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Seth I Berger

Showing results (41-50 of 61) with videos related to

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Nature Communications|March 30, 2024
Secondary bone marrow graft loss after third-party virus-specific T cell infusion: Case report of a rare complicationMichael D Keller, Stefan A Schattgen, Shanmuganathan Chandrakasan, et al.
Medrxiv : the Preprint Server for Health Sciences|February 24, 2025
Long-read sequencing resolves the clinically relevant <i>CYP21A2</i> locus, supporting a new clinical test for Congenital Adrenal HyperplasiaJean Monlong, Xiao Chen, Hayk Barseghyan, et al.
Medrxiv : the Preprint Server for Health Sciences|September 4, 2024
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detectionShloka Negi, Sarah L Stenton, Seth I Berger, et al.
Medrxiv : the Preprint Server for Health Sciences|July 15, 2024
Pathogenic variants in <i>TMEM184B</i> cause a neurodevelopmental syndrome via alteration of metabolic signalingKimberly A Chapman, Farid Ullah, Zachary A Yahiku, et al.
Journal of Medical Genetics|June 9, 2017
Loss of function in <i>ROBO1</i> is associated with tetralogy of Fallot and septal defectsPaul Kruszka, Pranoot Tanpaiboon, Katherine Neas, et al.
American Journal of Human Genetics|January 25, 2025
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detectionShloka Negi, Sarah L Stenton, Seth I Berger, et al.
Medrxiv : the Preprint Server for Health Sciences|January 7, 2025
Genome sequencing reveals the impact of non-canonical exon inclusions in rare genetic diseaseGeorgia Pitsava, Megan Hawley, Light Auriga, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 10, 2025
Genome sequencing reveals the impact of pseudoexons in rare genetic diseaseGeorgia Pitsava, Megan Hawley, Light Auriga, et al.
Nature Communications|September 11, 2024
Multiscale mapping of transcriptomic signatures for cardiotoxic drugsJens Hansen, Yuguang Xiong, Mustafa M Siddiq, et al.
Arxiv|January 30, 2023
Beyond the exome: what's next in diagnostic testing for Mendelian conditionsMonica H Wojcik, Chloe M Reuter, Shruti Marwaha, et al.
Pageof 7

Showing results (41-50 of 61) with videos related to

Sort By:
Pageof 7
Nature Communications|March 30, 2024
Secondary bone marrow graft loss after third-party virus-specific T cell infusion: Case report of a rare complicationMichael D Keller, Stefan A Schattgen, Shanmuganathan Chandrakasan, et al.
Medrxiv : the Preprint Server for Health Sciences|February 24, 2025
Long-read sequencing resolves the clinically relevant <i>CYP21A2</i> locus, supporting a new clinical test for Congenital Adrenal HyperplasiaJean Monlong, Xiao Chen, Hayk Barseghyan, et al.
Medrxiv : the Preprint Server for Health Sciences|September 4, 2024
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detectionShloka Negi, Sarah L Stenton, Seth I Berger, et al.
Medrxiv : the Preprint Server for Health Sciences|July 15, 2024
Pathogenic variants in <i>TMEM184B</i> cause a neurodevelopmental syndrome via alteration of metabolic signalingKimberly A Chapman, Farid Ullah, Zachary A Yahiku, et al.
Journal of Medical Genetics|June 9, 2017
Loss of function in <i>ROBO1</i> is associated with tetralogy of Fallot and septal defectsPaul Kruszka, Pranoot Tanpaiboon, Katherine Neas, et al.
American Journal of Human Genetics|January 25, 2025
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detectionShloka Negi, Sarah L Stenton, Seth I Berger, et al.
Medrxiv : the Preprint Server for Health Sciences|January 7, 2025
Genome sequencing reveals the impact of non-canonical exon inclusions in rare genetic diseaseGeorgia Pitsava, Megan Hawley, Light Auriga, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 10, 2025
Genome sequencing reveals the impact of pseudoexons in rare genetic diseaseGeorgia Pitsava, Megan Hawley, Light Auriga, et al.
Nature Communications|September 11, 2024
Multiscale mapping of transcriptomic signatures for cardiotoxic drugsJens Hansen, Yuguang Xiong, Mustafa M Siddiq, et al.
Arxiv|January 30, 2023
Beyond the exome: what's next in diagnostic testing for Mendelian conditionsMonica H Wojcik, Chloe M Reuter, Shruti Marwaha, et al.
Pageof 7