Katharina Vill

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

One Year of Newborn Screening for SMA – Results of a German Pilot Project

Katharina Vill, Heike Kölbel, Oliver Schwartz et al. · Journal of Neuromuscular Diseases · 2019 · 176 citations · Full text

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

Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years

Katharina Vill, Oliver Schwartz, Astrid Blaschek et al. · Orphanet Journal of Rare Diseases · 2021 · 158 citations · Full text

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Ana Töpf, Katherine Johnson, Adam Bates et al. · Genetics in Medicine · 2020 · 105 citations · Full text