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

Year Number of Results
1913 1
1938 1
1988 1
1989 1
1990 1
1991 1
1993 1
1995 3
1996 1
1997 1
1998 2
2000 3
2001 3
2005 2
2008 1
2009 3
2010 5
2011 6
2012 5
2013 5
2014 10
2015 7
2016 10
2017 7
2018 8
2019 11
2020 7
2021 7
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100 results
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Page 1
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T; DDD study, Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM. Snijders Blok L, et al. Among authors: skinner sa. Nat Commun. 2018 Nov 5;9(1):4619. doi: 10.1038/s41467-018-06014-6. Nat Commun. 2018. PMID: 30397230 Free PMC article.
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Aref-Eshghi E, Kerkhof J, Pedro VP; Groupe DI France, Barat-Houari M, Ruiz-Pallares N, Andrau JC, Lacombe D, Van-Gils J, Fergelot P, Dubourg C, Cormier-Daire V, Rondeau S, Lecoquierre F, Saugier-Veber P, Nicolas G, Lesca G, Chatron N, Sanlaville D, Vitobello A, Faivre L, Thauvin-Robinet C, Laumonnier F, Raynaud M, Alders M, Mannens M, Henneman P, Hennekam RC, Velasco G, Francastel C, Ulveling D, Ciolfi A, Pizzi S, Tartaglia M, Heide S, Héron D, Mignot C, Keren B, Whalen S, Afenjar A, Bienvenu T, Campeau PM, Rousseau J, Levy MA, Brick L, Kozenko M, Balci TB, Siu VM, Stuart A, Kadour M, Masters J, Takano K, Kleefstra T, de Leeuw N, Field M, Shaw M, Gecz J, Ainsworth PJ, Lin H, Rodenhiser DI, Friez MJ, Tedder M, Lee JA, DuPont BR, Stevenson RE, Skinner SA, Schwartz CE, Genevieve D, Sadikovic B. Aref-Eshghi E, et al. Among authors: skinner sa. Am J Hum Genet. 2020 Mar 5;106(3):356-370. doi: 10.1016/j.ajhg.2020.01.019. Epub 2020 Feb 27. Am J Hum Genet. 2020. PMID: 32109418 Free PMC article.
Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome.
Peters SU, Fu C, Suter B, Marsh E, Benke TA, Skinner SA, Lieberman DN, Standridge S, Jones M, Beisang A, Feyma T, Heydeman P, Ryther R, Kaufmann WE, Glaze DG, Neul JL, Percy AK. Peters SU, et al. Among authors: skinner sa. Clin Genet. 2019 May;95(5):575-581. doi: 10.1111/cge.13521. Epub 2019 Mar 15. Clin Genet. 2019. PMID: 30788845 Free PMC article.
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
Torti E, Keren B, Palmer EE, Zhu Z, Afenjar A, Anderson IJ, Andrews MV, Atkinson C, Au M, Berry SA, Bowling KM, Boyle J, Buratti J, Cathey SS, Charles P, Cogne B, Courtin T, Escobar LF, Finley SL, Graham JM Jr, Grange DK, Heron D, Hewson S, Hiatt SM, Hibbs KA, Jayakar P, Kalsner L, Larcher L, Lesca G, Mark PR, Miller K, Nava C, Nizon M, Pai GS, Pappas J, Parsons G, Payne K, Putoux A, Rabin R, Sabatier I, Shinawi M, Shur N, Skinner SA, Valence S, Warren H, Whalen S, Crunk A, Douglas G, Monaghan KG, Person RE, Willaert R, Solomon BD, Juusola J. Torti E, et al. Among authors: skinner sa. Genet Med. 2019 Sep;21(9):2036-2042. doi: 10.1038/s41436-019-0454-9. Epub 2019 Feb 11. Genet Med. 2019. PMID: 30739909 Free PMC article.
Longitudinal course of epilepsy in Rett syndrome and related disorders.
Tarquinio DC, Hou W, Berg A, Kaufmann WE, Lane JB, Skinner SA, Motil KJ, Neul JL, Percy AK, Glaze DG. Tarquinio DC, et al. Among authors: skinner sa. Brain. 2017 Feb;140(2):306-318. doi: 10.1093/brain/aww302. Epub 2016 Dec 21. Brain. 2017. PMID: 28007990 Free PMC article.
EOY summary 2018.
Hendrickx JF, De Wolf AM, Van Zundert T, Skinner SA. Hendrickx JF, et al. Among authors: skinner sa. J Clin Monit Comput. 2019 Apr;33(2):195-200. doi: 10.1007/s10877-019-00256-5. Epub 2019 Jan 16. J Clin Monit Comput. 2019. PMID: 30652254 Review.
MEF2C Hypofunction in Neuronal and Neuroimmune Populations Produces MEF2C Haploinsufficiency Syndrome-like Behaviors in Mice.
Harrington AJ, Bridges CM, Berto S, Blankenship K, Cho JY, Assali A, Siemsen BM, Moore HW, Tsvetkov E, Thielking A, Konopka G, Everman DB, Scofield MD, Skinner SA, Cowan CW. Harrington AJ, et al. Among authors: skinner sa. Biol Psychiatry. 2020 Sep 15;88(6):488-499. doi: 10.1016/j.biopsych.2020.03.011. Epub 2020 Mar 31. Biol Psychiatry. 2020. PMID: 32418612
The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2.
Neul JL, Benke TA, Marsh ED, Skinner SA, Merritt J, Lieberman DN, Standridge S, Feyma T, Heydemann P, Peters S, Ryther R, Jones M, Suter B, Kaufmann WE, Glaze DG, Percy AK. Neul JL, et al. Among authors: skinner sa. Am J Med Genet B Neuropsychiatr Genet. 2019 Jan;180(1):55-67. doi: 10.1002/ajmg.b.32707. Epub 2018 Dec 7. Am J Med Genet B Neuropsychiatr Genet. 2019. PMID: 30536762 Free PMC article.
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity.
Cristofoli F, Moss T, Moore HW, Devriendt K, Flanagan-Steet H, May M, Jones J, Roelens F, Fons C, Fernandez A, Martorell L, Selicorni A, Maitz S, Vitiello G, Van der Hoeven G, Skinner SA, Bollen M, Vermeesch JR, Steet R, Van Esch H. Cristofoli F, et al. Among authors: skinner sa. Am J Hum Genet. 2020 Oct 1;107(4):753-762. doi: 10.1016/j.ajhg.2020.08.015. Epub 2020 Sep 9. Am J Hum Genet. 2020. PMID: 32910914 Free PMC article.
A randomized controlled trial of levodopa in patients with Angelman syndrome.
Tan WH, Bird LM, Sadhwani A, Barbieri-Welge RL, Skinner SA, Horowitz LT, Bacino CA, Noll LM, Fu C, Hundley RJ, Wink LK, Erickson CA, Barnes GN, Slavotinek A, Jeremy R, Rotenberg A, Kothare SV, Olson HE, Poduri A, Nespeca MP, Chu HC, Willen JM, Haas KF, Weeber EJ, Rufo PA. Tan WH, et al. Among authors: skinner sa. Am J Med Genet A. 2018 May;176(5):1099-1107. doi: 10.1002/ajmg.a.38457. Epub 2017 Sep 25. Am J Med Genet A. 2018. PMID: 28944563 Free PMC article. Clinical Trial.
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