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Rachel Palmquist

Showing results (11-20 of 20) with videos related to

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Journal of Community Genetics|December 19, 2022
Evaluating visual imagery for participant understanding of research concepts in genomics researchErin Rothwell, Naomi O Riches, Erin Johnson, et al.
Research Square|April 17, 2026
Provider Perceptions of the Impact of Rapid Whole Genome Sequencing on Care and ManagementRachel Palmquist, Chelsea Solorzano, Brian J Shayota, et al.
Journal of Clinical and Translational Science|December 1, 2021
Addressing ethical and laboratory challenges for initiation of a rapid whole genome sequencing programSabrina Malone Jenkins, Rachel Palmquist, Ashley L Kapron, et al.
Pediatric Research|February 4, 2022
Evaluating use of changing technologies for rapid next-generation sequencing in pediatricsRachel Palmquist, Sabrina Malone Jenkins, Dawn Bentley, et al.
Cold Spring Harbor Molecular Case Studies|November 15, 2022
Rapid genome sequencing identifies a novel de novo <i>SNAP25</i> variant for neonatal congenital myasthenic syndromeHayley M Reynolds, Ting Wen, Andrew Farrell, et al.
Molecular Genetics & Genomic Medicine|February 4, 2022
Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic herniaThomas J Nicholas, Najla Al-Sweel, Andrew Farrell, et al.
American Journal of Medical Genetics. Part A|July 16, 2026
Heterozygous RNF13 Truncating Variants Are Associated With Developmental and Epileptic EncephalopathyDonald R Latner, Susan M Hiatt, Candice R Finnila, et al.
Journal of Personalized Medicine|December 29, 2022
The Development of an Infrastructure to Facilitate the Use of Whole Genome Sequencing for Population HealthNephi A Walton, Brent Hafen, Sara Graceffo, et al.
JAMA Neurology|October 31, 2022
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical PracticeDianalee McKnight, Ana Morales, Kathryn E Hatchell, et al.
The Journal of Clinical Investigation|November 14, 2023
Spliceosome malfunction causes neurodevelopmental disorders with overlapping featuresDong Li, Qin Wang, Allan Bayat, et al.
Pageof 2

Showing results (11-20 of 20) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 20 results.
Journal of Community Genetics|December 19, 2022
Evaluating visual imagery for participant understanding of research concepts in genomics researchErin Rothwell, Naomi O Riches, Erin Johnson, et al.
Research Square|April 17, 2026
Provider Perceptions of the Impact of Rapid Whole Genome Sequencing on Care and ManagementRachel Palmquist, Chelsea Solorzano, Brian J Shayota, et al.
Journal of Clinical and Translational Science|December 1, 2021
Addressing ethical and laboratory challenges for initiation of a rapid whole genome sequencing programSabrina Malone Jenkins, Rachel Palmquist, Ashley L Kapron, et al.
Pediatric Research|February 4, 2022
Evaluating use of changing technologies for rapid next-generation sequencing in pediatricsRachel Palmquist, Sabrina Malone Jenkins, Dawn Bentley, et al.
Cold Spring Harbor Molecular Case Studies|November 15, 2022
Rapid genome sequencing identifies a novel de novo <i>SNAP25</i> variant for neonatal congenital myasthenic syndromeHayley M Reynolds, Ting Wen, Andrew Farrell, et al.
Molecular Genetics & Genomic Medicine|February 4, 2022
Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic herniaThomas J Nicholas, Najla Al-Sweel, Andrew Farrell, et al.
American Journal of Medical Genetics. Part A|July 16, 2026
Heterozygous RNF13 Truncating Variants Are Associated With Developmental and Epileptic EncephalopathyDonald R Latner, Susan M Hiatt, Candice R Finnila, et al.
Journal of Personalized Medicine|December 29, 2022
The Development of an Infrastructure to Facilitate the Use of Whole Genome Sequencing for Population HealthNephi A Walton, Brent Hafen, Sara Graceffo, et al.
JAMA Neurology|October 31, 2022
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical PracticeDianalee McKnight, Ana Morales, Kathryn E Hatchell, et al.
The Journal of Clinical Investigation|November 14, 2023
Spliceosome malfunction causes neurodevelopmental disorders with overlapping featuresDong Li, Qin Wang, Allan Bayat, et al.
Pageof 2