Publications:

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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: ABCC6: R1268Q

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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Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-25

Variant appearance in text: ABCC6: R1268Q; rs2238472

PubMed Link: 36966136

Variant Present in the following documents:

• 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs2238472

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals.

Human Mutation

Szeri, Flora F; Miko, Agnes A; Navasiolava, Nastassia N; Kaposi, Ambrus A; Verschuere, Shana S; Molnar, Beatrix B; Li, Qiaoli Q; Terry, Sharon F SF; Boraldi, Federica F; Uitto, Jouni J; van de Wetering, Koen K; Martin, Ludovic L; Quaglino, Daniela D; Vanakker, Olivier M OM; Tory, Kalman K; Aranyi, Tamas T

Publication Date: 2022-11-01

Variant appearance in text: ABCC6: 3803G>A

PubMed Link: 36317459

Variant Present in the following documents:

• Main text
• HUMU-43-1872.pdf
• HUMU-43-1872-s002.xlsx, sheet 2
• HUMU-43-1872-s002.xlsx, sheet 1

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: rs2238472

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2

View BVdb publication page

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Integrated longitudinal analysis of adult grade 4 diffuse gliomas with long-term relapse interval revealed upregulation of TGF-β signaling in recurrent tumors.

Neuro-Oncology

Kashani, Elham E; Schnidrig, Désirée D; Hashemi Gheinani, Ali A; Ninck, Martina Selina MS; Zens, Philipp P; Maragkou, Theoni T; Baumgartner, Ulrich U; Schucht, Philippe P; Rätsch, Gunnar G; Rubin, Mark A MA; Berezowska, Sabina S; Ng, Charlotte K Y CKY; Vassella, Erik E; ,

Publication Date: 2022-09-17

Variant appearance in text: ABCC6: 3803G>A; Arg1268Gln; rs2238472

PubMed Link: 36124685

Variant Present in the following documents:

• noac220_suppl_supplementary_table_s3.xlsx, sheet 1

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs2238472

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: ABCC6: R1268Q; rs2238472

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries.

Circulation Research

Škorić-Milosavljević, Doris D; Tadros, Rafik R; Bosada, Fernanda M FM; Tessadori, Federico F; van Weerd, Jan Hendrik JH; Woudstra, Odilia I OI; Tjong, Fleur V Y FVY; Lahrouchi, Najim N; Bajolle, Fanny F; Cordell, Heather J HJ; Agopian, A J AJ; Blue, Gillian M GM; Barge-Schaapveld, Daniela Q C M DQCM; Gewillig, Marc M; Preuss, Christoph C; Lodder, Elisabeth M EM; Barnett, Phil P; Ilgun, Aho A; Beekman, Leander L; van Duijvenboden, Karel K; Bokenkamp, Regina R; Müller-Nurasyid, Martina M; , ; Vliegen, Hubert W HW; Konings, Thelma C TC; van Melle, Joost P JP; van Dijk, Arie P J APJ; van Kimmenade, Roland R J RRJ; Roos-Hesselink, Jolien W JW; Sieswerda, Gertjan T GT; Meijboom, Folkert F; Abdul-Khaliq, Hashim H; Berger, Felix F; Dittrich, Sven S; Hitz, Marc-Phillip MP; Moosmann, Julia J; Riede, Frank-Thomas FT; Schubert, Stephan S; Galan, Pilar P; Lathrop, Mark M; Munter, Hans M HM; Al-Chalabi, Ammar A; Shaw, Christopher E CE; Shaw, Pamela J PJ; Morrison, Karen E KE; Veldink, Jan H JH; van den Berg, Leonard H LH; Evans, Sylvia S; Nobrega, Marcelo A MA; Aneas, Ivy I; Radivojkov-Blagojević, Milena M; Meitinger, Thomas T; Oechslin, Erwin E; Mondal, Tapas T; Bergin, Lynn L; Smythe, John F JF; Altamirano-Diaz, Luis L; Lougheed, Jane J; Bouma, Berto J BJ; Chaix, Marie-A MA; Kline, Jennie J; Bassett, Anne S AS; Andelfinger, Gregor G; van der Palen, Roel L F RLF; Bouvagnet, Patrice P; Clur, Sally-Ann B SB; Breckpot, Jeroen J; Kerstjens-Frederikse, Wilhelmina S WS; Winlaw, David S DS; Bauer, Ulrike M M UMM; Mital, Seema S; Goldmuntz, Elizabeth E; Keavney, Bernard B; Bonnet, Damien D; Mulder, Barbara J BJ; Tanck, Michael W T MWT; Bakkers, Jeroen J; Christoffels, Vincent M VM; Boogerd, Cornelis J CJ; Postma, Alex V AV; Bezzina, Connie R CR

Publication Date: 2022-01-21

Variant appearance in text: ABCC6: R1268Q; rs2238472

PubMed Link: 34886679

Variant Present in the following documents:

• res-130-166-s003.pdf

View BVdb publication page

---

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries.

