Publications:

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A pathogenic in-frame deletion-insertion variant in BEST1 phenocopies Stargardt disease.

Jci Insight

Kolesnikova, Masha M; Oh, Jin Kyun JK; Wang, Jiali J; Lee, Winston W; Zernant, Jana J; Su, Pei-Yin PY; Kim, Angela H AH; Jenny, Laura A LA; Yang, Tingting T; Allikmets, Rando R; Tsang, Stephen H SH

Publication Date: 2022-12-08

Variant appearance in text: ABCA4: 6282+7G>A

PubMed Link: 36264634

Variant Present in the following documents:

• jciinsight-7-162687-s246.pdf

View BVdb publication page

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Perifoveal Cone- and Rod-Mediated Temporal Contrast Sensitivities in Stargardt Disease/Fundus Flavimaculatus.

Investigative Ophthalmology & Visual Science

Fars, Julien J; Pasutto, Francesca F; Kremers, Jan J; Huchzermeyer, Cord C

Publication Date: 2021-11-01

Variant appearance in text: STGD1: 6282+7G>A; rs17110761

PubMed Link: 34807235

Variant Present in the following documents:

• Main text
• iovs-62-14-24.pdf

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs17110761

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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The impact of the c.5603A>T hypomorphic variant on founder mutation screening of ABCA4 for Stargardt disease in South Africa.

Molecular Vision

Midgley, Nicole N; Roberts, Lisa L; Rebello, George G; Ramesar, Raj R

Publication Date: 2020

Variant appearance in text: ABCA4: 6282+7G>A

PubMed Link: 32913387

Variant Present in the following documents:

• Main text
• mv-v26-613.pdf

View BVdb publication page

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A very early diagnosis of Alstrӧm syndrome by next generation sequencing.

Bmc Medical Genetics

Gatticchi, Leonardo L; Miertus, Jan J; Maltese, Paolo Enrico PE; Bressan, Simone S; De Antoni, Luca L; Podracká, Ludmila L; Piteková, Lucia L; Rísová, Vanda V; Mällo, Mari M; Jaakson, Kaie K; Joost, Kairit K; Colombo, Leonardo L; Bertelli, Matteo M

Publication Date: 2020-09-01

Variant appearance in text: ABCA4: 6282+7G>A

PubMed Link: 32867697

Variant Present in the following documents:

• 12881_2020_1110_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: ABCA4: 6282+7G>A; rs17110761

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: rs17110761

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: ABCA4: 6282+7G>A; rs17110761

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

View BVdb publication page

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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: 6282+7G>A

PubMed Link: 29925512

Variant Present in the following documents:

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

View BVdb publication page

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Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.

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

Van Schil, Kristof K; Naessens, Sarah S; Van de Sompele, Stijn S; Carron, Marjolein M; Aslanidis, Alexander A; Van Cauwenbergh, Caroline C; Kathrin Mayer, Anja A; Van Heetvelde, Mattias M; Bauwens, Miriam M; Verdin, Hannah H; Coppieters, Frauke F; Greenberg, Michael E ME; Yang, Marty G MG; Karlstetter, Marcus M; Langmann, Thomas T; De Preter, Katleen K; Kohl, Susanne S; Cherry, Timothy J TJ; Leroy, Bart P BP; , ; De Baere, Elfride E

Publication Date: 2018-02

Variant appearance in text: ABCA4: 6282+7G>A

PubMed Link: 28749477

Variant Present in the following documents:

• gim201797x2.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: ABCA4: 6282+7G>A

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Revisiting the morbid genome of Mendelian disorders.

Genome Biology

Abouelhoda, Mohamed M; Faquih, Tariq T; El-Kalioby, Mohamed M; Alkuraya, Fowzan S FS

Publication Date: 2016-11-24

Variant appearance in text: ABCA4: 6282+7G>A

PubMed Link: 27884173

Variant Present in the following documents:

• 13059_2016_1102_MOESM5_ESM.pdf
• 13059_2016_1102_MOESM1_ESM.pdf

View BVdb publication page

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Genomic screening of ABCA4 and array CGH analysis underline the genetic variability of Greek patients with inherited retinal diseases.

Meta Gene

Tsipi, Maria M; Tzetis, Maria M; Kosma, Konstantina K; Moschos, Marilita M; Braoudaki, Maria M; Poulou, Myrto M; Kanavakis, Emmanuel E; Kitsiou-Tzeli, Sofia S

Publication Date: 2016-06

Variant appearance in text: rs17110761

PubMed Link: 27014590

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs17110761

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2

View BVdb publication page

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Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening.

Investigative Ophthalmology & Visual Science

Singh, Hardeep Pal HP; Jalali, Subhadra S; Narayanan, Raja R; Kannabiran, Chitra C

Publication Date: 2009-09

Variant appearance in text: rs17110761

PubMed Link: 19339744

Variant Present in the following documents:

• Main text

View BVdb publication page

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