Publications:

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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: FAM24B: P2L; rs1891110

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

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: rs1891110

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: FAM24B: P2L; rs1891110

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.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: rs1891110

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

View BVdb publication page

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Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A

Publication Date: 2022-08-15

Variant appearance in text: FAM24B: P2L; rs1891110

PubMed Link: 35653148

Variant Present in the following documents:

• ccr-21-3189_supplementary_tables_ts1-9_suppts1-9.xlsx, sheet 5

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021

Variant appearance in text: FAM24B: P2L; rs1891110

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 11
• mmc2.xlsx, sheet 3

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021-10-19

Variant appearance in text: FAM24B: P2L; rs1891110

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 11

View BVdb publication page

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Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: FAM24B: 5C>T; Pro2Leu; rs1891110

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

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: FAM24B: P2L; rs1891110

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: FAM24B: 5C>T; P2L; rs1891110

PubMed Link: 33770142

Variant Present in the following documents:

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

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: FAM24B: P2L; rs1891110

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, 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: rs1891110

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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Association of Monogenic vs Polygenic Hypercholesterolemia With Risk of Atherosclerotic Cardiovascular Disease.

Jama Cardiology

Trinder, Mark M; Francis, Gordon A GA; Brunham, Liam R LR

Publication Date: 2020-04-01

Variant appearance in text: rs1891110

PubMed Link: 32049305

Variant Present in the following documents:

• jamacardiol-5-390-s001.pdf

View BVdb publication page

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Causal Inference for Genetically Determined Levels of High-Density Lipoprotein Cholesterol and Risk of Infectious Disease.

Arteriosclerosis, Thrombosis, And Vascular Biology

Trinder, Mark M; Walley, Keith R KR; Boyd, John H JH; Brunham, Liam R LR

Publication Date: 2020-01

Variant appearance in text: rs1891110

PubMed Link: 31694394

Variant Present in the following documents:

• atv-40-267-s002.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: FAM24B: P2L; rs1891110

PubMed Link: 31597922

Variant Present in the following documents:

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

View BVdb publication page

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The transferability of lipid loci across African, Asian and European cohorts.

Nature Communications

Kuchenbaecker, Karoline K; Telkar, Nikita N; Reiker, Theresa T; Walters, Robin G RG; Lin, Kuang K; Eriksson, Anders A; Gurdasani, Deepti D; Gilly, Arthur A; Southam, Lorraine L; Tsafantakis, Emmanouil E; Karaleftheri, Maria M; Seeley, Janet J; Kamali, Anatoli A; Asiki, Gershim G; Millwood, Iona Y IY; Holmes, Michael M; Du, Huaidong H; Guo, Yu Y; Kumari, Meena M; Dedoussis, George G; Li, Liming L; Chen, Zhengming Z; Sandhu, Manjinder S MS; Zeggini, Eleftheria E; ,

Publication Date: 2019-09-24

Variant appearance in text: rs1891110

PubMed Link: 31551420

Variant Present in the following documents:

• 41467_2019_12026_MOESM1_ESM.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: FAM24B: P2L; rs1891110

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2

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: FAM24B: 5C>T; rs1891110

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: FAM24B: 5C>T; Pro2Leu; rs1891110

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

View BVdb publication page

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Uncovering the complex genetics of human character.

Molecular Psychiatry

Zwir, Igor I; Arnedo, Javier J; Del-Val, Coral C; Pulkki-Råback, Laura L; Konte, Bettina B; Yang, Sarah S SS; Romero-Zaliz, Rocio R; Hintsanen, Mirka M; Cloninger, Kevin M KM; Garcia, Danilo D; Svrakic, Dragan M DM; Rozsa, Sandor S; Martinez, Maribel M; Lyytikäinen, Leo-Pekka LP; Giegling, Ina I; Kähönen, Mika M; Hernandez-Cuervo, Helena H; Seppälä, Ilkka I; Raitoharju, Emma E; de Erausquin, Gabriel A GA; Raitakari, Olli O; Rujescu, Dan D; Postolache, Teodor T TT; Sung, Joohon J; Keltikangas-Järvinen, Liisa L; Lehtimäki, Terho T; Cloninger, C Robert CR

Publication Date: 2020-10

Variant appearance in text: FAM24B: 5C>T; Pro2Leu; rs1891110

PubMed Link: 30283034

Variant Present in the following documents:

• 41380_2018_263_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Uncovering the complex genetics of human temperament.

Molecular Psychiatry

Zwir, Igor I; Arnedo, Javier J; Del-Val, Coral C; Pulkki-Råback, Laura L; Konte, Bettina B; Yang, Sarah S SS; Romero-Zaliz, Rocio R; Hintsanen, Mirka M; Cloninger, Kevin M KM; Garcia, Danilo D; Svrakic, Dragan M DM; Rozsa, Sandor S; Martinez, Maribel M; Lyytikäinen, Leo-Pekka LP; Giegling, Ina I; Kähönen, Mika M; Hernandez-Cuervo, Helena H; Seppälä, Ilkka I; Raitoharju, Emma E; de Erausquin, Gabriel A GA; Raitakari, Olli O; Rujescu, Dan D; Postolache, Teodor T TT; Sung, Joohon J; Keltikangas-Järvinen, Liisa L; Lehtimäki, Terho T; Cloninger, C Robert CR

Publication Date: 2020-10

Variant appearance in text: FAM24B: 5C>T; Pro2Leu; rs1891110

PubMed Link: 30279457

Variant Present in the following documents:

• 41380_2018_264_MOESM15_ESM.xlsx, sheet 1

View BVdb publication page

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Exome-wide association study of plasma lipids in >300,000 individuals.