Circulation Research

Skoric-Milosavljevic, Doris D; Tadros, Rafik R; Bosada, Fernanda M FM; Tessadori, Federico F; van Weerd, Jan Hendrik JH; Woudstra, Odilia Ilse OI; Tjong, Fleur V Y FVY; Lahrouchi, Najim N; Bajolle, Fanny F; Cordell, Heather J HJ; Agopian, A J AJ; Blue, Gillian M GM; Barge-Schaapveld, Daniela Qcm DQ; Gewillig, Marc H MH; Preuss, Christoph C; Lodder, Elisabeth M EM; Barnett, Phil P; Ilgun, Aho A; Beekman, Leander L; van Duijvenboden, Karel K; Bokenkamp, Regina R; Müller-Nurasyid, Martina M; Vliegen, Hubert W HW; Konings, Thelma C TC; van Melle, Joost P JP; van Dijk, Arie A; van Kimmenade, Roland Rj RR; Roos-Hesselink, Jolien W JW; Sieswerda, Gertjan G; Meijboom, Folkert F; Abdul-Khaliq, Hashim H; Berger, Felix F; Dittrich, Sven S; Hitz, Marc-Phillip MP; Moosmann, Julia J; Riede, Frank-Thomas FT; Schubert, Stephan S; Galan, Pilar P; Lathrop, G Mark GM; Munter, Hans Markus HM; Al-Chalabi, Ammar A; Shaw, Christopher E CE; Shaw, Pamela J PJ; Morrison, Karen E KE; Veldink, Jan H JH; van den Berg, Leonard H LH; Evans, Sylvia M SM; Nobrega, Marcelo A MA; Aneas, Ivy I; Radivojkov-Blagojevic, Milena M; Meitinger, Thomas T; Oechslin, Erwin E; Mondal, Tapas T; Bergin, M Lynn ML; Smythe, John F JF; Altamirano-Diaz, Luis L; Lougheed, Jane J; Bouma, Berto J BJ; Chaix, Marie A MA; Kline, Jennie J; Bassett, Anne Susan AS; Andelfinger, Gregor G; van der Palen, Roel Lf RL; Bouvagnet, Patrice P; Clur, Sally-Ann B SB; Breckpot, Jeroen J; Kerstjens-Frederikse, Wilhelmina S WS; Winlaw, David S DS; Bauer, Ulrike U; Mital, Seema S; Goldmuntz, Elizabeth E; Keavney, Bernard D BD; Bonnet, Damien D; Mulder, Barbara J BJ; Tanck, Michael M; Bakkers, Jeroen J; Christoffels, Vincent M VM; Boogerd, Cornelis J CJ; Postma, Alex V AV; Bezzina, Connie R CR

Publication Date: 2021-12-10

Variant appearance in text: ABCC6: R1268Q; rs2238472

PubMed Link: 34886679

Variant Present in the following documents:

• res-130-166-s003.pdf

View BVdb publication page

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Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Translational And Clinical Pharmacology

Kim, Byungwook B; Yoon, Deok Yong DY; Lee, SeungHwan S; Jang, In-Jin IJ; Yu, Kyung-Sang KS; Cho, Joo-Youn JY; Oh, Jaeseong J

Publication Date: 2021-09

Variant appearance in text: ABCC6: 3803G>A; R1268Q; rs2238472

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, sheet 1

View BVdb publication page

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Angioid Streaks in Pseudoxanthoma Elasticum.

Cureus

Mandura, Rahaf A RA; Radi, Rwan E RE

Publication Date: 2021-06

Variant appearance in text: PXE: R1268Q

PubMed Link: 34277296

Variant Present in the following documents:

• Main text
• cureus-0013-00000015720.pdf

View BVdb publication page

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Phenotypic Features and Genetic Findings in a Cohort of Italian Pseudoxanthoma Elasticum Patients and Update of the Ophthalmologic Evaluation Score.

