Straussberg, Rachel

Top Publications

Top Publications Authored or Co-Authored by "Straussberg, Rachel"

• Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

  American Journal of Medical Genetics, Part A, Volume 167, No. 2, Year 2015, Citations 449
• A Homozygous Mutation in Human PRICKLE1 Causes an Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome

  American Journal of Human Genetics, Volume 83, No. 5, Year 2008, Citations 208
• Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

  Nature Communications, Volume 10, No. 1, Article 4920, Year 2019, Citations 98
• BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

  European Journal of Human Genetics, Volume 31, No. 9, Year 2023, Citations 90
• Clinical, biomarker, and molecular delineations and genotype-Phenotype correlations of ataxia with oculomotor apraxia type 1

  JAMA Neurology, Volume 75, No. 4, Year 2018, Citations 43