Publications:

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Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant ABCA4 c.5461-10T>C.

Molecular Therapy. Nucleic Acids

Kaltak, Melita M; de Bruijn, Petra P; Piccolo, Davide D; Lee, Sang-Eun SE; Dulla, Kalyan K; Hoogenboezem, Thomas T; Beumer, Wouter W; Webster, Andrew R AR; Collin, Rob W J RWJ; Cheetham, Michael E ME; Platenburg, Gerard G; Swildens, Jim J

Publication Date: 2023-03-14

Variant appearance in text: ABCA4: 4539+2001G>A

PubMed Link: 36910710

Variant Present in the following documents:

• mmc3.pdf
• main.pdf

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Correction of the Splicing Defect Caused by a Recurrent Variant in ABCA4 (c.769-784C>T) That Underlies Stargardt Disease.

Cells

Tomkiewicz, Tomasz Z TZ; Nieuwenhuis, Sara E SE; Cremers, Frans P M FPM; Garanto, Alejandro A; Collin, Rob W J RWJ

Publication Date: 2022-12-07

Variant appearance in text: ABCA4: 4539+2001G>A

PubMed Link: 36552712

Variant Present in the following documents:

• cells-11-03947.pdf

View BVdb publication page

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The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner.

Cells

Vázquez-Domínguez, Irene I; Duijkers, Lonneke L; Fadaie, Zeinab Z; Alaerds, Eef C W ECW; Post, Merel A MA; van Oosten, Edwin M EM; O'Gorman, Luke L; Kwint, Michael M; Koolen, Louet L; Hoogendoorn, Anita D M ADM; Kroes, Hester Y HY; Gilissen, Christian C; Cremers, Frans P M FPM; Collin, Rob W J RWJ; Roosing, Susanne S; Garanto, Alejandro A

Publication Date: 2022-11-17

Variant appearance in text: ABCA4: 4539+2001G>A

PubMed Link: 36429068

Variant Present in the following documents:

• cells-11-03640.pdf

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Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.

Human Mutation

Hitti-Malin, Rebekkah J RJ; Dhaenens, Claire-Marie CM; Panneman, Daan M DM; Corradi, Zelia Z; Khan, Mubeen M; den Hollander, Anneke I AI; Farrar, G Jane GJ; Gilissen, Christian C; Hoischen, Alexander A; van de Vorst, Maartje M; Bults, Femke F; Boonen, Erica G M EGM; Saunders, Patrick P; , ; Roosing, Susanne S; Cremers, Frans P M FPM

Publication Date: 2022-10-19

Variant appearance in text: ABCA4: 4539+2001G>A

PubMed Link: 36259723

Variant Present in the following documents:

• HUMU-43-2234-s012.xlsx, sheet 1
• HUMU-43-2234-s007.xlsx, sheet 1

View BVdb publication page

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RPE65 c.353G>A, p.(Arg118Lys): A Novel Point Mutation Associated with Retinitis Pigmentosa and Macular Atrophy.

International Journal Of Molecular Sciences

Bjeloš, Mirjana M; Bušić, Mladen M; Ćurić, Ana A; Šarić, Borna B; Bosnar, Damir D; Marković, Leon L; Kuzmanović Elabjer, Biljana B; Rak, Benedict B

Publication Date: 2022-09-10

Variant appearance in text: ABCA4: 4539+2001G>A

PubMed Link: 36142423

Variant Present in the following documents:

• Main text
• ijms-23-10513.pdf

View BVdb publication page

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Effective splicing restoration of a deep-intronic ABCA4 variant in cone photoreceptor precursor cells by CRISPR/SpCas9 approaches.

Molecular Therapy. Nucleic Acids

De Angeli, Pietro P; Reuter, Peggy P; Hauser, Stefan S; Schöls, Ludger L; Stingl, Katarina K; Wissinger, Bernd B; Kohl, Susanne S

Publication Date: 2022-09-13

Variant appearance in text: ABCA4: 4539+2001G>A

PubMed Link: 35991315

Variant Present in the following documents:

• mmc2.pdf
• main.pdf

View BVdb publication page

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Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.