Journal Of Clinical Medicine

Boraldi, Federica F; Murro, Vittoria V; Lofaro, Francesco Demetrio FD; Mucciolo, Dario Pasquale DP; Costa, Sonia S; Pavese, Laura L; Quaglino, Daniela D

Publication Date: 2021-06-19

Variant appearance in text: ABCC6: 3803G>A

PubMed Link: 34205333

Variant Present in the following documents:

• Main text
• jcm-10-02710.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: ABCC6: R1268Q; rs2238472

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: ABCC6: 3803G>A; R1268Q; rs2238472

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 3
• pone.0249324.s003.xlsx, sheet 1
• pone.0249324.s003.xlsx, sheet 2

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: ABCC6: R1268Q; rs2238472

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 4
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Atherogenic Diet Accelerates Ectopic Mineralization in a Mouse Model of Pseudoxanthoma Elasticum.

International Journal Of Dermatology And Venereology

Zhao, Jing-Yi JY; Kingman, Joshua J; Jacobs, Ida Joely IJ; Uitto, Jouni J; Cao, Yi Y; Li, Qiao-Li QL

Publication Date: 2020-06

Variant appearance in text: ABCC6: R1268Q; rs2238472

PubMed Link: 32923017

Variant Present in the following documents:

• Main text
• ijdv-3-091.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: ABCC6: 3803G>A; Arg1268Gln

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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Population Pharmacokinetic and Pharmacogenetic Analysis of Mitotane in Patients with Adrenocortical Carcinoma: Towards Individualized Dosing.

Clinical Pharmacokinetics

Yin, Anyue A; Ettaieb, Madeleine H T MHT; Swen, Jesse J JJ; van Deun, Liselotte L; Kerkhofs, Thomas M A TMA; van der Straaten, Robert J H M RJHM; Corssmit, Eleonora P M EPM; Gelderblom, Hans H; Kerstens, Michiel N MN; Feelders, Richard A RA; Eekhoff, Marelise M; Timmers, Henri J L M HJLM; D'Avolio, Antonio A; Cusato, Jessica J; Guchelaar, Henk-Jan HJ; Haak, Harm R HR; Moes, Dirk Jan A R DJAR

Publication Date: 2021-01

Variant appearance in text: ABCC6: 3803G>A; R1268Q; rs2238472

PubMed Link: 32607875

Variant Present in the following documents:

• 40262_2020_913_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs2238472

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications

Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B

Publication Date: 2020-04-09

Variant appearance in text: ABCC6: R1268Q

PubMed Link: 32273506

Variant Present in the following documents:

• 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Ethnogeographic and inter-individual variability of human ABC transporters.

Human Genetics

Xiao, Qingyang Q; Zhou, Yitian Y; Lauschke, Volker M VM

Publication Date: 2020-05

Variant appearance in text: ABCC6: R1268Q; rs2238472

PubMed Link: 32206879

Variant Present in the following documents:

• Main text
• 439_2020_Article_2150.pdf

View BVdb publication page

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Rare Co-occurrence of Beta-Thalassemia and Pseudoxanthoma elasticum: Novel Biomolecular Findings.

Frontiers In Medicine

Boraldi, Federica F; Lofaro, Francesco Demetrio FD; Costa, Sonia S; Moscarelli, Pasquale P; Quaglino, Daniela D

Publication Date: 2019

Variant appearance in text: ABCC6: 3803G>A; rs2238472

PubMed Link: 32039214

Variant Present in the following documents:

• Main text
• fmed-06-00322.pdf

View BVdb publication page

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YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications

Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T

Publication Date: 2020-01-03

Variant appearance in text: ABCC6: R1268Q

PubMed Link: 31900393

Variant Present in the following documents:

• 41467_2019_13771_MOESM5_ESM.xlsx, 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: ABCC6: 3803G>A; Arg1268Gln; rs2238472

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
• 13059_2019_1838_MOESM5_ESM.xlsx, sheet 1
• 13059_2019_1838_MOESM4_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: ABCC6: R1268Q; rs2238472

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Pharmacogenomic Biomarkers in Docetaxel Treatment of Prostate Cancer: From Discovery to Implementation.

Genes

Varnai, Reka R; Koskinen, Leena M LM; Mäntylä, Laura E LE; Szabo, Istvan I; FitzGerald, Liesel M LM; Sipeky, Csilla C

Publication Date: 2019-08-08

Variant appearance in text: rs2238472

PubMed Link: 31398933

Variant Present in the following documents:

• Main text
• genes-10-00599.pdf

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: ABCC6: R1268Q; rs2238472

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11

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: rs2238472

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: ABCC6: R1268Q

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.xlsx, sheet 1

View BVdb publication page

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ATP-Binding Cassette Transporters in the Clinical Implementation of Pharmacogenetics.

