Publications:

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: 225: 175G>A

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Monitoring of the SARS-CoV-2 Omicron BA.1/BA.2 lineage transition in the Swedish population reveals increased viral RNA levels in BA.2 cases.

Med (New York, N.Y.)

Lentini, Antonio A; Pereira, Antonio A; Winqvist, Ola O; Reinius, Björn B

Publication Date: 2022-09-09

Variant appearance in text: 225: G59S

PubMed Link: 35981541

Variant Present in the following documents:

• mmc7.xlsx, sheet 1

View BVdb publication page

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Transmission, Strain Diversity, and Zoonotic Potential of Chronic Wasting Disease.

Viruses

Pritzkow, Sandra S

Publication Date: 2022-06-25

Variant appearance in text: 225: G59S

PubMed Link: 35891371

Variant Present in the following documents:

• viruses-14-01390.pdf

View BVdb publication page

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Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications

Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A

Publication Date: 2022-07-13

Variant appearance in text: 225: 175G>A

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

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TK216 targets microtubules in Ewing sarcoma cells.

Cell Chemical Biology

Povedano, Juan Manuel JM; Li, Vicky V; Lake, Katherine E KE; Bai, Xin X; Rallabandi, Rameshu R; Kim, Jiwoong J; Xie, Yang Y; De Brabander, Jef K JK; McFadden, David G DG

Publication Date: 2022-08-18

Variant appearance in text: 225: 175G>A

PubMed Link: 35803262

Variant Present in the following documents:

• mmc2.xlsx, sheet 2

View BVdb publication page

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Review on PRNP genetics and susceptibility to chronic wasting disease of Cervidae.

Veterinary Research

Moazami-Goudarzi, Katayoun K; Andréoletti, Olivier O; Vilotte, Jean-Luc JL; Béringue, Vincent V

Publication Date: 2021-10-07

Variant appearance in text: 225: G59S

PubMed Link: 34620247

Variant Present in the following documents:

• Main text
• 13567_2021_Article_993.pdf

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: 225: 175G>A

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3

View BVdb publication page

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K-Ras-Activated Cells Can Develop into Lung Tumors When Runx3-Mediated Tumor Suppressor Pathways Are Abrogated.

Molecules And Cells

Lee, You-Soub YS; Lee, Ja-Yeol JY; Song, Soo-Hyun SH; Kim, Da-Mi DM; Lee, Jung-Won JW; Chi, Xin-Zi XZ; Ito, Yoshiaki Y; Bae, Suk-Chul SC

Publication Date: 2020-10-31

Variant appearance in text: 225: 175G>A

PubMed Link: 33115981

Variant Present in the following documents:

• molce-43-889_Supple.xlsx, sheet 1

View BVdb publication page

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Identification of Single Nucleotide Polymorphism in Red Clover (Trifolium pratense L.) Using Targeted Genomic Amplicon Sequencing and RNA-seq.

Frontiers In Plant Science

Li, Wenli W; Riday, Heathcliffe H; Riehle, Christina C; Edwards, Andrea A; Dinkins, Randy R

Publication Date: 2019

Variant appearance in text: 225: 175G>A

PubMed Link: 31708937

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 1

View BVdb publication page

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Transcriptomic signature reveals mechanism of flower bud distortion in witches'-broom disease of soybean (Glycine max).

Bmc Plant Biology

Jaiswal, Sarika S; Jadhav, Pravin V PV; Jasrotia, Rahul Singh RS; Kale, Prashant B PB; Kad, Snehal K SK; Moharil, Mangesh P MP; Dudhare, Mahendra S MS; Kheni, Jashminkumar J; Deshmukh, Amit G AG; Mane, Shyamsundar S SS; Nandanwar, Ravindra S RS; Penna, Suprasanna S; Manjaya, Joy G JG; Iquebal, Mir Asif MA; Tomar, Rukam Singh RS; Kawar, Prashant G PG; Rai, Anil A; Kumar, Dinesh D

Publication Date: 2019-01-15

Variant appearance in text: 225: 175G>A

PubMed Link: 30646861

Variant Present in the following documents:

• 12870_2018_1601_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Mutational processes shape the landscape of TP53 mutations in human cancer.

