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

Year Number of Results
2003 2
2006 1
2007 3
2008 5
2009 3
2010 2
2011 4
2012 6
2013 5
2014 1
2015 4
2016 2
2017 5
2018 5
2019 4
2020 4
2021 6
2022 6
2023 13
2024 3

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75 results

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Page 1
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.
Bosch E, Popp B, Güse E, Skinner C, van der Sluijs PJ, Maystadt I, Pinto AM, Renieri A, Bruno LP, Granata S, Marcelis C, Baysal Ö, Hartwich D, Holthöfer L, Isidor B, Cogne B, Wieczorek D, Capra V, Scala M, De Marco P, Ognibene M, Jamra RA, Platzer K, Carter LB, Kuismin O, van Haeringen A, Maroofian R, Valenzuela I, Cuscó I, Martinez-Agosto JA, Rabani AM, Mefford HC, Pereira EM, Close C, Anyane-Yeboa K, Wagner M, Hannibal MC, Zacher P, Thiffault I, Beunders G, Umair M, Bhola PT, McGinnis E, Millichap J, van de Kamp JM, Prijoles EJ, Dobson A, Shillington A, Graham BH, Garcia EJ, Galindo MK, Ropers FG, Nibbeling EAR, Hubbard G, Karimov C, Goj G, Bend R, Rath J, Morrow MM, Millan F, Salpietro V, Torella A, Nigro V, Kurki M, Stevenson RE, Santen GWE, Zweier M, Campeau PM, Severino M, Reis A, Accogli A, Vasileiou G. Bosch E, et al. Among authors: skinner c. Genet Med. 2023 Nov;25(11):100950. doi: 10.1016/j.gim.2023.100950. Epub 2023 Aug 5. Genet Med. 2023. PMID: 37551667 Free article.
X-Linked intellectual disability update 2022.
Schwartz CE, Louie RJ, Toutain A, Skinner C, Friez MJ, Stevenson RE. Schwartz CE, et al. Among authors: skinner c. Am J Med Genet A. 2023 Jan;191(1):144-159. doi: 10.1002/ajmg.a.63008. Epub 2022 Oct 27. Am J Med Genet A. 2023. PMID: 36300573
Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders.
McGee SR, Rajamanickam S, Adhikari S, Falayi OC, Wilson TA, Shayota BJ, Cooley Coleman JA, Skinner C, Caylor RC, Stevenson RE, Quaio CRAC, Wilke BC, Bain JM, Anyane-Yeboa K, Brown K, Greally JM, Bijlsma EK, Ruivenkamp CAL, Politi K, Arbogast LA, Collard MW, Huggenvik JI, Elsea SH, Jensik PJ. McGee SR, et al. Among authors: skinner c. Hum Mol Genet. 2023 Jan 13;32(3):386-401. doi: 10.1093/hmg/ddac200. Hum Mol Genet. 2023. PMID: 35981081 Free PMC article.
Autistic Disorder: A 20 Year Chronicle.
Skinner C, Pauly R, Skinner SA, Schroer RJ, Simensen RJ, Taylor HA, Friez MJ, DuPont BR, Stevenson RE. Skinner C, et al. J Autism Dev Disord. 2021 Feb;51(2):677-684. doi: 10.1007/s10803-020-04568-3. J Autism Dev Disord. 2021. PMID: 32592095
Eye movement defects in KO zebrafish reveals SRPK3 as a causative gene for an X-linked intellectual disability.
Lee YR, Thomas MG, Roychaudhury A, Skinner C, Maconachie G, Crosier M, Horak H, Constantinescu CS, Choi TI, Kyung JJ, Wang T, Ku B, Chodirker BN, Hammer MF, Gottlob I, Norton WHJ, Chudley AE, Schwartz CE, Kim CH. Lee YR, et al. Among authors: skinner c. Res Sq [Preprint]. 2023 Mar 20:rs.3.rs-2683050. doi: 10.21203/rs.3.rs-2683050/v1. Res Sq. 2023. PMID: 36993381 Free PMC article. Preprint.
Sleep disturbances in Phelan-McDermid syndrome: Clinical and metabolic profiling of 56 individuals.
Moffitt BA, Oberman LM, Beamer L, Srikanth S, Jain L, Cascio L, Jones K, Pauly R, May M, Skinner C, Buchanan C, DuPont BR, Kaufmann WE, Valentine K, Ward LD, Ivankovic D, Rogers RC, Phelan K, Sarasua SM, Boccuto L. Moffitt BA, et al. Among authors: skinner c. Clin Genet. 2023 Aug;104(2):198-209. doi: 10.1111/cge.14361. Epub 2023 May 18. Clin Genet. 2023. PMID: 37198960
Increased p53 signaling impairs neural differentiation in HUWE1-promoted intellectual disabilities.
Aprigliano R, Aksu ME, Bradamante S, Mihaljevic B, Wang W, Rian K, Montaldo NP, Grooms KM, Fordyce Martin SL, Bordin DL, Bosshard M, Peng Y, Alexov E, Skinner C, Liabakk NB, Sullivan GJ, Bjørås M, Schwartz CE, van Loon B. Aprigliano R, et al. Among authors: skinner c. Cell Rep Med. 2021 Apr 8;2(4):100240. doi: 10.1016/j.xcrm.2021.100240. eCollection 2021 Apr 20. Cell Rep Med. 2021. PMID: 33948573 Free PMC article.
75 results