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Academic Journal

Long-Read Whole-Genome Sequencing as a Tool for Variant Detection in Inherited Retinal Dystrophies.

Authors : Rodilla, Cristina^1,2 (AUTHOR); Núñez-Moreno, Gonzalo^1,2,3 (AUTHOR); Benitez, Yolanda^1,3 (AUTHOR)

Source: International Journal of Molecular Sciences. Apr2025, Vol. 26 Issue 8, p3825. 16p.

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Academic Journal

State of the Art on Inherited Retinal Dystrophies: Management and Molecular Genetics.

Authors : Nebbioso, Marcella¹ (AUTHOR) ; Artico, Marco^1,2 (AUTHOR); Gharbiya, Magda^1,3 (AUTHOR)

Source: Journal of Clinical Medicine. May2025, Vol. 14 Issue 10, p3526. 26p.

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Academic Journal

Female Simplex Carriers of X-Linked Retinal Dystrophies: A Case Series.

Authors : Delaney, Adrienne¹ (AUTHOR) ; Branham, Kari E.² (AUTHOR); Jayasundera, K. Thiran² (AUTHOR)

Source: Case Reports in Ophthalmology. Apr2025, Vol. 16 Issue 1, p395-405. 11p. 2 Illustrations, 1 Chart.

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Academic Journal

Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population.

Authors : Heutinck, Pam A.T.¹ (AUTHOR); Iglesias, Adriana I.² (AUTHOR); Farhud, Dariush D.^3,4 (AUTHOR)

Source: Scientific Reports. 7/3/2025, Vol. 15 Issue 1, p1-11. 11p.

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Academic Journal

Genotype-phenotype correlations for 17 Chinese families with inherited retinal dystrophies due to homozygous variants.

Authors : Fan, Xue¹ (AUTHOR); Li, Zhen² (AUTHOR); Sha, Lingzhi¹ (AUTHOR)

Source: Scientific Reports. 1/24/2025, Vol. 15 Issue 1, p1-16. 16p.

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Academic Journal

Near-Infrared Autofluorescence: Early Detection of Retinal Pigment Epithelial Alterations in Inherited Retinal Dystrophies.

Authors : Kellner, Simone^1,2 (AUTHOR) ; Weinitz, Silke^1,2 (AUTHOR); Farmand, Ghazaleh¹ (AUTHOR)

Source: Journal of Clinical Medicine. Nov2024, Vol. 13 Issue 22, p6886. 16p.

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Academic Journal

Identification of Pathogenic Copy Number Variants in Mexican Patients With Inherited Retinal Dystrophies Applying an Exome Sequencing Data‐Based Read‐Depth Approach.

Authors : Fabian‐Morales, Gerardo E.¹ (AUTHOR); Ordoñez‐Labastida, Vianey^1,2,3 (AUTHOR); Garcia‐Martínez, Froylan¹ (AUTHOR)

Source: Molecular Genetics & Genomic Medicine. Oct2024, Vol. 12 Issue 10, p1-10. 10p.

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Academic Journal

High prevalence of exon-13 variants in USH2A-related retinal dystrophies in Taiwanese population.

Authors : Lin, Yu-Wei¹ (AUTHOR); Huang, Yu-Shu^2,3 (AUTHOR); Lin, Chien-Yu³ (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 6/15/2024, Vol. 19 Issue 1, p1-14. 14p.

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Academic Journal

Clinical and analytical validation of an 82-gene comprehensive genome-profiling panel for identifying and interpreting variants responsible for inherited retinal dystrophies.

Authors : Chan, Jacqueline¹ (AUTHOR); Holdstock, Jolyon¹ (AUTHOR); Shovelton, John¹ (AUTHOR)

Source: PLoS ONE. 6/13/2024, Vol. 19 Issue 6, p1-19. 19p.

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Academic Journal

Novel Therapies for Inherited Retinal Dystrophies.

Authors : Kay, Christine Nichols¹ (AUTHOR)

Source: Journal of Clinical Medicine. Dec2024, Vol. 13 Issue 23, p7358. 3p.

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فلترة النتائج

Long-Read Whole-Genome Sequencing as a Tool for Variant Detection in Inherited Retinal Dystrophies.

State of the Art on Inherited Retinal Dystrophies: Management and Molecular Genetics.

Female Simplex Carriers of X-Linked Retinal Dystrophies: A Case Series.

Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population.

Genotype-phenotype correlations for 17 Chinese families with inherited retinal dystrophies due to homozygous variants.

Near-Infrared Autofluorescence: Early Detection of Retinal Pigment Epithelial Alterations in Inherited Retinal Dystrophies.

Identification of Pathogenic Copy Number Variants in Mexican Patients With Inherited Retinal Dystrophies Applying an Exome Sequencing Data‐Based Read‐Depth Approach.

High prevalence of exon-13 variants in USH2A-related retinal dystrophies in Taiwanese population.

Clinical and analytical validation of an 82-gene comprehensive genome-profiling panel for identifying and interpreting variants responsible for inherited retinal dystrophies.

Novel Therapies for Inherited Retinal Dystrophies.

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