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Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2003 2
2004 3
2005 5
2006 2
2009 2
2010 2
2011 1
2012 1
2014 1
2015 4
2016 3
2019 1
2020 1
2021 1
2022 1
2023 3
2024 0

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31 results

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Page 1
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, Abrudan JL, Johnson AD, Conlin LK, Dulik MC, Santani A, Metterville DR, Kelly M, Foreman AK, Lee K, Taylor KD, Guo X, Crooks K, Kiedrowski LA, Raffel LJ, Gordon O, Machini K, Desnick RJ, Biesecker LG, Lubitz SA, Mulchandani S, Cooper GM, Joffe S, Richards CS, Yang Y, Rotter JI, Rich SS, O'Donnell CJ, Berg JS, Spinner NB, Evans JP, Fullerton SM, Leppig KA, Bennett RL, Bird T, Sybert VP, Grady WM, Tabor HK, Kim JH, Bamshad MJ, Wilfond B, Motulsky AG, Scott CR, Pritchard CC, Walsh TD, Burke W, Raskind WH, Byers P, Hisama FM, Rehm H, Nickerson DA, Jarvik GP. Amendola LM, et al. Among authors: sybert vp. Genome Res. 2015 Mar;25(3):305-15. doi: 10.1101/gr.183483.114. Epub 2015 Jan 30. Genome Res. 2015. PMID: 25637381 Free PMC article.
Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway.
Wright JT, Fete M, Schneider H, Zinser M, Koster MI, Clarke AJ, Hadj-Rabia S, Tadini G, Pagnan N, Visinoni AF, Bergendal B, Abbott B, Fete T, Stanford C, Butcher C, D'Souza RN, Sybert VP, Morasso MI. Wright JT, et al. Among authors: sybert vp. Am J Med Genet A. 2019 Mar;179(3):442-447. doi: 10.1002/ajmg.a.61045. Epub 2019 Jan 31. Am J Med Genet A. 2019. PMID: 30703280 Free PMC article. Review.
Turner's syndrome.
Sybert VP, McCauley E. Sybert VP, et al. N Engl J Med. 2004 Sep 16;351(12):1227-38. doi: 10.1056/NEJMra030360. N Engl J Med. 2004. PMID: 15371580 Review. No abstract available.
Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
Pujol-Giménez J, Mirzaa G, Blue EE, Albano G, Miller DE, Allworth A, Bennett JT, Byers PH, Chanprasert S, Chen J, Doherty D, Folta AB, Gillentine MA, Glass I, Hing A, Horike-Pyne M, Leppig KA, Parhin A, Ranchalis J, Raskind WH, Rosenthal EA, Schwarze U, Sheppeard S, Strohbehn S, Sybert VP, Timms A, Wener M; University of Washington Center for Mendelian Genomics (UW-CMG)a, Undiagnosed Diseases Network (UDN); Bamshad MJ, Hisama FM, Jarvik GP, Dipple KM, Hediger MA, Stergachis AB. Pujol-Giménez J, et al. Among authors: sybert vp. Ann Clin Transl Neurol. 2023 Jun;10(6):1046-1053. doi: 10.1002/acn3.51786. Epub 2023 May 16. Ann Clin Transl Neurol. 2023. PMID: 37194416 Free PMC article.
Mosaicism in cutaneous pigmentation.
Lombillo VA, Sybert VP. Lombillo VA, et al. Among authors: sybert vp. Curr Opin Pediatr. 2005 Aug;17(4):494-500. doi: 10.1097/01.mop.0000171319.84053.45. Curr Opin Pediatr. 2005. PMID: 16012262 Review.
Understanding aneuploidy.
Siegel DH, Sybert VP. Siegel DH, et al. Among authors: sybert vp. Pediatr Dermatol. 2005 May-Jun;22(3):270-5. doi: 10.1111/j.1525-1470.2005.22323.x. Pediatr Dermatol. 2005. PMID: 15916583 Review. No abstract available.
Genetic counseling in epidermolysis bullosa.
Sybert VP. Sybert VP. Dermatol Clin. 2010 Apr;28(2):239-43, viii. doi: 10.1016/j.det.2009.12.004. Dermatol Clin. 2010. PMID: 20447486 Review.
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A.
Stergachis AB, Blue EE, Gillentine MA, Wang LK, Schwarze U, Cortés AS, Ranchalis J, Allworth A, Bland AE, Chanprasert S, Chen J, Doherty D, Folta AB, Glass I, Horike-Pyne M, Huang AY, Khan AT, Leppig KA, Miller DE, Mirzaa G, Parhin A, Raskind WH, Rosenthal EA, Sheppeard S, Strohbehn S, Sybert VP, Tran TT, Wener MH; for University of Washington Center for Mendelian Genomics (UW-CMG), and Undiagnosed Diseases Network (UDN),; Byers PHH, Nelson SF, Bamshad MJ, Dipple KM, Jarvik GP, Hoppins S, Hisama FM. Stergachis AB, et al. Among authors: sybert vp. Neurol Genet. 2023 Aug 8;9(5):e200090. doi: 10.1212/NXG.0000000000200090. eCollection 2023 Oct. Neurol Genet. 2023. PMID: 37560121 Free PMC article.
Cardiovascular outcomes of pregnancy in Turner syndrome.
Grewal J, Valente AM, Egbe AC, Wu FM, Krieger EV, Sybert VP, van Hagen IM, Beauchesne LM, Rodriguez FH, Broberg CS, John A, Bradley EA, Roos-Hesselink JW; AARCC Investigators. Grewal J, et al. Among authors: sybert vp. Heart. 2021 Jan;107(1):61-66. doi: 10.1136/heartjnl-2020-316719. Epub 2020 Jul 15. Heart. 2021. PMID: 32669396
Molecular Pathway-Based Classification of Ectodermal Dysplasias: First Five-Yearly Update.
Peschel N, Wright JT, Koster MI, Clarke AJ, Tadini G, Fete M, Hadj-Rabia S, Sybert VP, Norderyd J, Maier-Wohlfart S, Fete TJ, Pagnan N, Visinoni AF, Schneider H. Peschel N, et al. Among authors: sybert vp. Genes (Basel). 2022 Dec 10;13(12):2327. doi: 10.3390/genes13122327. Genes (Basel). 2022. PMID: 36553593 Free PMC article.
31 results