Search details
1.
Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.
Genet Med
; 21(4): 948-954, 2019 04.
Article
in English
| MEDLINE | ID: mdl-30245514
2.
Lessons learned from the DFNA37 gene discovery odyssey.
Genet Med
; 21(7): 1481-1482, 2019 07.
Article
in English
| MEDLINE | ID: mdl-30531810
3.
Landscape Analysis of Neurodevelopmental Comorbidities in Newborn Screening Conditions: Challenges and Opportunities.
Int J Neonatal Screen
; 10(1)2024 Jan 04.
Article
in English
| MEDLINE | ID: mdl-38248632
4.
Developing a community-led rare disease ELSI research agenda.
Orphanet J Rare Dis
; 19(1): 23, 2024 Jan 22.
Article
in English
| MEDLINE | ID: mdl-38254122
5.
The Relationship between Maternal Antibodies to Fetal Brain and Prenatal Stress Exposure in Autism Spectrum Disorder.
Metabolites
; 13(5)2023 May 16.
Article
in English
| MEDLINE | ID: mdl-37233704
6.
microRNA as a Maternal Marker for Prenatal Stress-Associated ASD, Evidence from a Murine Model.
J Pers Med
; 13(9)2023 Sep 20.
Article
in English
| MEDLINE | ID: mdl-37763179
7.
FEPI-MB: identifying SNPs-disease association using a Markov Blanket-based approach.
BMC Bioinformatics
; 12 Suppl 12: S3, 2011 Nov 24.
Article
in English
| MEDLINE | ID: mdl-22168374
8.
microRNAs and Gene-Environment Interactions in Autism: Effects of Prenatal Maternal Stress and the SERT Gene on Maternal microRNA Expression.
Front Psychiatry
; 12: 668577, 2021.
Article
in English
| MEDLINE | ID: mdl-34290629
9.
The AutGO Initiative: A Conceptual Framework for Developing Genetics-Outcomes Research Hypotheses.
Autism Res
; 13(8): 1286-1299, 2020 08.
Article
in English
| MEDLINE | ID: mdl-32618145
10.
Autism Genetic Database (AGD): a comprehensive database including autism susceptibility gene-CNVs integrated with known noncoding RNAs and fragile sites.
BMC Med Genet
; 10: 102, 2009 Sep 24.
Article
in English
| MEDLINE | ID: mdl-19778453
11.
The potential role of a retrotransposed gene and a long noncoding RNA in regulating an X-linked chromatin gene (KDM5C): Novel epigenetic mechanism in autism.
Autism Res
; 12(7): 1007-1021, 2019 07.
Article
in English
| MEDLINE | ID: mdl-31087518
12.
snoTARGET shows that human orphan snoRNA targets locate close to alternative splice junctions.
Gene
; 408(1-2): 172-9, 2008 Jan 31.
Article
in English
| MEDLINE | ID: mdl-18160232
13.
Building a Bridge Between Genetics and Outcomes Research: Application in Autism (The AutGO Study).
Patient
; 11(4): 451-462, 2018 08.
Article
in English
| MEDLINE | ID: mdl-29508356
14.
Ghrelin, peptide YY and their receptors: gene expression in brain from subjects with and without Prader-Willi syndrome.
Int J Mol Med
; 15(4): 707-11, 2005 Apr.
Article
in English
| MEDLINE | ID: mdl-15754036
15.
Plasma peptide YY and ghrelin levels in infants and children with Prader-Willi syndrome.
J Pediatr Endocrinol Metab
; 17(9): 1177-84, 2004 Sep.
Article
in English
| MEDLINE | ID: mdl-15506676
16.
A proof-of-concept study: exon-level expression profiling and alternative splicing in autism using lymphoblastoid cell lines.
Psychiatr Genet
; 24(1): 1-9, 2014 Feb.
Article
in English
| MEDLINE | ID: mdl-23838881
17.
A Novel Stratification Method in Linkage Studies to Address Inter- and Intra-Family Heterogeneity in Autism.
PLoS One
; 8(6): e67569, 2013.
Article
in English
| MEDLINE | ID: mdl-23840741
18.
Genetic studies of complex human diseases: characterizing SNP-disease associations using Bayesian networks.
BMC Syst Biol
; 6 Suppl 3: S14, 2012.
Article
in English
| MEDLINE | ID: mdl-23281790
19.
Do known mutations in neuroligin genes (NLGN3 and NLGN4) cause autism?
J Autism Dev Disord
; 34(6): 735-6, 2004 Dec.
Article
in English
| MEDLINE | ID: mdl-15679194
20.
Feasibility and relevance of examining lymphoblastoid cell lines to study role of microRNAs in autism.
Autism Res
; 1(4): 240-50, 2008 Aug.
Article
in English
| MEDLINE | ID: mdl-19360674