Rachel Palmquist

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice

Dianalee McKnight, Ana Morales, Kathryn E. Hatchell et al. · JAMA Neurology · 2022 · 94 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Dong Li, Qin Wang, Allan Bayat et al. · Journal of Clinical Investigation · 2023 · 44 citations · Full text

Life Sciences, Genetics, Neuroscience +17

The Development of an Infrastructure to Facilitate the Use of Whole Genome Sequencing for Population Health

Nephi Walton, Brent Hafen, Sara Graceffo et al. · Journal of Personalized Medicine · 2022 · 16 citations · Full text

Medicine, Biomedical Informatics, Health Informatics +13

Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics

Rachel Palmquist, Sabrina Malone Jenkins, Dawn Bentley et al. · Pediatric Research · 2022 · 15 citations · Full text

Medicine, Child Health, Pediatrics +11

Rapid genome sequencing identifies a novel de novo<i>SNAP25</i>variant for neonatal congenital myasthenic syndrome

Hayley M. Reynolds, Ting Wen, Andrew Farrell et al. · Molecular Case Studies · 2022 · 14 citations · Full text

Medicine, Genetics, Neurology +17