Similar articles for PMID: 29431110

Year	Number of Results
2003	1
2004	1
2008	1
2009	2
2010	3
2011	5
2012	11
2013	8
2014	9
2015	7
2016	7
2017	11
2018	22
2019	15
2020	21
2021	12
2022	2

1

The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.

Reuter MS, Walker S, Thiruvahindrapuram B, Whitney J, Cohn I, Sondheimer N, Yuen RKC, Trost B, Paton TA, Pereira SL, Herbrick JA, Wintle RF, Merico D, Howe J, MacDonald JR, Lu C, Nalpathamkalam T, Sung WWL, Wang Z, Patel RV, Pellecchia G, Wei J, Strug LJ, Bell S, Kellam B, Mahtani MM, Bassett AS, Bombard Y, Weksberg R, Shuman C, Cohn RD, Stavropoulos DJ, Bowdin S, Hildebrandt MR, Wei W, Romm A, Pasceri P, Ellis J, Ray P, Meyn MS, Monfared N, Hosseini SM, Joseph-George AM, Keeley FW, Cook RA, Fiume M, Lee HC, Marshall CR, Davies J, Hazell A, Buchanan JA, Szego MJ, Scherer SW. Reuter MS, et al. CMAJ. 2018 Feb 5;190(5):E126-E136. doi: 10.1503/cmaj.171151. CMAJ. 2018. PMID: 29431110 Free PMC article.

2

Genomic Analysis in the Age of Human Genome Sequencing.

Lappalainen T, Scott AJ, Brandt M, Hall IM. Lappalainen T, et al. Cell. 2019 Mar 21;177(1):70-84. doi: 10.1016/j.cell.2019.02.032. Cell. 2019. PMID: 30901550 Free PMC article. Review.

3

Clinical interpretation and implications of whole-genome sequencing.

Dewey FE, Grove ME, Pan C, Goldstein BA, Bernstein JA, Chaib H, Merker JD, Goldfeder RL, Enns GM, David SP, Pakdaman N, Ormond KE, Caleshu C, Kingham K, Klein TE, Whirl-Carrillo M, Sakamoto K, Wheeler MT, Butte AJ, Ford JM, Boxer L, Ioannidis JP, Yeung AC, Altman RB, Assimes TL, Snyder M, Ashley EA, Quertermous T. Dewey FE, et al. JAMA. 2014 Mar 12;311(10):1035-45. doi: 10.1001/jama.2014.1717. JAMA. 2014. PMID: 24618965 Free PMC article.

4

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, Carmichael J, Chitre M, Henderson RHH, Hurst J, MacLaren RE, Murphy E, Paterson J, Rosser E, Thompson DA, Wakeling E, Ouwehand WH, Michaelides M, Moore AT; NIHR-BioResource Rare Diseases Consortium, Webster AR, Raymond FL. Carss KJ, et al. Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29. Am J Hum Genet. 2017. PMID: 28041643 Free PMC article.

5

Detecting Causal Variants in Mendelian Disorders Using Whole-Genome Sequencing.

Hamzeh AR, Andrews TD, Field MA. Hamzeh AR, et al. Methods Mol Biol. 2021;2243:1-25. doi: 10.1007/978-1-0716-1103-6_1. Methods Mol Biol. 2021. PMID: 33606250 Review.

6

A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients.

Cirino AL, Lakdawala NK, McDonough B, Conner L, Adler D, Weinfeld M, O'Gara P, Rehm HL, Machini K, Lebo M, Blout C, Green RC, MacRae CA, Seidman CE, Ho CY; MedSeq Project*. Cirino AL, et al. Circ Cardiovasc Genet. 2017 Oct;10(5):e001768. doi: 10.1161/CIRCGENETICS.117.001768. Circ Cardiovasc Genet. 2017. PMID: 29030401 Free PMC article.

7

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL, McCutcheon JN, Kothiyal P, Huddleston KC, Iyer RK, Vockley JG, Niederhuber JE. Bodian DL, et al. PLoS One. 2014 Apr 11;9(4):e94554. doi: 10.1371/journal.pone.0094554. eCollection 2014. PLoS One. 2014. PMID: 24728327 Free PMC article.

8

KoVariome: Korean National Standard Reference Variome database of whole genomes with comprehensive SNV, indel, CNV, and SV analyses.

Kim J, Weber JA, Jho S, Jang J, Jun J, Cho YS, Kim HM, Kim H, Kim Y, Chung O, Kim CG, Lee H, Kim BC, Han K, Koh I, Chae KS, Lee S, Edwards JS, Bhak J. Kim J, et al. Sci Rep. 2018 Apr 4;8(1):5677. doi: 10.1038/s41598-018-23837-x. Sci Rep. 2018. PMID: 29618732 Free PMC article.

9

Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation.

Monies D, Maddirevula S, Kurdi W, Alanazy MH, Alkhalidi H, Al-Owain M, Sulaiman RA, Faqeih E, Goljan E, Ibrahim N, Abdulwahab F, Hashem M, Abouelhoda M, Shaheen R, Arold ST, Alkuraya FS. Monies D, et al. Genet Med. 2017 Oct;19(10):1144-1150. doi: 10.1038/gim.2017.22. Epub 2017 Apr 6. Genet Med. 2017. PMID: 28383543 Free article.

10

Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.

Ceyhan-Birsoy O, Murry JB, Machini K, Lebo MS, Yu TW, Fayer S, Genetti CA, Schwartz TS, Agrawal PB, Parad RB, Holm IA, McGuire AL, Green RC, Rehm HL, Beggs AH; BabySeq Project Team. Ceyhan-Birsoy O, et al. Am J Hum Genet. 2019 Jan 3;104(1):76-93. doi: 10.1016/j.ajhg.2018.11.016. Am J Hum Genet. 2019. PMID: 30609409 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed