Jonas Denecke

Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II

Klaus Schwarz, Achille Iolascon, Fátima Verı́ssimo et al. · Nature Genetics · 2009 · 284 citations

Life Sciences, Genetics, Molecular Genetics +9

Lessons learned from additional research analyses of unsolved clinical exome cases

Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Tamar Harel et al. · Genome Medicine · 2017 · 233 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization

Andrew R. Cullinane, Anna Straatman-Iwanowska, Andreas Zaucker et al. · Nature Genetics · 2010 · 180 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany

Astrid Pechmann, Thorsten Langer, David Schorling et al. · Journal of Neuromuscular Diseases · 2018 · 149 citations · Full text

Medicine, Neurology, Neuromuscular Disorders +14

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

Davor Lessel, Christina Gehbauer, Nuria C. Bramswig et al. · Brain · 2018 · 134 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17