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Assessing copy number aberrations and copy-neutral loss-of-heterozygosity across the genome as best practice: An evidence-based review from the Cancer Genomics Consortium (CGC) working group for chronic lymphocytic leukemia.
Chun K, Wenger GD, Chaubey A, Dash DP, Kanagal-Shamanna R, Kantarci S, Kolhe R, Van Dyke DL, Wang L, Wolff DJ, Miron PM. Chun K, et al. Among authors: kantarci s. Cancer Genet. 2018 Dec;228-229:236-250. doi: 10.1016/j.cancergen.2018.07.004. Epub 2018 Oct 16. Cancer Genet. 2018. PMID: 30554732 Review.
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. Riggs ER, et al. Among authors: kantarci s. Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6. Genet Med. 2020. PMID: 31690835 Free PMC article.
Correction: 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. Riggs ER, et al. Among authors: kantarci s. Genet Med. 2021 Nov;23(11):2230. doi: 10.1038/s41436-021-01150-9. Genet Med. 2021. PMID: 33731880 Free article. No abstract available.
Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis.
Ordulu Z, Kammin T, Brand H, Pillalamarri V, Redin CE, Collins RL, Blumenthal I, Hanscom C, Pereira S, Bradley I, Crandall BF, Gerrol P, Hayden MA, Hussain N, Kanengisser-Pines B, Kantarci S, Levy B, Macera MJ, Quintero-Rivera F, Spiegel E, Stevens B, Ulm JE, Warburton D, Wilkins-Haug LE, Yachelevich N, Gusella JF, Talkowski ME, Morton CC. Ordulu Z, et al. Among authors: kantarci s. Am J Hum Genet. 2016 Nov 3;99(5):1015-1033. doi: 10.1016/j.ajhg.2016.08.022. Epub 2016 Oct 13. Am J Hum Genet. 2016. PMID: 27745839 Free PMC article.
Response to Maya et al.
Riggs ER, Andersen EF, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL; American College of Medical Genetics and Genomics. Riggs ER, et al. Among authors: kantarci s. Genet Med. 2020 Jul;22(7):1278-1279. doi: 10.1038/s41436-020-0796-3. Epub 2020 Apr 28. Genet Med. 2020. PMID: 32341575 Free article. No abstract available.
Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: four additional cases support a role of genetic modifiers in the manifestation of the phenotype.
Jamuar SS, Duzkale H, Duzkale N, Zhang C, High FA, Kaban L, Bhattacharya S, Crandall B, Kantarci S, Stoler JM, Lin AE. Jamuar SS, et al. Among authors: kantarci s. Am J Med Genet A. 2015 Jun;167(6):1400-5. doi: 10.1002/ajmg.a.36848. Epub 2015 Apr 2. Am J Med Genet A. 2015. PMID: 25846266 No abstract available.
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S, Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N; UCLA Clinical Genomics Center; Undiagnosed Diseases Network; Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V. Schoch K, et al. Am J Hum Genet. 2017 Feb 2;100(2):343-351. doi: 10.1016/j.ajhg.2016.12.013. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132692 Free PMC article.
Reporting of diagnostic cytogenetic results.
Ligon AH, Morton CC, Bieber FR, Fletcher JA, Giersch AB, Kantarci S, Leach N, Lee C, Sandstrom M, Weremowicz S, Xiao S, Dal Cin P. Ligon AH, et al. Among authors: kantarci s. Curr Protoc Hum Genet. 2011 Jul;Appendix 1:1D. doi: 10.1002/0471142905.hga01ds70. Curr Protoc Hum Genet. 2011. PMID: 21735374
41 results