Publications:

---

Phenotyping of ABCA4 Retinopathy by Machine Learning Analysis of Full-Field Electroretinography.

Translational Vision Science & Technology

Glinton, Sophie L SL; Calcagni, Antonio A; Lilaonitkul, Watjana W; Pontikos, Nikolas N; Vermeirsch, Sandra S; Zhang, Gongyu G; Arno, Gavin G; Wagner, Siegfried K SK; Michaelides, Michel M; Keane, Pearse A PA; Webster, Andrew R AR; Mahroo, Omar A OA; Robson, Anthony G AG

Publication Date: 2022-09-01

Variant appearance in text: ABCA4: 656G>C; Arg219Thr

PubMed Link: 36178783

Variant Present in the following documents:

• tvst-11-9-34_s002.pdf

View BVdb publication page

---

A novel statistical method for interpreting the pathogenicity of rare variants.

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

Wang, Jun J; Liu, Hehe H; Bertrand, Renae Elaine RE; Sarrion-Perdigones, Alejandro A; Gonzalez, Yezabel Y; Venken, Koen J T KJT; Chen, Rui R

Publication Date: 2021-01

Variant appearance in text: ABCA4: R219T

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

View BVdb publication page

---

Prevalence of mutations in inherited retinal diseases: A comparison between the United States and India.

Molecular Genetics & Genomic Medicine

Yohe, Sophia S; Sivasankar, Malaichamy M; Ghosh, Anuprita A; Ghosh, Arkasubhra A; Holle, Jennifer J; Murugan, Sakthivel S; Gupta, Ravi R; Schimmenti, Lisa A LA; Vedam, Ramprasad R; Thyagarajan, Bharat B

Publication Date: 2020-02

Variant appearance in text: ABCA4: 656G>C; Arg219Thr

PubMed Link: 31816670

Variant Present in the following documents:

• MGG3-8-e1081-s001.xlsx, sheet 1

View BVdb publication page

---

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: ABCA4: R219T; rs61748537

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

---

Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.

The British Journal Of Ophthalmology

Fujinami, Kaoru K; Strauss, Rupert W RW; Chiang, John Pei-Wen JP; Audo, Isabelle S IS; Bernstein, Paul S PS; Birch, David G DG; Bomotti, Samantha M SM; Cideciyan, Artur V AV; Ervin, Ann-Margret AM; Marino, Meghan J MJ; Sahel, José-Alain JA; Mohand-Said, Saddek S; Sunness, Janet S JS; Traboulsi, Elias I EI; West, Sheila S; Wojciechowski, Robert R; Zrenner, Eberhart E; Michaelides, Michel M; Scholl, Hendrik P N HPN; , ; ,

Publication Date: 2019-03

Variant appearance in text: ABCR: 656G>C

PubMed Link: 29925512

Variant Present in the following documents:

• bjophthalmol-2018-312064supp005.pdf
• bjophthalmol-2018-312064supp004.pdf

View BVdb publication page

---

Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.

Scientific Reports

Birtel, Johannes J; Eisenberger, Tobias T; Gliem, Martin M; Müller, Philipp L PL; Herrmann, Philipp P; Betz, Christian C; Zahnleiter, Diana D; Neuhaus, Christine C; Lenzner, Steffen S; Holz, Frank G FG; Mangold, Elisabeth E; Bolz, Hanno J HJ; Charbel Issa, Peter P

Publication Date: 2018-03-19

Variant appearance in text: ABCA4: 656G>C

PubMed Link: 29555955

Variant Present in the following documents:

• 41598_2018_22096_MOESM1_ESM.pdf

View BVdb publication page

---

Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.

Investigative Ophthalmology & Visual Science

Schulz, Heidi L HL; Grassmann, Felix F; Kellner, Ulrich U; Spital, Georg G; Rüther, Klaus K; Jägle, Herbert H; Hufendiek, Karsten K; Rating, Philipp P; Huchzermeyer, Cord C; Baier, Maria J MJ; Weber, Bernhard H F BH; Stöhr, Heidi H

Publication Date: 2017-01-01

Variant appearance in text: STGD: 656G>C

PubMed Link: 28118664

Variant Present in the following documents:

• iovs-57-15-69_s05.pdf
• iovs-57-15-69_s04.pdf

View BVdb publication page

---

Psychophysical measurement of rod and cone thresholds in stargardt disease with full-field stimuli.

Retina (Philadelphia, Pa.)

Collison, Frederick T FT; Fishman, Gerald A GA; McAnany, J Jason JJ; Zernant, Jana J; Allikmets, Rando R

Publication Date: 2014-09

Variant appearance in text: ABCA4: Arg219Thr

PubMed Link: 24695063

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The value of retinal imaging with infrared scanning laser ophthalmoscopy in patients with stargardt disease.

Retina (Philadelphia, Pa.)

Chun, Robert R; Fishman, Gerald A GA; Collison, Frederick T FT; Stone, Edwin M EM; Zernant, Jana J; Allikmets, Rando R

Publication Date: 2014-07

Variant appearance in text: ABCA4: R219T

PubMed Link: 24317291

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Association of dark-adapted visual function with retinal structural changes in patients with Stargardt disease.

Retina (Philadelphia, Pa.)

Salvatore, Serena S; Fishman, Gerald A GA; McAnany, J Jason JJ; Genead, Mohamed A MA

Publication Date: 2014-05

Variant appearance in text: STGD1: Arg219Thr

PubMed Link: 24280667

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Outcome of ABCA4 microarray screening in routine clinical practice.

Molecular Vision

Ernest, Paul J G PJ; Boon, Camiel J F CJ; Klevering, B Jeroen BJ; Hoefsloot, Lies H LH; Hoyng, Carel B CB

Publication Date: 2009-12-20

Variant appearance in text: ABCA4: 656G>C

PubMed Link: 20029649

Variant Present in the following documents:

• Main text
• mv-v15-2841.pdf

View BVdb publication page

---