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Page 1
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.
Koolen DA, Pfundt R, Linda K, Beunders G, Veenstra-Knol HE, Conta JH, Fortuna AM, Gillessen-Kaesbach G, Dugan S, Halbach S, Abdul-Rahman OA, Winesett HM, Chung WK, Dalton M, Dimova PS, Mattina T, Prescott K, Zhang HZ, Saal HM, Hehir-Kwa JY, Willemsen MH, Ockeloen CW, Jongmans MC, Van der Aa N, Failla P, Barone C, Avola E, Brooks AS, Kant SG, Gerkes EH, Firth HV, Õunap K, Bird LM, Masser-Frye D, Friedman JR, Sokunbi MA, Dixit A, Splitt M; DDD Study; Kukolich MK, McGaughran J, Coe BP, Flórez J, Nadif Kasri N, Brunner HG, Thompson EM, Gecz J, Romano C, Eichler EE, de Vries BB. Koolen DA, et al. Among authors: linda k. Eur J Hum Genet. 2016 May;24(5):652-9. doi: 10.1038/ejhg.2015.178. Epub 2015 Aug 26. Eur J Hum Genet. 2016. PMID: 26306646 Free PMC article.
Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition.
Arbogast T, Iacono G, Chevalier C, Afinowi NO, Houbaert X, van Eede MC, Laliberte C, Birling MC, Linda K, Meziane H, Selloum M, Sorg T, Nadif Kasri N, Koolen DA, Stunnenberg HG, Henkelman RM, Kopanitsa M, Humeau Y, De Vries BBA, Herault Y. Arbogast T, et al. Among authors: linda k. PLoS Genet. 2017 Jul 13;13(7):e1006886. doi: 10.1371/journal.pgen.1006886. eCollection 2017 Jul. PLoS Genet. 2017. PMID: 28704368 Free PMC article.
Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling.
Frega M, Linda K, Keller JM, Gümüş-Akay G, Mossink B, van Rhijn JR, Negwer M, Klein Gunnewiek T, Foreman K, Kompier N, Schoenmaker C, van den Akker W, van der Werf I, Oudakker A, Zhou H, Kleefstra T, Schubert D, van Bokhoven H, Nadif Kasri N. Frega M, et al. Among authors: linda k. Nat Commun. 2019 Oct 30;10(1):4928. doi: 10.1038/s41467-019-12947-3. Nat Commun. 2019. PMID: 31666522 Free PMC article.
m.3243A > G-Induced Mitochondrial Dysfunction Impairs Human Neuronal Development and Reduces Neuronal Network Activity and Synchronicity.
Klein Gunnewiek TM, Van Hugte EJH, Frega M, Guardia GS, Foreman K, Panneman D, Mossink B, Linda K, Keller JM, Schubert D, Cassiman D, Rodenburg R, Vidal Folch N, Oglesbee D, Perales-Clemente E, Nelson TJ, Morava E, Nadif Kasri N, Kozicz T. Klein Gunnewiek TM, et al. Among authors: linda k. Cell Rep. 2020 Apr 21;31(3):107538. doi: 10.1016/j.celrep.2020.107538. Cell Rep. 2020. PMID: 32320658 Free article.
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.
Polla DL, Farazi Fard MA, Tabatabaei Z, Habibzadeh P, Levchenko OA, Nikuei P, Makrythanasis P, Hussain M, von Hardenberg S, Zeinali S, Fallah MS, Schuurs-Hoeijmakers JHM, Shahzad M, Fatima F, Fatima N, Kaat LD, Bruggenwirth HT, Fleming LR, Condie J, Ploski R, Pollak A, Pilch J, Demina NA, Chukhrova AL, Sergeeva VS, Venselaar H, Masri AT, Hamamy H, Santoni FA, Linda K, Ahmed ZM, Nadif Kasri N, de Brouwer APM, Bergmann AK, Hethey S, Yavarian M, Ansar M, Riazuddin S, Riazuddin S, Silawi M, Ruggeri G, Pirozzi F, Eftekhar E, Taghipour Sheshdeh A, Bahramjahan S, Mirzaa GM, Lavrov AV, Antonarakis SE, Faghihi MA, van Bokhoven H. Polla DL, et al. Among authors: linda k. Genet Med. 2021 Jul;23(7):1246-1254. doi: 10.1038/s41436-021-01133-w. Epub 2021 Apr 6. Genet Med. 2021. PMID: 33824500 Free PMC article.
Cadherin-13 is a critical regulator of GABAergic modulation in human stem-cell-derived neuronal networks.
Mossink B, van Rhijn JR, Wang S, Linda K, Vitale MR, Zöller JEM, van Hugte EJH, Bak J, Verboven AHA, Selten M, Negwer M, Latour BL, van der Werf I, Keller JM, Klein Gunnewiek TM, Schoenmaker C, Oudakker A, Anania A, Jansen S, Lesch KP, Frega M, van Bokhoven H, Schubert D, Nadif Kasri N. Mossink B, et al. Among authors: linda k. Mol Psychiatry. 2022 Jan;27(1):1-18. doi: 10.1038/s41380-021-01117-x. Epub 2021 May 10. Mol Psychiatry. 2022. PMID: 33972691 Free PMC article.
Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders.
Linda K, Lewerissa EI, Verboven AHA, Gabriele M, Frega M, Klein Gunnewiek TM, Devilee L, Ulferts E, Hommersom M, Oudakker A, Schoenmaker C, van Bokhoven H, Schubert D, Testa G, Koolen DA, de Vries BBA, Nadif Kasri N. Linda K, et al. Autophagy. 2022 Feb;18(2):423-442. doi: 10.1080/15548627.2021.1936777. Epub 2021 Jul 21. Autophagy. 2022. PMID: 34286667 Free PMC article.
16 results