Frontiers In Genetics

Keegan, Niall P NP; Wilton, Steve D SD; Fletcher, Sue S

Publication Date: 2022

Variant appearance in text: ABCA4: 4539+2001G>A

PubMed Link: 35754842

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 1

View BVdb publication page

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Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular Dystrophy.

Investigative Ophthalmology & Visual Science

Vázquez-Domínguez, Irene I; Li, Catherina H Z CHZ; Fadaie, Zeinab Z; Haer-Wigman, Lonneke L; Cremers, Frans P M FPM; Garanto, Alejandro A; Hoyng, Carel B CB; Roosing, Susanne S

Publication Date: 2022-05-02

Variant appearance in text: ABCA4: 4539+2001G>A

PubMed Link: 35608844

Variant Present in the following documents:

• iovs-63-5-27_s001.pdf
• iovs-63-5-27.pdf

View BVdb publication page

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ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease.

Investigative Ophthalmology & Visual Science

Corradi, Zelia Z; Salameh, Manar M; Khan, Mubeen M; Héon, Elise E; Mishra, Ketan K; Hitti-Malin, Rebekkah J RJ; AlSwaiti, Yahya Y; Aslanian, Alice A; Banin, Eyal E; Brooks, Brian P BP; Zein, Wadih M WM; Hufnagel, Robert B RB; Roosing, Susanne S; Dhaenens, Claire-Marie CM; Sharon, Dror D; Cremers, Frans P M FPM; AlTalbishi, Alaa A

Publication Date: 2022-04-01

Variant appearance in text: ABCA4: 4539+2001G>A

PubMed Link: 35475888

Variant Present in the following documents:

• iovs-63-4-20.pdf

View BVdb publication page

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The role of multimodal imaging and vision function testing in ABCA4-related retinopathies and their relevance to future therapeutic interventions.

Therapeutic Advances In Ophthalmology

Al-Khuzaei, Saoud S; Shah, Mital M; Foster, Charlotte R CR; Yu, Jing J; Broadgate, Suzanne S; Halford, Stephanie S; Downes, Susan M SM

Publication Date: 2021

Variant appearance in text: ABCA4: 4539+2001G>A

PubMed Link: 34988368

Variant Present in the following documents:

• 10.1177_25158414211056384.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: 4539+2001G>A

PubMed Link: 34874912

Variant Present in the following documents:

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

View BVdb publication page

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Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.

Npj Genomic Medicine

Fadaie, Zeinab Z; Whelan, Laura L; Ben-Yosef, Tamar T; Dockery, Adrian A; Corradi, Zelia Z; Gilissen, Christian C; Haer-Wigman, Lonneke L; Corominas, Jordi J; Astuti, Galuh D N GDN; de Rooij, Laura L; van den Born, L Ingeborgh LI; Klaver, Caroline C W CCW; Hoyng, Carel B CB; Wynne, Niamh N; Duignan, Emma S ES; Kenna, Paul F PF; Cremers, Frans P M FPM; Farrar, G Jane GJ; Roosing, Susanne S

Publication Date: 2021-11-18

Variant appearance in text: ABCA4: 4539+2001G>A

PubMed Link: 34795310

Variant Present in the following documents:

• Main text
• 41525_2021_Article_261.pdf

View BVdb publication page

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Gene Therapy in Inherited Retinal Diseases: An Update on Current State of the Art.

Frontiers In Medicine

Amato, Alessia A; Arrigo, Alessandro A; Aragona, Emanuela E; Manitto, Maria Pia MP; Saladino, Andrea A; Bandello, Francesco F; Battaglia Parodi, Maurizio M

Publication Date: 2021

Variant appearance in text: ABCA4: 4539+2001G>A

PubMed Link: 34722588

Variant Present in the following documents:

• fmed-08-750586.pdf

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Gene Therapy for Rhodopsin-associated Autosomal Dominant Retinitis Pigmentosa.

International Ophthalmology Clinics

Massengill, Michael T MT; Lewin, Alfred S AS

Publication Date: 2021-10-01

Variant appearance in text: ABCA4: 4539+2001G>A

PubMed Link: 34584046

Variant Present in the following documents:

• iio-61-079.pdf

View BVdb publication page

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An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story.

