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Saskia Wortmann

Priv.-Doz. Dr. med., PhD

20032024

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  • 2022

    Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families (vol 7, 32, 2021)

    Spenger, J. (First author), Maier, E., Wechselberger, K., Bauder, F., Kocher, M., Sperl, W. (Co-author), Preisel, M., Schiergens, K., Konstantopoulou, V., Roschinger, W., Haberle, J., Schmitt-Mechelke, T., Wortmann, S. (Co-author) & Fingerhut, R., 2022, In: INTERNATIONAL JOURNAL OF NEONATAL SCREENING. 8, 1, p. 2

    Research output: Contribution to journal › Correction › peer-review

  • PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.

    Guimier, A., Achleitner, M., Moreau de Bellaing, A., Edwards, M., de Pontual, L., Mittal, K., Dunn, K. E., Grove, M. E., Tysoe, C. J., Dimartino, C., Cameron, J., Kanthi, A., Shukla, A., van den Broek, F., Chatterjee, D., Alston, C. L., Knowles, C. V., Brett, L., Till, J. A. & Homfray, T. & 40 others, French, P., Spentzou, G., Elserafy, N. A., Lichkus, K. S., Sankaran, B. P., Kennedy, H. L., George, P. M., Kidd, A., Wortmann, S. (Co-author), Fisk, D. G., Koopmann, T. T., Rafiq, M. A., Merker, J. D., Parikh, S., Ahimaz, P., Weintraub, R. G., Ma, A. S., Turner, C., Ellaway, C. J., Phillips, L. K., Thorburn, D. R., Chung, W. K., Kana, S. L., Faye-Petersen, O. M., Thompson, M. L., Janin, A., McLeod, K., McGowan, R., McFarland, R., Girisha, K. M., Morris-Rosendahl, D. J., Hurst, A. C. E., Turner, C. L. S., Hamilton, R. M., Taylor, R. W., Bajolle, F., Gordon, C. T., Amiel, J., Mayr, J. A. (Co-author) & Doudney, K., 2022, In: GENETICS IN MEDICINE . 24, 4, p. 967

    Research output: Contribution to journal › Correction › peer-review

    2 Citations (Web of Science)
  • 2021

    Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.

    Klöckner, C., Sticht, H., Zacher, P., Popp, B., Babcock, H. E., Bakker, D. P., Barwick, K., Bonfert, M. V., Bönnemann, C. G., Brilstra, E. H., Chung, W. K., Clarke, A. J., Devine, P., Donkervoort, S., Fraser, J. L., Friedman, J., Gates, A., Ghoumid, J., Hobson, E. & Horvath, G. & 38 others, Keller-Ramey, J., Keren, B., Kurian, M. A., Lee, V., Leppig, K. A., Lundgren, J., McDonald, M. T., McLaughlin, H. M., McTague, A., Mefford, H. C., Mignot, C., Mikati, M. A., Nava, C., Raymond, F. L., Sampson, J. R., Sanchis-Juan, A., Shashi, V., Shieh, J. T. C., Shinawi, M., Slavotinek, A., Stödberg, T., Stong, N., Sullivan, J. A., Taylor, A. C., Toler, T. L., van den Boogaard, M.-J., van der Crabben, S. N., van Gassen, K. L. I., van Jaarsveld, R. H., Van Ziffle, J., Wadley, A. F., Wagner, M., Wigby, K., Wortmann, S. (Co-author), Zarate, Y. A., Møller, R. S., Lemke, J. R. & Platzer, K., 2021, In: GENETICS IN MEDICINE . 23, 4, p. 796

    Research output: Contribution to journal › Correction › peer-review

    1 Citation (Web of Science)

  • Correction to: Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety.

    Zweers, H., van Wegberg, A. M. J., Janssen, M. C. H. & Wortmann, S., 2021, In: ORPHANET JOURNAL OF RARE DISEASES. 16, 1, p. 397

    Research output: Contribution to journal › Correction › peer-review

  • Correction to: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.

    Wortmann, S., Ziętkiewicz, S., Guerrero-Castillo, S., Feichtinger, R. G., Wagner, M., Russell, J., Ellaway, C., Mróz, D., Wyszkowski, H., Weis, D., Hannibal, I., von Stülpnagel, C. (Co-author), Cabrera-Orefice, A., Lichter-Konecki, U., Gaesser, J., Windreich, R., Myers, K. C., Lorsbach, R., Dale, R. C. & Gersting, S. & 6 others, Prada, C. E., Christodoulou, J., Wolf, N. I., Venselaar, H., Mayr, J. A. & Wevers, R. A., 2021, In: GENETICS IN MEDICINE . 23, 9, p. 1789

    Research output: Contribution to journal › Correction › peer-review

  • 2020

    Corrigendum to "Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases" [EBioMedicine 54 (2020) 102730].

    Tan, J., Wagner, M., Stenton, S. L., Strom, T. M., Wortmann, S., Prokisch, H., Meitinger, T., Oexle, K. & Klopstock, T., 2020, In: EBIOMEDICINE. 61, p. 103072

    Research output: Contribution to journal › Correction › peer-review

  • 2019

    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. & 59 others, Agbahovbe, 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., Monroe, G. R., van Gassen, K. L. I., van Binsbergen, E., Newbury-Ecob, R., Bownass, L., Bader, I., Mayr, J. A., Wortmann, S., Jakielski, K. J., Strand, E. A., Kloth, K., Bierhals, T., Roberts, J. D., Petrovich, R. M., Machida, S., Kurumizaka, H., Lelieveld, S., Pfundt, R., Jansen, S., Deriziotis, P., Faivre, L., Thevenon, J., Assoum, M., Shriberg, L., Kleefstra, T., Brunner, H. G., Wade, P. A., Fisher, S. E. & Campeau, P. M., 2019, In: Nature Communications. 10, 1, p. 2079

    Research output: Contribution to journal › Correction › peer-review

    1 Citation (Web of Science)

  • 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. & 59 others, Agbahovbe, 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., Monroe, G. R., van Gassen, K. L. I., van Binsbergen, E., Newbury-Ecob, R., Bownass, L., Bader, I., Mayr, J. A., Wortmann, S., Jakielski, K. J., Strand, E. A., Kloth, K., Bierhals, T., Roberts, J. D., Petrovich, R. M., Machida, S., Kurumizaka, H., Lelieveld, S., Pfundt, R., Jansen, S., Deriziotis, P., Faivre, L., Thevenon, J., Assoum, M., Shriberg, L., Kleefstra, T., Brunner, H. G., Wade, P. A., Fisher, S. E. & Campeau, P. M., 2019, In: Nature Communications. 10, 1, p. 883

    Research output: Contribution to journal › Correction › peer-review