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Eric A Pierce

Showing results (121-130 of 132) with videos related to

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American Journal of Human Genetics|September 3, 2013
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathyXiaowu Gai, Daniele Ghezzi, Mark A Johnson, et al.
Translational Vision Science & Technology|August 27, 2025
Addressing Challenges in Developing Treatments for Inherited Retinal Diseases: Recommendations From the Third Monaciano SymposiumDebra A Thompson, K Thiran Jayasundera, Oleg Alekseev, et al.
American Journal of Human Genetics|August 27, 2024
Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expressionSamantha Malka, Pooja Biswas, Anne-Marie Berry, et al.
Nature Genetics|January 25, 2011
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrumErica E Davis, Qi Zhang, Qin Liu, et al.
Nature Genetics|September 14, 2010
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathyEdgar A Otto, Toby W Hurd, Rannar Airik, et al.
American Journal of Human Genetics|April 2, 2024
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic diseaseGabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.
Medrxiv : the Preprint Server for Health Sciences|October 24, 2023
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic diseaseGabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.
Medrxiv : the Preprint Server for Health Sciences|February 8, 2024
Unique Capabilities of Genome Sequencing for Rare Disease DiagnosisMonica H Wojcik, Gabrielle Lemire, Maha S Zaki, et al.
Medrxiv : the Preprint Server for Health Sciences|July 3, 2026
Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencingAlba Sanchis-Juan, Yulia Mostovoy, Sarah L Stenton, et al.
The New England Journal of Medicine|June 5, 2024
Genome Sequencing for Diagnosing Rare DiseasesMonica H Wojcik, Gabrielle Lemire, Eva Berger, et al.
Pageof 14

Showing results (121-130 of 132) with videos related to

Sort By:
Pageof 14
American Journal of Human Genetics|September 3, 2013
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathyXiaowu Gai, Daniele Ghezzi, Mark A Johnson, et al.
Translational Vision Science & Technology|August 27, 2025
Addressing Challenges in Developing Treatments for Inherited Retinal Diseases: Recommendations From the Third Monaciano SymposiumDebra A Thompson, K Thiran Jayasundera, Oleg Alekseev, et al.
American Journal of Human Genetics|August 27, 2024
Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expressionSamantha Malka, Pooja Biswas, Anne-Marie Berry, et al.
Nature Genetics|January 25, 2011
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrumErica E Davis, Qi Zhang, Qin Liu, et al.
Nature Genetics|September 14, 2010
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathyEdgar A Otto, Toby W Hurd, Rannar Airik, et al.
American Journal of Human Genetics|April 2, 2024
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic diseaseGabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.
Medrxiv : the Preprint Server for Health Sciences|October 24, 2023
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic diseaseGabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.
Medrxiv : the Preprint Server for Health Sciences|February 8, 2024
Unique Capabilities of Genome Sequencing for Rare Disease DiagnosisMonica H Wojcik, Gabrielle Lemire, Maha S Zaki, et al.
Medrxiv : the Preprint Server for Health Sciences|July 3, 2026
Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencingAlba Sanchis-Juan, Yulia Mostovoy, Sarah L Stenton, et al.
The New England Journal of Medicine|June 5, 2024
Genome Sequencing for Diagnosing Rare DiseasesMonica H Wojcik, Gabrielle Lemire, Eva Berger, et al.
Pageof 14