Publications:

---

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: rs592229

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

---

Genotype imputation and polygenic score estimation in northwestern Russian population.

Plos One

Kolosov, Nikita N; Rezapova, Valeriia V; Rotar, Oxana O; Loboda, Alexander A; Freylikhman, Olga O; Melnik, Olesya O; Sergushichev, Alexey A; Stevens, Christine C; Voortman, Trudy T; Kostareva, Anna A; Konradi, Alexandra A; Daly, Mark J MJ; Artomov, Mykyta M

Publication Date: 2022

Variant appearance in text: rs592229

PubMed Link: 35763490

Variant Present in the following documents:

• pone.0269434.s001.pdf

View BVdb publication page

---

Assessing the impact of alcohol consumption on the genetic contribution to mean corpuscular volume.

Human Molecular Genetics

Thompson, Andrew A; King, Katharine K; Morris, Andrew P AP; Pirmohamed, Munir M

Publication Date: 2021-10-13

Variant appearance in text: rs592229

PubMed Link: 34104963

Variant Present in the following documents:

• Main text
• ddab147.pdf

View BVdb publication page

---

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: rs592229

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

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: rs592229

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

---

Identification of 26 novel loci that confer susceptibility to early-onset coronary artery disease in a Japanese population.

Biomedical Reports

Yamada, Yoshiji Y; Yasukochi, Yoshiki Y; Kato, Kimihiko K; Oguri, Mitsutoshi M; Horibe, Hideki H; Fujimaki, Tetsuo T; Takeuchi, Ichiro I; Sakuma, Jun J

Publication Date: 2018-11

Variant appearance in text: rs592229

PubMed Link: 30402224

Variant Present in the following documents:

• Main text
• br-09-05-0383.pdf

View BVdb publication page

---

Fine-mapping of HLA class I and class II genes identified two independent novel variants associated with nasopharyngeal carcinoma susceptibility.

Cancer Medicine

Wang, Tong-Min TM; Zhou, Ting T; He, Yong-Qiao YQ; Xue, Wen-Qiong WQ; Zhang, Jiang-Bo JB; Zheng, Xiao-Hui XH; Li, Xi-Zhao XZ; Zhang, Shao-Dan SD; Zeng, Yi-Xin YX; Jia, Wei-Hua WH

Publication Date: 2018-12

Variant appearance in text: rs592229

PubMed Link: 30378292

Variant Present in the following documents:

• CAM4-7-6308-s006.xlsx, sheet 1

View BVdb publication page

---

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: SKIV2L: 1212-50G>T; rs592229

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

View BVdb publication page

---

ClusterMI: Detecting High-Order SNP Interactions Based on Clustering and Mutual Information.

International Journal Of Molecular Sciences

Cao, Xia X; Yu, Guoxian G; Liu, Jie J; Jia, Lianyin L; Wang, Jun J

Publication Date: 2018-08-02

Variant appearance in text: rs592229

PubMed Link: 30072632

Variant Present in the following documents:

• Main text
• ijms-19-02267.pdf

View BVdb publication page

---

HiSeeker: Detecting High-Order SNP Interactions Based on Pairwise SNP Combinations.

Genes

Liu, Jie J; Yu, Guoxian G; Jiang, Yuan Y; Wang, Jun J

Publication Date: 2017-05-31

Variant appearance in text: rs592229

PubMed Link: 28561745

Variant Present in the following documents:

• Main text
• genes-08-00153.pdf

View BVdb publication page

---

Alternate-locus aware variant calling in whole genome sequencing.

Genome Medicine

Jäger, Marten M; Schubach, Max M; Zemojtel, Tomasz T; Reinert, Knut K; Church, Deanna M DM; Robinson, Peter N PN

Publication Date: 2016-12-13

Variant appearance in text: rs592229

PubMed Link: 27964746

Variant Present in the following documents:

• 13073_2016_383_MOESM1_ESM.pdf

View BVdb publication page

---

Genome-wide epistatic expression quantitative trait loci discovery in four human tissues reveals the importance of local chromosomal interactions governing gene expression.

