Publications:

---

Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients.

Translational Vision Science & Technology

Tuupanen, Sari S; Gall, Kimberly K; Sistonen, Johanna J; Saarinen, Inka I; Kämpjärvi, Kati K; Wells, Kirsty K; Merkkiniemi, Katja K; von Nandelstadh, Pernilla P; Sarantaus, Laura L; Känsäkoski, Johanna J; Mårtenson, Emma E; Västinsalo, Hanna H; Schleit, Jennifer J; Sankila, Eeva-Marja EM; Kere, Annakarin A; Junnila, Heidi H; Siivonen, Pauli P; Andreevskaya, Margarita M; Kytölä, Ville V; Muona, Mikko M; Salmenperä, Pertteli P; Myllykangas, Samuel S; Koskenvuo, Juha J; Alastalo, Tero-Pekka TP

Publication Date: 2022-01-03

Variant appearance in text: ABCA4: 302+68C>T

PubMed Link: 34985506

Variant Present in the following documents:

• tvst-11-1-6_s001.pdf

View BVdb publication page

---

Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients.

Translational Vision Science & Technology

Tuupanen, Sari S; Gall, Kimberly K; Sistonen, Johanna J; Saarinen, Inka I; Kämpjärvi, Kati K; Wells, Kirsty K; Merkkiniemi, Katja K; von Nandelstadh, Pernilla P; Sarantaus, Laura L; Känsäkoski, Johanna J; Mårtenson, Emma E; Västinsalo, Hanna H; Schleit, Jennifer J; Sankila, Eeva-Marja EM; Kere, Annakarin A; Junnila, Heidi H; Siivonen, Pauli P; Andreevskaya, Margarita M; Kytölä, Ville V; Muona, Mikko M; Salmenperä, Pertteli P; Myllykangas, Samuel S; Koskenvuo, Juha J; Alastalo, Tero-Pekka TP

Publication Date: 2022-01-03

Variant appearance in text: ABCA4: 302+68C>T

PubMed Link: 34985506

Variant Present in the following documents:

• tvst-11-1-6_s001.pdf

View BVdb publication page

---

Findings from a Genotyping Study of Over 1000 People with Inherited Retinal Disorders in Ireland.

Genes

Whelan, Laura L; Dockery, Adrian A; Wynne, Niamh N; Zhu, Julia J; Stephenson, Kirk K; Silvestri, Giuliana G; Turner, Jacqueline J; O'Byrne, James J JJ; Carrigan, Matthew M; Humphries, Peter P; Keegan, David D; Kenna, Paul F PF; Farrar, G Jane GJ

Publication Date: 2020-01-16

Variant appearance in text: ABCA4: 302+68C>T

PubMed Link: 31963381

Variant Present in the following documents:

• Main text
• genes-11-00105.pdf

View BVdb publication page

---

Deep Scleral Exposure: A Degenerative Outcome of End-Stage Stargardt Disease.

American Journal Of Ophthalmology

Lee, Winston W; Zernant, Jana J; Nagasaki, Takayuki T; Tsang, Stephen H SH; Allikmets, Rando R

Publication Date: 2018-11

Variant appearance in text: ABCA4: 302+68C>T

PubMed Link: 30055151

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease.

American Journal Of Human Genetics

Albert, Silvia S; Garanto, Alejandro A; Sangermano, Riccardo R; Khan, Mubeen M; Bax, Nathalie M NM; Hoyng, Carel B CB; Zernant, Jana J; Lee, Winston W; Allikmets, Rando R; Collin, Rob W J RWJ; Cremers, Frans P M FPM

Publication Date: 2018-04-05

Variant appearance in text: STGD1: 302+68C>T

PubMed Link: 29526278

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genes and genetics in eye diseases: a genomic medicine approach for investigating hereditary and inflammatory ocular disorders.

International Journal Of Ophthalmology

Singh, Mahavir M; Tyagi, Suresh C SC

Publication Date: 2018

Variant appearance in text: ABCA4: 302+68C>T

PubMed Link: 29376001

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes.

Human Genetics

Lee, Winston W; Xie, Yajing Y; Zernant, Jana J; Yuan, Bo B; Bearelly, Srilaxmi S; Tsang, Stephen H SH; Lupski, James R JR; Allikmets, Rando R

Publication Date: 2016-01

Variant appearance in text: STGD1: 302+68C>T

PubMed Link: 26527198

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Analysis of the ABCA4 gene by next-generation sequencing.

Investigative Ophthalmology & Visual Science

Zernant, Jana J; Schubert, Carl C; Im, Kate M KM; Burke, Tomas T; Brown, Carolyn M CM; Fishman, Gerald A GA; Tsang, Stephen H SH; Gouras, Peter P; Dean, Michael M; Allikmets, Rando R

Publication Date: 2011-10-31

Variant appearance in text: ABCA4: 302+68C>T

PubMed Link: 21911583

Variant Present in the following documents:

• Main text

View BVdb publication page

---