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Focused Revision: ACMG practice resource: Genetic evaluation of short stature.
Mintz CS, Seaver LH, Irons M, Grimberg A, Lozano R; ACMG Professional Practice and Guidelines Committee. Mintz CS, et al. Among authors: seaver lh. Genet Med. 2021 May;23(5):813-815. doi: 10.1038/s41436-020-01046-0. Epub 2021 Jan 29. Genet Med. 2021. PMID: 33514815 Free article. No abstract available.
Toriello-Carey syndrome: delineation and review.
Toriello HV, Carey JC, Addor MC, Allen W, Burke L, Chun N, Dobyns W, Elias E, Gallagher R, Hordijk R, Hoyme G, Irons M, Jewett T, LeMerrer M, Lubinsky M, Martin R, McDonald-McGinn D, Neumann L, Newman W, Pauli R, Seaver L, Tsai A, Wargowsky D, Williams M, Zackai E. Toriello HV, et al. Am J Med Genet A. 2003 Nov 15;123A(1):84-90. doi: 10.1002/ajmg.a.20493. Am J Med Genet A. 2003. PMID: 14556252 Review.
ACMG practice guideline: genetic evaluation of short stature.
Seaver LH, Irons M; American College of Medical Genetics (ACMG) Professional Practice and Guidelines Committee. Seaver LH, et al. Genet Med. 2009 Jun;11(6):465-70. doi: 10.1097/GIM.0b013e3181a7e8f8. Genet Med. 2009. PMID: 19451827 Free PMC article.
The interface of genomic information with the electronic health record: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Grebe TA, Khushf G, Chen M, Bailey D, Brenman LM, Williams MS, Seaver LH; ACMG Social, Ethical and Legal Issues Committee. Grebe TA, et al. Among authors: seaver lh. Genet Med. 2020 Sep;22(9):1431-1436. doi: 10.1038/s41436-020-0841-2. Epub 2020 Jun 1. Genet Med. 2020. PMID: 32475985 Free article. No abstract available.
A dyadic approach to the delineation of diagnostic entities in clinical genomics.
Biesecker LG, Adam MP, Alkuraya FS, Amemiya AR, Bamshad MJ, Beck AE, Bennett JT, Bird LM, Carey JC, Chung B, Clark RD, Cox TC, Curry C, Dinulos MBP, Dobyns WB, Giampietro PF, Girisha KM, Glass IA, Graham JM Jr, Gripp KW, Haldeman-Englert CR, Hall BD, Innes AM, Kalish JM, Keppler-Noreuil KM, Kosaki K, Kozel BA, Mirzaa GM, Mulvihill JJ, Nowaczyk MJM, Pagon RA, Retterer K, Rope AF, Sanchez-Lara PA, Seaver LH, Shieh JT, Slavotinek AM, Sobering AK, Stevens CA, Stevenson DA, Tan TY, Tan WH, Tsai AC, Weaver DD, Williams MS, Zackai E, Zarate YA. Biesecker LG, et al. Among authors: seaver lh. Am J Hum Genet. 2021 Jan 7;108(1):8-15. doi: 10.1016/j.ajhg.2020.11.013. Am J Hum Genet. 2021. PMID: 33417889 Free PMC article. Review.
Points to consider to avoid unfair discrimination and the misuse of genetic information: A statement of the American College of Medical Genetics and Genomics (ACMG).
Seaver LH, Khushf G, King NMP, Matalon DR, Sanghavi K, Vatta M, Wees K; ACMG Social, Ethical and Legal Issues Committee. Electronic address: documents@acmg.net. Seaver LH, et al. Genet Med. 2022 Mar;24(3):512-520. doi: 10.1016/j.gim.2021.11.002. Epub 2021 Dec 16. Genet Med. 2022. PMID: 35253645 Free article. No abstract available.
Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.
Carvalho CM, Ramocki MB, Pehlivan D, Franco LM, Gonzaga-Jauregui C, Fang P, McCall A, Pivnick EK, Hines-Dowell S, Seaver LH, Friehling L, Lee S, Smith R, Del Gaudio D, Withers M, Liu P, Cheung SW, Belmont JW, Zoghbi HY, Hastings PJ, Lupski JR. Carvalho CM, et al. Among authors: seaver lh. Nat Genet. 2011 Oct 2;43(11):1074-81. doi: 10.1038/ng.944. Nat Genet. 2011. PMID: 21964572 Free PMC article.
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy.
Carter LB, Battaglia A, Cherry A, Manning MA, Ruzhnikov MR, Bird LM, Dowsett L, Graham JM Jr, Alkuraya FS, Hashem M, Dinulos MB, Vallee S, Adam MP, Glass I, Beck AE, Stevens CA, Zackai E, McDougall C, Keena B, Peron A, Vignoli A, Seaver LH, Slavin TP, Hudgins L. Carter LB, et al. Among authors: seaver lh. Am J Med Genet A. 2019 Aug;179(8):1543-1546. doi: 10.1002/ajmg.a.61266. Epub 2019 Jun 17. Am J Med Genet A. 2019. PMID: 31207089 Free PMC article. Review.
63 results