Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

56 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Congenital hydrocephalus in clinical practice: a genetic diagnostic approach.
Verhagen JM, Schrander-Stumpel CT, Krapels IP, de Die-Smulders CE, van Lint FH, Willekes C, Weber JW, Gavilanes AW, Macville MV, Stegmann AP, Engelen JJ, Bakker J, Vos YJ, Frints SG. Verhagen JM, et al. Among authors: krapels ip. Eur J Med Genet. 2011 Nov-Dec;54(6):e542-7. doi: 10.1016/j.ejmg.2011.06.005. Epub 2011 Jul 30. Eur J Med Genet. 2011. PMID: 21839187
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis.
Smit DL, Mensenkamp AR, Badeloe S, Breuning MH, Simon ME, van Spaendonck KY, Aalfs CM, Post JG, Shanley S, Krapels IP, Hoefsloot LH, van Moorselaar RJ, Starink TM, Bayley JP, Frank J, van Steensel MA, Menko FH. Smit DL, et al. Among authors: krapels ip. Clin Genet. 2011 Jan;79(1):49-59. doi: 10.1111/j.1399-0004.2010.01486.x. Clin Genet. 2011. PMID: 20618355
NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield.
Overwater E, Floor K, van Beek D, de Boer K, van Dijk T, Hilhorst-Hofstee Y, Hoogeboom AJM, van Kaam KJ, van de Kamp JM, Kempers M, Krapels IPC, Kroes HY, Loeys B, Salemink S, Stumpel CTRM, Verhoeven VJM, Wijnands-van den Berg E, Cobben JM, van Tintelen JP, Weiss MM, Houweling AC, Maugeri A. Overwater E, et al. Eur J Med Genet. 2017 Sep;60(9):465-473. doi: 10.1016/j.ejmg.2017.06.005. Epub 2017 Jun 19. Eur J Med Genet. 2017. PMID: 28642162
Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.
Overwater E, Marsili L, Baars MJH, Baas AF, van de Beek I, Dulfer E, van Hagen JM, Hilhorst-Hofstee Y, Kempers M, Krapels IP, Menke LA, Verhagen JMA, Yeung KK, Zwijnenburg PJG, Groenink M, van Rijn P, Weiss MM, Voorhoeve E, van Tintelen JP, Houweling AC, Maugeri A. Overwater E, et al. Among authors: krapels ip. Hum Mutat. 2018 Sep;39(9):1173-1192. doi: 10.1002/humu.23565. Epub 2018 Jul 12. Hum Mutat. 2018. PMID: 29907982 Free PMC article.
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
Westra D, Schouten MI, Stunnenberg BC, Kusters B, Saris CGJ, Erasmus CE, van Engelen BG, Bulk S, Verschuuren-Bemelmans CC, Gerkes EH, de Geus C, van der Zwaag PA, Chan S, Chung B, Barge-Schaapveld DQCM, Kriek M, Sznajer Y, van Spaendonck-Zwarts K, van der Kooi AJ, Krause A, Schönewolf-Greulich B, de Die-Smulders C, Sallevelt SCEH, Krapels IPC, Rasmussen M, Maystadt I, Kievit AJA, Witting N, Pennings M, Meijer R, Gillissen C, Kamsteeg EJ, Voermans NC. Westra D, et al. J Neuromuscul Dis. 2019;6(2):241-258. doi: 10.3233/JND-180376. J Neuromuscul Dis. 2019. PMID: 31127727
Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort.
van den Bersselaar LM, Verhagen JMA, Bekkers JA, Kempers M, Houweling AC, Baars M, Overwater E, Hilhorst-Hofstee Y, Barge-Schaapveld DQCM, Rompen E, Krapels IPC, Dulfer E, Wessels MW, Loeys BL, Verhagen HJM, Maugeri A, Roos-Hesselink JW, Brüggenwirth HT, van de Laar IMBH. van den Bersselaar LM, et al. Among authors: krapels ipc. Genet Med. 2022 Oct;24(10):2112-2122. doi: 10.1016/j.gim.2022.07.009. Epub 2022 Sep 2. Genet Med. 2022. PMID: 36053285 Free article.
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HI, Aracena MI, Aylsworth AS, Bitoun P, Carey JC, Clericuzio CL, Crow YJ, Curry CJ, Devriendt K, Everman DB, Fryer A, Gibson K, Giovannucci Uzielli ML, Graham JM Jr, Hall JG, Hecht JT, Heidenreich RA, Hurst JA, Irani S, Krapels IP, Leroy JG, Mowat D, Plant GT, Robertson SP, Schorry EK, Scott RH, Seaver LH, Sherr E, Splitt M, Stewart H, Stumpel C, Temel SG, Weaver DD, Whiteford M, Williams MS, Tabor HK, Smith JD, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics; Bamshad MJ. McMillin MJ, et al. Among authors: krapels ip. Am J Hum Genet. 2014 May 1;94(5):734-44. doi: 10.1016/j.ajhg.2014.03.015. Epub 2014 Apr 10. Am J Hum Genet. 2014. PMID: 24726473 Free PMC article.
Rare novel variants in the ZIC3 gene cause X-linked heterotaxy.
Paulussen AD, Steyls A, Vanoevelen J, van Tienen FH, Krapels IP, Claes GR, Chocron S, Velter C, Tan-Sindhunata GM, Lundin C, Valenzuela I, Nagy B, Bache I, Maroun LL, Avela K, Brunner HG, Smeets HJ, Bakkers J, van den Wijngaard A. Paulussen AD, et al. Among authors: krapels ip. Eur J Hum Genet. 2016 Dec;24(12):1783-1791. doi: 10.1038/ejhg.2016.91. Epub 2016 Jul 13. Eur J Hum Genet. 2016. PMID: 27406248 Free PMC article.
Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD.
Granadillo JL, P A Stegmann A, Guo H, Xia K, Angle B, Bontempo K, Ranells JD, Newkirk P, Costin C, Viront J, Stumpel CT, Sinnema M, Panis B, Pfundt R, Krapels IPC, Klaassens M, Nicolai J, Li J, Jiang Y, Marco E, Canton A, Latronico AC, Montenegro L, Leheup B, Bonnet C, M Amudhavalli S, Lawson CE, McWalter K, Telegrafi A, Pearson R, Kvarnung M, Wang X, Bi W, Rosenfeld JA, Shinawi M. Granadillo JL, et al. J Med Genet. 2020 Oct;57(10):717-724. doi: 10.1136/jmedgenet-2019-106470. Epub 2020 Mar 9. J Med Genet. 2020. PMID: 32152250
56 results