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Management of individuals with heterozygous germline pathogenic variants in ATM: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Pal T, Schon KR, Astiazaran-Symonds E, Balmaña J, Foulkes WD, James P, Klugman S, Livinski AA, Mak JS, Ngeow J, Voian N, Wick MJ, Hanson H, Stewart DR, Tischkowitz M; ACMG Professional Practice and Guidelines Committee. Electronic address: [email protected]. Pal T, et al. Among authors: klugman s. Genet Med. 2024 Dec 4:101243. doi: 10.1016/j.gim.2024.101243. Online ahead of print. Genet Med. 2024. PMID: 39636577
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M, Griffen A, Meissner P, Spencer P, Cabana MD, Klugman SD, Colón M, Maksumova Z, Suglia S, Isasi C, Greally JM, Raj SM. Isshiki M, et al. Among authors: klugman sd. medRxiv [Preprint]. 2024 Sep 28:2024.09.27.24314513. doi: 10.1101/2024.09.27.24314513. medRxiv. 2024. PMID: 39399040 Free PMC article. Preprint.
Points to consider for providing expert witness testimony for the specialty of medical genetics: A statement of the American College of Medical Genetics and Genomics (ACMG).
Seaver LH, Chan P, Fleisher LD, Huang SJ, Klugman SD, Matalon DR; ACMG Ethical, Legal, and Social Issues Committee. Electronic address: [email protected]. Seaver LH, et al. Among authors: klugman sd. Genet Med. 2024 Oct;26(10):101229. doi: 10.1016/j.gim.2024.101229. Epub 2024 Sep 5. Genet Med. 2024. PMID: 39240268 No abstract available.
Response to Stern.
Hanson H, Astiazaran-Symonds E, Amendola LM, Balmaña J, Foulkes WD, James P, Klugman S, Ngeow J, Schmutzler R, Voian N, Wick MJ, Pal T, Tischkowitz M, Stewart DR. Hanson H, et al. Among authors: klugman s. Genet Med. 2024 Feb;26(2):101030. doi: 10.1016/j.gim.2023.101030. Epub 2023 Dec 29. Genet Med. 2024. PMID: 38156990 No abstract available.
Noninvasive Prenatal Screening for Single-Gene Disorders.
Gonsalves Z, Klugman S. Gonsalves Z, et al. Among authors: klugman s. Clin Obstet Gynecol. 2023 Sep 1;66(3):629-635. doi: 10.1097/GRF.0000000000000795. Epub 2023 Jul 17. Clin Obstet Gynecol. 2023. PMID: 37650672
Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Hanson H, Astiazaran-Symonds E, Amendola LM, Balmaña J, Foulkes WD, James P, Klugman S, Ngeow J, Schmutzler R, Voian N, Wick MJ, Pal T, Tischkowitz M, Stewart DR; ACMG Professional Practices and Guidelines Committee. Electronic address: [email protected]. Hanson H, et al. Among authors: klugman s. Genet Med. 2023 Oct;25(10):100870. doi: 10.1016/j.gim.2023.100870. Epub 2023 Jul 25. Genet Med. 2023. PMID: 37490054 Free PMC article.
85 results