Publications:

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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: rs8396

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

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

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: rs8396

PubMed Link: 36269797

Variant Present in the following documents:

• ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1

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Empowering consumers to PREVENT diet-related diseases through OMICS sciences (PREVENTOMICS): protocol for a parallel double-blinded randomised intervention trial to investigate biomarker-based nutrition plans for weight loss.

Bmj Open

Aldubayan, Mona Adnan MA; Pigsborg, Kristina K; Gormsen, Sophia M O SMO; Serra, Francisca F; Palou, Mariona M; Mena, Pedro P; Wetzels, Mart M; Calleja, Alberto A; Caimari, Antoni A; Del Bas, Josep J; Gutierrez, Biotza B; Magkos, Faidon F; Hjorth, Mads Fiil MF

Publication Date: 2022-03-29

Variant appearance in text: rs8396

PubMed Link: 35351696

Variant Present in the following documents:

• Main text
• bmjopen-2021-051285.draft_revisions.pdf
• bmjopen-2021-051285.pdf

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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: rs8396

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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A network-based conditional genetic association analysis of the human metabolome.

Gigascience

Tsepilov, Y A YA; Sharapov, S Z SZ; Zaytseva, O O OO; Krumsiek, J J; Prehn, C C; Adamski, J J; Kastenmüller, G G; Wang-Sattler, R R; Strauch, K K; Gieger, C C; Aulchenko, Y S YS

Publication Date: 2018-12-01

Variant appearance in text: rs8396

PubMed Link: 30496450

Variant Present in the following documents:

• Main text

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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: rs8396

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: rs8396

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4
• oncotarget-08-95841-s002.xlsx, sheet 1

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Genetic variants including markers from the exome chip and metabolite traits of type 2 diabetes.

Scientific Reports

Jäger, Susanne S; Wahl, Simone S; Kröger, Janine J; Sharma, Sapna S; Hoffmann, Per P; Floegel, Anna A; Pischon, Tobias T; Prehn, Cornelia C; Adamski, Jerzy J; Müller-Nurasyid, Martina M; Waldenberger, Melanie M; Strauch, Konstantin K; Peters, Annette A; Gieger, Christian C; Suhre, Karsten K; Grallert, Harald H; Boeing, Heiner H; Schulze, Matthias B MB; Meidtner, Karina K

Publication Date: 2017-07-20

Variant appearance in text: rs8396

PubMed Link: 28729637

Variant Present in the following documents:

• 41598_2017_6158_MOESM1_ESM.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: rs8396

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Connecting genetic risk to disease end points through the human blood plasma proteome.

Nature Communications

Suhre, Karsten K; Arnold, Matthias M; Bhagwat, Aditya Mukund AM; Cotton, Richard J RJ; Engelke, Rudolf R; Raffler, Johannes J; Sarwath, Hina H; Thareja, Gaurav G; Wahl, Annika A; DeLisle, Robert Kirk RK; Gold, Larry L; Pezer, Marija M; Lauc, Gordan G; El-Din Selim, Mohammed A MA; Mook-Kanamori, Dennis O DO; Al-Dous, Eman K EK; Mohamoud, Yasmin A YA; Malek, Joel J; Strauch, Konstantin K; Grallert, Harald H; Peters, Annette A; Kastenmüller, Gabi G; Gieger, Christian C; Graumann, Johannes J

Publication Date: 2017-02-27

Variant appearance in text: rs8396

PubMed Link: 28240269

Variant Present in the following documents:

• ncomms14357-s1.pdf

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Whole exome sequencing identifies novel candidate genes that modify chronic obstructive pulmonary disease susceptibility.

