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A clustering of heterozygous missense variants in the cruci..:
Lot Snijders Blok
;
Jolijn Verseput
;
Dmitrijs Rots
...
http://www.sciencedirect.com/science/article/pii/S2666247722000744. , 2023
Link:
https://doi.org/10.1016/j.xhgg.2022.100157
RT Journal T1
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:c93dab48c10f4d9a93b8d87c61542fd8&Exemplar=1&LAN=DE A1 Lot Snijders Blok A1 Jolijn Verseput A1 Dmitrijs Rots A1 Hanka Venselaar A1 A. Micheil Innes A1 Connie Stumpel A1 Katrin Õunap A1 Karit Reinson A1 Eleanor G. Seaby A1 Shane McKee A1 Barbara Burton A1 Katherine Kim A1 Johanna M. van Hagen A1 Quinten Waisfisz A1 Pascal Joset A1 Katharina Steindl A1 Anita Rauch A1 Dong Li A1 Elaine H. Zackai A1 Sarah E. Sheppard A1 Beth Keena A1 Hakon Hakonarson A1 Andreas Roos A1 Nicolai Kohlschmidt A1 Anna Cereda A1 Maria Iascone A1 Erika Rebessi A1 Kristin D. Kernohan A1 Philippe M. Campeau A1 Francisca Millan A1 Jesse A. Taylor A1 Hanns Lochmüller A1 Martin R. Higgs A1 Amalia Goula A1 Birgitta Bernhard A1 Danita J. Velasco A1 Andrew A. Schmanski A1 Zornitza Stark A1 Lyndon Gallacher A1 Lynn Pais A1 Paul C. Marcogliese A1 Shinya Yamamoto A1 Nicholas Raun A1 Taryn E. Jakub A1 Jamie M. Kramer A1 Joery den Hoed A1 Simon E. Fisher A1 Han G. Brunner A1 Tjitske Kleefstra PB Elsevier YR 2023 K1 WDR5 K1 COMPASS K1 neurodevelopmental disorders K1 intellectual disability K1 Mendelian disorders K1 multiple congenital abnormalities K1 Genetics K1 QH426-470 JF http://www.sciencedirect.com/science/article/pii/S2666247722000744 LK http://dx.doi.org/https://doi.org/10.1016/j.xhgg.2022.100157 DO https://doi.org/10.1016/j.xhgg.2022.100157 SF ELIB - SuUB Bremen
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