Publications:

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Monitoring Lesion Area Progression in Stargardt Disease: A Comparison of En Face Optical Coherence Tomography and Fundus Autofluorescence.

Translational Vision Science & Technology

Greenstein, Vivienne C VC; Castillejos, David S DS; Tsang, Stephen H SH; Lee, Winston W; Sparrow, Janet R JR; Allikmets, Rando R; Birch, David G DG; Hood, Donald C DC

Publication Date: 2023-05-01

Variant appearance in text: ABCA4: 1622T>C; Leu541Pro

PubMed Link: 37126335

Variant Present in the following documents:

• Main text
• tvst-12-5-2_s001.pdf
• tvst-12-5-2.pdf

View BVdb publication page

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Genetic Diagnosis for 64 Patients with Inherited Retinal Disease.

Genes

Lynn, Jacob J; Raney, Austin A; Britton, Nathaniel N; Ramoin, Josh J; Yang, Ryan W RW; Radojevic, Bojana B; McClard, Cynthia K CK; Kingsley, Ronald R; Coussa, Razek Georges RG; Bennett, Lea D LD

Publication Date: 2022-12-26

Variant appearance in text: ABCA4: 1622T>C

PubMed Link: 36672815

Variant Present in the following documents:

• genes-14-00074.pdf

View BVdb publication page

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Electroretinography as a Biomarker to Monitor the Progression of Stargardt Disease.

International Journal Of Molecular Sciences

Sajovic, Jana J; Meglič, Andrej A; Hawlina, Marko M; Fakin, Ana A

Publication Date: 2022-12-18

Variant appearance in text: ABCA4: Leu541Pro

PubMed Link: 36555803

Variant Present in the following documents:

• Main text
• ijms-23-16161.pdf

View BVdb publication page

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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: 1622T>C

PubMed Link: 36460718

Variant Present in the following documents:

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

View BVdb publication page

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A Rare Occurrence of Stargardt Disease in a Quadragenarian Adult.

Cureus

Maheshwari, Saket Y SY; Chakole, Swarupa S

Publication Date: 2022-10

Variant appearance in text: ABCA4: Leu541Pro

PubMed Link: 36457622

Variant Present in the following documents:

• Main text
• cureus-0014-00000030859.pdf

View BVdb publication page

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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: 1622T>C; Leu541Pro

PubMed Link: 36178783

Variant Present in the following documents:

• tvst-11-9-34_s002.pdf

View BVdb publication page

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Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals.

Frontiers In Genetics

Maltese, Paolo Enrico PE; Colombo, Leonardo L; Martella, Salvatore S; Rossetti, Luca L; El Shamieh, Said S; Sinibaldi, Lorenzo L; Passarelli, Chiara C; Coppè, Andrea Maria AM; Buzzonetti, Luca L; Falsini, Benedetto B; Chiurazzi, Pietro P; Placidi, Giorgio G; Tanzi, Benedetta B; Bertelli, Matteo M; Iarossi, Giancarlo G

Publication Date: 2022

Variant appearance in text: ABCA4: 1622T>C; Leu541Pro; rs61751392

PubMed Link: 35836572

Variant Present in the following documents:

• Table1.xlsx, sheet 4
• Table1.xlsx, sheet 5

View BVdb publication page

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Genetic dissection of non-syndromic retinitis pigmentosa.

Indian Journal Of Ophthalmology

Bhardwaj, Aarti A; Yadav, Anshu A; Yadav, Manoj M; Tanwar, Mukesh M

Publication Date: 2022-07

Variant appearance in text: ABCA4: Leu541Pro

PubMed Link: 35791117

Variant Present in the following documents:

• IJO-70-2355.pdf

View BVdb publication page

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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: Leu541Pro

PubMed Link: 35260635

Variant Present in the following documents:

• 41598_2022_7618_MOESM1_ESM.pdf
• 41598_2022_Article_7618.pdf

View BVdb publication page

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The Scope of Pathogenic ABCA4 Mutations Targetable by CRISPR DNA Base Editing Systems-A Systematic Review.

