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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. Ritter DI, et al. Among authors: roy a. Genome Med. 2016 Nov 4;8(1):117. doi: 10.1186/s13073-016-0367-z. Genome Med. 2016. PMID: 27814769 Free PMC article.
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. Danos AM, et al. Among authors: roy a. Hum Mutat. 2018 Nov;39(11):1721-1732. doi: 10.1002/humu.23651. Hum Mutat. 2018. PMID: 30311370 Free PMC article.
Liver tumors in children with metabolic disorders.
Schady DA, Roy A, Finegold MJ. Schady DA, et al. Among authors: roy a. Transl Pediatr. 2015 Oct;4(4):290-303. doi: 10.3978/j.issn.2224-4336.2015.10.08. Transl Pediatr. 2015. PMID: 26835391 Free PMC article. Review.
Clinical and molecular features of pediatric cancer patients with Lynch syndrome.
Scollon S, Eldomery MK, Reuther J, Lin FY, Potter SL, Desrosiers L, McClain KL, Smith V, Su JM, Venkatramani R, Hu J, Korchina V, Zarrin-Khameh N, Gibbs RA, Muzny DM, Eng C, Roy A, Parsons DW, Plon SE. Scollon S, et al. Among authors: roy a. Pediatr Blood Cancer. 2022 Nov;69(11):e29859. doi: 10.1002/pbc.29859. Epub 2022 Jun 30. Pediatr Blood Cancer. 2022. PMID: 35713195 Free PMC article.
Integrated tumor and germline whole-exome sequencing identifies mutations in MAPK and PI3K pathway genes in an adolescent with rosette-forming glioneuronal tumor of the fourth ventricle.
Lin FY, Bergstrom K, Person R, Bavle A, Ballester LY, Scollon S, Raesz-Martinez R, Jea A, Birchansky S, Wheeler DA, Berg SL, Chintagumpala MM, Adesina AM, Eng C, Roy A, Plon SE, Parsons DW. Lin FY, et al. Among authors: roy a. Cold Spring Harb Mol Case Stud. 2016 Sep;2(5):a001057. doi: 10.1101/mcs.a001057. Cold Spring Harb Mol Case Stud. 2016. PMID: 27626068 Free PMC article.
6,695 results