RPGR ORF15 sequencing improves diagnostic yield in patients with inherited retinal dystrophies.

被引：0

作者：

Tuupanen, Sari ^{[1
]}

Sistonen, Johanna ^{[1
]}

Kampjarvi, Kati ^{[1
]}

Siivonen, Pauli ^{[1
]}

Mehine, Miika ^{[1
]}

Kansakoski, Johanna ^{[1
]}

Wells, Kirsty ^{[1
]}

Schleit, Jennifer ^{[2
]}

Valori, Miko ^{[1
]}

Salmenpera, Pertteli ^{[1
]}

Sankila, Eeva-Marja ^{[3
]}

Salminen, Eveliina ^{[1
]}

Alastalo, Tero-Pekka ^{[2
]}

Koskenvuo, Juha ^{[1
]}

Myllykangas, Samuel ^{[1
]}

机构：

[1] Blueprint Genet, Helsinki, Finland

[2] Blueprint Genet, San Francisco, CA USA

[3] Univ Helsinki, Eye Hosp, Helsinki, Finland

来源：

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 2019年 / 60卷 / 09期

关键词：

D O I：

暂无

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

2939

引用

页数：4

共 50 条

[1] Prevalence and characteristics of RPGR ORF15 variants in patients with inherited retinal dystrophies
Sistonen, J.
Tuupanen, S.
Kampjarvi, K.
Siivonen, P.
Mehine, M.
Kansakoski, J.
Wells, K.
Schleit, J.
Valori, M.
Salmenpera, P.
Sankila, E.
Salminen, E.
Alastalo, T.
Koskenvuo, J.
Myllykangas, S.
[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1242 - 1242
[2] High Throughput Clinical Testing of RPGR ORF15 Mutations in Patients with Inherited Retinal Dystrophy
Chiang, John
Tina, M. Lamey
Duan, Jie
Wang, Nicholas
McLaren, Terri L.
Thompson, Jennifer A.
Ruddle, Jonathan
De Roach, John N.
[J]. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2018, 59 (09)
[3] RPGR ORF15: From Clinical Sequencing to Treatment
Giacalone, Joseph
Wiley, Luke A.
Streb, Luan A.
Daggett, Heather T.
Burnight, Erin R.
Mullins, Robert F.
Tucker, Budd
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[J]. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2015, 56 (07)
[4] Improved Diagnosis of Inherited Retinal Dystrophies by High-Fidelity PCR of ORF15 followed by Next-Generation Sequencing
Li, Jianli
Tang, Jia
Feng, Yanming
Xu, Mingchu
Chen, Rui
Zou, Xuan
Sui, Ruifang
Chang, Emmanuel Y.
Lewis, Richard A.
Zhang, Victor W.
Wang, Jing
Wong, Lee-Jun C.
[J]. JOURNAL OF MOLECULAR DIAGNOSTICS, 2016, 18 (06): : 817 - 824
[5] Retinal histopathology of an XLRP carrier with a mutation in the RPGR exon ORF15
Aguirre, GD
Yashar, BM
John, SK
Smith, JE
Breuer, DK
Hiriyanna, S
Swaroop, A
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[J]. EXPERIMENTAL EYE RESEARCH, 2002, 75 (04) : 431 - 443
[6] RPGR ORF15 genotype and clinical variability of retinal degeneration in an Australian population
Ruddle, J. B.
Ebenezer, N. D.
Kearns, L. S.
Mulhall, L. E.
Mackey, D. A.
Hardcastle, A. J.
[J]. BRITISH JOURNAL OF OPHTHALMOLOGY, 2009, 93 (09) : 1151 - 1154
[7] Development of High-Throughput Clinical Testing of RPGR ORF15 Using a Large Inherited Retinal Dystrophy Cohort
Chiang, John P. W.
Lamey, Tina M.
Wang, Nicholas K.
Duan, Jie
Zhou, Wei
McLaren, Terri L.
Thompson, Jennifer A.
Ruddle, Jonathan
De Roach, John N.
[J]. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2018, 59 (11) : 4434 - 4440
[8] The importance of Sanger sequencing of exon ORF15 of RPGR at the time of next-generation sequencing
Zeitz, Christina
Bujakowska, Kinga Maria
Neidhardt, John
El Shamieh, Said
Sahel, Jose Alain
Audo, Isabelle S.
[J]. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2015, 56 (07)
[9] Severe retinal degeneration in women with a c.2543del mutation in ORF15 of the RPGR gene
Kousal, Bohdan
Skalicka, Pavlina
Valesova, Lucie
Fletcher, Tracy
Hart-Holden, Niki
O'Grady, Anna
Chakarova, Christina F.
Michaelides, Michel
Hardcastle, Alison J.
Liskova, Petra
[J]. MOLECULAR VISION, 2014, 20 : 1307 - 1317
[10] Genetic diagnostic of inherited retinal dystrophies through clinical exome sequencing
Barberan-Martinez, Pilar
Garcia-Bohorquez, Belen
Navarro-Moreno, Cinta
Jaijo, Teresa
Aller, Elena
Garcia-Garcia, Gema
Millan, Jose M.
[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 119 - 119

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