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Sebastian Lunke

Showing results (101-110 of 117) with videos related to

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Nature Medicine|June 24, 2026
Automated reanalysis of genomic data for rare disease diagnostics at scaleMatthew J Welland, K D Ahlquist, Paul De Fazio, et al.
Nature Communications|May 12, 2021
Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotypeMarija Kojic, Tomasz Gawda, Monika Gaik, et al.
Genetics in Medicine Open|December 13, 2024
A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders FlagshipRachel Austin, Jaye S Brown, Sarah Casauria, et al.
American Journal of Human Genetics|July 30, 2021
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolutionZornitza Stark, Rebecca E Foulger, Eleanor Williams, et al.
Nature Medicine|June 8, 2023
Integrated multi-omics for rapid rare disease diagnosis on a national scaleSebastian Lunke, Sophie E Bouffler, Chirag V Patel, et al.
American Journal of Human Genetics|April 19, 2023
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomaliesKelly Smallwood, Kristin E N Watt, Satoru Ide, et al.
American Journal of Human Genetics|August 10, 2021
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disordersJacob R Stolz, Kendall M Foote, Hermine E Veenstra-Knol, et al.
American Journal of Human Genetics|November 5, 2021
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disordersJacob R Stolz, Kendall M Foote, Hermine E Veenstra-Knol, et al.
Journal of Personalized Medicine|December 29, 2022
The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and ImplementationAlison D Archibald, Belinda J McClaren, Jade Caruana, et al.
Human Mutation|October 25, 2019
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicityHanyin Cheng, Simona Capponi, Emma Wakeling, et al.
Pageof 12

Showing results (101-110 of 117) with videos related to

Sort By:
Pageof 12
Nature Medicine|June 24, 2026
Automated reanalysis of genomic data for rare disease diagnostics at scaleMatthew J Welland, K D Ahlquist, Paul De Fazio, et al.
Nature Communications|May 12, 2021
Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotypeMarija Kojic, Tomasz Gawda, Monika Gaik, et al.
Genetics in Medicine Open|December 13, 2024
A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders FlagshipRachel Austin, Jaye S Brown, Sarah Casauria, et al.
American Journal of Human Genetics|July 30, 2021
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolutionZornitza Stark, Rebecca E Foulger, Eleanor Williams, et al.
Nature Medicine|June 8, 2023
Integrated multi-omics for rapid rare disease diagnosis on a national scaleSebastian Lunke, Sophie E Bouffler, Chirag V Patel, et al.
American Journal of Human Genetics|April 19, 2023
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomaliesKelly Smallwood, Kristin E N Watt, Satoru Ide, et al.
American Journal of Human Genetics|August 10, 2021
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disordersJacob R Stolz, Kendall M Foote, Hermine E Veenstra-Knol, et al.
American Journal of Human Genetics|November 5, 2021
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disordersJacob R Stolz, Kendall M Foote, Hermine E Veenstra-Knol, et al.
Journal of Personalized Medicine|December 29, 2022
The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and ImplementationAlison D Archibald, Belinda J McClaren, Jade Caruana, et al.
Human Mutation|October 25, 2019
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicityHanyin Cheng, Simona Capponi, Emma Wakeling, et al.
Pageof 12