Publications:

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Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.

Scientific Reports

Karali, Marianthi M; Testa, Francesco F; Di Iorio, Valentina V; Torella, Annalaura A; Zeuli, Roberta R; Scarpato, Margherita M; Romano, Francesca F; Onore, Maria Elena ME; Pizzo, Mariateresa M; Melillo, Paolo P; Brunetti-Pierri, Raffaella R; Passerini, Ilaria I; Pelo, Elisabetta E; Cremers, Frans P M FPM; Esposito, Gabriella G; Nigro, Vincenzo V; Simonelli, Francesca F; Banfi, Sandro S

Publication Date: 2022-12-02

Variant appearance in text: ABCA4: 5018+2T>C

PubMed Link: 36460718

Variant Present in the following documents:

• Main text
• 41598_2022_24636_MOESM2_ESM.xlsx, sheet 1
• 41598_2022_Article_24636.pdf

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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: 5018+2T>C

PubMed Link: 36178783

Variant Present in the following documents:

• tvst-11-9-34_s002.pdf

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Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy.

Scientific Reports

Falsini, Benedetto B; Placidi, Giorgio G; De Siena, Elisa E; Chiurazzi, Pietro P; Minnella, Angelo Maria AM; Savastano, Maria Cristina MC; Ziccardi, Lucia L; Parisi, Vincenzo V; Iarossi, Giancarlo G; Percio, Marcella M; Piteková, Barbora B; Marceddu, Giuseppe G; Maltese, Paolo Enrico PE; Bertelli, Matteo M

Publication Date: 2022-03-08

Variant appearance in text: ABCA4: 5018+2T>C; rs61750562

PubMed Link: 35260635

Variant Present in the following documents:

• 41598_2022_7618_MOESM1_ESM.pdf

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Choroidal Caverns in Stargardt Disease.

Investigative Ophthalmology & Visual Science

Mucciolo, Dario Pasquale DP; Giorgio, Dario D; Lippera, Myrta M; Dattilo, Valeria V; Passerini, Ilaria I; Pelo, Elisabetta E; Sodi, Andrea A; Virgili, Gianni G; Giansanti, Fabrizio F; Murro, Vittoria V

Publication Date: 2022-02-01

Variant appearance in text: ABCA4: 5018+2T>C

PubMed Link: 35156991

Variant Present in the following documents:

• Main text
• iovs-63-2-25.pdf

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A genotype-phenotype correlation matrix for ABCA4 disease based on long-term prognostic outcomes.

Jci Insight

Lee, Winston W; Zernant, Jana J; Su, Pei-Yin PY; Nagasaki, Takayuki T; Tsang, Stephen H SH; Allikmets, Rando R

Publication Date: 2022-01-25

Variant appearance in text: ABCA4: 5018+2T>C

PubMed Link: 34874912

Variant Present in the following documents:

• jciinsight-7-156154.pdf
• jciinsight-7-156154-s174.xlsx, sheet 1

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Absence of Genotype/Phenotype Correlations Requires Molecular Diagnostic to Ascertain Stargardt and Stargardt-Like Swiss Patients.

Genes

Buhler, Virginie M M VMM; Berger, Lieselotte L; Schaller, André A; Zinkernagel, Martin S MS; Wolf, Sebastian S; Escher, Pascal P

Publication Date: 2021-05-26

Variant appearance in text: ABCA4: 5018+2T>C

PubMed Link: 34073554

Variant Present in the following documents:

• Main text

View BVdb publication page

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RNA editing of BFP, a point mutant of GFP, using artificial APOBEC1 deaminase to restore the genetic code.

Scientific Reports

Bhakta, Sonali S; Sakari, Matomo M; Tsukahara, Toshifumi T

Publication Date: 2020-10-14

Variant appearance in text: ABCA4: 5018+2T>C

PubMed Link: 33057101

Variant Present in the following documents:

• 41598_2020_74374_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: 5018+2T>C

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: ABCA4: 5018+2T>C

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

View BVdb publication page

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Progressive Choriocapillaris Impairment in ABCA4 Maculopathy Is Secondary to Retinal Pigment Epithelium Atrophy.

Investigative Ophthalmology & Visual Science

Jauregui, Ruben R; Cho, Ahra A; Lee, Winston W; Zernant, Jana J; Allikmets, Rando R; Sparrow, Janet R JR; Tsang, Stephen H SH

Publication Date: 2020-04-09

Variant appearance in text: ABCA4: 5018+2T>C

PubMed Link: 32298433

Variant Present in the following documents:

• iovs-61-4-13_s001.pdf

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: ABCA4: 5018+2T>C; rs61750562

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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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: 5018+2T>C

PubMed Link: 29925512

Variant Present in the following documents:

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

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Integration of multigene panels for the diagnosis of hereditary retinal disorders using Next Generation Sequencing and bioinformatics approaches.

