Publications:

---

Rhodopsin-associated retinal dystrophy: Disease mechanisms and therapeutic strategies.

Frontiers In Neuroscience

Zhen, Fangyuan F; Zou, Tongdan T; Wang, Ting T; Zhou, Yongwei Y; Dong, Shuqian S; Zhang, Houbin H

Publication Date: 2023

Variant appearance in text: RHO: C110R

PubMed Link: 37077319

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.

Pnas Nexus

Peter, Virginie G VG; Kaminska, Karolina K; Santos, Cristina C; Quinodoz, Mathieu M; Cancellieri, Francesca F; Cisarova, Katarina K; Pescini Gobert, Rosanna R; Rodrigues, Raquel R; Custódio, Sónia S; Paris, Liliana P LP; Sousa, Ana Berta AB; Coutinho Santos, Luisa L; Rivolta, Carlo C

Publication Date: 2023-03

Variant appearance in text: RHO: 328T>C

PubMed Link: 36909829

Variant Present in the following documents:

• pgad043.pdf

View BVdb publication page

---

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

Frontiers In Cell And Developmental Biology

Panneman, Daan M DM; Hitti-Malin, Rebekkah J RJ; Holtes, Lara K LK; de Bruijn, Suzanne E SE; Reurink, Janine J; Boonen, Erica G M EGM; Khan, Muhammad Imran MI; Ali, Manir M; Andréasson, Sten S; De Baere, Elfride E; Banfi, Sandro S; Bauwens, Miriam M; Ben-Yosef, Tamar T; Bocquet, Béatrice B; De Bruyne, Marieke M; de la Cerda, Berta B; Coppieters, Frauke F; Farinelli, Pietro P; Guignard, Thomas T; Inglehearn, Chris F CF; Karali, Marianthi M; Kjellström, Ulrika U; Koenekoop, Robert R; de Koning, Bart B; Leroy, Bart P BP; McKibbin, Martin M; Meunier, Isabelle I; Nikopoulos, Konstantinos K; Nishiguchi, Koji M KM; Poulter, James A JA; Rivolta, Carlo C; Rodríguez de la Rúa, Enrique E; Saunders, Patrick P; Simonelli, Francesca F; Tatour, Yasmin Y; Testa, Francesco F; Thiadens, Alberta A H J AAHJ; Toomes, Carmel C; Tracewska, Anna M AM; Tran, Hoai Viet HV; Ushida, Hiroaki H; Vaclavik, Veronika V; Verhoeven, Virginie J M VJM; van de Vorst, Maartje M; Gilissen, Christian C; Hoischen, Alexander A; Cremers, Frans P M FPM; Roosing, Susanne S

Publication Date: 2023

Variant appearance in text: RHO: 328T>C; Cys110Arg

PubMed Link: 36819107

Variant Present in the following documents:

• Table4.xlsx, sheet 1

View BVdb publication page

---

CRISPR/Cas therapeutic strategies for autosomal dominant disorders.

The Journal Of Clinical Investigation

Caruso, Salvatore Marco SM; Quinn, Peter Mj PM; da Costa, Bruna Lopes BL; Tsang, Stephen H SH

Publication Date: 2022-05-02

Variant appearance in text: RHO: C110R

PubMed Link: 35499084

Variant Present in the following documents:

• jci-132-158287.pdf

View BVdb publication page

---

Updating the Genetic Landscape of Inherited Retinal Dystrophies.

Frontiers In Cell And Developmental Biology

García Bohórquez, Belén B; Aller, Elena E; Rodríguez Muñoz, Ana A; Jaijo, Teresa T; García García, Gema G; Millán, José M JM

Publication Date: 2021

Variant appearance in text: RHO: 328T>C; Cys110Arg

PubMed Link: 34327195

Variant Present in the following documents:

• Main text
• fcell-09-645600.pdf

View BVdb publication page

---

Panel-based genetic testing for inherited retinal disease screening 176 genes.

Molecular Genetics & Genomic Medicine

Sheck, Leo H N LHN; Esposti, Simona D SD; Mahroo, Omar A OA; Arno, Gavin G; Pontikos, Nikolas N; Wright, Genevieve G; Webster, Andrew R AR; Khan, Kamron N KN; Michaelides, Michel M

Publication Date: 2021-12

Variant appearance in text: RHO: 328T>C; Cys110Arg

PubMed Link: 33749171

Variant Present in the following documents:

• MGG3-9-e1663-s001.xlsx, sheet 1

View BVdb publication page

---

Panel-based genetic testing for inherited retinal disease screening 176 genes.

