Publications:

---

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: ABCA4: 5044_5058del

PubMed Link: 36909829

Variant Present in the following documents:

• pgad043.pdf

View BVdb publication page

---

Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels.

Bmc Medical Genomics

Cannon, S S; Williams, M M; Gunning, A C AC; Wright, C F CF

Publication Date: 2023-02-28

Variant appearance in text: ABCA4: 5044_5058del

PubMed Link: 36855133

Variant Present in the following documents:

• 12920_2023_1454_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

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: 5044_5058del

PubMed Link: 36178783

Variant Present in the following documents:

• tvst-11-9-34_s002.pdf

View BVdb publication page

---

Case report: Disease phenotype associated with simultaneous biallelic mutations in ABCA4 and USH2A due to uniparental disomy of chromosome 1.

Frontiers In Genetics

Villafuerte-De la Cruz, R R; Chacon-Camacho, O F OF; Rodriguez-Martinez, A C AC; Xilotl-De Jesus, N N; Arce-Gonzalez, R R; Rodriguez-De la Torre, C C; Valdez-Garcia, J E JE; Rojas-Martinez, A A; Zenteno, J C JC

Publication Date: 2022

Variant appearance in text: ABCA4: 5044_5058del

PubMed Link: 36051698

Variant Present in the following documents:

• Main text
• fgene-13-949437.pdf

View BVdb publication page

---

Comparisons Among Optical Coherence Tomography and Fundus Autofluorescence Modalities as Measurements of Atrophy in ABCA4-Associated Disease.

Translational Vision Science & Technology

Parmann, Rait R; Tsang, Stephen H SH; Zernant, Jana J; Allikmets, Rando R; Greenstein, Vivienne C VC; Sparrow, Janet R JR

Publication Date: 2022-01-03

Variant appearance in text: ABCA4: 5044_5058delGTTGCCATCTGCGTG

PubMed Link: 35089312

Variant Present in the following documents:

• Main text
• tvst-11-1-36.pdf

View BVdb publication page

---

Comparisons Among Optical Coherence Tomography and Fundus Autofluorescence Modalities as Measurements of Atrophy in ABCA4-Associated Disease.

Translational Vision Science & Technology

Parmann, Rait R; Tsang, Stephen H SH; Zernant, Jana J; Allikmets, Rando R; Greenstein, Vivienne C VC; Sparrow, Janet R JR

Publication Date: 2022-01-03

Variant appearance in text: ABCA4: 5044_5058delGTTGCCATCTGCGTG

PubMed Link: 35089312

Variant Present in the following documents:

• Main text
• tvst-11-1-36.pdf

View BVdb publication page

---

Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients.

Frontiers In Genetics

Mena, Marcela D MD; Moresco, Angélica A AA; Vidal, Sofía H SH; Aguilar-Cortes, Diana D; Obregon, María G MG; Fandiño, Adriana C AC; Sendoya, Juan M JM; Llera, Andrea S AS; Podhajcer, Osvaldo L OL

Publication Date: 2021

Variant appearance in text: ABCA4: 5044_5058del

PubMed Link: 33841504

Variant Present in the following documents:

• Data_Sheet_2.xlsx, sheet 2
• Data_Sheet_2.xlsx, sheet 4

View BVdb publication page

---

Retinal Pigment Epithelium Atrophy in Recessive Stargardt Disease as Measured by Short-Wavelength and Near-Infrared Autofluorescence.

Translational Vision Science & Technology

Jauregui, Ruben R; Nuzbrokh, Yan Y; Su, Pei-Yin PY; Zernant, Jana J; Allikmets, Rando R; Tsang, Stephen H SH; Sparrow, Janet R JR

Publication Date: 2021-01

Variant appearance in text: ABCA4: 5044_5058del

PubMed Link: 33505770

Variant Present in the following documents:

• tvst-10-1-3_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: 5044_5058del

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

View BVdb publication page

---

Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.

Acta Ophthalmologica

Diñeiro, Marta M; Capín, Raquel R; Cifuentes, Guadalupe Á GÁ; Fernández-Vega, Beatriz B; Villota, Eva E; Otero, Andrea A; Santiago, Adrián A; Pruneda, Patricia C PC; Castillo, David D; Viejo-Díaz, Mónica M; Hernando, Inés I; Durán, Noelia S NS; Álvarez, Rebeca R; Lago, Claudia G CG; Ordóñez, Gonzalo R GR; Fernández-Vega, Álvaro Á; Cabanillas, Rubén R; Cadiñanos, Juan J

Publication Date: 2020-12

Variant appearance in text: ABCA4: 5044_5058delGTTGCCATCTGCGTG

PubMed Link: 32483926

Variant Present in the following documents:

• Main text
• AOS-98-e1034-s006.xlsx, sheet 1

View BVdb publication page

---

Variants in the ABCA4 gene in a Brazilian population with Stargardt disease.

