPEN ACCESS
Fragile X Premutation Tremor/Ataxia Syndrome: Molecular, Clinical, and Neuroimaging Correlates
Sébastien Jacquemont, Randi J. Hagerman, Maureen A. Leehey, Jim Grigsby, Lin Zhang, James A. Brunberg, Claudia Greco, Vincent des Portes, Tristan Jardini, Richard A. Levine, Elizabeth Berry‐Kravis, W. Ted Brown, S. Schaeffer, John T. Kissel, Flora Tassone, Paul J. Hagerman
The American Journal of Human Genetics. 2003765 CitationsOPEN ACCESS

Where is Genetics and Neurodevelopmental Disorders 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 Genetics and Neurodevelopmental Disorders is open access?

ScholarIQopen access share
87%OPEN ACCESS
Gold
7%
Green
27%
Hybrid
13%
Bronze
40%
Closed
13%

Related on ScholarIQ

470M+ articles · 14-day free trial