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Genetics and Neurodevelopmental Disorders
TopicLeading institutions, researchers & key papers
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.
420
Works
IDs:OpenAlex
How has Genetics and Neurodevelopmental Disorders's publication output changed over time?
ScholarIQpublication output · 2003–2015
Output grew0% over the shown period — from 1 works in 2003 to 1 in 2015.
1
1
1
2
1
1
2
1
1
1
2003200420062008200920102011201220132015
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
S137905309. 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
S110447773. 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
S134425043. 2003765 CitationsOPEN ACCESS
Where is Genetics and Neurodevelopmental Disorders research published, and who funds it?
ScholarIQvenues & funding sources
TOP JOURNALS
TOP FUNDERS
National Science Foundation—
NIH—
Wellcome Trust—
European Research Council—
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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%
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