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The CHD8/CHD7/Kismet family links blood-brain barrier glia and serotonin to ASD-associated sleep defects.
Coll-Tané M, Gong NN, Belfer SJ, van Renssen LV, Kurtz-Nelson EC, Szuperak M, Eidhof I, van Reijmersdal B, Terwindt I, Durkin J, Verheij MMM, Kim CN, Hudac CM, Nowakowski TJ, Bernier RA, Pillen S, Earl RK, Eichler EE, Kleefstra T, Kayser MS, Schenck A. Coll-Tané M, et al. Among authors: schenck a. Sci Adv. 2021 Jun 4;7(23):eabe2626. doi: 10.1126/sciadv.abe2626. Print 2021 Jun. Sci Adv. 2021. PMID: 34088660 Free PMC article.
SnapShot: Biology of Genetic Ataxias.
Eidhof I, van de Warrenburg BP, Schenck A. Eidhof I, et al. Among authors: schenck a. Cell. 2018 Oct 18;175(3):890-890.e1. doi: 10.1016/j.cell.2018.10.017. Cell. 2018. PMID: 30340048 Free article. Review.
Habituation Learning Is a Widely Affected Mechanism in Drosophila Models of Intellectual Disability and Autism Spectrum Disorders.
Fenckova M, Blok LER, Asztalos L, Goodman DP, Cizek P, Singgih EL, Glennon JC, IntHout J, Zweier C, Eichler EE, von Reyn CR, Bernier RA, Asztalos Z, Schenck A. Fenckova M, et al. Among authors: schenck a. Biol Psychiatry. 2019 Aug 15;86(4):294-305. doi: 10.1016/j.biopsych.2019.04.029. Epub 2019 May 9. Biol Psychiatry. 2019. PMID: 31272685 Free PMC article.
The genetics of cognitive epigenetics.
Kleefstra T, Schenck A, Kramer JM, van Bokhoven H. Kleefstra T, et al. Among authors: schenck a. Neuropharmacology. 2014 May;80:83-94. doi: 10.1016/j.neuropharm.2013.12.025. Epub 2014 Jan 13. Neuropharmacology. 2014. PMID: 24434855 Review.
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
Stessman HAF, Willemsen MH, Fenckova M, Penn O, Hoischen A, Xiong B, Wang T, Hoekzema K, Vives L, Vogel I, Brunner HG, van der Burgt I, Ockeloen CW, Schuurs-Hoeijmakers JH, Klein Wassink-Ruiter JS, Stumpel C, Stevens SJC, Vles HS, Marcelis CM, van Bokhoven H, Cantagrel V, Colleaux L, Nicouleau M, Lyonnet S, Bernier RA, Gerdts J, Coe BP, Romano C, Alberti A, Grillo L, Scuderi C, Nordenskjöld M, Kvarnung M, Guo H, Xia K, Piton A, Gerard B, Genevieve D, Delobel B, Lehalle D, Perrin L, Prieur F, Thevenon J, Gecz J, Shaw M, Pfundt R, Keren B, Jacquette A, Schenck A, Eichler EE, Kleefstra T. Stessman HAF, et al. Among authors: schenck a. Am J Hum Genet. 2016 Mar 3;98(3):541-552. doi: 10.1016/j.ajhg.2016.02.004. Am J Hum Genet. 2016. PMID: 26942287 Free PMC article.
De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.
Lugtenberg D, Reijnders MR, Fenckova M, Bijlsma EK, Bernier R, van Bon BW, Smeets E, Vulto-van Silfhout AT, Bosch D, Eichler EE, Mefford HC, Carvill GL, Bongers EM, Schuurs-Hoeijmakers JH, Ruivenkamp CA, Santen GW, van den Maagdenberg AM, Peeters-Scholte CM, Kuenen S, Verstreken P, Pfundt R, Yntema HG, de Vries PF, Veltman JA, Hoischen A, Gilissen C, de Vries BB, Schenck A, Kleefstra T, Vissers LE. Lugtenberg D, et al. Among authors: schenck a. Eur J Hum Genet. 2016 Aug;24(8):1145-53. doi: 10.1038/ejhg.2015.282. Epub 2016 Jan 13. Eur J Hum Genet. 2016. PMID: 26757981 Free PMC article.
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
Stessman HA, Xiong B, Coe BP, Wang T, Hoekzema K, Fenckova M, Kvarnung M, Gerdts J, Trinh S, Cosemans N, Vives L, Lin J, Turner TN, Santen G, Ruivenkamp C, Kriek M, van Haeringen A, Aten E, Friend K, Liebelt J, Barnett C, Haan E, Shaw M, Gecz J, Anderlid BM, Nordgren A, Lindstrand A, Schwartz C, Kooy RF, Vandeweyer G, Helsmoortel C, Romano C, Alberti A, Vinci M, Avola E, Giusto S, Courchesne E, Pramparo T, Pierce K, Nalabolu S, Amaral DG, Scheffer IE, Delatycki MB, Lockhart PJ, Hormozdiari F, Harich B, Castells-Nobau A, Xia K, Peeters H, Nordenskjöld M, Schenck A, Bernier RA, Eichler EE. Stessman HA, et al. Among authors: schenck a. Nat Genet. 2017 Apr;49(4):515-526. doi: 10.1038/ng.3792. Epub 2017 Feb 13. Nat Genet. 2017. PMID: 28191889 Free PMC article.
Genetics, molecular control and clinical relevance of habituation learning.
Blok LER, Boon M, van Reijmersdal B, Höffler KD, Fenckova M, Schenck A. Blok LER, et al. Among authors: schenck a. Neurosci Biobehav Rev. 2022 Dec;143:104883. doi: 10.1016/j.neubiorev.2022.104883. Epub 2022 Sep 21. Neurosci Biobehav Rev. 2022. PMID: 36152842 Free article. Review.
181 results