Monia Hammer

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

Marie Coutelier, Monia Hammer, Giovanni Stévanin et al. · JAMA Neurology · 2018 · 120 citations · Full text

Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity

Monia Hammer, Ghada Eleuch-Fayache, Lucía Schottlaender et al. · The American Journal of Human Genetics · 2013 · 116 citations · Full text

Mendelian Disorder, Genetic Disorder, Degenerative Disease +4

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

Heidi L. Rehm, Joseph T. Alaimo, Swaroop Aradhya et al. · Genetics in Medicine · 2023 · 112 citations · Full text

Genome-wide Association Study, Genetic Analysis, Next-generation Sequencing +6

Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans

Yubin Wang, Joshua Hersheson, Dulce Lopez et al. · Cell Reports · 2016 · 98 citations · Full text

Knockout Mouse, Developmental Biology, Synaptic Signaling +9

Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3

Celeste Sassi, Michael A. Nalls, Perry G. Ridge et al. · Neurobiology of Aging · 2018 · 47 citations · Full text