Tim Ripperger

Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms

Bianca Tesi, Josef Davidsson, Elisa Rahikkala et al. · Blood · 2017 · 202 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants

Ana Rio‐Machín, Tom Vulliamy, Nele Hug et al. · Nature Communications · 2020 · 116 citations · Full text

Life Sciences, Genetics, Hematology +17

Mutational landscape in children with myelodysplastic syndromes is distinct from adults: specific somatic drivers and novel germline variants

Victoria Pastor, Shinsuke Hirabayashi, Axel Karow et al. · Leukemia · 2016 · 86 citations

Life Sciences, Genetics, Molecular Genetics +17

A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency

Katharina Wimmer, Andreas Beilken, R. Nustede et al. · Familial Cancer · 2016 · 76 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy

Claire C. Homan, Sarah L. King‐Smith, David Lawrence et al. · Haematologica · 2021 · 55 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14