Genes

Al-Khuzaei, Saoud S; Broadgate, Suzanne S; Foster, Charlotte R CR; Shah, Mital M; Yu, Jing J; Downes, Susan M SM; Halford, Stephanie S

Publication Date: 2021-08-13

Variant appearance in text: ABCA4: 4539+2001G>A

PubMed Link: 34440414

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: ABCA4: 4539+2001G>A

PubMed Link: 34439845

Variant Present in the following documents:

• biomolecules-11-01179.pdf

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Antisense Oligonucleotide-Based Rescue of Aberrant Splicing Defects Caused by 15 Pathogenic Variants in ABCA4.

International Journal Of Molecular Sciences

Tomkiewicz, Tomasz Z TZ; Suárez-Herrera, Nuria N; Cremers, Frans P M FPM; Collin, Rob W J RWJ; Garanto, Alejandro A

Publication Date: 2021-04-28

Variant appearance in text: ABCA4: 4539+2001G>A

PubMed Link: 33924840

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Comprehensive Analysis and Splicing Characterization of Naturally Occurring Synonymous Variants in the ATP7B Gene.

Frontiers In Genetics

Zhou, Xiaoying X; Zhou, Wei W; Wang, Chunli C; Wang, Lan L; Jin, Yu Y; Jia, Zhanjun Z; Liu, Zhifeng Z; Zheng, Bixia B

Publication Date: 2020

Variant appearance in text: ABCA4: 4539+2001G>A

PubMed Link: 33719328

Variant Present in the following documents:

• fgene-11-592611.pdf

View BVdb publication page

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Antisense Oligonucleotide- and CRISPR-Cas9-Mediated Rescue of mRNA Splicing for a Deep Intronic CLRN1 Mutation.

Molecular Therapy. Nucleic Acids

Panagiotopoulos, Anna-Lena AL; Karguth, Nina N; Pavlou, Marina M; Böhm, Sybille S; Gasparoni, Gilles G; Walter, Jörn J; Graf, Alexander A; Blum, Helmut H; Biel, Martin M; Riedmayr, Lisa Maria LM; Becirovic, Elvir E

Publication Date: 2020-09-04

Variant appearance in text: ABCA4: 4539+2001G>A

PubMed Link: 32841912

Variant Present in the following documents:

• mmc2.pdf
• main.pdf

View BVdb publication page

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Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease.

Molecular Therapy. Nucleic Acids

Khan, Mubeen M; Arno, Gavin G; Fakin, Ana A; Parfitt, David A DA; Dhooge, Patty P A PPA; Albert, Silvia S; Bax, Nathalie M NM; Duijkers, Lonneke L; Niblock, Michael M; Hau, Kwan L KL; Bloch, Edward E; Schiff, Elena R ER; Piccolo, Davide D; Hogden, Michael C MC; Hoyng, Carel B CB; Webster, Andrew R AR; Cremers, Frans P M FPM; Cheetham, Michael E ME; Garanto, Alejandro A; Collin, Rob W J RWJ

Publication Date: 2020-09-04

Variant appearance in text: ABCA4: 4539+2001G>A

PubMed Link: 32653833

Variant Present in the following documents:

• mmc6.pdf
• main.pdf

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: 4539+2001G>A

PubMed Link: 32278709

Variant Present in the following documents:

• Main text

View BVdb publication page

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Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants.

Genes

Toulis, Vasileios V; Cortés-González, Vianney V; Castro-Miró, Marta de M; Sallum, Juliana Ferraz JF; Català-Mora, Jaume J; Villanueva-Mendoza, Cristina C; Ciccioli, Marcela M; Gonzàlez-Duarte, Roser R; Valero, Rebeca R; Marfany, Gemma G

Publication Date: 2020-03-31

Variant appearance in text: ABCA4: 4539+2001G>A

PubMed Link: 32244552

Variant Present in the following documents:

• genes-11-00378.pdf

View BVdb publication page

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The Scope for Thalassemia Gene Therapy by Disruption of Aberrant Regulatory Elements.

Journal Of Clinical Medicine

Patsali, Petros P; Mussolino, Claudio C; Ladas, Petros P; Floga, Argyro A; Kolnagou, Annita A; Christou, Soteroula S; Sitarou, Maria M; Antoniou, Michael N MN; Cathomen, Toni T; Lederer, Carsten Werner CW; Kleanthous, Marina M

Publication Date: 2019-11-13

Variant appearance in text: rs1457937638

PubMed Link: 31766235

Variant Present in the following documents:

• Main text
• jcm-08-01959.pdf

View BVdb publication page

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Molecular Therapies for Inherited Retinal Diseases-Current Standing, Opportunities and Challenges.

