Publications:

---

The genetic landscape of inherited retinal dystrophies in Arabs.

Bmc Medical Genomics

Jaffal, Lama L; Joumaa, Hawraa H; Noureldine, Jinane J; Banjak, Malak M; Ibrahim, Mariam M; Mrad, Zamzam Z; Salami, Ali A; Shamieh, Said El SE

Publication Date: 2023-05-01

Variant appearance in text: ABCA4: 1140T>A

PubMed Link: 37127645

Variant Present in the following documents:

• 12920_2023_1518_MOESM2_ESM.xlsx, sheet 1

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: Asn380Lys

PubMed Link: 36460718

Variant Present in the following documents:

• 41598_2022_24636_MOESM2_ESM.xlsx, sheet 2
• 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: 1140T>A; Asn380Lys

PubMed Link: 36178783

Variant Present in the following documents:

• tvst-11-9-34_s002.pdf

View BVdb publication page

---

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: 1140T>A; Asn380Lys; rs61748549

PubMed Link: 35836572

Variant Present in the following documents:

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

View BVdb publication page

---

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: 1140T>A; Asn380Lys; rs61748549

PubMed Link: 35260635

Variant Present in the following documents:

• 41598_2022_7618_MOESM1_ESM.pdf

View BVdb publication page

---

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: 1140T>A

PubMed Link: 35156991

Variant Present in the following documents:

• Main text
• iovs-63-2-25.pdf

View BVdb publication page

---

The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Frontiers In Immunology

Punta, Marco M; Jennings, Victoria A VA; Melcher, Alan A AA; Lise, Stefano S

Publication Date: 2020

Variant appearance in text: ABCA4: N380K

PubMed Link: 33133066

Variant Present in the following documents:

• Table_1.xlsx, sheet 6

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: N380K

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6
• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 7

View BVdb publication page

---

Genetic spectrum of retinal dystrophies in Tunisia.

Scientific Reports

Habibi, Imen I; Falfoul, Yosra Y; Turki, Ahmed A; Hassairi, Asma A; El Matri, Khaled K; Chebil, Ahmed A; Schorderet, Daniel F DF; El Matri, Leila L

Publication Date: 2020-07-08

Variant appearance in text: ABCA4: N380K

PubMed Link: 32641690

Variant Present in the following documents:

• Main text
• 41598_2020_Article_67792.pdf

View BVdb publication page

---

Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results.

Orphanet Journal Of Rare Diseases

Cho, Ahra A; Lima de Carvalho, Jose Ronaldo JR; Tanaka, Akemi J AJ; Jauregui, Ruben R; Levi, Sarah R SR; Bassuk, Alexander G AG; Mahajan, Vinit B VB; Tsang, Stephen H SH

Publication Date: 2020-01-30

Variant appearance in text: STGD1: Asn380Lys

PubMed Link: 32000842

Variant Present in the following documents:

• Main text
• 13023_2020_Article_1312.pdf

View BVdb publication page

---

Exome sequencing in large, multiplex bipolar disorder families from Cuba.

Plos One

Maaser, Anna A; Forstner, Andreas J AJ; Strohmaier, Jana J; Hecker, Julian J; Ludwig, Kerstin U KU; Sivalingam, Sugirthan S; Streit, Fabian F; Degenhardt, Franziska F; Witt, Stephanie H SH; Reinbold, Céline S CS; Koller, Anna C AC; Raff, Ruth R; Heilmann-Heimbach, Stefanie S; Fischer, Sascha B SB; , ; Herms, Stefan S; Hoffmann, Per P; Thiele, Holger H; Nürnberg, Peter P; Löhlein Fier, Heide H; Orozco-Díaz, Guillermo G; Carmenate-Naranjo, Deinys D; Proenza-Barzaga, Niurka N; Auburger, Georg W J GWJ; Andlauer, Till F M TFM; Cichon, Sven S; Marcheco-Teruel, Beatriz B; Mors, Ole O; Rietschel, Marcella M; Nöthen, Markus M MM

Publication Date: 2018

Variant appearance in text: ABCA4: N380K; rs61748549

PubMed Link: 30379966

Variant Present in the following documents:

• Main text
• pone.0205895.pdf

View BVdb publication page

---

Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles.

Journal Of Ophthalmology

Smaragda, Kamakari K; Vassiliki, Kokkinou K; George, Koutsodontis K; Polixeni, Stamatiou S; Christoforos, Giatzakis G; Anastasios, Anastasakis A; Minas, Aslanides Ioannis AI; Stavrenia, Koukoula K; Theoni, Panagiotoglou P; Ioannis, Datseris D; Miltiadis, Tsilimbaris K TK

Publication Date: 2018

Variant appearance in text: STGD1: 1140T>A

PubMed Link: 29854428

Variant Present in the following documents:

• Main text
• JOPH2018-5706142.pdf

View BVdb publication page

---

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One

Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK

Publication Date: 2018

Variant appearance in text: ABCA4: 1140T>A; Asn380Lys; rs61748549

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 10

View BVdb publication page

---

Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.

Clinical Ophthalmology (Auckland, N.Z.)

Bryant, Laura L; Lozynska, Olga O; Maguire, Albert M AM; Aleman, Tomas S TS; Bennett, Jean J

Publication Date: 2018

Variant appearance in text: ABCA4: 1140T>A; Asn380Lys; rs61748549

PubMed Link: 29343940

Variant Present in the following documents:

• Main text
• opth-12-049.pdf

View BVdb publication page

---

Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: ABCA4: 1140T>A; rs61748549

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

---

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: 1140T>A; Asn380Lys

PubMed Link: 27208204

Variant Present in the following documents:

• jmedgenet-2016-103837supp_tables.pdf

View BVdb publication page

---

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: STGD1: N380K

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: ABCA4: N380K

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

---

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Genome Biology

,

Publication Date: 2015-06-26

Variant appearance in text: ABCA4: N380K; rs61748549

PubMed Link: 26112015

Variant Present in the following documents:

• 13059_2015_693_MOESM1_ESM.xls, sheet 1

View BVdb publication page

---

Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.

