Search details
1.
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.
Cell
; 180(3): 568-584.e23, 2020 02 06.
Article
in English
| MEDLINE | ID: mdl-31981491
2.
A framework for an evidence-based gene list relevant to autism spectrum disorder.
Nat Rev Genet
; 21(6): 367-376, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32317787
3.
Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium.
Hum Mol Genet
; 31(4): 625-637, 2022 02 21.
Article
in English
| MEDLINE | ID: mdl-34559195
4.
Updated consensus guidelines on the management of Phelan-McDermid syndrome.
Am J Med Genet A
; 191(8): 2015-2044, 2023 08.
Article
in English
| MEDLINE | ID: mdl-37392087
5.
Characterization of cornea donors at a tissue center in the city of Medellin, Colombia.
Cell Tissue Bank
; 2023 Dec 23.
Article
in English
| MEDLINE | ID: mdl-38141131
6.
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.
Genet Med
; 24(9): 1899-1908, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35616647
7.
Clinical and neurocognitive issues associated with Bosch-Boonstra-Schaaf optic atrophy syndrome: A case study.
Am J Med Genet A
; 182(1): 213-218, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31729143
8.
Viral vector-mediated Cre recombinase expression in substantia nigra induces lesions of the nigrostriatal pathway associated with perturbations of dopamine-related behaviors and hallmarks of programmed cell death.
J Neurochem
; 150(3): 330-340, 2019 08.
Article
in English
| MEDLINE | ID: mdl-30748001
9.
Patterns and rates of exonic de novo mutations in autism spectrum disorders.
Nature
; 485(7397): 242-5, 2012 Apr 04.
Article
in English
| MEDLINE | ID: mdl-22495311
10.
Network topologies and convergent aetiologies arising from deletions and duplications observed in individuals with autism.
PLoS Genet
; 9(6): e1003523, 2013 Jun.
Article
in English
| MEDLINE | ID: mdl-23754953
11.
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.
Nat Genet
; 39(1): 25-7, 2007 Jan.
Article
in English
| MEDLINE | ID: mdl-17173049
12.
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Nat Genet
; 39(3): 319-28, 2007 Mar.
Article
in English
| MEDLINE | ID: mdl-17322880
13.
The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD.
Am J Med Genet B Neuropsychiatr Genet
; 171B(3): 377-82, 2016 04.
Article
in English
| MEDLINE | ID: mdl-26978485
14.
A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.
Proc Natl Acad Sci U S A
; 109(21): 7974-81, 2012 May 22.
Article
in English
| MEDLINE | ID: mdl-22566635
15.
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
PLoS Genet
; 8(2): e1002521, 2012 Feb.
Article
in English
| MEDLINE | ID: mdl-22346768
16.
Incidence of confusional syndrome (delirium) in a Latin American university hospital.
Rev Colomb Psiquiatr (Engl Ed)
; 2024 Apr 22.
Article
in English, Spanish
| MEDLINE | ID: mdl-38653661
17.
Heterozygous FA2H mutations in autism spectrum disorders.
BMC Med Genet
; 14: 124, 2013 Dec 03.
Article
in English
| MEDLINE | ID: mdl-24299421
18.
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism.
Nat Genet
; 34(1): 27-9, 2003 May.
Article
in English
| MEDLINE | ID: mdl-12669065
19.
Organic cation transporter 2 contributes to SSRI antidepressant efficacy by controlling tryptophan availability in the brain.
Transl Psychiatry
; 13(1): 302, 2023 09 29.
Article
in English
| MEDLINE | ID: mdl-37775532
20.
Network- and attribute-based classifiers can prioritize genes and pathways for autism spectrum disorders and intellectual disability.
Am J Med Genet C Semin Med Genet
; 160C(2): 130-42, 2012 May 15.
Article
in English
| MEDLINE | ID: mdl-22499558