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Year Number of Results
2006 1
2010 2
2011 2
2012 1
2013 1
2016 2
2018 2
2019 3
2021 1
2024 0

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Page 1
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.
Van Dijck A, Vulto-van Silfhout AT, Cappuyns E, van der Werf IM, Mancini GM, Tzschach A, Bernier R, Gozes I, Eichler EE, Romano C, Lindstrand A, Nordgren A; ADNP Consortium; Kvarnung M, Kleefstra T, de Vries BBA, Küry S, Rosenfeld JA, Meuwissen ME, Vandeweyer G, Kooy RF. Van Dijck A, et al. Biol Psychiatry. 2019 Feb 15;85(4):287-297. doi: 10.1016/j.biopsych.2018.02.1173. Epub 2018 Mar 15. Biol Psychiatry. 2019. PMID: 29724491 Free PMC article.
Genetic Counseling Considerations for Military Beneficiaries.
Hellwig LD, Krokosky A, Vargason A, Turner C. Hellwig LD, et al. Among authors: krokosky a. Mil Med. 2021 Dec 30;187(Suppl 1):36-39. doi: 10.1093/milmed/usab007. Mil Med. 2021. PMID: 34967403 Free PMC article. Review.
Genetic Testing Stories.
Exe N, Ferguson H, Krokosky A, Sawyer S, Terry S. Exe N, et al. Among authors: krokosky a. Washington (DC): Genetic Alliance; 2006. Washington (DC): Genetic Alliance; 2006. PMID: 23304752 Free Books & Documents. Review.
Return of secondary findings in genomic sequencing: Military implications.
Hellwig LD, Turner C, Manolio TA, Haigney M, James CA, Murray B, Szpisjak DF, Muldoon S, Estrada-Veras J, Krokosky A, De Castro MJ. Hellwig LD, et al. Among authors: krokosky a. Mol Genet Genomic Med. 2019 Feb;7(2):e00483. doi: 10.1002/mgg3.483. Epub 2018 Nov 10. Mol Genet Genomic Med. 2019. PMID: 30415494 Free PMC article. Review.
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.
Ma L, Bayram Y, McLaughlin HM, Cho MT, Krokosky A, Turner CE, Lindstrom K, Bupp CP, Mayberry K, Mu W, Bodurtha J, Weinstein V, Zadeh N, Alcaraz W, Powis Z, Shao Y, Scott DA, Lewis AM, White JJ, Jhangiani SN, Gulec EY, Lalani SR, Lupski JR, Retterer K, Schnur RE, Wentzensen IM, Bale S, Chung WK. Ma L, et al. Among authors: krokosky a. Hum Genet. 2016 Dec;135(12):1399-1409. doi: 10.1007/s00439-016-1731-1. Epub 2016 Sep 28. Hum Genet. 2016. PMID: 27681385 Free PMC article.
Risky business: the need for hypothesis-generating research.
Baxter K, Krokosky A, Terry SF. Baxter K, et al. Among authors: krokosky a. Genet Test Mol Biomarkers. 2011 Sep;15(9):577-8. doi: 10.1089/gtmb.2011.1523. Genet Test Mol Biomarkers. 2011. PMID: 21905842 No abstract available.
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.
Kim JH, Shinde DN, Reijnders MRF, Hauser NS, Belmonte RL, Wilson GR, Bosch DGM, Bubulya PA, Shashi V, Petrovski S, Stone JK, Park EY, Veltman JA, Sinnema M, Stumpel CTRM, Draaisma JM, Nicolai J; University of Washington Center for Mendelian Genomics; Yntema HG, Lindstrom K, de Vries BBA, Jewett T, Santoro SL, Vogt J; Deciphering Developmental Disorders Study; Bachman KK, Seeley AH, Krokosky A, Turner C, Rohena L, Hempel M, Kortüm F, Lessel D, Neu A, Strom TM, Wieczorek D, Bramswig N, Laccone FA, Behunova J, Rehder H, Gordon CT, Rio M, Romana S, Tang S, El-Khechen D, Cho MT, McWalter K, Douglas G, Baskin B, Begtrup A, Funari T, Schoch K, Stegmann APA, Stevens SJC, Zhang DE, Traver D, Yao X, MacArthur DG, Brunner HG, Mancini GM, Myers RM, Owen LB, Lim ST, Stachura DL, Vissers LELM, Ahn EYE. Kim JH, et al. Among authors: krokosky a. Am J Hum Genet. 2016 Sep 1;99(3):711-719. doi: 10.1016/j.ajhg.2016.06.029. Epub 2016 Aug 18. Am J Hum Genet. 2016. PMID: 27545680 Free PMC article.
12 results