P. J. Vliet

Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2

J. Goeman, S. Tapscott, B. Engelen, 2017, European Journal of Human Genetics.

SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain

M. Lamers, V. Kimonis, A. Ferlini, 2019, Journal of Medical Genetics.

Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome

S. Tapscott, C. Ruivenkamp, R. Lemmers, 2015, Human mutation.

Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2

S. Tapscott, B. Engelen, N. Voermans, 2015, European Journal of Human Genetics.

Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2

J. Goeman, S. Tapscott, B. Engelen, 2017, European Journal of Human Genetics.