Genes

Vázquez-Domínguez, Irene I; Garanto, Alejandro A; Collin, Rob W J RWJ

Publication Date: 2019-08-28

Variant appearance in text: ABCA4: 4539+2001G>A

PubMed Link: 31466352

Variant Present in the following documents:

• genes-10-00654.pdf

View BVdb publication page

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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: ABCA4: 4539+2001G>A

PubMed Link: 31397521

Variant Present in the following documents:

• Main text
• HUMU-40-2365.pdf

View BVdb publication page

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Antisense Oligonucleotide Screening to Optimize the Rescue of the Splicing Defect Caused by the Recurrent Deep-Intronic ABCA4 Variant c.4539+2001G>A in Stargardt Disease.

Genes

Garanto, Alejandro A; Duijkers, Lonneke L; Tomkiewicz, Tomasz Z TZ; Collin, Rob W J RWJ

Publication Date: 2019-06-14

Variant appearance in text: ABCA4: 4539+2001G>A

PubMed Link: 31197102

Variant Present in the following documents:

• Main text
• genes-10-00452.pdf

View BVdb publication page

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A novel intronic mutation of PDE6B is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews.

Molecular Vision

Tatour, Yasmin Y; Tamaiev, Jonathan J; Shamaly, Shamaly S; Colombo, Roberto R; Bril, Ephrat E; Rabinowitz, Tom T; Yaakobi, Alona A; Mezer, Eedy E; Leibu, Rina R; Tiosano, Beatrice B; Shomron, Noam N; Chowers, Itay I; Banin, Eyal E; Sharon, Dror D; Ben-Yosef, Tamar T

Publication Date: 2019

Variant appearance in text: ABCA4: 4539+2001G>A

PubMed Link: 30820151

Variant Present in the following documents:

• Main text
• mv-v25-155.pdf

View BVdb publication page

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ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.

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

Bauwens, Miriam M; Garanto, Alejandro A; Sangermano, Riccardo R; Naessens, Sarah S; Weisschuh, Nicole N; De Zaeytijd, Julie J; Khan, Mubeen M; Sadler, Françoise F; Balikova, Irina I; Van Cauwenbergh, Caroline C; Rosseel, Toon T; Bauwens, Jim J; De Leeneer, Kim K; De Jaegere, Sarah S; Van Laethem, Thalia T; De Vries, Meindert M; Carss, Keren K; Arno, Gavin G; Fakin, Ana A; Webster, Andrew R AR; de Ravel de l'Argentière, Thomy J L TJL; Sznajer, Yves Y; Vuylsteke, Marnik M; Kohl, Susanne S; Wissinger, Bernd B; Cherry, Timothy T; Collin, Rob W J RWJ; Cremers, Frans P M FPM; Leroy, Bart P BP; De Baere, Elfride E

Publication Date: 2019-08

Variant appearance in text: ABCA4: 4539+2001G>A

PubMed Link: 30670881

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 4539+2001G>A

PubMed Link: 30643219

Variant Present in the following documents:

• Main text
• 41436_2018_Article_414.pdf
• 41436_2018_414_MOESM1_ESM.pdf

View BVdb publication page

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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: 4539+2001G>A

PubMed Link: 30055151

Variant Present in the following documents:

• Main text

View BVdb publication page

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Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes.

Cold Spring Harbor Molecular Case Studies

Zernant, Jana J; Lee, Winston W; Nagasaki, Takayuki T; Collison, Frederick T FT; Fishman, Gerald A GA; Bertelsen, Mette M; Rosenberg, Thomas T; Gouras, Peter P; Tsang, Stephen H SH; Allikmets, Rando R

Publication Date: 2018-08

Variant appearance in text: ABCA4: 4539+2001G>A

PubMed Link: 29848554

Variant Present in the following documents:

• Main text
• MCS002733Zer.pdf

View BVdb publication page

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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: ABCA4: 4539+2001G>A

PubMed Link: 29526278

Variant Present in the following documents:

• Main text

View BVdb publication page

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Retinal phenotypic characterization of patients with ABCA4 retinopathydue to the homozygous p.Ala1773Val mutation.

