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Page 1
Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up Development.
Platzer K, Cogné B, Hague J, Marcelis CL, Mitter D, Oberndorff K, Park SM, Ploos van Amstel HK, Simonic I, van der Smagt JJ, Stegmann APA, Stevens SJC, Stumpel CTRM, Vincent M, Lemke JR, Jamra R. Platzer K, et al. Among authors: van der smagt jj. Ann Neurol. 2018 Aug;84(2):200-207. doi: 10.1002/ana.25278. Epub 2018 Aug 31. Ann Neurol. 2018. PMID: 30014507
MLL2 mutation spectrum in 45 patients with Kabuki syndrome.
Paulussen AD, Stegmann AP, Blok MJ, Tserpelis D, Posma-Velter C, Detisch Y, Smeets EE, Wagemans A, Schrander JJ, van den Boogaard MJ, van der Smagt J, van Haeringen A, Stolte-Dijkstra I, Kerstjens-Frederikse WS, Mancini GM, Wessels MW, Hennekam RC, Vreeburg M, Geraedts J, de Ravel T, Fryns JP, Smeets HJ, Devriendt K, Schrander-Stumpel CT. Paulussen AD, et al. Among authors: van der smagt j, van den boogaard mj, van haeringen a. Hum Mutat. 2011 Feb;32(2):E2018-25. doi: 10.1002/humu.21416. Epub 2010 Dec 7. Hum Mutat. 2011. PMID: 21280141
Manifest disease, risk factors for sudden cardiac death, and cardiac events in a large nationwide cohort of predictively tested hypertrophic cardiomyopathy mutation carriers: determining the best cardiological screening strategy.
Christiaans I, Birnie E, Bonsel GJ, Mannens MM, Michels M, Majoor-Krakauer D, Dooijes D, van Tintelen JP, van den Berg MP, Volders PG, Arens YH, van den Wijngaard A, Atsma DE, Helderman-van den Enden AT, Houweling AC, de Boer K, van der Smagt JJ, Hauer RN, Marcelis CL, Timmermans J, van Langen IM, Wilde AA. Christiaans I, et al. Among authors: van den berg mp, van langen im, van der smagt jj, van tintelen jp, van den wijngaard a. Eur Heart J. 2011 May;32(9):1161-70. doi: 10.1093/eurheartj/ehr092. Epub 2011 Apr 1. Eur Heart J. 2011. PMID: 21459882
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR. Platzer K, et al. Among authors: van haelst mm, van der smagt jj. J Med Genet. 2017 Jul;54(7):460-470. doi: 10.1136/jmedgenet-2016-104509. Epub 2017 Apr 4. J Med Genet. 2017. PMID: 28377535 Free PMC article.
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.
Van Dijck A, Vulto-van Silfhout AT, Cappuyns E, van der Werf IM, Mancini GM, Tzschach A, Bernier R, Gozes I, Eichler EE, Romano C, Lindstrand A, Nordgren A; ADNP Consortium; Kvarnung M, Kleefstra T, de Vries BBA, Küry S, Rosenfeld JA, Meuwissen ME, Vandeweyer G, Kooy RF. Van Dijck A, et al. Biol Psychiatry. 2019 Feb 15;85(4):287-297. doi: 10.1016/j.biopsych.2018.02.1173. Epub 2018 Mar 15. Biol Psychiatry. 2019. PMID: 29724491 Free PMC article.
