Monia Hammer
Children’s Institute(US)Rady Children's Hospital-San Diego(US)
Publications by Year
Research Areas
Genetic Neurodegenerative Diseases, Neurological diseases and metabolism, Mitochondrial Function and Pathology, RNA regulation and disease, Genomics and Rare Diseases
Most-Cited Works
- → Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes(2018)123 cited
- → The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change(2023)121 cited
- → Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity(2013)119 cited
- → Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans(2016)98 cited
- → Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3(2018)48 cited
- → SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families(2017)36 cited
- → Clinical and genetic analyses of familial and sporadic frontotemporal dementia patients in Southern Italy(2017)35 cited
- → Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders(2012)27 cited
- → Shared Genetics of Multiple System Atrophy and Inflammatory Bowel Disease(2020)21 cited