Frontiers In Genetics

Piotter, Elena E; McClements, Michelle E ME; MacLaren, Robert E RE

Publication Date: 2021

Variant appearance in text: ABCA4: 1622T>C

PubMed Link: 35154257

Variant Present in the following documents:

• Main text

View BVdb publication page

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Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.

Investigative Ophthalmology & Visual Science

Del Pozo-Valero, Marta M; Riveiro-Alvarez, Rosa R; Martin-Merida, Inmaculada I; Blanco-Kelly, Fiona F; Swafiri, Saoud S; Lorda-Sanchez, Isabel I; Trujillo-Tiebas, Maria José MJ; Carreño, Ester E; Jimenez-Rolando, Belen B; Garcia-Sandoval, Blanca B; Corton, Marta M; Avila-Fernandez, Almudena A; Ayuso, Carmen C

Publication Date: 2022-02-01

Variant appearance in text: ABCA4: 1622T>C

PubMed Link: 35119454

Variant Present in the following documents:

• iovs-63-2-11_s003.pdf

View BVdb publication page

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Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.

Investigative Ophthalmology & Visual Science

Del Pozo-Valero, Marta M; Riveiro-Alvarez, Rosa R; Martin-Merida, Inmaculada I; Blanco-Kelly, Fiona F; Swafiri, Saoud S; Lorda-Sanchez, Isabel I; Trujillo-Tiebas, Maria José MJ; Carreño, Ester E; Jimenez-Rolando, Belen B; Garcia-Sandoval, Blanca B; Corton, Marta M; Avila-Fernandez, Almudena A; Ayuso, Carmen C

Publication Date: 2022-02-01

Variant appearance in text: ABCA4: 1622T>C

PubMed Link: 35119454

Variant Present in the following documents:

• iovs-63-2-11_s003.pdf

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: ABCA4: L541P; rs61751392

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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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: Leu541Pro

PubMed Link: 35089312

Variant Present in the following documents:

• Main text
• tvst-11-1-36.pdf

View BVdb publication page

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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: Leu541Pro

PubMed Link: 35089312

Variant Present in the following documents:

• Main text
• tvst-11-1-36.pdf

View BVdb publication page

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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: Leu541Pro

PubMed Link: 34874912

Variant Present in the following documents:

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

View BVdb publication page

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High-Throughput Sequencing to Identify Mutations Associated with Retinal Dystrophies.

Genes

Song, Fei F; Owczarek-Lipska, Marta M; Ahmels, Tim T; Book, Marius M; Aisenbrey, Sabine S; Menghini, Moreno M; Barthelmes, Daniel D; Schrader, Stefan S; Spital, Georg G; Neidhardt, John J

Publication Date: 2021-08-20

Variant appearance in text: ABCA4: 1622T>C

PubMed Link: 34440443

Variant Present in the following documents:

• Main text

View BVdb publication page

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Therapy Approaches for Stargardt Disease.

Biomolecules

Piotter, Elena E; McClements, Michelle E ME; MacLaren, Robert E RE

Publication Date: 2021-08-09

Variant appearance in text: STGD1: Leu541Pro

PubMed Link: 34439845

Variant Present in the following documents:

• Main text
• biomolecules-11-01179.pdf

View BVdb publication page

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Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes.

Molecular Vision

Tracewska, Anna M AM; Kocyła-Karczmarewicz, Beata B; Rafalska, Agnieszka A; Murawska, Joanna J; Jakubaszko-Jabłónska, Joanna J; Rydzanicz, Małgorzata M; Stawiński, Piotr P; Ciara, Elżbieta E; Lipska-Ziętkiewicz, Beata S BS; Khan, Muhammad Imran MI; Cremers, Frans P M FPM; Płoski, Rafał R; Chrzanowska, Krystyna H KH

Publication Date: 2021

Variant appearance in text: ABCA4: 1622T>C

PubMed Link: 34321860

Variant Present in the following documents:

• Main text
• mv-v27-457.pdf

View BVdb publication page

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: ABCA4: 1622T>C; Leu541Pro; rs61751392

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: 1622T>C

PubMed Link: 34073554

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular genetics of inherited retinal degenerations in Icelandic patients.