Orphanet Journal Of Rare Diseases

Boulanger-Scemama, Elise E; El Shamieh, Said S; Démontant, Vanessa V; Condroyer, Christel C; Antonio, Aline A; Michiels, Christelle C; Boyard, Fiona F; Saraiva, Jean-Paul JP; Letexier, Mélanie M; Souied, Eric E; Mohand-Saïd, Saddek S; Sahel, José-Alain JA; Zeitz, Christina C; Audo, Isabelle I

Publication Date: 2015-06-24

Variant appearance in text: ABCR: 1140T>A; rs61748549

PubMed Link: 26103963

Variant Present in the following documents:

View BVdb publication page

---

Splicing mutation analysis reveals previously unrecognized pathways in lymph node-invasive breast cancer.

Scientific Reports

Dorman, Stephanie N SN; Viner, Coby C; Rogan, Peter K PK

Publication Date: 2014-11-14

Variant appearance in text: ABCA4: N380K; rs61748549

PubMed Link: 25394353

Variant Present in the following documents:

• srep07063-s2.xls, sheet 2

View BVdb publication page

---

De novo mutations in moderate or severe intellectual disability.

Plos Genetics

Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL

Publication Date: 2014-10

Variant appearance in text: ABCA4: N380K

PubMed Link: 25356899

Variant Present in the following documents:

• pgen.1004772.s004.xlsx, sheet 6

View BVdb publication page

---

Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: ABCA4: N380K

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

View BVdb publication page

---

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

Plos One

Eisenberger, Tobias T; Neuhaus, Christine C; Khan, Arif O AO; Decker, Christian C; Preising, Markus N MN; Friedburg, Christoph C; Bieg, Anika A; Gliem, Martin M; Charbel Issa, Peter P; Holz, Frank G FG; Baig, Shahid M SM; Hellenbroich, Yorck Y; Galvez, Alberto A; Platzer, Konrad K; Wollnik, Bernd B; Laddach, Nadja N; Ghaffari, Saeed Reza SR; Rafati, Maryam M; Botzenhart, Elke E; Tinschert, Sigrid S; Börger, Doris D; Bohring, Axel A; Schreml, Julia J; Körtge-Jung, Stefani S; Schell-Apacik, Chayim C; Bakur, Khadijah K; Al-Aama, Jumana Y JY; Neuhann, Teresa T; Herkenrath, Peter P; Nürnberg, Gudrun G; Nürnberg, Peter P; Davis, John S JS; Gal, Andreas A; Bergmann, Carsten C; Lorenz, Birgit B; Bolz, Hanno J HJ

Publication Date: 2013

Variant appearance in text: ABCA4: 1140T>A; rs61748549

PubMed Link: 24265693

Variant Present in the following documents:

• Main text
• pone.0078496.pdf

View BVdb publication page

---

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: ABCA4: N380K; rs61748549

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

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: Asn380Lys

PubMed Link: 23755871

Variant Present in the following documents:

• Main text

View BVdb publication page

---

A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.

Nature Genetics

Beaty, Terri H TH; Murray, Jeffrey C JC; Marazita, Mary L ML; Munger, Ronald G RG; Ruczinski, Ingo I; Hetmanski, Jacqueline B JB; Liang, Kung Yee KY; Wu, Tao T; Murray, Tanda T; Fallin, M Daniele MD; Redett, Richard A RA; Raymond, Gerald G; Schwender, Holger H; Jin, Sheng-Chih SC; Cooper, Margaret E ME; Dunnwald, Martine M; Mansilla, Maria A MA; Leslie, Elizabeth E; Bullard, Stephen S; Lidral, Andrew C AC; Moreno, Lina M LM; Menezes, Renato R; Vieira, Alexandre R AR; Petrin, Aline A; Wilcox, Allen J AJ; Lie, Rolv T RT; Jabs, Ethylin W EW; Wu-Chou, Yah Huei YH; Chen, Philip K PK; Wang, Hong H; Ye, Xiaoqian X; Huang, Shangzhi S; Yeow, Vincent V; Chong, Samuel S SS; Jee, Sun Ha SH; Shi, Bing B; Christensen, Kaare K; Melbye, Mads M; Doheny, Kimberly F KF; Pugh, Elizabeth W EW; Ling, Hua H; Castilla, Eduardo E EE; Czeizel, Andrew E AE; Ma, Lian L; Field, L Leigh LL; Brody, Lawrence L; Pangilinan, Faith F; Mills, James L JL; Molloy, Anne M AM; Kirke, Peadar N PN; Scott, John M JM; Scott, James M JM; Arcos-Burgos, Mauricio M; Scott, Alan F AF

Publication Date: 2010-06

Variant appearance in text: ABCA4: N380K

PubMed Link: 20436469

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.

The British Journal Of Ophthalmology

Riveiro-Alvarez, R R; Aguirre-Lamban, J J; Lopez-Martinez, M Angel MA; Trujillo-Tiebas, M Jose MJ; Cantalapiedra, D D; Vallespin, E E; Avila-Fernandez, A A; Ramos, C C; Ayuso, C C

Publication Date: 2009-10

Variant appearance in text: ABCA4: 1140T>A

PubMed Link: 18977788

Variant Present in the following documents:

• Main text
• BJ1-93-10-1359.pdf

View BVdb publication page

---