Dominic Lenz

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Vicente A. Yépez, Mirjana Gušić, Robert Kopajtich et al. · Genome Medicine · 2022 · 184 citations · Full text

Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts

Christian Staufner, Tobias B. Haack, Marlies Köpke et al. · Journal of Inherited Metabolic Disease · 2015 · 109 citations

Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency

Stefano Vavassori, Janet Chou, Laura Faletti et al. · Journal of Allergy and Clinical Immunology · 2021 · 84 citations · Full text

Inflammation, Cytokine, Multisystem Inflammation +7

Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

Christian Staufner, Bianca Peters, Matias Wagner et al. · Genetics in Medicine · 2019 · 68 citations · Full text

Medicine, Genotype–phenotype Correlations, Genetic Epidemiology +10

Detailed comparison of retroviral vectors and promoter configurations for stable and high transgene expression in human induced pluripotent stem cells

Dirk Hoffmann, Juliane W. Schott, Franziska K. Geis et al. · Gene Therapy · 2017 · 63 citations

High Transgene Expression, Induced Pluripotent Stem Cell, Developmental Biology +11