Clinical Genetics

Thorsteinsson, Daniel A DA; Stefansdottir, Vigdis V; Eysteinsson, Thor T; Thorisdottir, Sigridur S; Jonsson, Jon J JJ

Publication Date: 2021-08

Variant appearance in text: ABCA4: 1622T>C; Leu541Pro

PubMed Link: 33851411

Variant Present in the following documents:

• Main text
• CGE-100-156.pdf

View BVdb publication page

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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: Leu541Pro

PubMed Link: 33841504

Variant Present in the following documents:

• Main text
• Data_Sheet_2.xlsx, sheet 3

View BVdb publication page

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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: ABCA4: 1622T>C; Leu541Pro

PubMed Link: 33749171

Variant Present in the following documents:

• MGG3-9-e1663-s001.xlsx, sheet 1

View BVdb publication page

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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: ABCA4: 1622T>C; Leu541Pro

PubMed Link: 33749171

Variant Present in the following documents:

• MGG3-9-e1663-s001.xlsx, sheet 1

View BVdb publication page

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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: 1622T>C; L541P

PubMed Link: 33505770

Variant Present in the following documents:

• tvst-10-1-3_s002.pdf

View BVdb publication page

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Thinner temporal peripapillary retinal nerve fibre layer in Stargardt disease detected by optical coherence tomography.

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

Reich, Michael M; Lübke, Jan J; Joachimsen, Lutz L; Stifter, Julia J; Küchlin, Sebastian S; Böhringer, Daniel D; Lange, Clemens C; Lagrèze, Wolf A WA

Publication Date: 2021-06

Variant appearance in text: STGD: 1622T>C

PubMed Link: 33185728

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel variants of ABCA4 in Han Chinese families with Stargardt disease.

Bmc Medical Genetics

Hu, Fang-Yuan FY; Gao, Feng-Juan FJ; Li, Jian-Kang JK; Xu, Ping P; Wang, Dan-Dan DD; Zhang, Sheng-Hai SH; Wu, Ji-Hong JH

Publication Date: 2020-10-31

Variant appearance in text: STGD1: Leu541Pro

PubMed Link: 33129279

Variant Present in the following documents:

• Main text
• 12881_2020_Article_1152.pdf

View BVdb publication page

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58th Annual Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV 2020) : 14-16 September 2020.

Documenta Ophthalmologica. Advances In Ophthalmology

Publication Date: 2020-09

Variant appearance in text: ABCA4: L541P

PubMed Link: 32915376

Variant Present in the following documents:

• 10633_2020_Article_9789.pdf

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: L541P

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

View BVdb publication page

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Biofeedback Rehabilitation and Visual Cortex Response in Stargardt's Disease: A Randomized Controlled Trial.

Translational Vision Science & Technology

Melillo, Paolo P; Prinster, Anna A; Di Iorio, Valentina V; Olivo, Gaia G; D'Alterio, Francesco Maria FM; Cocozza, Sirio S; Quarantelli, Mario M; Testa, Francesco F; Brunetti, Arturo A; Simonelli, Francesca F

Publication Date: 2020-05

Variant appearance in text: STGD1: L541P

PubMed Link: 32821503

Variant Present in the following documents:

• Main text

View BVdb publication page

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The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates.

American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics

Méjécase, Cécile C; Kozak, Igor I; Moosajee, Mariya M

Publication Date: 2020-09

Variant appearance in text: ABCA4: 1622T>C; Leu541Pro

PubMed Link: 32783370

Variant Present in the following documents:

• Main text
• AJMG-184-762.pdf

View BVdb publication page

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Optical Gap Biomarker in Cone-Dominant Retinal Dystrophy.

