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: rs509360

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.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: rs509360

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

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: rs509360

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

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Omega-6 fatty acids and the risk of cardiovascular disease: insights from a systematic review and meta-analysis of randomized controlled trials and a Mendelian randomization study.

Archives Of Medical Science : Ams

Mazidi, Mohsen M; Shekoohi, Niloofar N; Katsiki, Niki N; Banach, Maciej M

Publication Date: 2022

Variant appearance in text: rs509360

PubMed Link: 35316920

Variant Present in the following documents:

• Main text
• AMS-18-2-136070.pdf

View BVdb publication page

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Genetic architecture of microRNA expression and its link to complex diseases in the Japanese population.

Human Molecular Genetics

Sonehara, Kyuto K; Sakaue, Saori S; Maeda, Yuichi Y; Hirata, Jun J; Kishikawa, Toshihiro T; Yamamoto, Kenichi K; Matsuoka, Hidetoshi H; Yoshimura, Maiko M; Nii, Takuro T; Ohshima, Shiro S; Kumanogoh, Atsushi A; Okada, Yukinori Y

Publication Date: 2022-06-04

Variant appearance in text: rs509360

PubMed Link: 34919704

Variant Present in the following documents:

• Main text
• ddab361.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: rs509360

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Eicosanoid Inflammatory Mediators Are Robustly Associated With Blood Pressure in the General Population.

Journal Of The American Heart Association

Palmu, Joonatan J; Watrous, Jeramie D JD; Mercader, Kysha K; Havulinna, Aki S AS; Lagerborg, Kim A KA; Salosensaari, Aaro A; Inouye, Mike M; Larson, Martin G MG; Rong, Jian J; Vasan, Ramachandran S RS; Lahti, Leo L; Andres, Allen A; Cheng, Susan S; Jousilahti, Pekka P; Salomaa, Veikko V; Jain, Mohit M; Niiranen, Teemu J TJ

Publication Date: 2020-10-20

Variant appearance in text: rs509360

PubMed Link: 32975162

Variant Present in the following documents:

• JAH3-9-e017598.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: rs509360

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Chromatin interactions and expression quantitative trait loci reveal genetic drivers of multimorbidities.

Nature Communications

Fadason, Tayaza T; Schierding, William W; Lumley, Thomas T; O'Sullivan, Justin M JM

Publication Date: 2018-12-05

Variant appearance in text: rs509360

PubMed Link: 30518762

Variant Present in the following documents:

• 41467_2018_Article_7692.pdf

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: MYRF: 2572+42A>G; rs509360

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

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Departure from Hardy Weinberg Equilibrium and Genotyping Error.

Frontiers In Genetics

Chen, Bowang B; Cole, John W JW; Grond-Ginsbach, Caspar C

Publication Date: 2017

Variant appearance in text: rs509360

PubMed Link: 29163635

Variant Present in the following documents:

• Main text
• fgene-08-00167.pdf

View BVdb publication page

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A genome-wide association study of n-3 and n-6 plasma fatty acids in a Singaporean Chinese population.

Genes & Nutrition

Dorajoo, Rajkumar R; Sun, Ye Y; Han, Yi Y; Ke, Tingjing T; Burger, Ayala A; Chang, Xuling X; Low, Hui Qi HQ; Guan, Weihua W; Lemaitre, Rozenn N RN; Khor, Chiea-Chuen CC; Yuan, Jian-Min JM; Koh, Woon-Puay WP; Ong, Choon Nam CN; Tai, E Shyong ES; Liu, Jianjun J; van Dam, Rob M RM; Heng, Chew-Kiat CK; Friedlander, Yechiel Y

Publication Date: 2015-11

Variant appearance in text: rs509360

PubMed Link: 26584805

Variant Present in the following documents:

• Main text

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: rs509360

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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Insights from GWAS: emerging landscape of mechanisms underlying complex trait disease.

Bmc Genomics

Pal, Lipika R LR; Yu, Chen-Hsin CH; Mount, Stephen M SM; Moult, John J

Publication Date: 2015

Variant appearance in text: rs509360

PubMed Link: 26110739

Variant Present in the following documents:

• 1471-2164-16-S8-S4-S1.pdf

View BVdb publication page

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A genome-wide association study of saturated, mono- and polyunsaturated red blood cell fatty acids in the Framingham Heart Offspring Study.

Prostaglandins, Leukotrienes, And Essential Fatty Acids

Tintle, N L NL; Pottala, J V JV; Lacey, S S; Ramachandran, V V; Westra, J J; Rogers, A A; Clark, J J; Olthoff, B B; Larson, M M; Harris, W W; Shearer, G C GC

Publication Date: 2015-03

Variant appearance in text: rs509360

PubMed Link: 25500335

Variant Present in the following documents:

• Main text

View BVdb publication page

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Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.

