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Items: 18

1.

Standard operating procedure for curation and clinical interpretation of variants in cancer.

Danos AM, Krysiak K, Barnell EK, Coffman AC, McMichael JF, Kiwala S, Spies NC, Sheta LM, Pema SP, Kujan L, Clark KA, Wollam AZ, Rao S, Ritter DI, Sonkin D, Raca G, Lin WH, Grisdale CJ, Kim RH, Wagner AH, Madhavan S, Griffith M, Griffith OL.

Genome Med. 2019 Nov 29;11(1):76. doi: 10.1186/s13073-019-0687-x.

2.

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).

Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL; ACMG.

Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.

PMID:
31690835
3.

A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen).

Ritter DI, Rao S, Kulkarni S, Madhavan S, Offit K, Plon SE.

Cold Spring Harb Mol Case Stud. 2019 Oct 23;5(5). pii: a004739. doi: 10.1101/mcs.a004739. Print 2019 Oct.

4.

Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework.

Seifert BA, McGlaughon JL, Jackson SA, Ritter DI, Roberts ME, Schmidt RJ, Thompson BA, Jimenez S, Trapp M, Lee K, Plon SE, Offit K, Stadler ZK, Zhang L, Greenblatt MS, Ferber MJ.

Genet Med. 2019 Jul;21(7):1507-1516. doi: 10.1038/s41436-018-0373-1. Epub 2018 Dec 7.

5.

Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels.

Lee K, Seifert BA, Shimelis H, Ghosh R, Crowley SB, Carter NJ, Doonanco K, Foreman AK, Ritter DI, Jimenez S, Trapp M, Offit K, Plon SE, Couch FJ.

Genet Med. 2019 Jul;21(7):1497-1506. doi: 10.1038/s41436-018-0361-5. Epub 2018 Dec 3.

6.

The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics.

Popejoy AB, Ritter DI, Crooks K, Currey E, Fullerton SM, Hindorff LA, Koenig B, Ramos EM, Sorokin EP, Wand H, Wright MW, Zou J, Gignoux CR, Bonham VL, Plon SE, Bustamante CD; Clinical Genome Resource (ClinGen) Ancestry and Diversity Working Group (ADWG).

Hum Mutat. 2018 Nov;39(11):1713-1720. doi: 10.1002/humu.23644.

7.

Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community-driven standards.

Danos AM, Ritter DI, Wagner AH, Krysiak K, Sonkin D, Micheel C, McCoy M, Rao S, Raca G, Boca SM, Roy A, Barnell EK, McMichael JF, Kiwala S, Coffman AC, Kujan L, Kulkarni S, Griffith M, Madhavan S, Griffith OL; Clinical Genome Resource Somatic Working Group and Clinical Interpretation of Variants in Cancer team members.

Hum Mutat. 2018 Nov;39(11):1721-1732. doi: 10.1002/humu.23651.

8.

Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes.

Walsh MF, Ritter DI, Kesserwan C, Sonkin D, Chakravarty D, Chao E, Ghosh R, Kemel Y, Wu G, Lee K, Kulkarni S, Hedges D, Mandelker D, Ceyhan-Birsoy O, Luo M, Drazer M, Zhang L, Offit K, Plon SE.

Hum Mutat. 2018 Nov;39(11):1542-1552. doi: 10.1002/humu.23640.

9.

Pathogenic Germline Variants in 10,389 Adult Cancers.

Huang KL, Mashl RJ, Wu Y, Ritter DI, Wang J, Oh C, Paczkowska M, Reynolds S, Wyczalkowski MA, Oak N, Scott AD, Krassowski M, Cherniack AD, Houlahan KE, Jayasinghe R, Wang LB, Zhou DC, Liu D, Cao S, Kim YW, Koire A, McMichael JF, Hucthagowder V, Kim TB, Hahn A, Wang C, McLellan MD, Al-Mulla F, Johnson KJ; Cancer Genome Atlas Research Network, Lichtarge O, Boutros PC, Raphael B, Lazar AJ, Zhang W, Wendl MC, Govindan R, Jain S, Wheeler D, Kulkarni S, Dipersio JF, Reimand J, Meric-Bernstam F, Chen K, Shmulevich I, Plon SE, Chen F, Ding L.