American Journal Of Ophthalmology

Oh, Jin Kyun JK; Ryu, Joseph J; Lima de Carvalho, Jose Ronaldo JR; Levi, Sarah R SR; Lee, Winston W; Tsamis, Emmanouil E; Greenstein, Vivienne C VC; Mahajan, Vinit B VB; Allikmets, Rando R; Tsang, Stephen H SH

Publication Date: 2020-10

Variant appearance in text: ABCA4: 1622T>C

PubMed Link: 32445700

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles.

International Journal Of Molecular Sciences

Ścieżyńska, Aneta A; Soszyńska, Marta M; Komorowski, Michał M; Podgórska, Anna A; Krześniak, Natalia N; Nogowska, Aleksandra A; Smolińska, Martyna M; Szulborski, Kamil K; Szaflik, Jacek P JP; Noszczyk, Bartłomiej B; Ołdak, Monika M; Malejczyk, Jacek J

Publication Date: 2020-05-13

Variant appearance in text: ABCA4: Leu541Pro

PubMed Link: 32413971

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.

Progress In Retinal And Eye Research

Cremers, Frans P M FPM; Lee, Winston W; Collin, Rob W J RWJ; Allikmets, Rando R

Publication Date: 2020-11

Variant appearance in text: ABCA4: Leu541Pro

PubMed Link: 32278709

Variant Present in the following documents:

• Main text
• nihms-1627942.pdf

View BVdb publication page

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Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.

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

Zampaglione, Erin E; Kinde, Benyam B; Place, Emily M EM; Navarro-Gomez, Daniel D; Maher, Matthew M; Jamshidi, Farzad F; Nassiri, Sherwin S; Mazzone, J Alex JA; Finn, Caitlin C; Schlegel, Dana D; Comander, Jason J; Pierce, Eric A EA; Bujakowska, Kinga M KM

Publication Date: 2020-06

Variant appearance in text: ABCA4: 1622T>C; Leu541Pro

PubMed Link: 32037395

Variant Present in the following documents:

• 41436_2020_759_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Scientific Reports

Xiang, Jiale J; Yang, Jiyun J; Chen, Lisha L; Chen, Qiang Q; Yang, Haiyan H; Sun, Chengcheng C; Zhou, Qing Q; Peng, Zhiyu Z

Publication Date: 2020-01-15

Variant appearance in text: ABCA4: L541P

PubMed Link: 31942019

Variant Present in the following documents:

• 41598_2019_57335_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Monitoring and Management of the Patient with Stargardt Disease.

Clinical Optometry

Cicinelli, Maria Vittoria MV; Battista, Marco M; Starace, Vincenzo V; Battaglia Parodi, Maurizio M; Bandello, Francesco F

Publication Date: 2019

Variant appearance in text: ABCA4: Leu541Pro

PubMed Link: 31819694

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genotypic profile and phenotype correlations of ABCA4-associated retinopathy in Koreans.

Molecular Vision

Joo, Kwangsic K; Seong, Moon-Woo MW; Park, Kyu Hyung KH; Park, Sung Sup SS; Woo, Se Joon SJ

Publication Date: 2019

Variant appearance in text: STGD: Leu541Pro

PubMed Link: 31814693

Variant Present in the following documents:

• Main text

View BVdb publication page

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Characterisation of vascular changes in different stages of Stargardt disease using double swept-source optical coherence tomography angiography.

Bmj Open Ophthalmology

Reich, Michael M; Glatz, Andreas A; Cakir, Bertan B; Böhringer, Daniel D; Lang, Stefan S; Küchlin, Sebastian S; Joachimsen, Lutz L; Lagreze, Wolf W; Agostini, Hansjuergen T HT; Lange, Clemens C

Publication Date: 2019

Variant appearance in text: STGD: 1622T>C

PubMed Link: 31799409

Variant Present in the following documents:

• Main text
• bmjophth-2019-000318.pdf

View BVdb publication page

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Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland.