Ejifcc

Di Resta, Chiara C; Spiga, Ivana I; Presi, Silvia S; Merella, Stefania S; Pipitone, Giovanni Battista GB; Manitto, Maria Pia MP; Querques, Giuseppe G; Parodi, Maurizio Battaglia MB; Ferrari, Maurizio M; Carrera, Paola P

Publication Date: 2018-04

Variant appearance in text: ABCA4: 5018+2T>C

PubMed Link: 29765283

Variant Present in the following documents:

• Main text
• ejifcc-29-015.pdf

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The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease.

Ophthalmology

Tanaka, Koji K; Lee, Winston W; Zernant, Jana J; Schuerch, Kaspar K; Ciccone, Lyam L; Tsang, Stephen H SH; Sparrow, Janet R JR; Allikmets, Rando R

Publication Date: 2018-01

Variant appearance in text: ABCA4: 5018+2T>C

PubMed Link: 28947085

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multimodal analysis of the Preferred Retinal Location and the Transition Zone in patients with Stargardt Disease.

Graefe'S Archive For Clinical And Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie

Verdina, Tommaso T; Greenstein, Vivienne C VC; Sodi, Andrea A; Tsang, Stephen H SH; Burke, Tomas R TR; Passerini, Ilaria I; Allikmets, Rando R; Virgili, Gianni G; Cavallini, Gian Maria GM; Rizzo, Stanislao S

Publication Date: 2017-07

Variant appearance in text: ABCA4: 5018+2T>C

PubMed Link: 28365912

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 5018+2T>C

PubMed Link: 28118664

Variant Present in the following documents:

• iovs-57-15-69_s01.pdf
• iovs-57-15-69_s04.pdf
• iovs-57-15-69_s05.pdf

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Molecular findings from 537 individuals with inherited retinal disease.

Journal Of Medical Genetics

Ellingford, Jamie M JM; Barton, Stephanie S; Bhaskar, Sanjeev S; O'Sullivan, James J; Williams, Simon G SG; Lamb, Janine A JA; Panda, Binay B; Sergouniotis, Panagiotis I PI; Gillespie, Rachel L RL; Daiger, Stephen P SP; Hall, Georgina G; Gale, Theodora T; Lloyd, I Christopher IC; Bishop, Paul N PN; Ramsden, Simon C SC; Black, Graeme C M GCM

Publication Date: 2016-11

Variant appearance in text: ABCA4: 5018+2T>C

PubMed Link: 27208204

Variant Present in the following documents:

• jmedgenet-2016-103837supp_tables.pdf

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A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Immunity & Ageing : I & A

Villa, Francesco F; Maciąg, Anna A; Spinelli, Chiara C CC; Ferrario, Anna A; Carrizzo, Albino A; Parisi, Attilio A; Torella, Annalaura A; Montenero, Chiara C; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale S AS; Puca, Annibale A AA

Publication Date: 2014

Variant appearance in text: ABCA4: 5018+2T>C; rs61750562

PubMed Link: 25469153

Variant Present in the following documents:

• 12979_2014_19_MOESM2_ESM.xls, sheet 1

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Clinical and molecular characteristics of childhood-onset Stargardt disease.

Ophthalmology

Fujinami, Kaoru K; Zernant, Jana J; Chana, Ravinder K RK; Wright, Genevieve A GA; Tsunoda, Kazushige K; Ozawa, Yoko Y; Tsubota, Kazuo K; Robson, Anthony G AG; Holder, Graham E GE; Allikmets, Rando R; Michaelides, Michel M; Moore, Anthony T AT

Publication Date: 2015-02

Variant appearance in text: STGD: 5018+2T>C

PubMed Link: 25312043

Variant Present in the following documents:

• Main text
• nihms693250.pdf
• NIHMS693250-supplement-Table_4.pdf

View BVdb publication page

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The external limiting membrane in early-onset Stargardt disease.

Investigative Ophthalmology & Visual Science

Lee, Winston W; Nõupuu, Kalev K; Oll, Maris M; Duncker, Tobias T; Burke, Tomas T; Zernant, Jana J; Bearelly, Srilaxmi S; Tsang, Stephen H SH; Sparrow, Janet R JR; Allikmets, Rando R

Publication Date: 2014-08-19

Variant appearance in text: ABCA4: 5018+2T>C

PubMed Link: 25139735

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 5018+2T>C

PubMed Link: 24695063

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 5018+2T>C

PubMed Link: 23982839

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: STGD: 5018+2T>C

PubMed Link: 23755871

Variant Present in the following documents:

• Main text

View BVdb publication page

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