Eva Rudd

Defective cytotoxic lymphocyte degranulation in syntaxin-11–deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients

Yenan T. Bryceson, Eva Rudd, Chengyun Zheng et al. · Blood · 2007 · 303 citations · Full text

TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons

Xavier Caubit, Paolo Gubellini, Joris Andrieux et al. · Nature Genetics · 2016 · 141 citations · Full text

Neurodevelopmental Disorders, Molecular Neuroscience, Neurological Disorder +14

Clinical presentation of Griscelli syndrome type 2 and spectrum of <i>RAB27A</i> mutations

Marie Meeths, Yenan T. Bryceson, Eva Rudd et al. · Pediatric Blood & Cancer · 2009 · 94 citations

Characterization of <i>PRF1</i>, <i>STX11</i> and <i>UNC13D</i> genotype‐phenotype correlations in familial hemophagocytic lymphohistiocytosis

AnnaCarin Horne, Kim Ramme, Eva Rudd et al. · British Journal of Haematology · 2008 · 91 citations

Genetics, Genetic Epidemiology, Immunology +17

Spectrum, and clinical and functional implications of <i>UNC13D</i> mutations in familial haemophagocytic lymphohistiocytosis

Eva Rudd, Yenan T. Bryceson, Chengyun Zheng et al. · Journal of Medical Genetics · 2007 · 62 citations