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Sarah Bowdin

Showing results (21-30 of 34) with videos related to

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European Journal of Human Genetics : EJHG|November 22, 2017
Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarrayRobin Z Hayeems, Jasmin Bhawra, Kate Tsiplova, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 22, 2015
Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defectLisa C A D'Alessandro, Saeed Al Turki, Ashok Kumar Manickaraj, et al.
Annals of Neurology|September 17, 2014
Absent CNKSR2 causes seizures and intellectual, attention, and language deficitsAndrea K Vaags, Sarah Bowdin, Mary-Lou Smith, et al.
European Journal of Human Genetics : EJHG|February 18, 2018
Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testingGregory Costain, Rebekah Jobling, Susan Walker, et al.
Circulation|July 1, 2018
Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada SyndromeS Mohsen Hosseini, Raymond Kim, Sharmila Udupa, et al.
NPJ Genomic Medicine|July 2, 2025
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencingHuayun Hou, Kyoko E Yuki, Gregory Costain, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 11, 2020
The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart diseaseMiriam S Reuter, Rajiv R Chaturvedi, Eriskay Liston, et al.
Journal of Medical Genetics|October 23, 2015
MKS1 regulates ciliary INPP5E levels in Joubert syndromeGisela G Slaats, Christine R Isabella, Hester Y Kroes, et al.
European Journal of Human Genetics : EJHG|July 27, 2023
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delaysMythily Ganapathi, Leticia S Matsuoka, Michael March, et al.
Nature Medicine|July 2, 2024
Benefits for children with suspected cancer from routine whole-genome sequencingAngus Hodder, Sarah M Leiter, Jonathan Kennedy, et al.
Pageof 4

Showing results (21-30 of 34) with videos related to

Sort By:
Pageof 4
European Journal of Human Genetics : EJHG|November 22, 2017
Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarrayRobin Z Hayeems, Jasmin Bhawra, Kate Tsiplova, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 22, 2015
Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defectLisa C A D'Alessandro, Saeed Al Turki, Ashok Kumar Manickaraj, et al.
Annals of Neurology|September 17, 2014
Absent CNKSR2 causes seizures and intellectual, attention, and language deficitsAndrea K Vaags, Sarah Bowdin, Mary-Lou Smith, et al.
European Journal of Human Genetics : EJHG|February 18, 2018
Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testingGregory Costain, Rebekah Jobling, Susan Walker, et al.
Circulation|July 1, 2018
Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada SyndromeS Mohsen Hosseini, Raymond Kim, Sharmila Udupa, et al.
NPJ Genomic Medicine|July 2, 2025
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencingHuayun Hou, Kyoko E Yuki, Gregory Costain, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 11, 2020
The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart diseaseMiriam S Reuter, Rajiv R Chaturvedi, Eriskay Liston, et al.
Journal of Medical Genetics|October 23, 2015
MKS1 regulates ciliary INPP5E levels in Joubert syndromeGisela G Slaats, Christine R Isabella, Hester Y Kroes, et al.
European Journal of Human Genetics : EJHG|July 27, 2023
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delaysMythily Ganapathi, Leticia S Matsuoka, Michael March, et al.
Nature Medicine|July 2, 2024
Benefits for children with suspected cancer from routine whole-genome sequencingAngus Hodder, Sarah M Leiter, Jonathan Kennedy, et al.
Pageof 4