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European Journal of Human Genetics : EJHG
|
June 27, 2026
Australian parents' perspectives on extended genomic screening: what information to return and when?
Fiona Lynch, Christopher Gyngell, Stephanie Best, et al.
European Journal of Human Genetics : EJHG
|
February 24, 2026
Parental experiences of receiving genomic newborn screening results: findings from the BabyScreen+ study
Erin Tutty, Anaita Kanga-Parabia, Nathasha Kugenthiran, et al.
NPJ Genomic Medicine
|
February 14, 2026
Supporting decisions about genomic newborn screening at scale in the digital age: the BabyScreen+ study
Lilian Downie, Jade Caruana, Nathasha Kugenthiran, et al.
International Journal of Neonatal Screening
|
January 22, 2024
Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation
Fiona Lynch, Stephanie Best, Clara Gaff, et al.
Human Genomics
|
May 9, 2024
Australian public perspectives on genomic newborn screening: which conditions should be included?
Fiona Lynch, Stephanie Best, Clara Gaff, et al.
European Journal of Human Genetics : EJHG
|
June 26, 2026
How parents decide whether to have genomic newborn screening: experiences from BabyScreen
Anaita Kanga-Parabia, Erin Tutty, Nathasha Kugenthiran, et al.
European Journal of Human Genetics : EJHG
|
August 24, 2017
A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data
Zornitza Stark, Harriet Dashnow, Sebastian Lunke, et al.
Human Mutation
|
February 10, 2015
AmpliVar: mutation detection in high-throughput sequence from amplicon-based libraries
Arthur L Hsu, Olga Kondrashova, Sebastian Lunke, et al.
American Journal of Medical Genetics. Part A
|
May 11, 2026
Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi-Omic Genomics
Teresa Zhao, Andrew P Fennell, Tanavi Sharma, et al.
NPJ Genomic Medicine
|
January 29, 2021
Learning from scaling up ultra-rapid genomic testing for critically ill children to a national level
Stephanie Best, Helen Brown, Sebastian Lunke, et al.
Page
of 12
Search research articles
Search
Showing results (31-40 of 117) with videos related to
Sort By:
Page
of 12
European Journal of Human Genetics : EJHG
|
June 27, 2026
Australian parents' perspectives on extended genomic screening: what information to return and when?
Fiona Lynch, Christopher Gyngell, Stephanie Best, et al.
European Journal of Human Genetics : EJHG
|
February 24, 2026
Parental experiences of receiving genomic newborn screening results: findings from the BabyScreen+ study
Erin Tutty, Anaita Kanga-Parabia, Nathasha Kugenthiran, et al.
NPJ Genomic Medicine
|
February 14, 2026
Supporting decisions about genomic newborn screening at scale in the digital age: the BabyScreen+ study
Lilian Downie, Jade Caruana, Nathasha Kugenthiran, et al.
International Journal of Neonatal Screening
|
January 22, 2024
Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation
Fiona Lynch, Stephanie Best, Clara Gaff, et al.
Human Genomics
|
May 9, 2024
Australian public perspectives on genomic newborn screening: which conditions should be included?
Fiona Lynch, Stephanie Best, Clara Gaff, et al.
European Journal of Human Genetics : EJHG
|
June 26, 2026
How parents decide whether to have genomic newborn screening: experiences from BabyScreen
Anaita Kanga-Parabia, Erin Tutty, Nathasha Kugenthiran, et al.
European Journal of Human Genetics : EJHG
|
August 24, 2017
A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data
Zornitza Stark, Harriet Dashnow, Sebastian Lunke, et al.
Human Mutation
|
February 10, 2015
AmpliVar: mutation detection in high-throughput sequence from amplicon-based libraries
Arthur L Hsu, Olga Kondrashova, Sebastian Lunke, et al.
American Journal of Medical Genetics. Part A
|
May 11, 2026
Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi-Omic Genomics
Teresa Zhao, Andrew P Fennell, Tanavi Sharma, et al.
NPJ Genomic Medicine
|
January 29, 2021
Learning from scaling up ultra-rapid genomic testing for critically ill children to a national level
Stephanie Best, Helen Brown, Sebastian Lunke, et al.
Page
of 12