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
Muir AM, Gardner JF, van Jaarsveld RH, de Lange IM, van der Smagt JJ, Wilson GN, Dubbs H, Goldberg EM, Zitano L, Bupp C, Martinez J, Srour M, Accogli A, Alhakeem A, Meltzer M, Gropman A, Brewer C, Caswell RC, Montgomery T, McKenna C, McKee S, Powell C, Vasudevan PC, Brady AF, Joss S, Tysoe C, Noh G, Tarnopolsky M, Brady L, Zafar M, Schrier Vergano SA, Murray B, Sawyer L, Hainline BE, Sapp K, DeMarzo D, Huismann DJ, Wentzensen IM, Schnur RE, Monaghan KG, Juusola J, Rhodes L, Dobyns WB, Lecoquierre F, Goldenberg A, Polster T, Axer-Schaefer S, Platzer K, Klöckner C, Hoffman TL, MacArthur DG, O'Leary MC, VanNoy GE, England E, Varghese VC, Mefford HC. Muir AM, et al. Among authors: van jaarsveld rh, van der smagt jj. Genet Med. 2021 May;23(5):881-887. doi: 10.1038/s41436-020-01076-8. Epub 2021 Jan 20. Genet Med. 2021. PMID: 33473207 Free PMC article.
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.
Cuinat S, Nizon M, Isidor B, Stegmann A, van Jaarsveld RH, van Gassen KL, van der Smagt JJ, Volker-Touw CML, Holwerda SJB, Terhal PA, Schuhmann S, Vasileiou G, Khalifa M, Nugud AA, Yasaei H, Ousager LB, Brasch-Andersen C, Deb W, Besnard T, Simon MEH, Amsterdam KH, Verbeek NE, Matalon D, Dykzeul N, White S, Spiteri E, Devriendt K, Boogaerts A, Willemsen M, Brunner HG, Sinnema M, De Vries BBA, Gerkes EH, Pfundt R, Izumi K, Krantz ID, Xu ZL, Murrell JR, Valenzuela I, Cusco I, Rovira-Moreno E, Yang Y, Bizaoui V, Patat O, Faivre L, Tran-Mau-Them F, Vitobello A, Denommé-Pichon AS, Philippe C, Bezieau S, Cogné B. Cuinat S, et al. Among authors: van der smagt jj. Genet Med. 2022 Aug;24(8):1774-1780. doi: 10.1016/j.gim.2022.04.011. Epub 2022 May 14. Genet Med. 2022. PMID: 35567594 Free article.
Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome.
McKie AB, Alsaedi A, Vogt J, Stuurman KE, Weiss MM, Shakeel H, Tee L, Morgan NV, Nikkels PG, van Haaften G, Park SM, van der Smagt JJ, Bugiani M, Maher ER. McKie AB, et al. Among authors: van haaften g, van der smagt jj. Acta Neuropathol Commun. 2014 Dec 5;2:148. doi: 10.1186/s40478-014-0148-0. Acta Neuropathol Commun. 2014. PMID: 25476234 Free PMC article.
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, Hančárová M, Hubert L, Ioos C, Ichikawa S, Janssens S, Journel H, Kaminska A, Keren B, Koopmans M, Lacoste C, Laššuthová P, Lederer D, Lehalle D, Marjanovic D, Métreau J, Michaud JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon MEH, Smol T, Shur N, Shelihan I, Štěrbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, Depienne C. Mignot C, et al. Among authors: van hasselt pm, van kempen m, van der smagt jj. Genet Med. 2019 Apr;21(4):837-849. doi: 10.1038/s41436-018-0268-1. Epub 2018 Sep 12. Genet Med. 2019. PMID: 30206421 Free PMC article.
Spectrum of KV 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders.
Kang SK, Vanoye CG, Misra SN, Echevarria DM, Calhoun JD, O'Connor JB, Fabre KL, McKnight D, Demmer L, Goldenberg P, Grote LE, Thiffault I, Saunders C, Strauss KA, Torkamani A, van der Smagt J, van Gassen K, Carson RP, Diaz J, Leon E, Jacher JE, Hannibal MC, Litwin J, Friedman NR, Schreiber A, Lynch B, Poduri A, Marsh ED, Goldberg EM, Millichap JJ, George AL Jr, Kearney JA. Kang SK, et al. Among authors: van der smagt j, van gassen k. Ann Neurol. 2019 Dec;86(6):899-912. doi: 10.1002/ana.25607. Epub 2019 Oct 24. Ann Neurol. 2019. PMID: 31600826 Free PMC article.
99 results