Christian Beetz

Germline Mutations in <i>SUFU</i> Cause Gorlin Syndrome–Associated Childhood Medulloblastoma and Redefine the Risk Associated With <i>PTCH1</i> Mutations

Miriam J. Smith, Christian Beetz, Simon G. Williams et al. · Journal of Clinical Oncology · 2014 · 294 citations

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31

Christian Beetz, Rebecca Schüle, Tine Deconinck et al. · Brain · 2008 · 180 citations · Full text

Defects in ER–endosome contacts impact lysosome function in hereditary spastic paraplegia

Rachel Allison, James R. Edgar, Guy Pearson et al. · The Journal of Cell Biology · 2017 · 166 citations · Full text

High frequency of partial <i>SPAST</i> deletions in autosomal dominant hereditary spastic paraplegia

Christian Beetz, Anders O.H. Nygren, Jörg Schickel et al. · Neurology · 2006 · 138 citations

Germline <i><scp>SMARCE1</scp></i> mutations predispose to both spinal and cranial clear cell meningiomas

Miriam J. Smith, Andrew J. Wallace, Chris Bennett et al. · The Journal of Pathology · 2014 · 132 citations