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Alexander Stegmann

 https://orcid.org/0000-0002-9736-7137
20102024

Research activity per year

  • 73 Article
  • 5 Erratum / corrigendum / retractions
  • 4 (Systematic) Review article
  • 3 Comment/Letter to the editor
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Erratum / corrigendum / retractions

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  • 2018

    De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder (vol 101, pg 716, 2017)

    DDD Study & C4RCD Res Grp, 4 Jan 2018, In: American Journal of Human Genetics. 102, 1, p. 196-196 1 p.

    Research output: Contribution to journal › Erratum / corrigendum / retractions › Academic

    Open Access
  • 2019

    Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

    Blok, L. S., Rousseau, J., Twist, J., Ehresmann, S., Takaku, M., Venselaar, H., Rodan, L. H., Nowak, C. B., Douglas, J., Swoboda, K. J., Steeves, M. A., Sahai, I., Stumpel, C. T. R. M., Stegmann, A. P. A., Wheeler, P., Willing, M., Fiala, E., Kochhar, A., Gibson, W. T., Cohen, A. S. A., & 33 othersAgbahovbe, R., Innes, A. M., Au, P. Y. B., Rankin, J., Anderson, I. J., Skinner, S. A., Louie, R. J., Warren, H. E., Afenjar, A., Keren, B., Nava, C., Buratti, J., Isapof, A., Rodriguez, D., Lewandowski, R., Propst, J., van Essen, T., Choi, M., Lee, S., Chae, J. H., Price, S., Schnur, R. E., Douglas, G., Wentzensen, I. M., Zweier, C., Reis, A., Bialer, M. G., Moore, C., Koopmans, M., Brilstra, E. H., DDD Study, Fisher, S. E. & Campeau, P. M., 15 Feb 2019, In: Nature Communications. 10, p. 1-4 4 p., 883.

    Research output: Contribution to journal › Erratum / corrigendum / retractions › Academic

    Open Access

  • Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

    Snijders Blok, L., Rousseau, J., Twist, J., Ehresmann, S., Takaku, M., Venselaar, H., Rodan, L. H., Nowak, C. B., Douglas, J., Swoboda, K. J., Steeves, M. A., Sahai, I., Stumpel, C. T. R. M., Stegmann, A. P. A., Wheeler, P., Willing, M., Fiala, E., Kochhar, A., Gibson, W. T., Cohen, A. S. A., & 33 othersAgbahovbe, R., Innes, A. M., Au, P. Y. B., Rankin, J., Anderson, I. J., Skinner, S. A., Louie, R. J., Warren, H. E., Afenjar, A., Keren, B., Nava, C., Buratti, J., Isapof, A., Rodriguez, D., Lewandowski, R., Propst, J., van Essen, T., Choi, M., Lee, S., Chae, J. H., Price, S., Schnur, R. E., Douglas, G., Wentzensen, I. M., Zweier, C., Reis, A., Bialer, M. G., Moore, C., Jansen, S., Brunner, H. G., DDD Study, Fisher, S. E. & Campeau, P. M., 2 May 2019, In: Nature Communications. 10, 4 p., 2079.

    Research output: Contribution to journal › Erratum / corrigendum / retractions › Academic

    Open Access

  • Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome: from nonsyndromic intellectual disability to Coffin-Siris syndrome (vol 21, pg 1295, 2019)

    van der Sluijs, P. J., Jansen, S., Vergano, S. A., Adachi-Fukuda, M., Alanay, Y., AlKindy, A., Baban, A., Bayat, A., Beck-Woedl, S., Berry, K., Bijlsma, E. K., Bok, L. A., Brouwer, A. F. J., van der Burgt, I., Campeau, P. M., Canham, N., Chrzanowska, K., Chu, Y. W. Y., Chung, B. H. Y., Dahan, K., & 85 othersDe Rademaeker, M., Destree, A., Dudding-Byth, T., Earl, R., Elcioglu, N., Elias, E. R., Fagerberg, C., Gardham, A., Gener, B., Gerkes, E. H., Grasshoff, U., van Haeringen, A., Heitink, K. R., Herkert, J. C., den Hollander, N. S., Horn, D., Hunt, D., Kant, S. G., Kato, M., Kayserili, H., Kersseboom, R., Kilic, E., Krajewska-Walasek, M., Lammers, K., Laulund, L. W., Lederer, D., Lees, M., Lopez-Gonzalez, V., Maas, S., Mancini, G. M. S., Marcelis, C., Martinez, F., Maystadt, I., McGuire, M., Mckee, S., Mehta, S., Metcalfe, K., Milunsky, J., Mizuno, S., Moeschler, J. B., Netzer, C., Ockeloen, C. W., Oehl-Jaschkowitz, B., Okamoto, N., Olminkhof, S. N. M., Orellana, C., Pasquier, L., Pottinger, C., Riehmer, V., Robertson, S. P., Roifman, M., Rooryck, C., Ropers, F. G., Rosello, M., Ruivenkamp, C. A. L., Sagiroglu, M. S., Sallevelt, S. C. E. H., Calvo, A. S., Simsek-Kiper, P. O., Soares, G., Solaeche, L., Sonmez, F. M., Splitt, M., Steenbeek, D., Stegmann, A. P. A., Stumpel, C. T. R. M., Tanabe, S., Uctepe, E., Utine, G. E., Veenstra-Knol, H. E., Venkateswaran, S., Vilain, C., Vincent-Delorme, C., Vulto-van Silfhout, A. T., Wheeler, P., Wilson, G. N., Wilson, L. C., Wollnik, B., Kosho, T., Wieczorek, D., Eichler, E., Pfundt, R., de Vries, B. B. A., Clayton-Smith, J. & Santen, G. W. E., Sept 2019, In: Genetics in Medicine. 21, 9, p. 2160-2161 2 p.

    Research output: Contribution to journal › Erratum / corrigendum / retractions › Academic

    Open Access
  • 2023

    Correction Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

    de Boer, E., Ockeloen, C. W., Kampen, R. A., Hampstead, J. E., Dingemans, A. J. M., Rots, D., Lütje, L., Ashraf, T., Baker, R., Barat-Houari, M., Angle, B., Chatron, N., Denommé-Pichon, A-S., Devinsky, O., Dubourg, C., Elmslie, F., Elloumi, H. Z., Faivre, L., Fitzgerald-Butt, S., Geneviève, D., & 30 othersGoos, J. A. C., Helm, B. M., Kini, U., Lasa-Aranzasti, A., Lesca, G., Lynch, S. A., Mathijssen, I. M. J., McGowan, R., Monaghan, K. G., Odent, S., Pfundt, R., Putoux, A., van Reeuwijk, J., Santen, G. W. E., Sasaki, E., Sorlin, A., van der Spek, P. J., Stegmann, A. P. A., Swagemakers, S. M. A., Valenzuela, I., Viora-Dupont, E., Vitobello, A., Ware, S. M., Wéber, M., Gilissen, C., Low, K. J., Fisher, S. E., Vissers, L. E. L. M., Wong, M. M. K. & Kleefstra, T., Nov 2023, In: Genetics in Medicine. 25, 11, 3 p., 100962.

    Research output: Contribution to journal › Erratum / corrigendum / retractions › Academic

    Open Access