Nature Genetics

Zhang, Ben B; Jia, Wei-Hua WH; Matsuda, Koichi K; Kweon, Sun-Seog SS; Matsuo, Keitaro K; Xiang, Yong-Bing YB; Shin, Aesun A; Jee, Sun Ha SH; Kim, Dong-Hyun DH; Cai, Qiuyin Q; Long, Jirong J; Shi, Jiajun J; Wen, Wanqing W; Yang, Gong G; Zhang, Yanfeng Y; Li, Chun C; Li, Bingshan B; Guo, Yan Y; Ren, Zefang Z; Ji, Bu-Tian BT; Pan, Zhi-Zhong ZZ; Takahashi, Atsushi A; Shin, Min-Ho MH; Matsuda, Fumihiko F; Gao, Yu-Tang YT; Oh, Jae Hwan JH; Kim, Soriul S; Ahn, Yoon-Ok YO; , ; Chan, Andrew T AT; Chang-Claude, Jenny J; Slattery, Martha L ML; , ; Gruber, Stephen B SB; Schumacher, Fredrick R FR; Stenzel, Stephanie L SL; , ; Casey, Graham G; Kim, Hyeong-Rok HR; Jeong, Jin-Young JY; Park, Ji Won JW; Li, Hong-Lan HL; Hosono, Satoyo S; Cho, Sang-Hee SH; Kubo, Michiaki M; Shu, Xiao-Ou XO; Zeng, Yi-Xin YX; Zheng, Wei W

Publication Date: 2014-06

Variant appearance in text: rs509360

PubMed Link: 24836286

Variant Present in the following documents:

• NIHMS588441-supplement-1.pdf

View BVdb publication page

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Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci.

Plos Genetics

Service, Susan K SK; Teslovich, Tanya M TM; Fuchsberger, Christian C; Ramensky, Vasily V; Yajnik, Pranav P; Koboldt, Daniel C DC; Larson, David E DE; Zhang, Qunyuan Q; Lin, Ling L; Welch, Ryan R; Ding, Li L; McLellan, Michael D MD; O'Laughlin, Michele M; Fronick, Catrina C; Fulton, Lucinda L LL; Magrini, Vincent V; Swift, Amy A; Elliott, Paul P; Jarvelin, Marjo-Riitta MR; Kaakinen, Marika M; McCarthy, Mark I MI; Peltonen, Leena L; Pouta, Anneli A; Bonnycastle, Lori L LL; Collins, Francis S FS; Narisu, Narisu N; Stringham, Heather M HM; Tuomilehto, Jaakko J; Ripatti, Samuli S; Fulton, Robert S RS; Sabatti, Chiara C; Wilson, Richard K RK; Boehnke, Michael M; Freimer, Nelson B NB

Publication Date: 2014-01

Variant appearance in text: rs509360

PubMed Link: 24497850

Variant Present in the following documents:

• Main text
• pgen.1004147.pdf

View BVdb publication page

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Genetic variation in the base excision repair pathway, environmental risk factors, and colorectal adenoma risk.

Plos One

Corral, Roman R; Lewinger, Juan Pablo JP; Joshi, Amit D AD; Levine, A Joan AJ; Vandenberg, David J DJ; Haile, Robert W RW; Stern, Mariana C MC

Publication Date: 2013

Variant appearance in text: rs509360

PubMed Link: 23951112

Variant Present in the following documents:

• Main text
• pone.0071211.pdf

View BVdb publication page

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Genetic variation in base excision repair pathway genes, pesticide exposure, and prostate cancer risk.

Environmental Health Perspectives

Barry, Kathryn Hughes KH; Koutros, Stella S; Berndt, Sonja I SI; Andreotti, Gabriella G; Hoppin, Jane A JA; Sandler, Dale P DP; Burdette, Laurie A LA; Yeager, Meredith M; Freeman, Laura E Beane LE; Lubin, Jay H JH; Ma, Xiaomei X; Zheng, Tongzhang T; Alavanja, Michael C R MC

Publication Date: 2011-12

Variant appearance in text: rs509360

PubMed Link: 21810555

Variant Present in the following documents:

• ehp.1103454.s001.pdf

View BVdb publication page

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Genome-wide association study of plasma polyunsaturated fatty acids in the InCHIANTI Study.

Plos Genetics

Tanaka, Toshiko T; Shen, Jian J; Abecasis, Gonçalo R GR; Kisialiou, Aliaksei A; Ordovas, Jose M JM; Guralnik, Jack M JM; Singleton, Andrew A; Bandinelli, Stefania S; Cherubini, Antonio A; Arnett, Donna D; Tsai, Michael Y MY; Ferrucci, Luigi L

Publication Date: 2009-01

Variant appearance in text: rs509360

PubMed Link: 19148276

Variant Present in the following documents:

• Main text
• pgen.1000338.pdf

View BVdb publication page

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