Molecular Vision

Salles, Mariana Vallim MV; Motta, Fabiana Louise FL; Martin, Renan R; Filippelli-Silva, Rafael R; Dias da Silva, Elton E; Varela, Patricia P; Costa, Kárita Antunes KA; Chiang, John PeiWen JP; Pesquero, João Bosco JB; Sallum, Juliana-Maria Ferraz JF

Publication Date: 2018

Variant appearance in text: ABCA4: 5044_5058delGTTGCCATCTGCGTG

PubMed Link: 30093795

Variant Present in the following documents:

• Main text
• mv-v24-546.pdf

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: 5041_5055delGTGGTTGCCATCTGC; Val1681_Cys1685del

PubMed Link: 29925512

Variant Present in the following documents:

• bjophthalmol-2018-312064supp005.pdf

View BVdb publication page

---

Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy.

Genes

Porto, Fernanda B O FBO; Jones, Evan M EM; Branch, Justin J; Soens, Zachry T ZT; Maia, Igor Mendes IM; Sena, Isadora F G IFG; Sampaio, Shirley A M SAM; Simões, Renata T RT; Chen, Rui R

Publication Date: 2017-11-29

Variant appearance in text: ABCA4: 5044_5058del

PubMed Link: 29186038

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies.

Investigative Ophthalmology & Visual Science

Bertelsen, Mette M; Zernant, Jana J; Larsen, Michael M; Duno, Morten M; Allikmets, Rando R; Rosenberg, Thomas T

Publication Date: 2014-04-29

Variant appearance in text: ABCA4: 5041_5055del; V1681_C1685del

PubMed Link: 24713488

Variant Present in the following documents:

• Main text

View BVdb publication page

---

ABCA4 gene screening by next-generation sequencing in a British cohort.

Investigative Ophthalmology & Visual Science

Fujinami, Kaoru K; Zernant, Jana J; Chana, Ravinder K RK; Wright, Genevieve A GA; Tsunoda, Kazushige K; Ozawa, Yoko Y; Tsubota, Kazuo K; Webster, Andrew R AR; Moore, Anthony T AT; Allikmets, Rando R; Michaelides, Michel M

Publication Date: 2013-10-11

Variant appearance in text: ABCA4: 5041_5055del; V1681_C1685del

PubMed Link: 23982839

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.

Ophthalmology

Riveiro-Alvarez, Rosa R; Lopez-Martinez, Miguel-Angel MA; Zernant, Jana J; Aguirre-Lamban, Jana J; Cantalapiedra, Diego D; Avila-Fernandez, Almudena A; Gimenez, Ascension A; Lopez-Molina, Maria-Isabel MI; Garcia-Sandoval, Blanca B; Blanco-Kelly, Fiona F; Corton, Marta M; Tatu, Sorina S; Fernandez-San Jose, Patricia P; Trujillo-Tiebas, Maria-Jose MJ; Ramos, Carmen C; Allikmets, Rando R; Ayuso, Carmen C

Publication Date: 2013-11

Variant appearance in text: ABCA4: 5041_5055del; Val1681_Cys1685del

PubMed Link: 23755871

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Stargardt macular dystrophy: common ABCA4 mutations in South Africa--establishment of a rapid genetic test and relating risk to patients.

Molecular Vision

Roberts, Lisa J LJ; Nossek, Christel A CA; Greenberg, L Jacquie LJ; Ramesar, Rajkumar S RS

Publication Date: 2012

Variant appearance in text: ABCR: V1681_C1685del

PubMed Link: 22328824

Variant Present in the following documents:

• Main text
• mv-v18-280.pdf

View BVdb publication page

---

ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis.

Molecular Vision

Maia-Lopes, Susana S; Aguirre-Lamban, Jana J; Castelo-Branco, Miguel M; Riveiro-Alvarez, Rosa R; Ayuso, Carmen C; Silva, Eduardo Duarte ED

Publication Date: 2009

Variant appearance in text: STGD: Val1681_Cys1685del

PubMed Link: 19365591

Variant Present in the following documents:

• Main text
• mv-v15-584.pdf

View BVdb publication page

---