Massively parallel base editing to map variant effects in human hematopoiesis

Jorge D. Martin-Rufino, Nicole Castano, Michael Pang, +22

Cell

Deciphering cell states and genealogies of human haematopoiesis

Chen Weng, Fulong Yu, Dian Yang, +23

Nature

Drug discovery for Diamond-Blackfan anemia using reprogrammed hematopoietic progenitors

Sergei Doulatov, Linda T. Vo, Elizabeth R. Macari, +20

Science Translational Medicine

Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells

Darius Ebrahimi‐Fakhari, Lara Wahlster, Fabian Bartz, +7

Human Molecular Genetics

Npc1 LevelsSignal TransductionNpc2 GenesNatural SciencesImmunology +12

Presenilin-1 adopts pathogenic conformation in normal aging and in sporadic Alzheimer’s disease

Lara Wahlster, Muriel Arimon, Navine Nasser‐Ghodsi, +4

Acta Neuropathologica

Neurodegenerative DiseasesMolecular NeuroscienceAlzheimer's DiseaseNormal AgingDegenerative Pathology +8

A CLK3-HMGA2 Alternative Splicing Axis Impacts Human Hematopoietic Stem Cell Molecular Identity throughout Development

Marcella Cesana, Michael H. Guo, Davide Cacchiarelli, +18

Cell stem cell

Lineage PlasticityDevelopmental BiologyMedicineStem Cell MobilizationStem Cell Research +4

A genetic disorder reveals a hematopoietic stem cell regulatory network co-opted in leukemia

Richard A. Voit, Liming Tao, Fulong Yu, +11

Nature Immunology

Familial thrombocytopenia due to a complex structural variant resulting in a <i>WAC-ANKRD26</i> fusion transcript

Lara Wahlster, Jeffrey M. Verboon, Leif S. Ludwig, +15

The Journal of Experimental Medicine

GeneticsGenetic EpidemiologyPathologyFamilial ThrombocytopeniaComplex Structural Variant +18

Familial Mediterranean fever in Germany: clinical presentation and amyloidosis risk

Darius Ebrahimi‐Fakhari, Ute Hegenbart, P Lohse, +5

Scandinavian Journal of Rheumatology

Impaired Mitochondrial Dynamics And Mitophagy In Neuronal Models Of Tuberous Sclerosis Complex

Darius Ebrahimi‐Fakhari, Afshin Saffari, Lara Wahlster, +11

Cell Reports