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Helen V Firth

Showing results (21-30 of 116) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 5, 2020
Evaluating variants classified as pathogenic in ClinVar in the DDD StudyCaroline F Wright, Ruth Y Eberhardt, Panayiotis Constantinou, et al.
European Journal of Human Genetics : EJHG|April 30, 2015
Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing researchAnna Middleton, Katherine I Morley, Eugene Bragin, et al.
Journal of Medical Genetics|May 22, 2015
Potential research participants support the return of raw sequence dataAnna Middleton, Caroline F Wright, Katherine I Morley, et al.
Lancet (London, England)|December 23, 2014
No expectation to share incidental findings in genomic researchAnna Middleton, Katherine I Morley, Eugene Bragin, et al.
Journal of Neurosurgery. Pediatrics|June 26, 2012
Isolated hypoglossal schwannoma in a 9-year-old childThomas Santarius, Srikanth Dakoji, Fardad T Afshari, et al.
BMJ (Clinical Research Ed.)|November 26, 2013
Policy challenges of clinical genome sequencingCaroline F Wright, Anna Middleton, Hilary Burton, et al.
Wellcome Open Research|March 21, 2017
Returning genome sequences to research participants: Policy and practiceCaroline F Wright, Anna Middleton, Jeffrey C Barrett, et al.
Human Mutation|February 10, 2022
DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and researchJulia Foreman, Simon Brent, Daniel Perrett, et al.
Nucleic Acids Research|October 24, 2013
DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variationEugene Bragin, Eleni A Chatzimichali, Caroline F Wright, et al.
Molecular Genetics & Genomic Medicine|June 10, 2021
Novel compound heterozygous STN1 variants are associated with Coats Plus syndromeTanvi Acharya, Helen V Firth, Shilpa Dugar, et al.
Pageof 12

Showing results (21-30 of 116) with videos related to

Sort By:
Pageof 12
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 5, 2020
Evaluating variants classified as pathogenic in ClinVar in the DDD StudyCaroline F Wright, Ruth Y Eberhardt, Panayiotis Constantinou, et al.
European Journal of Human Genetics : EJHG|April 30, 2015
Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing researchAnna Middleton, Katherine I Morley, Eugene Bragin, et al.
Journal of Medical Genetics|May 22, 2015
Potential research participants support the return of raw sequence dataAnna Middleton, Caroline F Wright, Katherine I Morley, et al.
Lancet (London, England)|December 23, 2014
No expectation to share incidental findings in genomic researchAnna Middleton, Katherine I Morley, Eugene Bragin, et al.
Journal of Neurosurgery. Pediatrics|June 26, 2012
Isolated hypoglossal schwannoma in a 9-year-old childThomas Santarius, Srikanth Dakoji, Fardad T Afshari, et al.
BMJ (Clinical Research Ed.)|November 26, 2013
Policy challenges of clinical genome sequencingCaroline F Wright, Anna Middleton, Hilary Burton, et al.
Wellcome Open Research|March 21, 2017
Returning genome sequences to research participants: Policy and practiceCaroline F Wright, Anna Middleton, Jeffrey C Barrett, et al.
Human Mutation|February 10, 2022
DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and researchJulia Foreman, Simon Brent, Daniel Perrett, et al.
Nucleic Acids Research|October 24, 2013
DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variationEugene Bragin, Eleni A Chatzimichali, Caroline F Wright, et al.
Molecular Genetics & Genomic Medicine|June 10, 2021
Novel compound heterozygous STN1 variants are associated with Coats Plus syndromeTanvi Acharya, Helen V Firth, Shilpa Dugar, et al.
Pageof 12