Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Kim M. G. Truijen"'
Autor:
Alexander J. M. Dingemans, Kim M. G. Truijen, Sam van de Ven, Raphael Bernier, Ernie M. H. F. Bongers, Arjan Bouman, Laura de Graaff – Herder, Evan E. Eichler, Erica H. Gerkes, Christa M. De Geus, Johanna M. van Hagen, Philip R. Jansen, Jennifer Kerkhof, Anneke J. A. Kievit, Tjitske Kleefstra, Saskia M. Maas, Stella A. de Man, Haley McConkey, Wesley G. Patterson, Amy T. Dobson, Eloise J. Prijoles, Bekim Sadikovic, Raissa Relator, Roger E. Stevenson, Connie T. R. M. Stumpel, Malou Heijligers, Kyra E. Stuurman, Katharina Löhner, Shimriet Zeidler, Jennifer A. Lee, Amanda Lindy, Fanggeng Zou, Matthew L. Tedder, Lisenka E. L. M. Vissers, Bert B. A. de Vries
Publikováno v:
Translational Psychiatry, Vol 12, Iss 1, Pp 1-11 (2022)
Abstract CHD8, a major autism gene, functions in chromatin remodelling and has various roles involving several biological pathways. Therefore, unsurprisingly, previous studies have shown that intellectual developmental disorder with autism and macroc
Externí odkaz:
https://doaj.org/article/7ea31eb997db422aa3beb7b35aae7a11
Autor:
Alexander J M Dingemans, Max Hinne, Kim M G Truijen, Lia Goltstein, Jeroen van Reeuwijk, Nicole de Leeuw, Janneke Schuurs-Hoeijmakers, Rolph Pfundt, Illja J Diets, Joery den Hoed, Elke de Boer, Jet Coenen-van der Spek, Sandra Jansen, Bregje W van Bon, Noraly Jonis, Charlotte Ockeloen, Anneke T Vulto-van Silfhout, Tjitske Kleefstra, David A Koolen, Hilde Van Esch, Gholson J Lyon, Fowzan S Alkuraya, Anita Rauch, Ronit Marom, Diana Baralle, Pleuntje J van der Sluijs, Gijs W E Santen, R Frank Kooy, Marcel A J van Gerven, Lisenka E L M Vissers, Bert B A de Vries
While both molecular and phenotypic data are essential when interpreting genetic variants, prediction scores (CADD, PolyPhen, and SIFT) have focused on molecular details to evaluate pathogenicity — omitting phenotypic features. To unlock the full p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bd22bb951772c3e14bec8543a332a92a
https://doi.org/10.1101/2022.10.24.22281480
https://doi.org/10.1101/2022.10.24.22281480
Autor:
Jeroen Ewals, Kim M G Truijen, Sandra Jansen, Jozef Gecz, Diante E Stremmelaar, David A. Koolen, Bert B.A. de Vries, Alexander J. M. Dingemans, Michel Verbruggen, Lisenka E.L.M. Vissers, Noraly Jonis, Han G. Brunner, Evan E. Eichler, Maria J. Nabais Sá, Angela van Remortele, Sam van de Ven
Publikováno v:
American Journal of Medical Genetics. Part A, 185, 1039-1046
American Journal of Medical Genetics. Part a
Dingemans, A J M, Stremmelaar, D E, Vissers, L E L M, Jansen, S, Nabais Sá, M J, van Remortele, A, Jonis, N, Truijen, K, van de Ven, S, Ewals, J, Verbruggen, M, Koolen, D A, Brunner, H G, Eichler, E E, Gecz, J & de Vries, B B A 2021, ' Human disease genes website series: An international, open and dynamic library for up-to-date clinical information ', American Journal of Medical Genetics, Part A, vol. 185, no. 4, pp. 1039-1046 . https://doi.org/10.1002/ajmg.a.62057
American Journal of Medical Genetics, Part A, 185(4), 1039-1046. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 185, 4, pp. 1039-1046
American Journal of Medical Genetics. Part a
Dingemans, A J M, Stremmelaar, D E, Vissers, L E L M, Jansen, S, Nabais Sá, M J, van Remortele, A, Jonis, N, Truijen, K, van de Ven, S, Ewals, J, Verbruggen, M, Koolen, D A, Brunner, H G, Eichler, E E, Gecz, J & de Vries, B B A 2021, ' Human disease genes website series: An international, open and dynamic library for up-to-date clinical information ', American Journal of Medical Genetics, Part A, vol. 185, no. 4, pp. 1039-1046 . https://doi.org/10.1002/ajmg.a.62057