Journal Of Personalized Medicine

López-Fernández, Luis A LA

Publication Date: 2018-12-05

Variant appearance in text: ABCC6: 3803G>A; Arg1268Gln; rs2238472

PubMed Link: 30563187

Variant Present in the following documents:

• jpm-08-00040-s001.xlsx, sheet 1

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: ABCC6: R1268Q; rs2238472

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports

Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN

Publication Date: 2018-11-02

Variant appearance in text: ABCC6: R1268Q; rs2238472

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.

Scientific Reports

Tang, Dave D; Fakiola, Michaela M; Syn, Genevieve G; Anderson, Denise D; Cordell, Heather J HJ; Scaman, Elizabeth S H ESH; Davis, Elizabeth E; Miles, Simon J SJ; McLeay, Toby T; Jamieson, Sarra E SE; Lassmann, Timo T; Blackwell, Jenefer M JM

Publication Date: 2018-07-19

Variant appearance in text: ABCC6: 3803G>A; Arg1268Gln; rs2238472

PubMed Link: 30026549

Variant Present in the following documents:

• 41598_2018_29279_MOESM1_ESM.pdf

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: ABCC6: 3803G>A; Arg1268Gln

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Pseudoxanthoma elasticum.

Orphanet Journal Of Rare Diseases

Germain, Dominique P DP

Publication Date: 2017-05-10

Variant appearance in text: ABCC6: Arg1268Gln

PubMed Link: 28486967

Variant Present in the following documents:

• Main text
• 13023_2017_Article_639.pdf

View BVdb publication page

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Conditionally reprogrammed normal and primary tumor prostate epithelial cells: a novel patient-derived cell model for studies of human prostate cancer.

Oncotarget

Timofeeva, Olga A OA; Palechor-Ceron, Nancy N; Li, Guanglei G; Yuan, Hang H; Krawczyk, Ewa E; Zhong, Xiaogang X; Liu, Geng G; Upadhyay, Geeta G; Dakic, Aleksandra A; Yu, Songtao S; Fang, Shuang S; Choudhury, Sujata S; Zhang, Xueping X; Ju, Andrew A; Lee, Myeong-Seon MS; Dan, Han C HC; Ji, Youngmi Y; Hou, Yong Y; Zheng, Yun-Ling YL; Albanese, Chris C; Rhim, Johng J; Schlegel, Richard R; Dritschilo, Anatoly A; Liu, Xuefeng X

Publication Date: 2017-04-04

Variant appearance in text: ABCC6: R1268Q; rs2238472

PubMed Link: 28009986

Variant Present in the following documents:

• oncotarget-08-22741-s003.xlsx, sheet 1

View BVdb publication page

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: ABCC6: R1268Q

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1

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: ABCC6: R1268Q; rs2238472

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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DMET™ (Drug Metabolism Enzymes and Transporters): a pharmacogenomic platform for precision medicine.

Oncotarget

Arbitrio, Mariamena M; Di Martino, Maria Teresa MT; Scionti, Francesca F; Agapito, Giuseppe G; Guzzi, Pietro Hiram PH; Cannataro, Mario M; Tassone, Pierfrancesco P; Tagliaferri, Pierosandro P

Publication Date: 2016-08-16

Variant appearance in text: rs2238472

PubMed Link: 27304055

Variant Present in the following documents:

• Main text
• oncotarget-07-54028.pdf

View BVdb publication page

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The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Oncotarget

Lim, Chul-Hyun CH; Cho, Yu Kyung YK; Kim, Sang Woo SW; Choi, Myung-Gyu MG; Rhee, Je-Keun JK; Chung, Yeun-Jun YJ; Lee, Sug-Hyung SH; Kim, Tae-Min TM

Publication Date: 2016-06-28

Variant appearance in text: ABCC6: R1268Q

PubMed Link: 27175599

Variant Present in the following documents:

• oncotarget-07-39758-s006.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: PXE: R1268Q; rs2238472

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: ABCC6: R1268Q; rs2238472

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: ABCC6: 3803G>A; R1268Q; rs2238472

PubMed Link: 26496393

Variant Present in the following documents:

• pone.0140684.s004.xlsx, sheet 2
• pone.0140684.s004.xlsx, sheet 1
• pone.0140684.s004.xlsx, sheet 5
• pone.0140684.s004.xlsx, sheet 4

View BVdb publication page

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