Sander Pajusalu

Death after High-Dose rAAV9 Gene Therapy in a Patient with Duchenne’s Muscular Dystrophy

Angela Lek, Brenda Wong, Allison M. Keeler et al. · New England Journal of Medicine · 2023 · 303 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Monogenic variants in dystonia: an exome-wide sequencing study

Michael Zech, Robert Jech, Sylvia Boesch et al. · The Lancet Neurology · 2020 · 214 citations · Full text

Life Sciences, Genetics, Neurology +14

Genome Sequencing for Diagnosing Rare Diseases

Monica H. Wojcik, Gabrielle Lemire, Eva Berger et al. · New England Journal of Medicine · 2024 · 184 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases

Francisco M. De La Vega, Shimul Chowdhury, Barry Moore et al. · Genome Medicine · 2021 · 152 citations · Full text

Life Sciences, Genetics, Pediatrics +17

Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

David B. Beck, Ana Petracovici, Chongsheng He et al. · The American Journal of Human Genetics · 2020 · 112 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12