ABCA4 c.4537dup ;(p.Q1513Pfs*42)

Variant ID: 1-94495002-T-TG

NM_000350.2(ABCA4):c.4537dup;(p.Q1513Pfs*42)

This variant was identified in 25 publications

View GRCh38 version.




Publications:


Familial Whole Exome Sequencing Study of 30 Families With Early-Onset High Myopia.

Investigative Ophthalmology & Visual Science
Yang, Entuan E; Yu, Jifeng J; Liu, Xue X; Chu, Huihui H; Li, Li L
Publication Date: 2023-05-01

Variant appearance in text: ABCA4: 4537dupC
PubMed Link: 37191617
Variant Present in the following documents:
  • Main text
  • iovs-64-5-10_s001.pdf
  • iovs-64-5-10.pdf
View BVdb publication page



A generalizable machine learning framework for classifying DNA repair defects using ctDNA exomes.

Npj Precision Oncology
Ritch, Elie J EJ; Herberts, Cameron C; Warner, Evan W EW; Ng, Sarah W S SWS; Kwan, Edmond M EM; Bacon, Jack V W JVW; Bernales, Cecily Q CQ; Schönlau, Elena E; Fonseca, Nicolette M NM; Giri, Veda N VN; Maurice-Dror, Corinne C; Vandekerkhove, Gillian G; Jones, Steven J M SJM; Chi, Kim N KN; Wyatt, Alexander W AW
Publication Date: 2023-03-13

Variant appearance in text: N/A
PubMed Link: 36914848
Variant Present in the following documents:
View BVdb publication page



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: 4537dup; Gln1513Profs*42
PubMed Link: 36460718
Variant Present in the following documents:
  • 41598_2022_24636_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: 4537dup; Gln1513Profs*42
PubMed Link: 36178783
Variant Present in the following documents:
  • tvst-11-9-34_s002.pdf
View BVdb publication page



Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Nature Communications
Cong, Pei-Kuan PK; Bai, Wei-Yang WY; Li, Jin-Chen JC; Yang, Meng-Yuan MY; Khederzadeh, Saber S; Gai, Si-Rui SR; Li, Nan N; Liu, Yu-Heng YH; Yu, Shi-Hui SH; Zhao, Wei-Wei WW; Liu, Jun-Quan JQ; Sun, Yi Y; Zhu, Xiao-Wei XW; Zhao, Pian-Pian PP; Xia, Jiang-Wei JW; Guan, Peng-Lin PL; Qian, Yu Y; Tao, Jian-Guo JG; Xu, Lin L; Tian, Geng G; Wang, Ping-Yu PY; Xie, Shu-Yang SY; Qiu, Mo-Chang MC; Liu, Ke-Qi KQ; Tang, Bei-Sha BS; Zheng, Hou-Feng HF
Publication Date: 2022-05-26

Variant appearance in text: ABCA4: 4537dupC; Q1513Pfs*42
PubMed Link: 35618720
Variant Present in the following documents:
  • 41467_2022_30526_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Targeted next-generation sequencing identifies ABCA4 mutations in Chinese families with childhood-onset and adult-onset Stargardt disease.

Bioscience Reports
Qu, Ling-Hui LH; Jin, Xin X; Zeng, Chao C; Zhou, Nian-Gou NG; Liu, Yan-Hong YH; Lin, Ye Y
Publication Date: 2021-06-25

Variant appearance in text: ABCA4: 4537_4538insC
PubMed Link: 33988224
Variant Present in the following documents:
  • Main text
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: 4537dup; Q1513Pfs*42
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: 4537dupC; Q1513fs
PubMed Link: 32884132
Variant Present in the following documents:
  • NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: ABCA4: Q1513Pfs*42
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: ABCA4: 4537dupC; Gln1513fs
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



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: STGD: 4537dup
PubMed Link: 31766579
Variant Present in the following documents:
  • Main text
  • genes-10-00959.pdf
View BVdb publication page



Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.

Plos One
Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD
Publication Date: 2019

Variant appearance in text: ABCA4: 4537_4538insC; Gln1513fs
PubMed Link: 30608972
Variant Present in the following documents:
  • pone.0210079.s007.xlsx, sheet 22
  • pone.0210079.s007.xlsx, sheet 21
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: STGD1: 4537_4538insC
PubMed Link: 29925512
Variant Present in the following documents:
  • bjophthalmol-2018-312064supp004.pdf
View BVdb publication page



Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell
Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD
Publication Date: 2018-05-14

Variant appearance in text: N/A
PubMed Link: 29657128
Variant Present in the following documents:
View BVdb publication page



Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.

