| 1 |
Large-scale discovery of novel genetic causes of developmental disorders.
24
|
Deciphering Developmental Disorders Study
|
25533962 |
2015 |
| 2 |
Synaptic, transcriptional and chromatin genes disrupted in autism.
24
|
De Rubeis S...Buxbaum JD
|
25363760 |
2014 |
| 3 |
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
24
|
Coe BP...Eichler EE
|
25217958 |
2014 |
| 4 |
Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein.
24
|
Pescosolido MF...Morrow EM
|
25057125 |
2014 |
| 5 |
The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.
24
|
Vandeweyer G...Kooy RF
|
25169753 |
2014 |
| 6 |
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.
24
|
Helsmoortel C...Van der Aa N
|
24531329 |
2014 |
| 7 |
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
24
|
O'Roak BJ...Shendure J
|
23160955 |
2012 |
| 8 |
Activity-dependent neuroprotective protein snippet NAP reduces tau hyperphosphorylation and enhances learning in a novel transgenic mouse model.
24
|
Vulih-Shultzman I...Gozes I
|
17720885 |
2007 |
| 9 |
Complete sequence of a novel protein containing a femtomolar-activity-dependent neuroprotective peptide.
24
|
Bassan M...Gozes I
|
10037502 |
1999 |
| 10 |
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.
61
|
Van Dijck A...Kooy RF
|
29724491 |
2019 |
| 11 |
A heterozygous microdeletion of 20q13.13 encompassing ADNP gene in a child with Helsmoortel-van der Aa syndrome.
61
|
Huynh MT...Vincent-Delorme C
|
29899371 |
2018 |
| 12 |
Longitudinal ophthalmic findings in a child with Helsmoortel-Van der Aa Syndrome.
61
|
Gale MJ...Yang P
|
29780943 |
2018 |
| 13 |
Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement.
61
|
Pascolini G...Digilio MC
|
29475819 |
2018 |
| 14 |
Activity-dependent neuroprotective protein recruits HP1 and CHD4 to control lineage-specifying genes.
61
|
Ostapcuk V...Buhler M
|
29795351 |
2018 |
| 15 |
Mutations in ADNP affect expression and subcellular localization of the protein.
61
|
Cappuyns E...Kooy RF
|
29911927 |
2018 |
| 16 |
Prenatal diagnosis of complex phenotype in a 13-week-old fetus with an interstitial multigene deletion 20q13.13.-q13.2 by chromosomal microarray.
61
|
Stipoljev F...Gjergja-Juraski R
|
28807863 |
2017 |
| 17 |
Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene.
61
|
Takenouchi T...Kosaki K
|
28407407 |
2017 |
| 18 |
Sexual divergence in activity-dependent neuroprotective protein impacting autism, schizophrenia, and Alzheimer's disease.
61
|
Gozes I
|
27870441 |
2017 |
| 19 |
Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene.
61
|
Krajewska-Walasek M...Ciara E
|
27031564 |
2016 |
| 20 |
ADNP-Related Intellectual Disability and Autism Spectrum Disorder
61
|
Van Dijck A...Kooy F
|
27054228 |
2016 |