Bmc Genomics

Fitzpatrick, Darren J DJ; Ryan, Colm J CJ; Shah, Naisha N; Greene, Derek D; Molony, Cliona C; Shields, Denis C DC

Publication Date: 2015-02-21

Variant appearance in text: rs592229

PubMed Link: 25765234

Variant Present in the following documents:

• Main text
• 12864_2015_Article_1300.pdf

View BVdb publication page

---

A novel common variant in DCST2 is associated with length in early life and height in adulthood.

Human Molecular Genetics

van der Valk, Ralf J P RJ; Kreiner-Møller, Eskil E; Kooijman, Marjolein N MN; Guxens, Mònica M; Stergiakouli, Evangelia E; Sääf, Annika A; Bradfield, Jonathan P JP; Geller, Frank F; Hayes, M Geoffrey MG; Cousminer, Diana L DL; Körner, Antje A; Thiering, Elisabeth E; Curtin, John A JA; Myhre, Ronny R; Huikari, Ville V; Joro, Raimo R; Kerkhof, Marjan M; Warrington, Nicole M NM; Pitkänen, Niina N; Ntalla, Ioanna I; Horikoshi, Momoko M; Veijola, Riitta R; Freathy, Rachel M RM; Teo, Yik-Ying YY; Barton, Sheila J SJ; Evans, David M DM; Kemp, John P JP; St Pourcain, Beate B; Ring, Susan M SM; Davey Smith, George G; Bergström, Anna A; Kull, Inger I; Hakonarson, Hakon H; Mentch, Frank D FD; Bisgaard, Hans H; Chawes, Bo B; Stokholm, Jakob J; Waage, Johannes J; Eriksen, Patrick P; Sevelsted, Astrid A; Melbye, Mads M; , ; van Duijn, Cornelia M CM; Medina-Gomez, Carolina C; Hofman, Albert A; de Jongste, Johan C JC; Taal, H Rob HR; Uitterlinden, André G AG; , ; Armstrong, Loren L LL; Eriksson, Johan J; Palotie, Aarno A; Bustamante, Mariona M; Estivill, Xavier X; Gonzalez, Juan R JR; Llop, Sabrina S; Kiess, Wieland W; Mahajan, Anubha A; Flexeder, Claudia C; Tiesler, Carla M T CM; Murray, Clare S CS; Simpson, Angela A; Magnus, Per P; Sengpiel, Verena V; Hartikainen, Anna-Liisa AL; Keinanen-Kiukaanniemi, Sirkka S; Lewin, Alexandra A; Da Silva Couto Alves, Alexessander A; Blakemore, Alexandra I AI; Buxton, Jessica L JL; Kaakinen, Marika M; Rodriguez, Alina A; Sebert, Sylvain S; Vaarasmaki, Marja M; Lakka, Timo T; Lindi, Virpi V; Gehring, Ulrike U; Postma, Dirkje S DS; Ang, Wei W; Newnham, John P JP; Lyytikäinen, Leo-Pekka LP; Pahkala, Katja K; Raitakari, Olli T OT; Panoutsopoulou, Kalliope K; Zeggini, Eleftheria E; Boomsma, Dorret I DI; Groen-Blokhuis, Maria M; Ilonen, Jorma J; Franke, Lude L; Hirschhorn, Joel N JN; Pers, Tune H TH; Liang, Liming L; Huang, Jinyan J; Hocher, Berthold B; Knip, Mikael M; Saw, Seang-Mei SM; Holloway, John W JW; Melén, Erik E; Grant, Struan F A SF; Feenstra, Bjarke B; Lowe, William L WL; Widén, Elisabeth E; Sergeyev, Elena E; Grallert, Harald H; Custovic, Adnan A; Jacobsson, Bo B; Jarvelin, Marjo-Riitta MR; Atalay, Mustafa M; Koppelman, Gerard H GH; Pennell, Craig E CE; Niinikoski, Harri H; Dedoussis, George V GV; Mccarthy, Mark I MI; Frayling, Timothy M TM; Sunyer, Jordi J; Timpson, Nicholas J NJ; Rivadeneira, Fernando F; Bønnelykke, Klaus K; Jaddoe, Vincent W V VW; ,

Publication Date: 2015-02-15

Variant appearance in text: rs592229

PubMed Link: 25281659

Variant Present in the following documents:

• Main text
• ddu510.pdf

View BVdb publication page

---

GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.

