175 related articles for article (PubMed ID: 33789662)
1. HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death.
Schön U; Holzer A; Laner A; Kleinle S; Scharf F; Benet-Pagès A; Peschel O; Holinski-Feder E; Diebold I
BMC Med Genomics; 2021 Mar; 14(1):94. PubMed ID: 33789662
[TBL] [Abstract][Full Text] [Related]
2. Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.
Salfati EL; Spencer EG; Topol SE; Muse ED; Rueda M; Lucas JR; Wagner GN; Campman S; Topol EJ; Torkamani A
Genome Med; 2019 Dec; 11(1):83. PubMed ID: 31847883
[TBL] [Abstract][Full Text] [Related]
3. Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder.
Thompson R; Papakonstantinou Ntalis A; Beltran S; Töpf A; de Paula Estephan E; Polavarapu K; 't Hoen PAC; Missier P; Lochmüller H
Hum Mutat; 2019 Oct; 40(10):1797-1812. PubMed ID: 31231902
[TBL] [Abstract][Full Text] [Related]
4. Unveiling a sudden unexplained death case by whole exome sequencing and bioinformatic analysis.
Modena M; Castiglione V; Aretini P; Mazzanti CM; Chiti E; Giannoni A; Emdin M; Di Paolo M
Mol Genet Genomic Med; 2020 Apr; 8(4):e1182. PubMed ID: 32101375
[TBL] [Abstract][Full Text] [Related]
5. Exome Sequencing Highlights a Potential Role for Concealed Cardiomyopathies in Youthful Sudden Cardiac Death.
Neves R; Tester DJ; Simpson MA; Behr ER; Ackerman MJ; Giudicessi JR
Circ Genom Precis Med; 2022 Feb; 15(1):e003497. PubMed ID: 34949102
[TBL] [Abstract][Full Text] [Related]
6. Post-mortem Whole exome sequencing with gene-specific analysis for autopsy-negative sudden unexplained death in the young: a case series.
Narula N; Tester DJ; Paulmichl A; Maleszewski JJ; Ackerman MJ
Pediatr Cardiol; 2015 Apr; 36(4):768-78. PubMed ID: 25500949
[TBL] [Abstract][Full Text] [Related]
7. Post-mortem genetic analysis of sudden unexplained death in a young cohort: a whole-exome sequencing study.
Wang S; Chen Y; Du J; Wang Z; Lin Z; Hong G; Qu D; Shen Y; Li L
Int J Legal Med; 2023 Nov; 137(6):1661-1670. PubMed ID: 37624372
[TBL] [Abstract][Full Text] [Related]
8. An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.
Cipriani V; Pontikos N; Arno G; Sergouniotis PI; Lenassi E; Thawong P; Danis D; Michaelides M; Webster AR; Moore AT; Robinson PN; Jacobsen JOB; Smedley D
Genes (Basel); 2020 Apr; 11(4):. PubMed ID: 32340307
[TBL] [Abstract][Full Text] [Related]
9. Post-mortem whole-exome sequencing (WES) with a focus on cardiac disease-associated genes in five young sudden unexplained death (SUD) cases.
Neubauer J; Haas C; Bartsch C; Medeiros-Domingo A; Berger W
Int J Legal Med; 2016 Jul; 130(4):1011-1021. PubMed ID: 26846766
[TBL] [Abstract][Full Text] [Related]
10. Exome analysis-based molecular autopsy in cases of sudden unexplained death in the young.
Bagnall RD; Das K J; Duflou J; Semsarian C
Heart Rhythm; 2014 Apr; 11(4):655-62. PubMed ID: 24440382
[TBL] [Abstract][Full Text] [Related]
11. Predicting genes from phenotypes using human phenotype ontology (HPO) terms.
Slavotinek A; Prasad H; Yip T; Rego S; Hoban H; Kvale M
Hum Genet; 2022 Nov; 141(11):1749-1760. PubMed ID: 35357580
[TBL] [Abstract][Full Text] [Related]
12. Exome analysis in 34 sudden unexplained death (SUD) victims mainly identified variants in channelopathy-associated genes.
Neubauer J; Lecca MR; Russo G; Bartsch C; Medeiros-Domingo A; Berger W; Haas C
Int J Legal Med; 2018 Jul; 132(4):1057-1065. PubMed ID: 29350269
[TBL] [Abstract][Full Text] [Related]
13. Diagnosis of a Single-Nucleotide Variant in Whole-Exome Sequencing Data for Patients With Inherited Diseases: Machine Learning Study Using Artificial Intelligence Variant Prioritization.
Huang YS; Hsu C; Chune YC; Liao IC; Wang H; Lin YL; Hwu WL; Lee NC; Lai F
JMIR Bioinform Biotechnol; 2022 Sep; 3(1):e37701. PubMed ID: 38935959
[TBL] [Abstract][Full Text] [Related]
14. Evaluation of exome filtering techniques for the analysis of clinically relevant genes.
Kernohan KD; Hartley T; Alirezaie N; ; Robinson PN; Dyment DA; Boycott KM
Hum Mutat; 2018 Feb; 39(2):197-201. PubMed ID: 29193559
[TBL] [Abstract][Full Text] [Related]
15. Importance of Variant Interpretation in Whole-Exome Molecular Autopsy: Population-Based Case Series.
Shanks GW; Tester DJ; Ackerman JP; Simpson MA; Behr ER; White SM; Ackerman MJ
Circulation; 2018 Jun; 137(25):2705-2715. PubMed ID: 29915097
[TBL] [Abstract][Full Text] [Related]
16. Phenotype-Driven Virtual Panel Is an Effective Method to Analyze WES Data of Neurological Disease.
Wang X; Shen X; Fang F; Ding CH; Zhang H; Cao ZH; An DY
Front Pharmacol; 2018; 9():1529. PubMed ID: 30687093
[No Abstract] [Full Text] [Related]
17. Whole exome sequencing of FFPE samples-expanding the horizon of forensic molecular autopsies.
Adolfsson E; Kling D; Gunnarsson C; Jonasson J; Gréen H; Gréen A
Int J Legal Med; 2023 Jul; 137(4):1215-1234. PubMed ID: 36346469
[TBL] [Abstract][Full Text] [Related]
18. Curation and expansion of the Human Phenotype Ontology for systemic autoinflammatory diseases improves phenotype-driven disease-matching.
Maassen W; Legger G; Kul Cinar O; van Daele P; Gattorno M; Bader-Meunier B; Wouters C; Briggs T; Johansson L; van der Velde J; Swertz M; Omoyinmi E; Hoppenreijs E; Belot A; Eleftheriou D; Caorsi R; Aeschlimann F; Boursier G; Brogan P; Haimel M; van Gijn M
Front Immunol; 2023; 14():1215869. PubMed ID: 37781402
[TBL] [Abstract][Full Text] [Related]
19. Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
Shamseldin HE; AlAbdi L; Maddirevula S; Alsaif HS; Alzahrani F; Ewida N; Hashem M; Abdulwahab F; Abuyousef O; Kuwahara H; Gao X; ; Alkuraya FS
Genome Med; 2021 Oct; 13(1):161. PubMed ID: 34645488
[TBL] [Abstract][Full Text] [Related]
20. Individualised human phenotype ontology gene panels improve clinical whole exome and genome sequencing analytical efficacy in a cohort of developmental and epileptic encephalopathies.
Henry OJ; Stödberg T; Båtelson S; Rasi C; Stranneheim H; Wedell A
Mol Genet Genomic Med; 2023 Jul; 11(7):e2167. PubMed ID: 36967109
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
