176 related articles for article (PubMed ID: 25280750)
1. Clinical interpretation of CNVs with cross-species phenotype data.
Köhler S; Schoeneberg U; Czeschik JC; Doelken SC; Hehir-Kwa JY; Ibn-Salem J; Mungall CJ; Smedley D; Haendel MA; Robinson PN
J Med Genet; 2014 Nov; 51(11):766-772. PubMed ID: 25280750
[TBL] [Abstract][Full Text] [Related]
2. Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish.
Doelken SC; Köhler S; Mungall CJ; Gkoutos GV; Ruef BJ; Smith C; Smedley D; Bauer S; Klopocki E; Schofield PN; Westerfield M; Robinson PN; Lewis SE
Dis Model Mech; 2013 Mar; 6(2):358-72. PubMed ID: 23104991
[TBL] [Abstract][Full Text] [Related]
3. Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability.
Borlot F; Regan BM; Bassett AS; Stavropoulos DJ; Andrade DM
JAMA Neurol; 2017 Nov; 74(11):1301-1311. PubMed ID: 28846756
[TBL] [Abstract][Full Text] [Related]
4. CNVinspector: a web-based tool for the interactive evaluation of copy number variations in single patients and in cohorts.
Knierim E; Schwarz JM; Schuelke M; Seelow D
J Med Genet; 2013 Aug; 50(8):529-33. PubMed ID: 23729504
[TBL] [Abstract][Full Text] [Related]
5. A comprehensive survey of copy number variation in 18 diverse pig populations and identification of candidate copy number variable genes associated with complex traits.
Chen C; Qiao R; Wei R; Guo Y; Ai H; Ma J; Ren J; Huang L
BMC Genomics; 2012 Dec; 13():733. PubMed ID: 23270433
[TBL] [Abstract][Full Text] [Related]
6. Gene discovery and functional assessment of rare copy-number variants in neurodevelopmental disorders.
Iyer J; Girirajan S
Brief Funct Genomics; 2015 Sep; 14(5):315-28. PubMed ID: 25971441
[TBL] [Abstract][Full Text] [Related]
7. Dosage sensitivity is a major determinant of human copy number variant pathogenicity.
Rice AM; McLysaght A
Nat Commun; 2017 Feb; 8():14366. PubMed ID: 28176757
[TBL] [Abstract][Full Text] [Related]
8. Tissue-Specific eQTL in Zebrafish.
Dobrinski KP
Methods Mol Biol; 2020; 2082():239-249. PubMed ID: 31849020
[TBL] [Abstract][Full Text] [Related]
9. Global patterns of apparent copy number variation in birds revealed by cross-species comparative genomic hybridization.
Skinner BM; Al Mutery A; Smith D; Völker M; Hojjat N; Raja S; Trim S; Houde P; Boecklen WJ; Griffin DK
Chromosome Res; 2014 Apr; 22(1):59-70. PubMed ID: 24570127
[TBL] [Abstract][Full Text] [Related]
10. A high-resolution integrated map of copy number polymorphisms within and between breeds of the modern domesticated dog.
Nicholas TJ; Baker C; Eichler EE; Akey JM
BMC Genomics; 2011 Aug; 12():414. PubMed ID: 21846351
[TBL] [Abstract][Full Text] [Related]
11. An evolving view of copy number variants.
Lauer S; Gresham D
Curr Genet; 2019 Dec; 65(6):1287-1295. PubMed ID: 31076843
[TBL] [Abstract][Full Text] [Related]
12. Inter- and intra-breed genome-wide copy number diversity in a large cohort of European equine breeds.
Solé M; Ablondi M; Binzer-Panchal A; Velie BD; Hollfelder N; Buys N; Ducro BJ; François L; Janssens S; Schurink A; Viklund Å; Eriksson S; Isaksson A; Kultima H; Mikko S; Lindgren G
BMC Genomics; 2019 Oct; 20(1):759. PubMed ID: 31640551
[TBL] [Abstract][Full Text] [Related]
13. Ohnologs are overrepresented in pathogenic copy number mutations.
McLysaght A; Makino T; Grayton HM; Tropeano M; Mitchell KJ; Vassos E; Collier DA
Proc Natl Acad Sci U S A; 2014 Jan; 111(1):361-6. PubMed ID: 24368850
[TBL] [Abstract][Full Text] [Related]
14. Genetic architecture of reciprocal CNVs.
Golzio C; Katsanis N
Curr Opin Genet Dev; 2013 Jun; 23(3):240-8. PubMed ID: 23747035
[TBL] [Abstract][Full Text] [Related]
15. Family-Based Benchmarking of Copy Number Variation Detection Software.
Nutsua ME; Fischer A; Nebel A; Hofmann S; Schreiber S; Krawczak M; Nothnagel M
PLoS One; 2015; 10(7):e0133465. PubMed ID: 26197066
[TBL] [Abstract][Full Text] [Related]
16. Evaluation of copy number variation detection for a SNP array platform.
Zhang X; Du R; Li S; Zhang F; Jin L; Wang H
BMC Bioinformatics; 2014 Feb; 15():50. PubMed ID: 24555668
[TBL] [Abstract][Full Text] [Related]
17. CNV-RF Is a Random Forest-Based Copy Number Variation Detection Method Using Next-Generation Sequencing.
Onsongo G; Baughn LB; Bower M; Henzler C; Schomaker M; Silverstein KA; Thyagarajan B
J Mol Diagn; 2016 Nov; 18(6):872-881. PubMed ID: 27597741
[TBL] [Abstract][Full Text] [Related]
18. Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID).
Qiao Y; Mercier E; Dastan J; Hurlburt J; McGillivray B; Chudley AE; Farrell S; Bernier FP; Lewis MS; Pavlidis P; Rajcan-Separovic E
BMC Med Genet; 2014 Jul; 15():82. PubMed ID: 25030379
[TBL] [Abstract][Full Text] [Related]
19. An Evolutionary Perspective on the Impact of Genomic Copy Number Variation on Human Health.
Saitou M; Gokcumen O
J Mol Evol; 2020 Jan; 88(1):104-119. PubMed ID: 31522275
[TBL] [Abstract][Full Text] [Related]
20. Genome-Wide Array Analysis Reveals Novel Genomic Regions and Candidate Gene for Intellectual Disability.
Chen X; Li H; Chen C; Zhou L; Xu X; Xiang Y; Tang S
Mol Diagn Ther; 2018 Dec; 22(6):749-757. PubMed ID: 30259421
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]