Human Genomics

Bruse, Shannon S; Moreau, Michael M; Bromberg, Yana Y; Jang, Jun-Ho JH; Wang, Nan N; Ha, Hongseok H; Picchi, Maria M; Lin, Yong Y; Langley, Raymond J RJ; Qualls, Clifford C; Klensney-Tait, Julia J; Zabner, Joseph J; Leng, Shuguang S; Mao, Jenny J; Belinsky, Steven A SA; Xing, Jinchuan J; Nyunoya, Toru T

Publication Date: 2016-01-07

Variant appearance in text: rs8396

PubMed Link: 26744305

Variant Present in the following documents:

• 40246_2015_58_MOESM5_ESM.xlsx, sheet 3
• 40246_2015_58_MOESM5_ESM.xlsx, sheet 2

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: rs8396

PubMed Link: 26549847

Variant Present in the following documents:

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

View BVdb publication page

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A new method to infer causal phenotype networks using QTL and phenotypic information.

Plos One

Wang, Huange H; van Eeuwijk, Fred A FA

Publication Date: 2014

Variant appearance in text: rs8396

PubMed Link: 25144184

Variant Present in the following documents:

• Main text

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Mapping the genetic architecture of gene regulation in whole blood.

Plos One

Schramm, Katharina K; Marzi, Carola C; Schurmann, Claudia C; Carstensen, Maren M; Reinmaa, Eva E; Biffar, Reiner R; Eckstein, Gertrud G; Gieger, Christian C; Grabe, Hans-Jörgen HJ; Homuth, Georg G; Kastenmüller, Gabriele G; Mägi, Reedik R; Metspalu, Andres A; Mihailov, Evelin E; Peters, Annette A; Petersmann, Astrid A; Roden, Michael M; Strauch, Konstantin K; Suhre, Karsten K; Teumer, Alexander A; Völker, Uwe U; Völzke, Henry H; Wang-Sattler, Rui R; Waldenberger, Melanie M; Meitinger, Thomas T; Illig, Thomas T; Herder, Christian C; Grallert, Harald H; Prokisch, Holger H

Publication Date: 2014

Variant appearance in text: rs8396

PubMed Link: 24740359

Variant Present in the following documents:

• Main text
• pone.0093844.pdf

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A genome-wide "pleiotropy scan" does not identify new susceptibility loci for estrogen receptor negative breast cancer.

Plos One

Campa, Daniele D; Barrdahl, Myrto M; Tsilidis, Konstantinos K KK; Severi, Gianluca G; Diver, W Ryan WR; Siddiq, Afshan A; Chanock, Stephen S; Hoover, Robert N RN; Ziegler, Regina G RG; Berg, Christine D CD; Buys, Saundra S SS; Haiman, Christopher A CA; Henderson, Brian E BE; Schumacher, Fredrick R FR; Le Marchand, Loïc L; Flesch-Janys, Dieter D; Lindström, Sara S; Hunter, David J DJ; Hankinson, Susan E SE; Willett, Walter C WC; Kraft, Peter P; Cox, David G DG; Khaw, Kay-Tee KT; Tjønneland, Anne A; Dossus, Laure L; Trichopoulos, Dimitrios D; Panico, Salvatore S; van Gils, Carla H CH; Weiderpass, Elisabete E; Barricarte, Aurelio A; Sund, Malin M; Gaudet, Mia M MM; Giles, Graham G; Southey, Melissa M; Baglietto, Laura L; Chang-Claude, Jenny J; Kaaks, Rudolf R; Canzian, Federico F

Publication Date: 2014

Variant appearance in text: rs8396

PubMed Link: 24523857

Variant Present in the following documents:

• Main text
• pone.0085955.pdf

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SNPs affecting serum metabolomic traits may regulate gene transcription and lipid accumulation in the liver.

Metabolism: Clinical And Experimental

Mirkov, Snezana S; Myers, Jamie L JL; Ramírez, Jacqueline J; Liu, Wanqing W

Publication Date: 2012-11

Variant appearance in text: rs8396

PubMed Link: 22738862

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic determinants of metabolism in health and disease: from biochemical genetics to genome-wide associations.

