| 1 |
Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly.
4
|
Pengelly RJ...Baralle D
|
27418539
|
2016 |
| 2 |
Analysis of protein-coding genetic variation in 60,706 humans.
4
|
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.
4
|
Ba W...De Vries BB
|
26721934
|
2016 |
| 4 |
Timing, rates and spectra of human germline mutation.
4
|
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.
4
|
Richards S...ACMG Laboratory Quality Assurance Committee
|
25741868
|
2015 |
| 6 |
Large-scale discovery of novel genetic causes of developmental disorders.
4
|
Deciphering Developmental Disorders Study
|
25533962
|
2015 |
| 7 |
Synaptic, transcriptional and chromatin genes disrupted in autism.
4
|
De Rubeis S...Buxbaum JD
|
25363760
|
2014 |
| 8 |
The contribution of de novo coding mutations to autism spectrum disorder.
4
|
Iossifov I...Wigler M
|
25363768
|
2014 |
| 9 |
De novo mutations in epileptic encephalopathies.
4
|
Epi4K Consortium...Winawer MR
|
23934111
|
2013 |
| 10 |
Rho GTPase signaling at the synapse: implications for intellectual disability.
4
|
Ba W...Nadif Kasri N
|
23769912
|
2013 |
| 11 |
Diagnostic exome sequencing in persons with severe intellectual disability.
4
|
de Ligt J...Vissers LE
|
23033978
|
2012 |
| 12 |
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
4
|
Sanders SJ...State MW
|
22495306
|
2012 |
| 13 |
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
4
|
O'Roak BJ...Eichler EE
|
22495309
|
2012 |
| 14 |
The role of the Rho GTPases in neuronal development.
4
|
Govek EE...Van Aelst L
|
15630019
|
2005 |
| 15 |
TRIO-Related Intellectual Disability
38
|
Varvagiannis K...de Vries BBA
|
28796471
|
2017 |
