Publications:

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Identification of Genomic Variants Associated with the Risk of Acute Lymphoblastic Leukemia in Native Americans from Brazilian Amazonia.

Journal Of Personalized Medicine

Leitão, Luciana P C LPC; de Carvalho, Darlen C DC; Rodrigues, Juliana C G JCG; Fernandes, Marianne R MR; Wanderley, Alayde V AV; Vinagre, Lui W M S LWMS; da Silva, Natasha M NM; Pastana, Lucas F LF; Gellen, Laura P A LPA; Assunção, Matheus C E MCE; Fernandes, Sweny S M SSM; Pereira, Esdras E B EEB; Ribeiro-Dos-Santos, André M AM; Guerreiro, João F JF; Ribeiro-Dos-Santos, Ândrea Â; de Assumpção, Paulo P PP; Dos Santos, Sidney E B SEB; Dos Santos, Ney P C NPC

Publication Date: 2022-05-25

Variant appearance in text: rs12450091

PubMed Link: 35743641

Variant Present in the following documents:

• jpm-12-00856.pdf

View BVdb publication page

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A whole genome sequencing study of moderate to severe asthma identifies a lung function locus associated with asthma risk.

Scientific Reports

Chang, Diana D; Hunkapiller, Julie J; Bhangale, Tushar T; Reeder, Jens J; Mukhyala, Kiran K; Tom, Jennifer J; Cowgill, Amy A; Vogel, Jan J; Forrest, William F WF; Khan, Zia Z; Stockwell, Amy A; McCarthy, Mark I MI; Staton, Tracy L TL; Olsson, Julie J; Holweg, Cecile T J CTJ; Cheung, Dorothy S DS; Chen, Hubert H; Brauer, Matthew J MJ; Graham, Robert R RR; Behrens, Timothy T; Wilson, Mark S MS; Arron, Joseph R JR; Choy, David F DF; Yaspan, Brian L BL

Publication Date: 2022-04-02

Variant appearance in text: rs12450091

PubMed Link: 35368043

Variant Present in the following documents:

• Main text
• 41598_2022_Article_9447.pdf

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: GSDMB: E122G; rs12450091

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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IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes.

Nature Communications

Momozawa, Yukihide Y; Dmitrieva, Julia J; Théâtre, Emilie E; Deffontaine, Valérie V; Rahmouni, Souad S; Charloteaux, Benoît B; Crins, François F; Docampo, Elisa E; Elansary, Mahmoud M; Gori, Ann-Stephan AS; Lecut, Christelle C; Mariman, Rob R; Mni, Myriam M; Oury, Cécile C; Altukhov, Ilya I; Alexeev, Dmitry D; Aulchenko, Yuri Y; Amininejad, Leila L; Bouma, Gerd G; Hoentjen, Frank F; Löwenberg, Mark M; Oldenburg, Bas B; Pierik, Marieke J MJ; Vander Meulen-de Jong, Andrea E AE; Janneke van der Woude, C C; Visschedijk, Marijn C MC; , ; Lathrop, Mark M; Hugot, Jean-Pierre JP; Weersma, Rinse K RK; De Vos, Martine M; Franchimont, Denis D; Vermeire, Severine S; Kubo, Michiaki M; Louis, Edouard E; Georges, Michel M

Publication Date: 2018-06-21

Variant appearance in text: GSDMB: Glu122Gly; rs12450091

PubMed Link: 29930244

Variant Present in the following documents:

• 41467_2018_4365_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia.

Genome Research

Bhattacharya, Sanchita S; Li, Jian J; Sockell, Alexandra A; Kan, Matthew J MJ; Bava, Felice A FA; Chen, Shann-Ching SC; Ávila-Arcos, María C MC; Ji, Xuhuai X; Smith, Emery E; Asadi, Narges B NB; Lachman, Ralph S RS; Lam, Hugo Y K HYK; Bustamante, Carlos D CD; Butte, Atul J AJ; Nolan, Garry P GP

Publication Date: 2018-04

Variant appearance in text: GSDMB: E122G; rs12450091

PubMed Link: 29567674

Variant Present in the following documents:

• supp_gr.223693.117_Supplemental_Table_S6_.xls, sheet 1

View BVdb publication page

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A functional splice variant associated with decreased asthma risk abolishes the ability of gasdermin B to induce epithelial cell pyroptosis.

