Jennifer Friedman
Children’s Institute(US)University of San Diego(US)University of California San Diego(US)Rady Children's Hospital-San Diego(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Neurological disorders and treatments, Genetic Neurodegenerative Diseases, Glycogen Storage Diseases and Myoclonus
Most-Cited Works
- → Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization(2018)447 cited
- → Whole-Genome Sequencing for Optimized Patient Management(2011)300 cited
- → Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation(2019)293 cited
- → The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant(2015)185 cited
- → An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm(2020)183 cited
- → Novel mutation in the TOR1A (DYT1) gene in atypical, early onset dystonia and polymorphisms in dystonia and early onset parkinsonism(2001)166 cited