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 · 278 citations

Developmental Biology, Genetic Disorder, Genetics +6

Lessons learned from additional research analyses of unsolved clinical exome cases

Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Tamar Harel et al. · Genome Medicine · 2017 · 230 citations · Full text

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 · 178 citations · Full text

Urology, Autoimmune Disease, Cholestasis Syndrome Phenotype +13

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 · 144 citations · Full text

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 · 132 citations · Full text

Bcl11b Mutations, Brain Development, Lymphocyte Development +21