The Journal Of Allergy And Clinical Immunology

Panganiban, Ronald A RA; Sun, Maoyun M; Dahlin, Amber A; Park, Hae-Ryung HR; Kan, Mengyuan M; Himes, Blanca E BE; Mitchel, Jennifer A JA; Iribarren, Carlos C; Jorgenson, Eric E; Randell, Scott H SH; Israel, Elliot E; Tantisira, Kelan K; Shore, Stephanie S; Park, Jin-Ah JA; Weiss, Scott T ST; Wu, Ann Chen AC; Lu, Quan Q

Publication Date: 2018-11

Variant appearance in text: rs12450091

PubMed Link: 29330013

Variant Present in the following documents:

• Main text

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: rs12450091

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Ethnic-specific associations of rare and low-frequency DNA sequence variants with asthma.

Nature Communications

Igartua, Catherine C; Myers, Rachel A RA; Mathias, Rasika A RA; Pino-Yanes, Maria M; Eng, Celeste C; Graves, Penelope E PE; Levin, Albert M AM; Del-Rio-Navarro, Blanca E BE; Jackson, Daniel J DJ; Livne, Oren E OE; Rafaels, Nicholas N; Edlund, Christopher K CK; Yang, James J JJ; Huntsman, Scott S; Salam, Muhammad T MT; Romieu, Isabelle I; Mourad, Raphael R; Gern, James E JE; Lemanske, Robert F RF; Wyss, Annah A; Hoppin, Jane A JA; Barnes, Kathleen C KC; Burchard, Esteban G EG; Gauderman, W James WJ; Martinez, Fernando D FD; Raby, Benjamin A BA; Weiss, Scott T ST; Williams, L Keoki LK; London, Stephanie J SJ; Gilliland, Frank D FD; Nicolae, Dan L DL; Ober, Carole C

Publication Date: 2015-01-16

Variant appearance in text: GSDMB: E122G; rs12450091

PubMed Link: 25591454

Variant Present in the following documents:

• Main text
• ncomms6965-s1.pdf
• ncomms6965.pdf

View BVdb publication page

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Genome-wide association study and admixture mapping identify different asthma-associated loci in Latinos: the Genes-environments & Admixture in Latino Americans study.

The Journal Of Allergy And Clinical Immunology

Galanter, Joshua M JM; Gignoux, Christopher R CR; Torgerson, Dara G DG; Roth, Lindsey A LA; Eng, Celeste C; Oh, Sam S SS; Nguyen, Elizabeth A EA; Drake, Katherine A KA; Huntsman, Scott S; Hu, Donglei D; Sen, Saunak S; Davis, Adam A; Farber, Harold J HJ; Avila, Pedro C PC; Brigino-Buenaventura, Emerita E; LeNoir, Michael A MA; Meade, Kelley K; Serebrisky, Denise D; Borrell, Luisa N LN; Rodríguez-Cintrón, William W; Estrada, Andres Moreno AM; Mendoza, Karla Sandoval KS; Winkler, Cheryl A CA; Klitz, William W; Romieu, Isabelle I; London, Stephanie J SJ; Gilliland, Frank F; Martinez, Fernando F; Bustamante, Carlos C; Williams, L Keoki LK; Kumar, Rajesh R; Rodríguez-Santana, José R JR; Burchard, Esteban G EG

Publication Date: 2014-08

Variant appearance in text: rs12450091

PubMed Link: 24406073

Variant Present in the following documents:

• Main text

View BVdb publication page

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