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The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.
Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
Genet Med. 2022.
PMID: 35507016
Free PMC article.
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group; Topper S.
Nykamp K, et al.
Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11.
Genet Med. 2017.
PMID: 28492532
Free PMC article.
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Clinical application of whole-exome sequencing across clinical indications.
Retterer K, Juusola J, Cho MT, Vitazka P, Millan F, Gibellini F, Vertino-Bell A, Smaoui N, Neidich J, Monaghan KG, McKnight D, Bai R, Suchy S, Friedman B, Tahiliani J, Pineda-Alvarez D, Richard G, Brandt T, Haverfield E, Chung WK, Bale S.
Retterer K, et al. Among authors: tahiliani j.
Genet Med. 2016 Jul;18(7):696-704. doi: 10.1038/gim.2015.148. Epub 2015 Dec 3.
Genet Med. 2016.
PMID: 26633542
Free article.
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Correction: Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group; Topper S.
Nykamp K, et al.
Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.
Genet Med. 2020.
PMID: 31346256
Free PMC article.
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Clinical Genetic Testing for the Cardiomyopathies and Arrhythmias: A Systematic Framework for Establishing Clinical Validity and Addressing Genotypic and Phenotypic Heterogeneity.
Garcia J, Tahiliani J, Johnson NM, Aguilar S, Beltran D, Daly A, Decker E, Haverfield E, Herrera B, Murillo L, Nykamp K, Topper S.
Garcia J, et al. Among authors: tahiliani j.
Front Cardiovasc Med. 2016 Jun 27;3:20. doi: 10.3389/fcvm.2016.00020. eCollection 2016.
Front Cardiovasc Med. 2016.
PMID: 27446933
Free PMC article.
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Tobacco use related attitudes and behaviors in Indian Adolescents: association with school-based prevention education.
Khubchandani J, Sharma M, Huston D, Tahiliani J.
Khubchandani J, et al. Among authors: tahiliani j.
Health Promot Perspect. 2017 Jun 14;7(3):128-133. doi: 10.15171/hpp.2017.24. eCollection 2017.
Health Promot Perspect. 2017.
PMID: 28695100
Free PMC article.
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