Genes

Tracewska, Anna M AM; Kocyła-Karczmarewicz, Beata B; Rafalska, Agnieszka A; Murawska, Joanna J; Jakubaszko-Jablonska, Joanna J; Rydzanicz, Małgorzata M; Stawiński, Piotr P; Ciara, Elżbieta E; Khan, Muhammad Imran MI; Henkes, Arjen A; Hoischen, Alexander A; Gilissen, Christian C; van de Vorst, Maartje M; Cremers, Frans P M FPM; Płoski, Rafał R; Chrzanowska, Krystyna H KH

Publication Date: 2019-11-21

Variant appearance in text: ABCA4: 1622T>C

PubMed Link: 31766579

Variant Present in the following documents:

• Main text

View BVdb publication page

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Antioxidant Saffron and Central Retinal Function in ABCA4-Related Stargardt Macular Dystrophy.

Nutrients

Piccardi, Marco M; Fadda, Antonello A; Martelli, Francesco F; Marangoni, Dario D; Magli, Adriano A; Minnella, Angelo M AM; Bertelli, Matteo M; Di Marco, Stefano S; Bisti, Silvia S; Falsini, Benedetto B

Publication Date: 2019-10-15

Variant appearance in text: ABCA4: 1622T>C

PubMed Link: 31618812

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prevalence of ABCA4 Deep-Intronic Variants and Related Phenotype in An Unsolved "One-Hit" Cohort with Stargardt Disease.

International Journal Of Molecular Sciences

Nassisi, Marco M; Mohand-Saïd, Saddek S; Andrieu, Camille C; Antonio, Aline A; Condroyer, Christel C; Méjécase, Cécile C; Varin, Juliette J; Wohlschlegel, Juliette J; Dhaenens, Claire-Marie CM; Sahel, José-Alain JA; Zeitz, Christina C; Audo, Isabelle I

Publication Date: 2019-10-11

Variant appearance in text: STGD1: Leu541Pro

PubMed Link: 31614660

Variant Present in the following documents:

• Main text

View BVdb publication page

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ABCA4 Gene Screening in a Chinese Cohort With Stargardt Disease: Identification of 37 Novel Variants.

Frontiers In Genetics

Hu, Fang-Yuan FY; Li, Jian-Kang JK; Gao, Feng-Juan FJ; Qi, Yu-He YH; Xu, Ping P; Zhang, Yong-Jin YJ; Wang, Dan-Dan DD; Wang, Lu-Sheng LS; Li, Wei W; Wang, Min M; Chen, Fang F; Shen, Si-Mai SM; Xu, Ge-Zhi GZ; Zhang, Sheng-Hai SH; Chang, Qing Q; Wu, Ji-Hong JH

Publication Date: 2019

Variant appearance in text: STGD1: L541P

PubMed Link: 31543898

Variant Present in the following documents:

• Main text

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Correlation between Choriocapillaris Density and Retinal Sensitivity in Stargardt Disease.

Journal Of Clinical Medicine

Mastropasqua, Rodolfo R; Senatore, Alfonso A; Di Antonio, Luca L; Di Nicola, Marta M; Marchioni, Michele M; Perna, Fabiana F; Amore, Filippo F; Borrelli, Enrico E; De Nicola, Chiara C; Carpineto, Paolo P; Toto, Lisa L

Publication Date: 2019-09-10

Variant appearance in text: ABCA4: 1622T>C

PubMed Link: 31510083

Variant Present in the following documents:

• Main text
• jcm-08-01432.pdf

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Lessons learned from quantitative fundus autofluorescence.

Progress In Retinal And Eye Research

Sparrow, Janet R JR; Duncker, Tobias T; Schuerch, Kaspar K; Paavo, Maarjaliis M; de Carvalho, Jose Ronaldo Lima JRL

Publication Date: 2020-01

Variant appearance in text: ABCA4: L541P

PubMed Link: 31472235

Variant Present in the following documents:

• Main text

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Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4.