Nature Genetics

Liu, Dajiang J DJ; Peloso, Gina M GM; Yu, Haojie H; Butterworth, Adam S AS; Wang, Xiao X; Mahajan, Anubha A; Saleheen, Danish D; Emdin, Connor C; Alam, Dewan D; Alves, Alexessander Couto AC; Amouyel, Philippe P; Di Angelantonio, Emanuele E; Arveiler, Dominique D; Assimes, Themistocles L TL; Auer, Paul L PL; Baber, Usman U; Ballantyne, Christie M CM; Bang, Lia E LE; Benn, Marianne M; Bis, Joshua C JC; Boehnke, Michael M; Boerwinkle, Eric E; Bork-Jensen, Jette J; Bottinger, Erwin P EP; Brandslund, Ivan I; Brown, Morris M; Busonero, Fabio F; Caulfield, Mark J MJ; Chambers, John C JC; Chasman, Daniel I DI; Chen, Y Eugene YE; Chen, Yii-Der Ida YI; Chowdhury, Rajiv R; Christensen, Cramer C; Chu, Audrey Y AY; Connell, John M JM; Cucca, Francesco F; Cupples, L Adrienne LA; Damrauer, Scott M SM; Davies, Gail G; Deary, Ian J IJ; Dedoussis, George G; Denny, Joshua C JC; Dominiczak, Anna A; Dubé, Marie-Pierre MP; Ebeling, Tapani T; Eiriksdottir, Gudny G; Esko, Tõnu T; Farmaki, Aliki-Eleni AE; Feitosa, Mary F MF; Ferrario, Marco M; Ferrieres, Jean J; Ford, Ian I; Fornage, Myriam M; Franks, Paul W PW; Frayling, Timothy M TM; Frikke-Schmidt, Ruth R; Fritsche, Lars G LG; Frossard, Philippe P; Fuster, Valentin V; Ganesh, Santhi K SK; Gao, Wei W; Garcia, Melissa E ME; Gieger, Christian C; Giulianini, Franco F; Goodarzi, Mark O MO; Grallert, Harald H; Grarup, Niels N; Groop, Leif L; Grove, Megan L ML; Gudnason, Vilmundur V; Hansen, Torben T; Harris, Tamara B TB; Hayward, Caroline C; Hirschhorn, Joel N JN; Holmen, Oddgeir L OL; Huffman, Jennifer J; Huo, Yong Y; Hveem, Kristian K; Jabeen, Sehrish S; Jackson, Anne U AU; Jakobsdottir, Johanna J; Jarvelin, Marjo-Riitta MR; Jensen, Gorm B GB; Jørgensen, Marit E ME; Jukema, J Wouter JW; Justesen, Johanne M JM; Kamstrup, Pia R PR; Kanoni, Stavroula S; Karpe, Fredrik F; Kee, Frank F; Khera, Amit V AV; Klarin, Derek D; Koistinen, Heikki A HA; Kooner, Jaspal S JS; Kooperberg, Charles C; Kuulasmaa, Kari K; Kuusisto, Johanna J; Laakso, Markku M; Lakka, Timo T; Langenberg, Claudia C; Langsted, Anne A; Launer, Lenore J LJ; Lauritzen, Torsten T; Liewald, David C M DCM; Lin, Li An LA; Linneberg, Allan A; Loos, Ruth J F RJF; Lu, Yingchang Y; Lu, Xiangfeng X; Mägi, Reedik R; Malarstig, Anders A; Manichaikul, Ani A; Manning, Alisa K AK; Mäntyselkä, Pekka P; Marouli, Eirini E; Masca, Nicholas G D NGD; Maschio, Andrea A; Meigs, James B JB; Melander, Olle O; Metspalu, Andres A; Morris, Andrew P AP; Morrison, Alanna C AC; Mulas, Antonella A; Müller-Nurasyid, Martina M; Munroe, Patricia B PB; Neville, Matt J MJ; Nielsen, Jonas B JB; Nielsen, Sune F SF; Nordestgaard, Børge G BG; Ordovas, Jose M JM; Mehran, Roxana R; O'Donnell, Christoper J CJ; Orho-Melander, Marju M; Molony, Cliona M CM; Muntendam, Pieter P; Padmanabhan, Sandosh S; Palmer, Colin N A CNA; Pasko, Dorota D; Patel, Aniruddh P AP; Pedersen, Oluf O; Perola, Markus M; Peters, Annette A; Pisinger, Charlotta C; Pistis, Giorgio G; Polasek, Ozren O; Poulter, Neil N; Psaty, Bruce M BM; Rader, Daniel J DJ; Rasheed, Asif A; Rauramaa, Rainer R; Reilly, Dermot F DF; Reiner, Alex P AP; Renström, Frida F; Rich, Stephen S SS; Ridker, Paul M PM; Rioux, John D JD; Robertson, Neil R NR; Roden, Dan M DM; Rotter, Jerome I JI; Rudan, Igor I; Salomaa, Veikko V; Samani, Nilesh J NJ; Sanna, Serena S; Sattar, Naveed N; Schmidt, Ellen M EM; Scott, Robert A RA; Sever, Peter P; Sevilla, Raquel S RS; Shaffer, Christian M CM; Sim, Xueling X; Sivapalaratnam, Suthesh S; Small, Kerrin S KS; Smith, Albert V AV; Smith, Blair H BH; Somayajula, Sangeetha S; Southam, Lorraine L; Spector, Timothy D TD; Speliotes, Elizabeth K EK; Starr, John M JM; Stirrups, Kathleen E KE; Stitziel, Nathan N; Strauch, Konstantin K; Stringham, Heather M HM; Surendran, Praveen P; Tada, Hayato H; Tall, Alan R AR; Tang, Hua H; Tardif, Jean-Claude JC; Taylor, Kent D KD; Trompet, Stella S; Tsao, Philip S PS; Tuomilehto, Jaakko J; Tybjaerg-Hansen, Anne A; van Zuydam, Natalie R NR; Varbo, Anette A; Varga, Tibor V TV; Virtamo, Jarmo J; Waldenberger, Melanie M; Wang, Nan N; Wareham, Nick J NJ; Warren, Helen R HR; Weeke, Peter E PE; Weinstock, Joshua J; Wessel, Jennifer J; Wilson, James G JG; Wilson, Peter W F PWF; Xu, Ming M; Yaghootkar, Hanieh H; Young, Robin R; Zeggini, Eleftheria E; Zhang, He H; Zheng, Neil S NS; Zhang, Weihua W; Zhang, Yan Y; Zhou, Wei W; Zhou, Yanhua Y; Zoledziewska, Magdalena M; , ; , ; , ; , ; , ; Howson, Joanna M M JMM; Danesh, John J; McCarthy, Mark I MI; Cowan, Chad A CA; Abecasis, Goncalo G; Deloukas, Panos P; Musunuru, Kiran K; Willer, Cristen J CJ; Kathiresan, Sekar S