Nature Genetics

Giacomelli, Andrew O AO; Yang, Xiaoping X; Lintner, Robert E RE; McFarland, James M JM; Duby, Marc M; Kim, Jaegil J; Howard, Thomas P TP; Takeda, David Y DY; Ly, Seav Huong SH; Kim, Eejung E; Gannon, Hugh S HS; Hurhula, Brian B; Sharpe, Ted T; Goodale, Amy A; Fritchman, Briana B; Steelman, Scott S; Vazquez, Francisca F; Tsherniak, Aviad A; Aguirre, Andrew J AJ; Doench, John G JG; Piccioni, Federica F; Roberts, Charles W M CWM; Meyerson, Matthew M; Getz, Gad G; Johannessen, Cory M CM; Root, David E DE; Hahn, William C WC

Publication Date: 2018-10

Variant appearance in text: 225: G59S

PubMed Link: 30224644

Variant Present in the following documents:

• NIHMS1501645-supplement-4.xlsx, sheet 1

View BVdb publication page

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The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.

Nature Communications

Inman, Gareth J GJ; Wang, Jun J; Nagano, Ai A; Alexandrov, Ludmil B LB; Purdie, Karin J KJ; Taylor, Richard G RG; Sherwood, Victoria V; Thomson, Jason J; Hogan, Sarah S; Spender, Lindsay C LC; South, Andrew P AP; Stratton, Michael M; Chelala, Claude C; Harwood, Catherine A CA; Proby, Charlotte M CM; Leigh, Irene M IM

Publication Date: 2018-09-10

Variant appearance in text: 225: G59S

PubMed Link: 30202019

Variant Present in the following documents:

• 41467_2018_6027_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Integrated genomic and metabolomic profiling of ISC1, an emerging Leishmania donovani population in the Indian subcontinent.

Infection, Genetics And Evolution : Journal Of Molecular Epidemiology And Evolutionary Genetics In Infectious Diseases

Cuypers, Bart B; Berg, Maya M; Imamura, Hideo H; Dumetz, Franck F; De Muylder, Géraldine G; Domagalska, Malgorzata A MA; Rijal, Suman S; Bhattarai, Narayan Raj NR; Maes, Ilse I; Sanders, Mandy M; Cotton, James A JA; Meysman, Pieter P; Laukens, Kris K; Dujardin, Jean-Claude JC

Publication Date: 2018-08

Variant appearance in text: 225: 175G>A

PubMed Link: 29679745

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Variant discovery in the sheep milk transcriptome using RNA sequencing.

Bmc Genomics

Suárez-Vega, Aroa A; Gutiérrez-Gil, Beatriz B; Klopp, Christophe C; Tosser-Klopp, Gwenola G; Arranz, Juan José JJ

Publication Date: 2017-02-15

Variant appearance in text: 225: 175G>A

PubMed Link: 28202015

Variant Present in the following documents:

• 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Comprehensive mutation analysis in colorectal flat adenomas.

Plos One

Voorham, Quirinus J M QJ; Carvalho, Beatriz B; Spiertz, Angela J AJ; Claes, Bart B; Mongera, Sandra S; van Grieken, Nicole C T NC; Grabsch, Heike H; Kliment, Martin M; Rembacken, Bjorn B; van de Wiel, Mark A MA; Quirke, Philip P; Mulder, Chris J J CJ; Lambrechts, Diether D; van Engeland, Manon M; Meijer, Gerrit A GA

Publication Date: 2012

Variant appearance in text: 225: 175G>A

PubMed Link: 22848674

Variant Present in the following documents:

View BVdb publication page

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Genetic variability of the prion protein gene (PRNP) in wild ruminants from Italy and Scotland.

Journal Of Veterinary Science

Peletto, Simone S; Perucchini, Matteo M; Acín, Cristina C; Dalgleish, Mark P MP; Reid, Hugh W HW; Rasero, Roberto R; Sacchi, Paola P; Stewart, Paula P; Caramelli, Maria M; Ferroglio, Ezio E; Bozzetta, Elena E; Meloni, Daniela D; Orusa, Riccardo R; Robetto, Serena S; Gennero, Silvia S; Goldmann, Wilfred W; Acutis, Pier Luigi PL

Publication Date: 2009-06

Variant appearance in text: 225: G59S

PubMed Link: 19461206

Variant Present in the following documents:

• Main text
• jvs-10-115.pdf

View BVdb publication page

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