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

Year Number of Results
2007 2
2008 1
2009 2
2011 4
2012 1
2013 1
2014 3
2015 1
2016 2
2017 2
2018 6
2019 9
2020 2
2021 2
2022 2
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32 results
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Page 1
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V; DDD study, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. Vetrini F, et al. Among authors: gold ja. Genome Med. 2019 Feb 28;11(1):12. doi: 10.1186/s13073-019-0623-0. Genome Med. 2019. PMID: 30819258 Free PMC article.
Genetics of craniosynostosis.
Kimonis V, Gold JA, Hoffman TL, Panchal J, Boyadjiev SA. Kimonis V, et al. Among authors: gold ja. Semin Pediatr Neurol. 2007 Sep;14(3):150-61. doi: 10.1016/j.spen.2007.08.008. Semin Pediatr Neurol. 2007. PMID: 17980312 Review.
Contributing factors of mortality in Prader-Willi syndrome.
Proffitt J, Osann K, McManus B, Kimonis VE, Heinemann J, Butler MG, Stevenson DA, Gold JA. Proffitt J, et al. Among authors: gold ja. Am J Med Genet A. 2019 Feb;179(2):196-205. doi: 10.1002/ajmg.a.60688. Epub 2018 Dec 19. Am J Med Genet A. 2019. PMID: 30569567 Free PMC article.
Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental Syndromes.
Veatch OJ, Malow BA, Lee HS, Knight A, Barrish JO, Neul JL, Lane JB, Skinner SA, Kaufmann WE, Miller JL, Driscoll DJ, Bird LM, Butler MG, Dykens EM, Gold JA, Kimonis V, Bacino CA, Tan WH, Kothare SV, Peters SU, Percy AK, Glaze DG. Veatch OJ, et al. Among authors: gold ja. Pediatr Neurol. 2021 Oct;123:30-37. doi: 10.1016/j.pediatrneurol.2021.07.009. Epub 2021 Jul 24. Pediatr Neurol. 2021. PMID: 34388423 Free PMC article.
Birth seasonality studies in a large Prader-Willi syndrome cohort.
Butler MG, Kimonis V, Dykens E, Gold JA, Tamura R, Miller JL, Driscoll DJ. Butler MG, et al. Among authors: gold ja. Am J Med Genet A. 2019 Aug;179(8):1531-1534. doi: 10.1002/ajmg.a.61263. Epub 2019 Jun 21. Am J Med Genet A. 2019. PMID: 31225937 Free PMC article.
Nutritional phases in Prader-Willi syndrome.
Miller JL, Lynn CH, Driscoll DC, Goldstone AP, Gold JA, Kimonis V, Dykens E, Butler MG, Shuster JJ, Driscoll DJ. Miller JL, et al. Among authors: gold ja. Am J Med Genet A. 2011 May;155A(5):1040-9. doi: 10.1002/ajmg.a.33951. Epub 2011 Apr 4. Am J Med Genet A. 2011. PMID: 21465655 Free PMC article.
Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study.
Butler MG, Hartin SN, Hossain WA, Manzardo AM, Kimonis V, Dykens E, Gold JA, Kim SJ, Weisensel N, Tamura R, Miller JL, Driscoll DJ. Butler MG, et al. Among authors: gold ja. J Med Genet. 2019 Mar;56(3):149-153. doi: 10.1136/jmedgenet-2018-105301. Epub 2018 May 5. J Med Genet. 2019. PMID: 29730598 Free PMC article.
32 results