Publication Date: 2017-12

Variant appearance in text: FAM24B: Pro2Leu; rs1891110

PubMed Link: 29083408

Variant Present in the following documents:

• Main text
• nihms909134.pdf

View BVdb publication page

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A SNP panel and online tool for checking genotype concordance through comparing QR codes.

Plos One

Du, Yonghong Y; Martin, Joshua S JS; McGee, John J; Yang, Yuchen Y; Liu, Eric Yi EY; Sun, Yingrui Y; Geihs, Matthias M; Kong, Xuejun X; Zhou, Eric Lingfeng EL; Li, Yun Y; Huang, Jie J

Publication Date: 2017

Variant appearance in text: rs1891110

PubMed Link: 28926565

Variant Present in the following documents:

• Main text
• pone.0182438.pdf

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs1891110

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, 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: FAM24B: P2L; rs1891110

PubMed Link: 26549847

Variant Present in the following documents:

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

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: FAM24B: P2L; rs1891110

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: FAM24B: P2L

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_ESM.xlsx, sheet 1

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: FAM24B: P2L; rs1891110

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: FAM24B: P2L; rs1891110

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 22
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 23
• supp_gku1005_nar-01266-met-n-2014-File014.xlsx, sheet 8
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 10
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 9
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 7
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 8
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 11

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: rs1891110

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1
• cas0105-0202-SD3.xlsx, sheet 1

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: rs1891110

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

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Allele-specific gene expression patterns in primary leukemic cells reveal regulation of gene expression by CpG site methylation.

Genome Research

Milani, Lili L; Lundmark, Anders A; Nordlund, Jessica J; Kiialainen, Anna A; Flaegstad, Trond T; Jonmundsson, Gudmundur G; Kanerva, Jukka J; Schmiegelow, Kjeld K; Gunderson, Kevin L KL; Lönnerholm, Gudmar G; Syvänen, Ann-Christine AC

Publication Date: 2009-01

Variant appearance in text: rs1891110

PubMed Link: 18997001

Variant Present in the following documents:

• Main text

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Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration.

American Journal Of Human Genetics

Schmidt, Silke S; Hauser, Michael A MA; Scott, William K WK; Postel, Eric A EA; Agarwal, Anita A; Gallins, Paul P; Wong, Frank F; Chen, Yu Sarah YS; Spencer, Kylee K; Schnetz-Boutaud, Nathalie N; Haines, Jonathan L JL; Pericak-Vance, Margaret A MA

Publication Date: 2006-05

Variant appearance in text: rs1891110

PubMed Link: 16642439

Variant Present in the following documents:

• Main text

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