Publications:

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Structural and Pathogenic Impacts of ABCA4 Variants in Retinal Degenerations-An In-Silico Study.

International Journal Of Molecular Sciences

Cevik, Senem S; Biswas, Subhasis B SB; Biswas-Fiss, Esther E EE

Publication Date: 2023-04-14

Variant appearance in text: ABCA4: S2255I

PubMed Link: 37108442

Variant Present in the following documents:

• Main text
• ijms-24-07280.pdf

View BVdb publication page

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: ABCA4: S2255I

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: ABCA4: 6764G>T; Ser2255Ile; rs6666652

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications

Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S

Publication Date: 2022-11

Variant appearance in text: ABCA4: S2255I; rs6666652

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

View BVdb publication page

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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: 6764G>T; Ser2255Ile

PubMed Link: 36264634

Variant Present in the following documents:

• jciinsight-7-162687-s246.pdf

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: ABCA4: S2255I

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2

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: 6764G>T; rs6666652

PubMed Link: 34807235

Variant Present in the following documents:

• Main text
• iovs-62-14-24.pdf

View BVdb publication page

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DALIA- a comprehensive resource of Disease Alleles in Arab population.

Plos One

Vatsyayan, Aastha A; Sharma, Parul P; Gupta, Shrey S; Sandhu, Sumiti S; Venu, Seetha Lakshmi SL; Sharma, Vandana V; Badaoui, Bouabid B; Azedine, Kaidi K; Youssef, Serti S; Rajab, Anna A; Fayez, Alaaeldin A; Madinur, Seema S; Ranawat, Anop A; Pandhare, Kavita K; Ramachandran, Srinivasan S; Sivasubbu, Sridhar S; Scaria, Vinod V

Publication Date: 2021

Variant appearance in text: ABCA4: 6764G>T; rs6666652

PubMed Link: 33439861

Variant Present in the following documents:

• pone.0244567.s011.xlsx, sheet 1

View BVdb publication page

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New Omics-Derived Perspectives on Retinal Dystrophies: Could Ion Channels-Encoding or Related Genes Act as Modifier of Pathological Phenotype?

International Journal Of Molecular Sciences

Donato, Luigi L; Scimone, Concetta C; Alibrandi, Simona S; Abdalla, Ebtesam Mohamed EM; Nabil, Karim Mahmoud KM; D'Angelo, Rosalia R; Sidoti, Antonina A

Publication Date: 2020-12-23

Variant appearance in text: rs6666652

PubMed Link: 33374679

Variant Present in the following documents:

• Main text
• ijms-22-00070.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: S2255I

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

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: 6764G>T; Ser2255Ile; rs6666652

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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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: 6764G>T

PubMed Link: 31618812

Variant Present in the following documents:

• Main text
• nutrients-11-02461.pdf

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: ABCA4: S2255I; rs6666652

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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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: ABCA4: 6764G>T; Ser2255Ile

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: ABCA4: S2255I; rs6666652

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9

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: rs6666652

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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A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies.

Scientific Reports

Ezquerra-Inchausti, Maitane M; Anasagasti, Ander A; Barandika, Olatz O; Garay-Aramburu, Gonzaga G; Galdós, Marta M; López de Munain, Adolfo A; Irigoyen, Cristina C; Ruiz-Ederra, Javier J

Publication Date: 2018-10-18

Variant appearance in text: rs6666652

PubMed Link: 30337596

Variant Present in the following documents:

• 41598_2018_33810_MOESM1_ESM.pdf

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: STGD1: 6764G>T

PubMed Link: 29925512

Variant Present in the following documents:

• bjophthalmol-2018-312064supp004.pdf

View BVdb publication page

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Correlation of Macular Focal Electroretinogram with Ellipsoid Zone Extension in Stargardt Disease.