Human Mutation

Fadaie, Zeinab Z; Khan, Mubeen M; Del Pozo-Valero, Marta M; Cornelis, Stéphanie S SS; Ayuso, Carmen C; Cremers, Frans P M FPM; Roosing, Susanne S; The Abca Study Group,

Publication Date: 2019-12

Variant appearance in text: STGD1: Leu541Pro

PubMed Link: 31397521

Variant Present in the following documents:

• HUMU-40-2365-s001.pdf

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Multi-platform imaging in ABCA4-Associated Disease.

Scientific Reports

Chen, Lijuan L; Lee, Winston W; de Carvalho, Jose Ronaldo Lima JRL; Chang, Stanley S; Tsang, Stephen H SH; Allikmets, Rando R; Sparrow, Janet R JR

Publication Date: 2019-04-23

Variant appearance in text: ABCA4: L541P

PubMed Link: 31015497

Variant Present in the following documents:

• Main text
• 41598_2019_Article_42772.pdf

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Cross-Sectional and Longitudinal Assessment of the Ellipsoid Zone in Childhood-Onset Stargardt Disease.

Translational Vision Science & Technology

Tanna, Preena P; Georgiou, Michalis M; Strauss, Rupert W RW; Ali, Naser N; Kumaran, Neruban N; Kalitzeos, Angelos A; Fujinami, Kaoru K; Michaelides, Michel M

Publication Date: 2019-03

Variant appearance in text: STGD1: 1622T>C

PubMed Link: 30834176

Variant Present in the following documents:

• Main text
• i2164-2591-8-2-1.pdf

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Correlation of Outer Retinal Degeneration and Choriocapillaris Loss in Stargardt Disease Using En Face Optical Coherence Tomography and Optical Coherence Tomography Angiography.

American Journal Of Ophthalmology

Alabduljalil, Talal T; Patel, Rachel C RC; Alqahtani, Abdullah A AA; Gao, Simon S SS; Gale, Michael J MJ; Zhang, Miao M; Jia, Yali Y; Huang, David D; Chiang, Pei-Wen PW; Chen, Rui R; Wang, Jun J; Weleber, Richard G RG; Pennesi, Mark E ME; Yang, Paul P

Publication Date: 2019-06

Variant appearance in text: ABCA4: 1622T>C

PubMed Link: 30771335

Variant Present in the following documents:

• Main text

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Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

Scientific Reports

Jespersgaard, Cathrine C; Fang, Mingyan M; Bertelsen, Mette M; Dang, Xiao X; Jensen, Hanne H; Chen, Yulan Y; Bech, Niels N; Dai, Lanlan L; Rosenberg, Thomas T; Zhang, Jianguo J; Møller, Lisbeth Birk LB; Tümer, Zeynep Z; Brøndum-Nielsen, Karen K; Grønskov, Karen K

Publication Date: 2019-02-04

Variant appearance in text: ABCA4: 1622T>C; Leu541Pro

PubMed Link: 30718709

Variant Present in the following documents:

• 41598_2018_38007_MOESM2_ESM.xlsx, sheet 1

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Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.

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

Sangermano, Riccardo R; Garanto, Alejandro A; Khan, Mubeen M; Runhart, Esmee H EH; Bauwens, Miriam M; Bax, Nathalie M NM; van den Born, L Ingeborgh LI; Khan, Muhammad Imran MI; Cornelis, Stéphanie S SS; Verheij, Joke B G M JBGM; Pott, Jan-Willem R JR; Thiadens, Alberta A H J AAHJ; Klaver, Caroline C W CCW; Puech, Bernard B; Meunier, Isabelle I; Naessens, Sarah S; Arno, Gavin G; Fakin, Ana A; Carss, Keren J KJ; Raymond, F Lucy FL; Webster, Andrew R AR; Dhaenens, Claire-Marie CM; Stöhr, Heidi H; Grassmann, Felix F; Weber, Bernhard H F BHF; Hoyng, Carel B CB; De Baere, Elfride E; Albert, Silvia S; Collin, Rob W J RWJ; Cremers, Frans P M FPM

Publication Date: 2019-08

Variant appearance in text: ABCA4: Leu541Pro

PubMed Link: 30643219

Variant Present in the following documents:

• 41436_2018_Article_414.pdf

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