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Christopher M Watson

Showing results (81-90 of 94) with videos related to

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Plos Computational Biology|June 20, 2020
A crowdsourced set of curated structural variants for the human genomeLesley M Chapman, Noah Spies, Patrick Pai, et al.
American Journal of Human Genetics|November 3, 2018
Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality DefectsSerge Bonnefoy, Christopher M Watson, Kristin D Kernohan, et al.
Medrxiv : the Preprint Server for Health Sciences|February 6, 2026
Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disordersAnkur Chaurasia, Anju Shukla, Shruti Pande, et al.
European Journal of Human Genetics : EJHG|June 26, 2026
Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disordersAnkur Chaurasia, Anju Shukla, Shruti Pande, et al.
Academic Pediatrics|October 31, 2025
Validity Evidence for a Transport Medical Control Assessment Tool Using Simulated Interfacility Transport CallsRyan J Good, Alan Schwartz, Richard Mink, et al.
Human Molecular Genetics|December 12, 2017
DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transportVerity L Hartill, Glenn van de Hoek, Mitali P Patel, et al.
The New England Journal of Medicine|May 21, 2015
Trial of short-course antimicrobial therapy for intraabdominal infectionRobert G Sawyer, Jeffrey A Claridge, Avery B Nathens, et al.
EMBO Molecular Medicine|April 4, 2023
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stabilityDirenis Erdinc, Alejandro Rodríguez-Luis, Mahmoud R Fassad, et al.
Medrxiv : the Preprint Server for Health Sciences|April 3, 2026
Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research LibraryJenny Lord, Alistair T Pagnamenta, Letizia Vestito, et al.
Journal of Medical Genetics|December 28, 2019
Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohortMahmoud R Fassad, Mitali P Patel, Amelia Shoemark, et al.
Pageof 10

Showing results (81-90 of 94) with videos related to

Sort By:
Pageof 10
Plos Computational Biology|June 20, 2020
A crowdsourced set of curated structural variants for the human genomeLesley M Chapman, Noah Spies, Patrick Pai, et al.
American Journal of Human Genetics|November 3, 2018
Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality DefectsSerge Bonnefoy, Christopher M Watson, Kristin D Kernohan, et al.
Medrxiv : the Preprint Server for Health Sciences|February 6, 2026
Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disordersAnkur Chaurasia, Anju Shukla, Shruti Pande, et al.
European Journal of Human Genetics : EJHG|June 26, 2026
Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disordersAnkur Chaurasia, Anju Shukla, Shruti Pande, et al.
Academic Pediatrics|October 31, 2025
Validity Evidence for a Transport Medical Control Assessment Tool Using Simulated Interfacility Transport CallsRyan J Good, Alan Schwartz, Richard Mink, et al.
Human Molecular Genetics|December 12, 2017
DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transportVerity L Hartill, Glenn van de Hoek, Mitali P Patel, et al.
The New England Journal of Medicine|May 21, 2015
Trial of short-course antimicrobial therapy for intraabdominal infectionRobert G Sawyer, Jeffrey A Claridge, Avery B Nathens, et al.
EMBO Molecular Medicine|April 4, 2023
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stabilityDirenis Erdinc, Alejandro Rodríguez-Luis, Mahmoud R Fassad, et al.
Medrxiv : the Preprint Server for Health Sciences|April 3, 2026
Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research LibraryJenny Lord, Alistair T Pagnamenta, Letizia Vestito, et al.
Journal of Medical Genetics|December 28, 2019
Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohortMahmoud R Fassad, Mitali P Patel, Amelia Shoemark, et al.
Pageof 10