Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: HSPA1L: 802G>A; Ala268Thr

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Integrative genetic, genomic and transcriptomic analysis of heat shock protein and nuclear hormone receptor gene associations with spontaneous preterm birth.

Scientific Reports

Huusko, Johanna M JM; Tiensuu, Heli H; Haapalainen, Antti M AM; Pasanen, Anu A; Tissarinen, Pinja P; Karjalainen, Minna K MK; Zhang, Ge G; Christensen, Kaare K; Ryckman, Kelli K KK; Jacobsson, Bo B; Murray, Jeffrey C JC; Kingsmore, Stephen F SF; Hallman, Mikko M; Muglia, Louis J LJ; Rämet, Mika M

Publication Date: 2021-08-24

Variant appearance in text: rs34620296

PubMed Link: 34429451

Variant Present in the following documents:

• Main text
• 41598_2021_Article_96374.pdf

View BVdb publication page

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Spontaneous preterm birth: the underpinnings in the maternal and fetal genomes.

Npj Genomic Medicine

Bhattacharjee, Esha E; Maitra, Arindam A

Publication Date: 2021-06-08

Variant appearance in text: HSPA1L: Ala268Thr; rs34620296

PubMed Link: 34103530

Variant Present in the following documents:

• Main text
• 41525_2021_Article_209.pdf

View BVdb publication page

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The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.

Genomics, Proteomics & Bioinformatics

Sun, Jing J; Zhang, Yanfang Y; Wang, Minhui M; Guan, Qian Q; Yang, Xiujia X; Ou, Jin Xia JX; Yan, Mingchen M; Wang, Chengrui C; Zhang, Yan Y; Li, Zhi-Hao ZH; Lan, Chunhong C; Mao, Chen C; Zhou, Hong-Wei HW; Hao, Bingtao B; Zhang, Zhenhai Z

Publication Date: 2020-10

Variant appearance in text: HSPA1L: 802G>A; Ala268Thr

PubMed Link: 32827758

Variant Present in the following documents:

• mmc12.xlsx, sheet 1

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: HSPA1L: A268T

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 46
• 13073_2019_654_MOESM2_ESM.xlsx, sheet 15

View BVdb publication page

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Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth.

Plos Genetics

Huusko, Johanna M JM; Karjalainen, Minna K MK; Graham, Britney E BE; Zhang, Ge G; Farrow, Emily G EG; Miller, Neil A NA; Jacobsson, Bo B; Eidem, Haley R HR; Murray, Jeffrey C JC; Bedell, Bruce B; Breheny, Patrick P; Brown, Noah W NW; Bødker, Frans L FL; Litterman, Nadia K NK; Jiang, Pan-Pan PP; Russell, Laura L; Hinds, David A DA; Hu, Youna Y; , ; Rokas, Antonis A; Teramo, Kari K; Christensen, Kaare K; Williams, Scott M SM; Rämet, Mika M; Kingsmore, Stephen F SF; Ryckman, Kelli K KK; Hallman, Mikko M; Muglia, Louis J LJ

Publication Date: 2018-07

Variant appearance in text: HSPA1L: Ala268Thr; rs34620296

PubMed Link: 30001343

Variant Present in the following documents:

• Main text
• pgen.1007394.pdf

View BVdb publication page

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Concurrent action of purifying selection and gene conversion results in extreme conservation of the major stress-inducible Hsp70 genes in mammals.

Scientific Reports

Hess, Kyle K; Oliverio, Ryan R; Nguyen, Peter P; Le, Dat D; Ellis, Jacqueline J; Kdeiss, Brianna B; Ord, Sara S; Chalkia, Dimitra D; Nikolaidis, Nikolas N

Publication Date: 2018-03-23

Variant appearance in text: rs34620296

PubMed Link: 29572464

Variant Present in the following documents:

• 41598_2018_23508_MOESM1_ESM.pdf

View BVdb publication page

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De novo and rare mutations in the HSPA1L heat shock gene associated with inflammatory bowel disease.

Genome Medicine

Takahashi, Shinichi S; Andreoletti, Gaia G; Chen, Rui R; Munehira, Yoichi Y; Batra, Akshay A; Afzal, Nadeem A NA; Beattie, R Mark RM; Bernstein, Jonathan A JA; Ennis, Sarah S; Snyder, Michael M

Publication Date: 2017-01-26

Variant appearance in text: HSPA1L: 802G>A; Ala268Thr; rs34620296

PubMed Link: 28126021

Variant Present in the following documents:

• Main text
• 13073_2016_Article_394.pdf

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: HSPA1L: 802G>A; A268T; rs34620296

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

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: rs34620296

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: HSPA1L: A268T

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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A probabilistic model to predict clinical phenotypic traits from genome sequencing.

Plos Computational Biology

Chen, Yun-Ching YC; Douville, Christopher C; Wang, Cheng C; Niknafs, Noushin N; Yeo, Grace G; Beleva-Guthrie, Violeta V; Carter, Hannah H; Stenson, Peter D PD; Cooper, David N DN; Li, Biao B; Mooney, Sean S; Karchin, Rachel R

Publication Date: 2014-09

Variant appearance in text: HSPA1L: A268T

PubMed Link: 25188385

Variant Present in the following documents:

• pcbi.1003825.s014.xlsx, sheet 1

View BVdb publication page

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: HSPA1L: A268T

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

View BVdb publication page

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Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: rs34620296

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

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