Patrick J Vliet

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.

Prenatal exposure to apoE deficiency and postnatal hypercholesterolemia are associated with altered cell-specific lysine methyltransferase and histone methylation patterns in the vasculature.

J. Goeman, M. DeRuiter, A. G. Gittenberger-de Groot, 2010, The American journal of pathology.

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.

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.

High resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect.

H. Buermans, B. Engelen, M. Upadhyaya, 2021, Human molecular genetics.

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

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