Genes And Immunity

Armstrong, D L DL; Zidovetzki, R R; Alarcón-Riquelme, M E ME; Tsao, B P BP; Criswell, L A LA; Kimberly, R P RP; Harley, J B JB; Sivils, K L KL; Vyse, T J TJ; Gaffney, P M PM; Langefeld, C D CD; Jacob, C O CO

Publication Date: 2014-09

Variant appearance in text: rs592229

PubMed Link: 24871463

Variant Present in the following documents:

• NIHMS583203-supplement-1.pdf

View BVdb publication page

---

Host genetics and immune control of HIV-1 infection: fine mapping for the extended human MHC region in an African cohort.

Genes And Immunity

Prentice, H A HA; Pajewski, N M NM; He, D D; Zhang, K K; Brown, E E EE; Kilembe, W W; Allen, S S; Hunter, E E; Kaslow, R A RA; Tang, J J

Publication Date: 2014

Variant appearance in text: rs592229

PubMed Link: 24784026

Variant Present in the following documents:

• NIHMS580846-supplement-1.xlsx, sheet 3
• NIHMS580846-supplement-1.xlsx, sheet 2

View BVdb publication page

---

Using information interaction to discover epistatic effects in complex diseases.

Plos One

Anunciação, Orlando O; Vinga, Susana S; Oliveira, Arlindo L AL

Publication Date: 2013

Variant appearance in text: rs592229

PubMed Link: 24194833

Variant Present in the following documents:

• Main text
• pone.0076300.pdf

View BVdb publication page

---

Gene expression changes with age in skin, adipose tissue, blood and brain.

Genome Biology

Glass, Daniel D; Viñuela, Ana A; Davies, Matthew N MN; Ramasamy, Adaikalavan A; Parts, Leopold L; Knowles, David D; Brown, Andrew A AA; Hedman, Asa K AK; Small, Kerrin S KS; Buil, Alfonso A; Grundberg, Elin E; Nica, Alexandra C AC; Di Meglio, Paola P; Nestle, Frank O FO; Ryten, Mina M; , ; , ; Durbin, Richard R; McCarthy, Mark I MI; Deloukas, Panagiotis P; Dermitzakis, Emmanouil T ET; Weale, Michael E ME; Bataille, Veronique V; Spector, Tim D TD

Publication Date: 2013-07-26

Variant appearance in text: rs592229

PubMed Link: 23889843

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Candidate gene linkage approach to identify DNA variants that predispose to preterm birth.

Pediatric Research

Bream, Elise N A EN; Leppellere, Cara R CR; Cooper, Margaret E ME; Dagle, John M JM; Merrill, David C DC; Christensen, Kaare K; Simhan, Hyagriv N HN; Fong, Chin-To CT; Hallman, Mikko M; Muglia, Louis J LJ; Marazita, Mary L ML; Murray, Jeffrey C JC

Publication Date: 2013-02

Variant appearance in text: rs592229

PubMed Link: 23168575

Variant Present in the following documents:

• Main text
• nihms447458.pdf

View BVdb publication page

---

A large scale multivariate parallel ICA method reveals novel imaging-genetic relationships for Alzheimer's disease in the ADNI cohort.

Neuroimage

Meda, Shashwath A SA; Narayanan, Balaji B; Liu, Jingyu J; Perrone-Bizzozero, Nora I NI; Stevens, Michael C MC; Calhoun, Vince D VD; Glahn, David C DC; Shen, Li L; Risacher, Shannon L SL; Saykin, Andrew J AJ; Pearlson, Godfrey D GD

Publication Date: 2012-04-15

Variant appearance in text: rs592229

PubMed Link: 22245343

Variant Present in the following documents:

• Main text

View BVdb publication page

---