Molecular Genetics & Genomic Medicine

Sheck, Leo H N LHN; Esposti, Simona D SD; Mahroo, Omar A OA; Arno, Gavin G; Pontikos, Nikolas N; Wright, Genevieve G; Webster, Andrew R AR; Khan, Kamron N KN; Michaelides, Michel M

Publication Date: 2021-03-22

Variant appearance in text: RHO: 328T>C; Cys110Arg

PubMed Link: 33749171

Variant Present in the following documents:

• MGG3-9-e1663-s001.xlsx, sheet 1

View BVdb publication page

---

Rod function deficit in retained photoreceptors of patients with class B Rhodopsin mutations.

Scientific Reports

Cideciyan, Artur V AV; Jacobson, Samuel G SG; Roman, Alejandro J AJ; Sumaroka, Alexander A; Wu, Vivian V; Charng, Jason J; Lisi, Brianna B; Swider, Malgorzata M; Aguirre, Gustavo D GD; Beltran, William A WA

Publication Date: 2020-07-28

Variant appearance in text: RHO: Cys110Arg

PubMed Link: 32724127

Variant Present in the following documents:

• 41598_2020_Article_69456.pdf

View BVdb publication page

---

Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.

Scientific Reports

Jauregui, Ruben R; Chan, Lawrence L; Oh, Jin Kyun JK; Cho, Ahra A; Sparrow, Janet R JR; Tsang, Stephen H SH

Publication Date: 2020-02-25

Variant appearance in text: RHO: 328T>C; C110R

PubMed Link: 32098976

Variant Present in the following documents:

• 41598_2020_60137_MOESM1_ESM.pdf

View BVdb publication page

---

Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Lenassi, Eva E; Clayton-Smith, Jill J; Douzgou, Sofia S; Ramsden, Simon C SC; Ingram, Stuart S; Hall, Georgina G; Hardcastle, Claire L CL; Fletcher, Tracy A TA; Taylor, Rachel L RL; Ellingford, Jamie M JM; Newman, William D WD; Fenerty, Cecilia C; Sharma, Vinod V; Lloyd, I Chris IC; Biswas, Susmito S; Ashworth, Jane L JL; Black, Graeme C GC; Sergouniotis, Panagiotis I PI

Publication Date: 2020-04

Variant appearance in text: RHO: 328T>C; Cys110Arg

PubMed Link: 31848469

Variant Present in the following documents:

• 41436_2019_722_MOESM1_ESM.pdf

View BVdb publication page

---

Multimodal structural disease progression of retinitis pigmentosa according to mode of inheritance.

Scientific Reports

Jauregui, Ruben R; Takahashi, Vitor K L VKL; Park, Karen Sophia KS; Cui, Xuan X; Takiuti, Julia T JT; Lima de Carvalho, Jose Ronaldo JR; Tsang, Stephen H SH

Publication Date: 2019-07-24

Variant appearance in text: RHO: 328T>C; C110R

PubMed Link: 31341231

Variant Present in the following documents:

• 41598_2019_47251_MOESM1_ESM.pdf

View BVdb publication page

---

Characterizing variants of unknown significance in rhodopsin: A functional genomics approach.

Human Mutation

Wan, Aliete A; Place, Emily E; Pierce, Eric A EA; Comander, Jason J

Publication Date: 2019-08

Variant appearance in text: RHO: 328T>C; C110R

PubMed Link: 30977563

Variant Present in the following documents:

• HUMU-40-1127-s002.xlsx, sheet 1

View BVdb publication page

---

Effects of Pathogenic Variations in the Human Rhodopsin Gene (hRHO) on the Predicted Accessibility for a Lead Candidate Ribozyme.

Investigative Ophthalmology & Visual Science

Froebel, Beau R BR; Trujillo, Alexandria J AJ; Sullivan, Jack M JM

Publication Date: 2017-07-01

Variant appearance in text: RHO: Cys110Arg

PubMed Link: 28715844

Variant Present in the following documents:

• iovs-58-05-25_s02.pdf

View BVdb publication page

---

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: RHO: C110R

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

View BVdb publication page

---