Molecular Vision

López-Rubio, Salvador S; Chacon-Camacho, Oscar F OF; Matsui, Rodrigo R; Guadarrama-Vallejo, Dalia D; Astiazarán, Mirena C MC; Zenteno, Juan C JC

Publication Date: 2018

Variant appearance in text: STGD1: 4539+2001G>A

PubMed Link: 29422768

Variant Present in the following documents:

• Main text
• mv-v24-105.pdf

View BVdb publication page

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Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

European Journal Of Human Genetics : Ejhg

Haer-Wigman, Lonneke L; van Zelst-Stams, Wendy Ag WA; Pfundt, Rolph R; van den Born, L Ingeborgh LI; Klaver, Caroline Cw CC; Verheij, Joke Bgm JB; Hoyng, Carel B CB; Breuning, Martijn H MH; Boon, Camiel Jf CJ; Kievit, Anneke J AJ; Verhoeven, Virginie Jm VJ; Pott, Jan Wr JW; Sallevelt, Suzanne Ceh SC; van Hagen, Johanna M JM; Plomp, Astrid S AS; Kroes, Hester Y HY; Lelieveld, Stefan H SH; Hehir-Kwa, Jayne Y JY; Castelein, Steven S; Nelen, Marcel M; Scheffer, Hans H; Lugtenberg, Dorien D; Cremers, Frans Pm FP; Hoefsloot, Lies L; Yntema, Helger G HG

Publication Date: 2017-05

Variant appearance in text: ABCA4: 4539+2001G>A

PubMed Link: 28224992

Variant Present in the following documents:

• Main text
• ejhg20179x6.xlsx, sheet 1

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: STGD1: 4539+2001G>A

PubMed Link: 28118664

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

Ophthalmology

Ellingford, Jamie M JM; Barton, Stephanie S; Bhaskar, Sanjeev S; Williams, Simon G SG; Sergouniotis, Panagiotis I PI; O'Sullivan, James J; Lamb, Janine A JA; Perveen, Rahat R; Hall, Georgina G; Newman, William G WG; Bishop, Paul N PN; Roberts, Stephen A SA; Leach, Rick R; Tearle, Rick R; Bayliss, Stuart S; Ramsden, Simon C SC; Nemeth, Andrea H AH; Black, Graeme C M GC

Publication Date: 2016-05

Variant appearance in text: ABCA4: 4539+2001G>A

PubMed Link: 26872967

Variant Present in the following documents:

• mmc9.pdf

View BVdb publication page

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Analysis of the ABCA4 genomic locus in Stargardt disease.

Human Molecular Genetics

Zernant, Jana J; Xie, Yajing Angela YA; Ayuso, Carmen C; Riveiro-Alvarez, Rosa R; Lopez-Martinez, Miguel-Angel MA; Simonelli, Francesca F; Testa, Francesco F; Gorin, Michael B MB; Strom, Samuel P SP; Bertelsen, Mette M; Rosenberg, Thomas T; Boone, Philip M PM; Yuan, Bo B; Ayyagari, Radha R; Nagy, Peter L PL; Tsang, Stephen H SH; Gouras, Peter P; Collison, Frederick T FT; Lupski, James R JR; Fishman, Gerald A GA; Allikmets, Rando R

Publication Date: 2014-12-20

Variant appearance in text: ABCA4: 4539+2001G>A

PubMed Link: 25082829

Variant Present in the following documents:

• Main text

View BVdb publication page

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Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.

Human Molecular Genetics

Braun, Terry A TA; Mullins, Robert F RF; Wagner, Alex H AH; Andorf, Jeaneen L JL; Johnston, Rebecca M RM; Bakall, Benjamin B BB; Deluca, Adam P AP; Fishman, Gerald A GA; Lam, Byron L BL; Weleber, Richard G RG; Cideciyan, Artur V AV; Jacobson, Samuel G SG; Sheffield, Val C VC; Tucker, Budd A BA; Stone, Edwin M EM

Publication Date: 2013-12-20

Variant appearance in text: ABCA4: 4539+2001G>A

PubMed Link: 23918662

Variant Present in the following documents:

• Main text

View BVdb publication page

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