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Eva Lenassi

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

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Genes|April 29, 2020
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome DataValentina Cipriani, Nikolas Pontikos, Gavin Arno, et al.
European Journal of Human Genetics : EJHG|February 5, 2015
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variantsEva Lenassi, Ajoy Vincent, Zheng Li, et al.
European Journal of Human Genetics : EJHG|December 15, 2019
Diagnostic yield of panel-based genetic testing in syndromic inherited retinal diseaseOmamah A Jiman, Rachel L Taylor, Eva Lenassi, et al.
American Journal of Human Genetics|May 6, 2014
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophyPanagiotis I Sergouniotis, Christina Chakarova, Cian Murphy, et al.
American Journal of Human Genetics|December 6, 2011
Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retinaPanagiotis I Sergouniotis, Alice E Davidson, Donna S Mackay, et al.
Ophthalmology|November 2, 2020
Clinical and Genetic Findings in CTNNA1-Associated Macular Pattern DystrophyAlexander Tanner, Hwei Wuen Chan, Jose S Pulido, et al.
Journal of Medical Genetics|January 20, 2023
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disordersEva Lenassi, Ana Carvalho, Anja Thormann, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 23, 2020
Correction: Clinical utility of genetic testing in 201 preschool children with inherited eye disordersEva Lenassi, Jill Clayton-Smith, Sofia Douzgou, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 19, 2019
Clinical utility of genetic testing in 201 preschool children with inherited eye disordersEva Lenassi, Jill Clayton-Smith, Sofia Douzgou, et al.
Human Molecular Genetics|September 9, 2022
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophiesMalena Daich Varela, James Bellingham, Fabiana Motta, et al.
Pageof 3

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

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 30 results.
Genes|April 29, 2020
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome DataValentina Cipriani, Nikolas Pontikos, Gavin Arno, et al.
European Journal of Human Genetics : EJHG|February 5, 2015
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variantsEva Lenassi, Ajoy Vincent, Zheng Li, et al.
European Journal of Human Genetics : EJHG|December 15, 2019
Diagnostic yield of panel-based genetic testing in syndromic inherited retinal diseaseOmamah A Jiman, Rachel L Taylor, Eva Lenassi, et al.
American Journal of Human Genetics|May 6, 2014
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophyPanagiotis I Sergouniotis, Christina Chakarova, Cian Murphy, et al.
American Journal of Human Genetics|December 6, 2011
Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retinaPanagiotis I Sergouniotis, Alice E Davidson, Donna S Mackay, et al.
Ophthalmology|November 2, 2020
Clinical and Genetic Findings in CTNNA1-Associated Macular Pattern DystrophyAlexander Tanner, Hwei Wuen Chan, Jose S Pulido, et al.
Journal of Medical Genetics|January 20, 2023
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disordersEva Lenassi, Ana Carvalho, Anja Thormann, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 23, 2020
Correction: Clinical utility of genetic testing in 201 preschool children with inherited eye disordersEva Lenassi, Jill Clayton-Smith, Sofia Douzgou, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 19, 2019
Clinical utility of genetic testing in 201 preschool children with inherited eye disordersEva Lenassi, Jill Clayton-Smith, Sofia Douzgou, et al.
Human Molecular Genetics|September 9, 2022
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophiesMalena Daich Varela, James Bellingham, Fabiana Motta, et al.
Pageof 3