Riccardo Berutti

Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers

Carlo Sidore, Fabio Busonero, Andrea Maschio et al. · Nature Genetics · 2015 · 413 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Genetic Variants Regulating Immune Cell Levels in Health and Disease

Valeria Orrù, Maristella Steri, Gabriella Sole et al. · Cell · 2013 · 367 citations · Full text

Life Sciences, Genetics, Immunology +14

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

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Vicente A. Yépez, Mirjana Gušić, Robert Kopajtich et al. · Genome Medicine · 2022 · 207 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 175 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12