Journal Of Ophthalmology

Abed, Edoardo E; Placidi, Giorgio G; Calandriello, Luigi L; Piccardi, Marco M; Campagna, Francesca F; Bertelli, Matteo M; Minnella, Angelo Maria AM; Savastano, Maria Cristina MC; Falsini, Benedetto B

Publication Date: 2017

Variant appearance in text: STGD1: Ser2255Ile

PubMed Link: 28912967

Variant Present in the following documents:

• Main text
• JOPH2017-3643495.pdf

View BVdb publication page

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The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Human Genetics

Monies, Dorota D; Abouelhoda, Mohamed M; AlSayed, Moeenaldeen M; Alhassnan, Zuhair Z; Alotaibi, Maha M; Kayyali, Husam H; Al-Owain, Mohammed M; Shah, Ayaz A; Rahbeeni, Zuhair Z; Al-Muhaizea, Mohammad A MA; Alzaidan, Hamad I HI; Cupler, Edward E; Bohlega, Saeed S; Faqeih, Eissa E; Faden, Maha M; Alyounes, Banan B; Jaroudi, Dyala D; Goljan, Ewa E; Elbardisy, Hadeel H; Akilan, Asma A; Albar, Renad R; Aldhalaan, Hesham H; Gulab, Shamshad S; Chedrawi, Aziza A; Al Saud, Bandar K BK; Kurdi, Wesam W; Makhseed, Nawal N; Alqasim, Tahani T; El Khashab, Heba Y HY; Al-Mousa, Hamoud H; Alhashem, Amal A; Kanaan, Imaduddin I; Algoufi, Talal T; Alsaleem, Khalid K; Basha, Talal A TA; Al-Murshedi, Fathiya F; Khan, Sameena S; Al-Kindy, Adila A; Alnemer, Maha M; Al-Hajjar, Sami S; Alyamani, Suad S; Aldhekri, Hasan H; Al-Mehaidib, Ali A; Arnaout, Rand R; Dabbagh, Omar O; Shagrani, Mohammad M; Broering, Dieter D; Tulbah, Maha M; Alqassmi, Amal A; Almugbel, Maisoon M; AlQuaiz, Mohammed M; Alsaman, Abdulaziz A; Al-Thihli, Khalid K; Sulaiman, Raashda A RA; Al-Dekhail, Wajeeh W; Alsaegh, Abeer A; Bashiri, Fahad A FA; Qari, Alya A; Alhomadi, Suzan S; Alkuraya, Hisham H; Alsebayel, Mohammed M; Hamad, Muddathir H MH; Szonyi, Laszlo L; Abaalkhail, Faisal F; Al-Mayouf, Sulaiman M SM; Almojalli, Hamad H; Alqadi, Khalid S KS; Elsiesy, Hussien H; Shuaib, Taghreed M TM; Seidahmed, Mohammed Zain MZ; Abosoudah, Ibraheem I; Akleh, Hana H; AlGhonaium, Abdulaziz A; Alkharfy, Turki M TM; Al Mutairi, Fuad F; Eyaid, Wafa W; Alshanbary, Abdullah A; Sheikh, Farrukh R FR; Alsohaibani, Fahad I FI; Alsonbul, Abdullah A; Al Tala, Saeed S; Balkhy, Soher S; Bassiouni, Randa R; Alenizi, Ahmed S AS; Hussein, Maged H MH; Hassan, Saeed S; Khalil, Mohamed M; Tabarki, Brahim B; Alshahwan, Saad S; Oshi, Amira A; Sabr, Yasser Y; Alsaadoun, Saad S; Salih, Mustafa A MA; Mohamed, Sarar S; Sultana, Habiba H; Tamim, Abdullah A; El-Haj, Moayad M; Alshahrani, Saif S; Bubshait, Dalal K DK; Alfadhel, Majid M; Faquih, Tariq T; El-Kalioby, Mohamed M; Subhani, Shazia S; Shah, Zeeshan Z; Moghrabi, Nabil N; Meyer, Brian F BF; Alkuraya, Fowzan S FS

Publication Date: 2017-08

Variant appearance in text: ABCA4: 6764G>T; S2255I

PubMed Link: 28600779

Variant Present in the following documents:

• 439_2017_1821_MOESM1_ESM.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: 6764G>T; Ser2255Ile

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: ABCA4: 6764G>T; S2255I

PubMed Link: 28118664

Variant Present in the following documents:

• Main text
• iovs-57-15-69_s04.pdf

View BVdb publication page

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Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

Scientific Reports

Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I

Publication Date: 2016-07-26

Variant appearance in text: ABCA4: S2255I; rs6666652

PubMed Link: 27456059

Variant Present in the following documents:

• srep30457-s2.xls, sheet 2
• srep30457-s2.xls, sheet 1

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: STGD1: Ser2255Ile

PubMed Link: 27014590

Variant Present in the following documents:

• Main text
• main.pdf
• mmc2.xlsx, sheet 1

View BVdb publication page

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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: S2255I; rs6666652

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.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: ABCA4: S2255I; rs6666652

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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Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.

