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Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Weerts MJA, Lanko K, Guzmán-Vega FJ, Jackson A, Ramakrishnan R, Cardona-Londoño KJ, Peña-Guerra KA, van Bever Y, van Paassen BW, Kievit A, van Slegtenhorst M, Allen NM, Kehoe CM, Robinson HK, Pang L, Banu SH, Zaman M, Efthymiou S, Houlden H, Järvelä I, Lauronen L, Määttä T, Schrauwen I, Leal SM, Ruivenkamp CAL, Barge-Schaapveld DQCM, Peeters-Scholte CMPCD, Galehdari H, Mazaheri N, Sisodiya SM, Harrison V, Sun A, Thies J, Pedroza LA, Lara-Taranchenko Y, Chinn IK, Lupski JR, Garza-Flores A, McGlothlin J, Yang L, Huang S, Wang X, Jewett T, Rosso G, Lin X, Mohammed S, Merritt JL 2nd, Mirzaa GM, Timms AE, Scheck J, Elting MW, Polstra AM, Schenck L, Ruzhnikov MRZ, Vetro A, Montomoli M, Guerrini R, Koboldt DC, Mosher TM, Pastore MT, McBride KL, Peng J, Pan Z, Willemsen M, Koning S, Turnpenny PD, de Vries BBA, Gilissen C, Pfundt R, Lees M, Braddock SR, Klemp KC, Vansenne F, van Gijn ME, Quindipan C, Deardorff MA, Hamm JA, Putnam AM, Baud R, Walsh L, Lynch SA, Baptista J, Person RE, Monaghan KG, Crunk A, Keller-Ramey J, Reich A, Elloumi HZ, Alders M, Kerkhof J, McConkey H, Haghshenas S; Genomics England Research Consortium; Maroofian R, Sadikovic B, Banka S, Aro… See abstract for full author list ➔ Weerts MJA, et al. Among authors: van paassen bw, van gijn me, van bever y, van slegtenhorst m. Genet Med. 2021 Nov;23(11):2122-2137. doi: 10.1038/s41436-021-01246-2. Epub 2021 Aug 3. Genet Med. 2021. PMID: 34345025 Free PMC article.
Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data.
Fokkema IFAC, van der Velde KJ, Slofstra MK, Ruivenkamp CAL, Vogel MJ, Pfundt R, Blok MJ, Lekanne Deprez RH, Waisfisz Q, Abbott KM, Sinke RJ, Rahman R, Nijman IJ, de Koning B, Thijs G, Wieskamp N, Moritz RJG, Charbon B, Saris JJ, den Dunnen JT, Laros JFJ, Swertz MA, van Gijn ME. Fokkema IFAC, et al. Among authors: van der velde kj, van gijn me. Hum Mutat. 2019 Dec;40(12):2230-2238. doi: 10.1002/humu.23896. Epub 2019 Sep 3. Hum Mutat. 2019. PMID: 31433103 Free PMC article.
New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID).
Van Gijn ME, Ceccherini I, Shinar Y, Carbo EC, Slofstra M, Arostegui JI, Sarrabay G, Rowczenio D, Omoyımnı E, Balci-Peynircioglu B, Hoffman HM, Milhavet F, Swertz MA, Touitou I. Van Gijn ME, et al. J Med Genet. 2018 Aug;55(8):530-537. doi: 10.1136/jmedgenet-2017-105216. Epub 2018 Mar 29. J Med Genet. 2018. PMID: 29599418
Collodion babies: A 15-year retrospective multicenter study in The Netherlands-Evaluation of severity scores to predict the underlying disease.
Cuperus E, Bolling MC, de Graaf M, van den Akker PC, van Gijn ME, Simon MEH, Sigurdsson V, Pasmans SGMA. Cuperus E, et al. Among authors: van gijn me, van den akker pc. J Am Acad Dermatol. 2021 Apr;84(4):1111-1113. doi: 10.1016/j.jaad.2020.06.021. Epub 2020 Jun 12. J Am Acad Dermatol. 2021. PMID: 32534952 No abstract available.