Cell. 2018 Apr 5;173(2):355-370.e14. doi: 10.1016/j.cell.2018.03.039.

10.

Somatic cancer variant curation and harmonization through consensus minimum variant level data.

Ritter DI, Roychowdhury S, Roy A, Rao S, Landrum MJ, Sonkin D, Shekar M, Davis CF, Hart RK, Micheel C, Weaver M, Van Allen EM, Parsons DW, McLeod HL, Watson MS, Plon SE, Kulkarni S, Madhavan S; ClinGen Somatic Cancer Working Group.

Genome Med. 2016 Nov 4;8(1):117.

11.

Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease.

van der Crabben SN, Hennus MP, McGregor GA, Ritter DI, Nagamani SC, Wells OS, Harakalova M, Chinn IK, Alt A, Vondrova L, Hochstenbach R, van Montfrans JM, Terheggen-Lagro SW, van Lieshout S, van Roosmalen MJ, Renkens I, Duran K, Nijman IJ, Kloosterman WP, Hennekam E, Orange JS, van Hasselt PM, Wheeler DA, Palecek JJ, Lehmann AR, Oliver AW, Pearl LH, Plon SE, Murray JM, van Haaften G.

J Clin Invest. 2016 Aug 1;126(8):2881-92. doi: 10.1172/JCI82890. Epub 2016 Jul 18.

12.

SV-STAT accurately detects structural variation via alignment to reference-based assemblies.

Davis CF, Ritter DI, Wheeler DA, Wang H, Ding Y, Dugan SP, Bainbridge MN, Muzny DM, Rao PH, Man TK, Plon SE, Gibbs RA, Lau CC.

Source Code Biol Med. 2016 Jun 18;11:8. doi: 10.1186/s13029-016-0051-0. eCollection 2016.

13.

Pharmacogenetic characterization of naturally occurring germline NT5C1A variants to chemotherapeutic nucleoside analogs.

Saliba J, Zabriskie R, Ghosh R, Powell BC, Hicks S, Kimmel M, Meng Q, Ritter DI, Wheeler DA, Gibbs RA, Tsai FT, Plon SE.

Pharmacogenet Genomics. 2016 Jun;26(6):271-9. doi: 10.1097/FPC.0000000000000208.

14.

Assessing structural variation in a personal genome-towards a human reference diploid genome.

English AC, Salerno WJ, Hampton OA, Gonzaga-Jauregui C, Ambreth S, Ritter DI, Beck CR, Davis CF, Dahdouli M, Ma S, Carroll A, Veeraraghavan N, Bruestle J, Drees B, Hastie A, Lam ET, White S, Mishra P, Wang M, Han Y, Zhang F, Stankiewicz P, Wheeler DA, Reid JG, Muzny DM, Rogers J, Sabo A, Worley KC, Lupski JR, Boerwinkle E, Gibbs RA.

BMC Genomics. 2015 Apr 11;16:286. doi: 10.1186/s12864-015-1479-3.

15.

Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing.

Ritter DI, Haines K, Cheung H, Davis CF, Lau CC, Berg JS, Brown CW, Thompson PA, Gibbs R, Wheeler DA, Plon SE.

Genet Med. 2015 Oct;17(10):831-5. doi: 10.1038/gim.2014.189. Epub 2015 Jan 8.

16.

Transcriptional enhancers in protein-coding exons of vertebrate developmental genes.

Ritter DI, Dong Z, Guo S, Chuang JH.

PLoS One. 2012;7(5):e35202. doi: 10.1371/journal.pone.0035202. Epub 2012 May 2.

17.

The importance of being cis: evolution of orthologous fish and mammalian enhancer activity.

Ritter DI, Li Q, Kostka D, Pollard KS, Guo S, Chuang JH.

Mol Biol Evol. 2010 Oct;27(10):2322-32. doi: 10.1093/molbev/msq128. Epub 2010 May 21.

18.

cneViewer: a database of conserved non-coding elements for studies of tissue-specific gene regulation.

Persampieri J, Ritter DI, Lees D, Lehoczky J, Li Q, Guo S, Chuang JH.

Bioinformatics. 2008 Oct 15;24(20):2418-9. doi: 10.1093/bioinformatics/btn443. Epub 2008 Aug 20.

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