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1984 2
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1993 4
1994 1
1995 2
1996 1
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1998 3
1999 1
2000 2
2001 3
2002 2
2003 3
2004 2
2005 1
2006 1
2007 3
2008 4
2009 2
2010 3
2011 4
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105 results

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Page 1
Health Care Supervision for Children With Williams Syndrome.
Morris CA, Braddock SR; COUNCIL ON GENETICS. Morris CA, et al. Among authors: braddock sr. Pediatrics. 2020 Feb;145(2):e20193761. doi: 10.1542/peds.2019-3761. Epub 2020 Jan 21. Pediatrics. 2020. PMID: 31964759 Review.
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Weerts MJA, Lanko K, Guzmán-Vega FJ, Jackson A, Ramakrishnan R, Cardona-Londoño KJ, Peña-Guerra KA, van Bever Y, van Paassen BW, Kievit A, van Slegtenhorst M, Allen NM, Kehoe CM, Robinson HK, Pang L, Banu SH, Zaman M, Efthymiou S, Houlden H, Järvelä I, Lauronen L, Määttä T, Schrauwen I, Leal SM, Ruivenkamp CAL, Barge-Schaapveld DQCM, Peeters-Scholte CMPCD, Galehdari H, Mazaheri N, Sisodiya SM, Harrison V, Sun A, Thies J, Pedroza LA, Lara-Taranchenko Y, Chinn IK, Lupski JR, Garza-Flores A, McGlothlin J, Yang L, Huang S, Wang X, Jewett T, Rosso G, Lin X, Mohammed S, Merritt JL 2nd, Mirzaa GM, Timms AE, Scheck J, Elting MW, Polstra AM, Schenck L, Ruzhnikov MRZ, Vetro A, Montomoli M, Guerrini R, Koboldt DC, Mosher TM, Pastore MT, McBride KL, Peng J, Pan Z, Willemsen M, Koning S, Turnpenny PD, de Vries BBA, Gilissen C, Pfundt R, Lees M, Braddock SR, Klemp KC, Vansenne F, van Gijn ME, Quindipan C, Deardorff MA, Hamm JA, Putnam AM, Baud R, Walsh L, Lynch SA, Baptista J, Person RE, Monaghan KG, Crunk A, Keller-Ramey J, Reich A, Elloumi HZ, Alders M, Kerkhof J, McConkey H, Haghshenas S; Genomics England Research Consortium; Maroofian R, Sadikovic B, Banka S, Arold ST, Barakat TS. Weerts MJA, et al. Among authors: braddock sr. Genet Med. 2021 Nov;23(11):2122-2137. doi: 10.1038/s41436-021-01246-2. Epub 2021 Aug 3. Genet Med. 2021. PMID: 34345025 Free PMC article.
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
Akula SK, Chen AY, Neil JE, Shao DD, Mo A, Hylton NK, DiTroia S, Ganesh VS, Smith RS, O'Kane K, Yeh RC, Marciano JH, Kirkham S, Kenny CJ, Song JHT, Al Saffar M, Millan F, Harris DJ, Murphy AV, Klemp KC, Braddock SR, Brand H, Wong I, Talkowski ME, O'Donnell-Luria A, Lai A, Hill RS, Mochida GH, Doan RN, Barkovich AJ, Yang E, Amrom D, Andermann E, Poduri A, Walsh CA; Polymicrogyria Genetics Research Network. Akula SK, et al. Among authors: braddock sr. JAMA Neurol. 2023 Sep 1;80(9):980-988. doi: 10.1001/jamaneurol.2023.2363. JAMA Neurol. 2023. PMID: 37486637 Free PMC article.
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
Mirzaa G, Timms AE, Conti V, Boyle EA, Girisha KM, Martin B, Kircher M, Olds C, Juusola J, Collins S, Park K, Carter M, Glass I, Krägeloh-Mann I, Chitayat D, Parikh AS, Bradshaw R, Torti E, Braddock S, Burke L, Ghedia S, Stephan M, Stewart F, Prasad C, Napier M, Saitta S, Straussberg R, Gabbett M, O'Connor BC, Keegan CE, Yin LJ, Lai AHM, Martin N, McKinnon M, Addor MC, Boccuto L, Schwartz CE, Lanoel A, Conway RL, Devriendt K, Tatton-Brown K, Pierpont ME, Painter M, Worgan L, Reggin J, Hennekam R, Tsuchiya K, Pritchard CC, Aracena M, Gripp KW, Cordisco M, Van Esch H, Garavelli L, Curry C, Goriely A, Kayserilli H, Shendure J, Graham J Jr, Guerrini R, Dobyns WB. Mirzaa G, et al. Among authors: braddock s. JCI Insight. 2016 Jun 16;1(9):e87623. doi: 10.1172/jci.insight.87623. JCI Insight. 2016. PMID: 27631024 Free PMC article.
Cohen Syndrome: Review of the Literature.
Rodrigues JM, Fernandes HD, Caruthers C, Braddock SR, Knutsen AP. Rodrigues JM, et al. Among authors: braddock sr. Cureus. 2018 Sep 18;10(9):e3330. doi: 10.7759/cureus.3330. Cureus. 2018. PMID: 30473963 Free PMC article. Review.
Paternal Valproate Treatment and Risk of Childhood Neurodevelopmental Disorders: Precautionary Regulatory Measures Are Insufficiently Substantiated.
Garey JD, Damkier P, Scialli AR, Lusskin S, Braddock SR, Chouchana L, Cleary B, Conover EA, Diav-Citrin O, Dragovich RS, Garcia-Bournissen F, Hodson K, Kennedy D, Lamm SH, Lavigne SA, Običan SG, Panchaud A, Perrotta K, Romeo AN, Shechtman S, Weber-Schoendorfer C. Garey JD, et al. Among authors: braddock sr. Birth Defects Res. 2024 Aug;116(8):e2392. doi: 10.1002/bdr2.2392. Birth Defects Res. 2024. PMID: 39189597
Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants.
McCarty RM, Saade D, Munot P, Laverty CG, Pinz H, Zou Y, McAnally M, Yun P, Tian C, Hu Y, Feng L, Phadke R, Ceulemans S, Magoulas P, Skalsky AJ, Friedman JR, Braddock SR, Neuhaus SB, Malicki DM, Bainbridge MN, Nahas S, Dimmock DP, Kingsmore SF, Lotze TE, Foley AR, Muntoni F, Straub V, Donkervoort S, Bönnemann CG. McCarty RM, et al. Among authors: braddock sr. Ann Clin Transl Neurol. 2025 Mar;12(3):602-614. doi: 10.1002/acn3.52225. Epub 2025 Feb 9. Ann Clin Transl Neurol. 2025. PMID: 39923201 Free PMC article.
105 results