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1947 2
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1988 1
2002 1
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2006 4
2007 1
2008 1
2009 2
2010 4
2011 7
2012 3
2013 5
2014 3
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2017 3
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87 results

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Page 1
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: documents@acmg.net. 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.
Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG).
Gregg AR, Aarabi M, Klugman S, Leach NT, Bashford MT, Goldwaser T, Chen E, Sparks TN, Reddi HV, Rajkovic A, Dungan JS; ACMG Professional Practice and Guidelines Committee. Gregg AR, et al. Among authors: klugman s. Genet Med. 2021 Oct;23(10):1793-1806. doi: 10.1038/s41436-021-01203-z. Epub 2021 Jul 20. Genet Med. 2021. PMID: 34285390 Free PMC article.
Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
Dungan JS, Klugman S, Darilek S, Malinowski J, Akkari YMN, Monaghan KG, Erwin A, Best RG; ACMG Board of Directors. Electronic address: documents@acmg.net. Dungan JS, et al. Among authors: klugman s. Genet Med. 2023 Feb;25(2):100336. doi: 10.1016/j.gim.2022.11.004. Epub 2022 Dec 16. Genet Med. 2023. PMID: 36524989 Free article.
Integrative analysis of 111 reference human epigenomes.
Roadmap Epigenomics Consortium; Kundaje A, Meuleman W, Ernst J, Bilenky M, Yen A, Heravi-Moussavi A, Kheradpour P, Zhang Z, Wang J, Ziller MJ, Amin V, Whitaker JW, Schultz MD, Ward LD, Sarkar A, Quon G, Sandstrom RS, Eaton ML, Wu YC, Pfenning AR, Wang X, Claussnitzer M, Liu Y, Coarfa C, Harris RA, Shoresh N, Epstein CB, Gjoneska E, Leung D, Xie W, Hawkins RD, Lister R, Hong C, Gascard P, Mungall AJ, Moore R, Chuah E, Tam A, Canfield TK, Hansen RS, Kaul R, Sabo PJ, Bansal MS, Carles A, Dixon JR, Farh KH, Feizi S, Karlic R, Kim AR, Kulkarni A, Li D, Lowdon R, Elliott G, Mercer TR, Neph SJ, Onuchic V, Polak P, Rajagopal N, Ray P, Sallari RC, Siebenthall KT, Sinnott-Armstrong NA, Stevens M, Thurman RE, Wu J, Zhang B, Zhou X, Beaudet AE, Boyer LA, De Jager PL, Farnham PJ, Fisher SJ, Haussler D, Jones SJ, Li W, Marra MA, McManus MT, Sunyaev S, Thomson JA, Tlsty TD, Tsai LH, Wang W, Waterland RA, Zhang MQ, Chadwick LH, Bernstein BE, Costello JF, Ecker JR, Hirst M, Meissner A, Milosavljevic A, Ren B, Stamatoyannopoulos JA, Wang T, Kellis M. Roadmap Epigenomics Consortium, et al. Nature. 2015 Feb 19;518(7539):317-30. doi: 10.1038/nature14248. Nature. 2015. PMID: 25693563 Free PMC article.
Chromosomal microarray versus karyotyping for prenatal diagnosis.
Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachary JM, Savage M, Platt LD, Saltzman D, Grobman WA, Klugman S, Scholl T, Simpson JL, McCall K, Aggarwal VS, Bunke B, Nahum O, Patel A, Lamb AN, Thom EA, Beaudet AL, Ledbetter DH, Shaffer LG, Jackson L. Wapner RJ, et al. Among authors: klugman s. N Engl J Med. 2012 Dec 6;367(23):2175-84. doi: 10.1056/NEJMoa1203382. N Engl J Med. 2012. PMID: 23215555 Free PMC article. Clinical Trial.
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 Free article. No abstract available.
Ethnicity-Based Carrier Screening.
King JR, Klugman S. King JR, et al. Among authors: klugman s. Obstet Gynecol Clin North Am. 2018 Mar;45(1):83-101. doi: 10.1016/j.ogc.2017.10.010. Obstet Gynecol Clin North Am. 2018. PMID: 29428288 Review.
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: documents@acmg.net. Pal T, et al. Among authors: klugman s. Genet Med. 2025 Jan;27(1):101243. doi: 10.1016/j.gim.2024.101243. Epub 2024 Dec 5. Genet Med. 2025. PMID: 39636577
Response to Prensky and Persson.
Dungan JS, Klugman S. Dungan JS, et al. Among authors: klugman s. Genet Med. 2023 Sep;25(9):100873. doi: 10.1016/j.gim.2023.100873. Epub 2023 Jun 2. Genet Med. 2023. PMID: 37266582 Free article. 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
87 results