NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield

Autor: Overwater, E., Floor, K., van Beek, D., de Boer, K., van Dijk, T., Hilhorst-Hofstee, Y., Hoogeboom, A.J.M., van Kaam, K.J., van de Kamp, J.M., Kempers, M., Krapels, I.P.C., Kroes, H.Y., Loeys, B., Salemink, S., Stumpel, C.T.R.M., Verhoeven, V.J.M., Wijnands-van den Berg, E., Cobben, J.M., van Tintelen, J.P., Weiss, M.M., Houweling, A.C., Maugeri, A.

Publikováno v: In European Journal of Medical Genetics September 2017 60(9):465-473

Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort

Autor: van den Bersselaar, L., Rompen, E., Kurul, S., Kempers, M., Houweling, A., Overwater, E., Hilhorst, Y., Barge-Schaapveld, D., Krapels, I., Dulfer, E., Wessels, M., Loeys, B., Bekkers, J., Bruggenwirth, H., Maugeri, A., Roos-Hesselink, J., Verhagen, J., van de laar, I.

Publikováno v: European Journal of Human Genetics, 28(SUPPL 1), 258-258. Nature Publishing Group
van den Bersselaar, L, Rompen, E, Kurul, S, Kempers, M, Houweling, A, Overwater, E, Hilhorst, Y, Barge-Schaapveld, D, Krapels, I, Dulfer, E, Wessels, M, Loeys, B, Bekkers, J, Bruggenwirth, H, Maugeri, A, Roos-Hesselink, J, Verhagen, J & van de laar, I 2020, ' Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort ', European Journal of Human Genetics, vol. 28, no. SUPPL 1, pp. 258-258 .

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d105b02b416fdeda5e4668a25e504c9f
https://research.vumc.nl/en/publications/83e6594f-ad84-43e3-9c4b-a6d20ac4a2ff

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

Autor: Konrad, E. D. (Enrico D. H.), Nardini, N. (Niels), Caliebe, A. (Almuth), Nagel, I. (Inga), Young, D. (Dana), Horvath, G. (Gabriella), Santoro, S. L. (Stephanie L.), Shuss, C. (Christine), Ziegler, A. (Alban), Bonneau, D. (Dominique), Kempers, M. (Marlies), Pfundt, R. (Rolph), Legius, E. (Eric), Bouman, A. (Arjan), Stuurman, K. E. (Kyra E.), Õunap, K. (Katrin), Pajusalu, S. (Sander), Wojcik, M. H. (Monica H.), Vasileiou, G. (Georgia), Le Guyader, G. (Gwenaël), Schnelle, H. M. (Hege M.), Berland, S. (Siren), Zonneveld-Huijssoon, E. (Evelien), Kersten, S. (Simone), Gupta, A. (Aditi), Blackburn, P. R. (Patrick R.), Ellingson, M. S. (Marissa S.), Ferber, M. J. (Matthew J.), Dhamija, R. (Radhika), Klee, E. W. (Eric W.), McEntagart, M. (Meriel), Lichtenbelt, K. D. (Klaske D.), Kenney, A. (Amy), Vergano, S. A. (Samantha A.), Jamra, R. A. (Rami Abou), Platzer, K. (Konrad), Pierpont, M. E. (Mary Ella), Khattar, D. (Divya), Hopkin, R. J. (Robert J.), Martin, R. J. (Richard J.), Jongmans, M. C. (Marjolijn C. J.), Chang, V. Y. (Vivian Y.), Martinez-Agosto, J. A. (Julian A.), Kuismin, O. (Outi), Kurki, M. I. (Mitja I.), Pietiläinen, O. (Olli), Palotie, A. (Aarno), Maarup, T. J. (Timothy J.), Johnson, D. S. (Diana S.), Venborg Pedersen, K. (Katja), Laulund, L. W. (Lone W.), Lynch, S. A. (Sally A.), Blyth, M. (Moira), Prescott, K. (Katrina), Canham, N. (Natalie), Ibitoye, R. (Rita), Brilstra, E. H. (Eva H.), Shinawi, M. (Marwan), Fassi, E. (Emily), Study, D. (DDD), Sticht, H. (Heinrich), Gregor, A. (Anne), Van Esch, H. (Hilde), Zweier, C. (Christiane)

Purpose: Pathogenic variants in the chromatin organizer CTCF were previously reported in seven individuals with a neurodevelopmental disorder (NDD). Methods: Through international collaboration we collected data from 39 subjects with variants in CTCF

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1ab8b0b41ee0f8f1e126d26962f09d3b
https://openaccess.sgul.ac.uk/id/eprint/111563/1/s41436-019-0585-z.pdf

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