American Journal of Medical Genetics, Part A, 185(4), 1039-1046. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 185, 4, pp. 1039-1046
Since the introduction of next‐generation sequencing, an increasing number of disorders have been discovered to have genetic etiology. To address diverse clinical questions and coordinate research activities that arise with the identification of th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d867954760a1205130c1588fca84b81
https://doi.org/10.1002/ajmg.a.62057
https://doi.org/10.1002/ajmg.a.62057
Autor:
Ingrid M.B.H. van de Laar, Eline A. Verberne, Kim M G Truijen, Marlon E F Wilsterman, Mieke M. van Haelst, Jung-Hyun Kim, Margje Sinnema, Erica H. Gerkes, Kathleen M Collins, Zahide Alaçam, Kristin Lindstrom, Alexander J. M. Dingemans, Hermine E. Veenstra-Knol, Mathilde Nizon, Lisenka E.L.M. Vissers, Anneke T. Vulto-van Silfhout, Astrid S Plomp, Laurence Faivre, Bert B.A. de Vries, Edyta Heropolitańska-Pliszka, Rani Sachdev, James Pauling, Eun-Young Erin Ahn, Jon Skranes, Caroline Racine
Publikováno v:
Eur J Hum Genet
European journal of human genetics. Nature Publishing Group
European Journal of Human Genetics. Nature Publishing Group
European Journal of Human Genetics, 30, 3, pp. 271-281
European Journal of Human Genetics, 30(3), 271-281. Nature Publishing Group
Dingemans, A J M, Truijen, K M G, Kim, J-H, Alaçam, Z, Faivre, L, Collins, K M, Gerkes, E H, van Haelst, M, van de Laar, I M B H, Lindstrom, K, Nizon, M, Pauling, J, Heropolitańska-Pliszka, E, Plomp, A S, Racine, C, Sachdev, R, Sinnema, M, Skranes, J, Veenstra-Knol, H E, Verberne, E A, Vulto-van Silfhout, A T, Wilsterman, M E F, Ahn, E-Y E, de Vries, B B A & Vissers, L E L M 2021, ' Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON ', European Journal of Human Genetics . https://doi.org/10.1038/s41431-021-00960-4
European Journal of Human Genetics
European Journal of Human Genetics, 30, 271-281
European journal of human genetics. Nature Publishing Group
European Journal of Human Genetics. Nature Publishing Group
European Journal of Human Genetics, 30, 3, pp. 271-281
European Journal of Human Genetics, 30(3), 271-281. Nature Publishing Group
Dingemans, A J M, Truijen, K M G, Kim, J-H, Alaçam, Z, Faivre, L, Collins, K M, Gerkes, E H, van Haelst, M, van de Laar, I M B H, Lindstrom, K, Nizon, M, Pauling, J, Heropolitańska-Pliszka, E, Plomp, A S, Racine, C, Sachdev, R, Sinnema, M, Skranes, J, Veenstra-Knol, H E, Verberne, E A, Vulto-van Silfhout, A T, Wilsterman, M E F, Ahn, E-Y E, de Vries, B B A & Vissers, L E L M 2021, ' Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON ', European Journal of Human Genetics . https://doi.org/10.1038/s41431-021-00960-4
European Journal of Human Genetics
European Journal of Human Genetics, 30, 271-281
Contains fulltext : 248367.pdf (Publisher’s version ) (Closed access) Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome, an intellectual disability syndrome first described in 2016, is caused by heterozygous loss-of-function variants in SON. Its encoded pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38271c6ccb9b4a927021519fae31a8db
https://pubmed.ncbi.nlm.nih.gov/34840333
https://pubmed.ncbi.nlm.nih.gov/34840333