1 |
Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly.
25
|
Pengelly RJ...Baralle D
|
27418539 |
2016 |
2 |
Analysis of protein-coding genetic variation in 60,706 humans.
25
|
Lek M...Exome Aggregation Consortium
|
27535533 |
2016 |
3 |
TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.
25
|
Ba W...De Vries BB
|
26721934 |
2016 |
4 |
Timing, rates and spectra of human germline mutation.
25
|
Rahbari R...Hurles ME
|
26656846 |
2016 |
5 |
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
25
|
Richards S...ACMG Laboratory Quality Assurance Committee
|
25741868 |
2015 |
6 |
Large-scale discovery of novel genetic causes of developmental disorders.
25
|
Deciphering Developmental Disorders Study
|
25533962 |
2015 |
7 |
Synaptic, transcriptional and chromatin genes disrupted in autism.
25
|
De Rubeis S...Buxbaum JD
|
25363760 |
2014 |
8 |
The contribution of de novo coding mutations to autism spectrum disorder.
25
|
Iossifov I...Wigler M
|
25363768 |
2014 |
9 |
De novo mutations in epileptic encephalopathies.
25
|
Epi4K Consortium...Winawer MR
|
23934111 |
2013 |
10 |
Rho GTPase signaling at the synapse: implications for intellectual disability.
25
|
Ba W...Nadif Kasri N
|
23769912 |
2013 |
11 |
Diagnostic exome sequencing in persons with severe intellectual disability.
25
|
de Ligt J...Vissers LE
|
23033978 |
2012 |
12 |
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
25
|
Sanders SJ...State MW
|
22495306 |
2012 |
13 |
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
25
|
O'Roak BJ...Eichler EE
|
22495309 |
2012 |
14 |
The role of the Rho GTPases in neuronal development.
25
|
Govek EE...Van Aelst L
|
15630019 |
2005 |
15 |
TRIO-related intellectual disability with microcephaly: a case report of a patient with novel clinical findings.
61
|
Bevilacqua F...Solari AP
|
33038108 |
2021 |
16 |
TRIO-Related Intellectual Disability
61
|
Varvagiannis K...de Vries BBA
|
28796471 |
2017 |