Genome Medicine

Robinette, Steven L SL; Holmes, Elaine E; Nicholson, Jeremy K JK; Dumas, Marc E ME

Publication Date: 2012-04-30

Variant appearance in text: rs8396

PubMed Link: 22546284

Variant Present in the following documents:

• Main text

View BVdb publication page

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A genome-wide metabolic QTL analysis in Europeans implicates two loci shaped by recent positive selection.

Plos Genetics

Nicholson, George G; Rantalainen, Mattias M; Li, Jia V JV; Maher, Anthony D AD; Malmodin, Daniel D; Ahmadi, Kourosh R KR; Faber, Johan H JH; Barrett, Amy A; Min, Josine L JL; Rayner, N William NW; Toft, Henrik H; Krestyaninova, Maria M; Viksna, Juris J; Neogi, Sudeshna Guha SG; Dumas, Marc-Emmanuel ME; Sarkans, Ugis U; , ; Donnelly, Peter P; Illig, Thomas T; Adamski, Jerzy J; Suhre, Karsten K; Allen, Maxine M; Zondervan, Krina T KT; Spector, Tim D TD; Nicholson, Jeremy K JK; Lindon, John C JC; Baunsgaard, Dorrit D; Holmes, Elaine E; McCarthy, Mark I MI; Holmes, Chris C CC

Publication Date: 2011-09

Variant appearance in text: rs8396

PubMed Link: 21931564

Variant Present in the following documents:

• Main text
• pgen.1002270.pdf

View BVdb publication page

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Human metabolic individuality in biomedical and pharmaceutical research.

Nature

Suhre, Karsten K; Shin, So-Youn SY; Petersen, Ann-Kristin AK; Mohney, Robert P RP; Meredith, David D; Wägele, Brigitte B; Altmaier, Elisabeth E; , ; Deloukas, Panos P; Erdmann, Jeanette J; Grundberg, Elin E; Hammond, Christopher J CJ; de Angelis, Martin Hrabé MH; Kastenmüller, Gabi G; Köttgen, Anna A; Kronenberg, Florian F; Mangino, Massimo M; Meisinger, Christa C; Meitinger, Thomas T; Mewes, Hans-Werner HW; Milburn, Michael V MV; Prehn, Cornelia C; Raffler, Johannes J; Ried, Janina S JS; Römisch-Margl, Werner W; Samani, Nilesh J NJ; Small, Kerrin S KS; Wichmann, H-Erich HE; Zhai, Guangju G; Illig, Thomas T; Spector, Tim D TD; Adamski, Jerzy J; Soranzo, Nicole N; Gieger, Christian C

Publication Date: 2011-08-31

Variant appearance in text: rs8396

PubMed Link: 21886157

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.

Nucleic Acids Research

Wang, Wenyi W; Shen, Peidong P; Thiyagarajan, Sreedevi S; Lin, Shengrong S; Palm, Curtis C; Horvath, Rita R; Klopstock, Thomas T; Cutler, David D; Pique, Lynn L; Schrijver, Iris I; Davis, Ronald W RW; Mindrinos, Michael M; Speed, Terence P TP; Scharfe, Curt C

Publication Date: 2011-01

Variant appearance in text: rs8396

PubMed Link: 20843780

Variant Present in the following documents:

• supp_gkq750_NAR-WangWetal-SuppTable-6.xls, sheet 1

View BVdb publication page

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A genome-wide perspective of genetic variation in human metabolism.

Nature Genetics

Illig, Thomas T; Gieger, Christian C; Zhai, Guangju G; Römisch-Margl, Werner W; Wang-Sattler, Rui R; Prehn, Cornelia C; Altmaier, Elisabeth E; Kastenmüller, Gabi G; Kato, Bernet S BS; Mewes, Hans-Werner HW; Meitinger, Thomas T; de Angelis, Martin Hrabé MH; Kronenberg, Florian F; Soranzo, Nicole N; Wichmann, H-Erich HE; Spector, Tim D TD; Adamski, Jerzy J; Suhre, Karsten K

Publication Date: 2010-02

Variant appearance in text: rs8396

PubMed Link: 20037589

Variant Present in the following documents:

• Main text

View BVdb publication page

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