1 |
De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.
25
|
Lugtenberg D...Vissers LE
|
26757981 |
2016 |
2 |
Analysis of protein-coding genetic variation in 60,706 humans.
25
|
Lek M...Exome Aggregation Consortium
|
27535533 |
2016 |
3 |
A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed in WAC mutations and strengthens the role of WAC in intellectual disability and behavior disorders.
25
|
Abdelhedi F...Dupont JM
|
27119754 |
2016 |
4 |
WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.
25
|
DeSanto C...Shinawi M
|
26264232 |
2015 |
5 |
Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.
25
|
Tammimies K...Fernandez BA
|
26325558 |
2015 |
6 |
Prenatal and postnatal findings in a 10.6 Mb interstitial deletion at 10p11.22-p12.31.
25
|
Sosoi S...Mixich F
|
25652353 |
2015 |
7 |
Large-scale discovery of novel genetic causes of developmental disorders.
25
|
Deciphering Developmental Disorders Study
|
25533962 |
2015 |
8 |
De novo mutations in moderate or severe intellectual disability.
25
|
Hamdan FF...Michaud JL
|
25356899 |
2014 |
9 |
Interstitial 10p11.23-p12.1 microdeletions associated with developmental delay, craniofacial abnormalities, and cryptorchidism.
25
|
Mroczkowski HJ...Yatsenko SA
|
25073539 |
2014 |
10 |
Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion.
25
|
Okamoto N...Inazawa J
|
22258158 |
2012 |
11 |
Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.
25
|
Wentzel C...Thuresson AC
|
21522184 |
2011 |
12 |
WAC, a functional partner of RNF20/40, regulates histone H2B ubiquitination and gene transcription.
25
|
Zhang F...Yu X
|
21329877 |
2011 |
13 |
Pseudoarthrosis of the clavicle and copper beaten skull associated with chromosome 10p11.21p12.1 microdeletion.
25
|
Shahdadpuri R...Reardon W
|
18080323 |
2008 |
14 |
WAC, a novel WW domain-containing adapter with a coiled-coil region, is colocalized with splicing factor SC35.
25
|
Xu GM...Arnaout MA
|
11827461 |
2002 |
15 |
WAC-Related Intellectual Disability
61
|
Varvagiannis K...Vissers LELM
|
29190062 |
2017 |