National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies.
Elsink K, Huibers MMH, Hollink IHIM, van der Veken LT, Ernst RF, Simons A, Zonneveld-Huijssoon E, van der Hout AH, Abbott KM, Hoischen A, Pieterse M, Kuijpers TW, van Montfrans JM, van Gijn ME. Elsink K, et al. Among authors: van der hout ah, van gijn me, van der veken lt, van montfrans jm. Eur J Hum Genet. 2021 Jan;29(1):20-28. doi: 10.1038/s41431-020-0702-0. Epub 2020 Jul 30. Eur J Hum Genet. 2021. PMID: 32733070 Free PMC article.
Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centres.
van Gijn ME, Soler S, de la Chapelle C, Mulder M, Ritorre C, Kriek M, Philibert L, van der Wielen M, Frenkel J, Grandemange S, Bakker E, Ploos van Amstel JK, Touitou I. van Gijn ME, et al. Among authors: van der wielen m. Eur J Hum Genet. 2008 Nov;16(11):1404-6. doi: 10.1038/ejhg.2008.135. Epub 2008 Jul 23. Eur J Hum Genet. 2008. PMID: 18648395
Recurrence and variability of germline EPCAM deletions in Lynch syndrome.
Kuiper RP, Vissers LE, Venkatachalam R, Bodmer D, Hoenselaar E, Goossens M, Haufe A, Kamping E, Niessen RC, Hogervorst FB, Gille JJ, Redeker B, Tops CM, van Gijn ME, van den Ouweland AM, Rahner N, Steinke V, Kahl P, Holinski-Feder E, Morak M, Kloor M, Stemmler S, Betz B, Hutter P, Bunyan DJ, Syngal S, Culver JO, Graham T, Chan TL, Nagtegaal ID, van Krieken JH, Schackert HK, Hoogerbrugge N, van Kessel AG, Ligtenberg MJ. Kuiper RP, et al. Among authors: van gijn me, van den ouweland am, van krieken jh, van kessel ag. Hum Mutat. 2011 Apr;32(4):407-14. doi: 10.1002/humu.21446. Epub 2011 Mar 1. Hum Mutat. 2011. PMID: 21309036
Guidelines for the genetic diagnosis of hereditary recurrent fevers.
Shinar Y, Obici L, Aksentijevich I, Bennetts B, Austrup F, Ceccherini I, Costa JM, De Leener A, Gattorno M, Kania U, Kone-Paut I, Lezer S, Livneh A, Moix I, Nishikomori R, Ozen S, Phylactou L, Risom L, Rowczenio D, Sarkisian T, van Gijn ME, Witsch-Baumgartner M, Morris M, Hoffman HM, Touitou I; European Molecular Genetics Quality Network. Shinar Y, et al. Among authors: van gijn me. Ann Rheum Dis. 2012 Oct;71(10):1599-605. doi: 10.1136/annrheumdis-2011-201271. Epub 2012 Jun 1. Ann Rheum Dis. 2012. PMID: 22661645 Free PMC article.
Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies.
Nijman IJ, van Montfrans JM, Hoogstraat M, Boes ML, van de Corput L, Renner ED, van Zon P, van Lieshout S, Elferink MG, van der Burg M, Vermont CL, van der Zwaag B, Janson E, Cuppen E, Ploos van Amstel JK, van Gijn ME. Nijman IJ, et al. Among authors: van lieshout s, van gijn me, van der zwaag b, van de corput l, van der burg m, van montfrans jm, van zon p. J Allergy Clin Immunol. 2014 Feb;133(2):529-34. doi: 10.1016/j.jaci.2013.08.032. Epub 2013 Oct 15. J Allergy Clin Immunol. 2014. PMID: 24139496
83 results