Michael Zech

Monogenic variants in dystonia: an exome-wide sequencing study

Michael Zech, Robert Jech, Sylvia Boesch et al. · The Lancet Neurology · 2020 · 206 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +3

Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia

Michael Zech, Sylvia Boesch, Esther M. Maier et al. · The American Journal of Human Genetics · 2016 · 160 citations · Full text

Epigenetic Change, Genetics, Degenerative Disease +4

<i>De novo</i> variants in neurodevelopmental disorders—experiences from a tertiary care center

Theresa Brunet, Robert Jech, Melanie Brügger et al. · Clinical Genetics · 2021 · 111 citations · Full text

Neurogenomics, Brain Development, Genetics +28

Clinical exome sequencing in early‐onset generalized dystonia and large‐scale resequencing follow‐up

Michael Zech, Sylvia Boesch, Angela Jochim et al. · Movement Disorders · 2016 · 110 citations

Loss‐of‐Function Variants in <scp>HOPS</scp> Complex Genes <scp><i>VPS16</i></scp> and <scp><i>VPS41</i></scp> Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

Dora Steel, Michael Zech, Chen Zhao et al. · Annals of Neurology · 2020 · 106 citations · Full text