Plos One

Yang, Liping L; Cui, Hui H; Yin, Xiaobei X; Dou, Hongliang H; Zhao, Lin L; Chen, Ningning N; Zhang, Jinlu J; Zhang, Huirong H; Li, Genlin G; Ma, Zhizhong Z

Publication Date: 2015

Variant appearance in text: ABCA4: 6764G>T; S2255I; rs6666652

PubMed Link: 26496393

Variant Present in the following documents:

• pone.0140684.s004.xlsx, sheet 5
• pone.0140684.s004.xlsx, sheet 4

View BVdb publication page

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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: S2255I

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Common synonymous variants in ABCA4 are protective for chloroquine induced maculopathy (toxic maculopathy).

Bmc Ophthalmology

Grassmann, Felix F; Bergholz, Richard R; Mändl, Julia J; Jägle, Herbert H; Ruether, Klaus K; Weber, Bernhard H F BH

Publication Date: 2015-03-06

Variant appearance in text: ABCA4: S2255I

PubMed Link: 25884411

Variant Present in the following documents:

• Main text
• 12886_2015_Article_8.pdf

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: ABCA4: S2255I; rs6666652

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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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: ABCA4: 6764G>T

PubMed Link: 25066811

Variant Present in the following documents:

• Main text
• humu0035-1187.pdf

View BVdb publication page

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exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels.

Genomics

Maranhao, B B; Biswas, P P; Duncan, J L JL; Branham, K E KE; Silva, G A GA; Naeem, M A MA; Khan, S N SN; Riazuddin, S S; Hejtmancik, J F JF; Heckenlively, J R JR; Riazuddin, S A SA; Lee, P L PL; Ayyagari, R R

Publication Date: 2014

Variant appearance in text: ABCA4: Ser2255Ile

PubMed Link: 24603341

Variant Present in the following documents:

• Main text

View BVdb publication page

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Next-generation genetic testing for retinitis pigmentosa.

Human Mutation

Neveling, Kornelia K; Collin, Rob W J RW; Gilissen, Christian C; van Huet, Ramon A C RA; Visser, Linda L; Kwint, Michael P MP; Gijsen, Sabine J SJ; Zonneveld, Marijke N MN; Wieskamp, Nienke N; de Ligt, Joep J; Siemiatkowska, Anna M AM; Hoefsloot, Lies H LH; Buckley, Michael F MF; Kellner, Ulrich U; Branham, Kari E KE; den Hollander, Anneke I AI; Hoischen, Alexander A; Hoyng, Carel C; Klevering, B Jeroen BJ; van den Born, L Ingeborgh LI; Veltman, Joris A JA; Cremers, Frans P M FP; Scheffer, Hans H

Publication Date: 2012-06

Variant appearance in text: ABCA4: S2255I

PubMed Link: 22334370

Variant Present in the following documents:

• humu0033-0963-sd1.pdf

View BVdb publication page

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Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases.

Orphanet Journal Of Rare Diseases

Audo, Isabelle I; Bujakowska, Kinga M KM; Léveillard, Thierry T; Mohand-Saïd, Saddek S; Lancelot, Marie-Elise ME; Germain, Aurore A; Antonio, Aline A; Michiels, Christelle C; Saraiva, Jean-Paul JP; Letexier, Mélanie M; Sahel, José-Alain JA; Bhattacharya, Shomi S SS; Zeitz, Christina C

Publication Date: 2012-01-25

Variant appearance in text: ABCA4: 6764G>T; S2255I

PubMed Link: 22277662

Variant Present in the following documents:

• Main text

View BVdb publication page

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ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis.

Molecular Vision

Maia-Lopes, Susana S; Aguirre-Lamban, Jana J; Castelo-Branco, Miguel M; Riveiro-Alvarez, Rosa R; Ayuso, Carmen C; Silva, Eduardo Duarte ED

Publication Date: 2009

Variant appearance in text: STGD: 6764G>T

PubMed Link: 19365591

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 6764G>T

PubMed Link: 18977788

Variant Present in the following documents:

• Main text
• BJ1-93-10-1359.pdf

View BVdb publication page

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