Scientific Reports
Birtel, Johannes J; Eisenberger, Tobias T; Gliem, Martin M; Müller, Philipp L PL; Herrmann, Philipp P; Betz, Christian C; Zahnleiter, Diana D; Neuhaus, Christine C; Lenzner, Steffen S; Holz, Frank G FG; Mangold, Elisabeth E; Bolz, Hanno J HJ; Charbel Issa, Peter P
Publication Date: 2018-03-19

Variant appearance in text: ABCA4: 4537dup
PubMed Link: 29555955
Variant Present in the following documents:
  • 41598_2018_22096_MOESM1_ESM.pdf
View BVdb publication page



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: 4537dup; Gln1513fs
PubMed Link: 28224992
Variant Present in the following documents:
  • ejhg20179x6.xlsx, sheet 1
View BVdb publication page



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: 4537dupC
PubMed Link: 26872967
Variant Present in the following documents:
  • mmc8.pdf
View BVdb publication page



Role of TP53 mutations in the origin and evolution of therapy-related acute myeloid leukaemia.

Nature
Wong, Terrence N TN; Ramsingh, Giridharan G; Young, Andrew L AL; Miller, Christopher A CA; Touma, Waseem W; Welch, John S JS; Lamprecht, Tamara L TL; Shen, Dong D; Hundal, Jasreet J; Fulton, Robert S RS; Heath, Sharon S; Baty, Jack D JD; Klco, Jeffery M JM; Ding, Li L; Mardis, Elaine R ER; Westervelt, Peter P; DiPersio, John F JF; Walter, Matthew J MJ; Graubert, Timothy A TA; Ley, Timothy J TJ; Druley, Todd T; Link, Daniel C DC; Wilson, Richard K RK
Publication Date: 2015-02-26

Variant appearance in text: N/A
PubMed Link: 25487151
Variant Present in the following documents:
View BVdb publication page



Macular function and morphologic features in juvenile stargardt disease: longitudinal study.

Ophthalmology
Testa, Francesco F; Melillo, Paolo P; Di Iorio, Valentina V; Orrico, Ada A; Attanasio, Marcella M; Rossi, Settimio S; Simonelli, Francesca F
Publication Date: 2014-12

Variant appearance in text: ABCA4: Q1513PfsX42
PubMed Link: 25097154
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic and clinical analysis of ABCA4-associated disease in African American patients.

Human Mutation
Zernant, Jana J; Collison, Frederick T FT; Lee, Winston W; Fishman, Gerald A GA; Noupuu, Kalev K; Yuan, Bo B; Cai, Carolyn C; Lupski, James R JR; Yannuzzi, Lawrence A LA; Tsang, Stephen H SH; Allikmets, Rando R
Publication Date: 2014-10

Variant appearance in text: STGD1: 4537dup
PubMed Link: 25066811
Variant Present in the following documents:
  • Main text
  • humu0035-1187.pdf
View BVdb publication page



Inner and outer retinal changes in retinal degenerations associated with ABCA4 mutations.

Investigative Ophthalmology & Visual Science
Huang, Wei Chieh WC; Cideciyan, Artur V AV; Roman, Alejandro J AJ; Sumaroka, Alexander A; Sheplock, Rebecca R; Schwartz, Sharon B SB; Stone, Edwin M EM; Jacobson, Samuel G SG
Publication Date: 2014-03-20

Variant appearance in text: ABCA4: 4530_4531insC
PubMed Link: 24550365
Variant Present in the following documents:
  • Main text
View BVdb publication page



Distinct characteristics of inferonasal fundus autofluorescence patterns in stargardt disease and retinitis pigmentosa.

Investigative Ophthalmology & Visual Science
Duncker, Tobias T; Lee, Winston W; Tsang, Stephen H SH; Greenberg, Jonathan P JP; Zernant, Jana J; Allikmets, Rando R; Sparrow, Janet R JR
Publication Date: 2013-10-17

Variant appearance in text: STGD1: 4537_4538insC
PubMed Link: 24071957
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: 4537_4538insC; Q1513fs
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: 4537_4538insC
PubMed Link: 23755871
Variant Present in the following documents:
  • Main text
View BVdb publication page



Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.

European Journal Of Human Genetics : Ejhg
Shanks, Morag E ME; Downes, Susan M SM; Copley, Richard R RR; Lise, Stefano S; Broxholme, John J; Hudspith, Karl Az KA; Kwasniewska, Alexandra A; Davies, Wayne Il WI; Hankins, Mark W MW; Packham, Emily R ER; Clouston, Penny P; Seller, Anneke A; Wilkie, Andrew Om AO; Taylor, Jenny C JC; Ragoussis, Jiannis J; Németh, Andrea H AH
Publication Date: 2013-03

Variant appearance in text: ABCA4: 4537dupC
PubMed Link: 22968130
Variant Present in the following documents:
  • Main text
View BVdb publication page