Olaf A. Bodamer

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease

Jin‐Kuk Kim, Chunguang Hu, Christelle Moufawad El Achkar et al. · New England Journal of Medicine · 2019 · 805 citations · Full text

Life Sciences, Molecular Medicine, Neurology +17

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia

Karin Tuschl, Esther Meyer, Leonardo E. Valdivia et al. · Nature Communications · 2016 · 323 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Phenylketonuria Scientific Review Conference: State of the science and future research needs

Kathryn Camp, Melissa A. Parisi, Phyllis B. Acosta et al. · Molecular Genetics and Metabolism · 2014 · 269 citations

Medicine, Biochemistry, Molecular Medicine +8

Kabuki syndrome: international consensus diagnostic criteria

Margaret P Adam, Siddharth Banka, Hans T. Björnsson et al. · Journal of Medical Genetics · 2018 · 248 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Rare variants in <i>SOS2</i> and <i>LZTR1</i> are associated with Noonan syndrome

Guilherme Lopes Yamamoto, Meire Aguena, Monika Goś et al. · Journal of Medical Genetics · 2015 · 245 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17