Publications:

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HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology

Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G

Publication Date: 2023-04-22

Variant appearance in text: GC: 373G>A; A125T

PubMed Link: 37087497

Variant Present in the following documents:

• 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Rickettsia felis DNA recovered from a child who lived in southern Africa 2000 years ago.

Communications Biology

Rifkin, Riaan F RF; Vikram, Surendra S; Alcorta, Jaime J; Ramond, Jean-Baptiste JB; Cowan, Don A DA; Jakobsson, Mattias M; Schlebusch, Carina M CM; Lombard, Marlize M

Publication Date: 2023-03-03

Variant appearance in text: GC: 373G>A

PubMed Link: 36869137

Variant Present in the following documents:

• 42003_2023_4582_MOESM4_ESM.xlsx, sheet 10
• 42003_2023_4582_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Genomic evolution towards azole resistance in Candida glabrata clinical isolates unveils the importance of CgHxt4/6/7 in azole accumulation.

Communications Biology

Galocha, Mónica M; Viana, Romeu R; Pais, Pedro P; Silva-Dias, Ana A; Cavalheiro, Mafalda M; Miranda, Isabel M IM; Van Ende, Mieke M; Souza, Caio S CS; Costa, Catarina C; Branco, Joana J; Soares, Cláudio M CM; Van Dijck, Patrick P; Rodrigues, Acácio G AG; Teixeira, Miguel C MC

Publication Date: 2022-10-21

Variant appearance in text: GC: 373G>A; Ala125Thr

PubMed Link: 36271293

Variant Present in the following documents:

• 42003_2022_4087_MOESM4_ESM.xlsx, sheet 7
• 42003_2022_4087_MOESM4_ESM.xlsx, sheet 4
• 42003_2022_4087_MOESM4_ESM.xlsx, sheet 8
• 42003_2022_4087_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

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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: GC: 373G>A; A125T

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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Astaxanthin and eicosapentaenoic acid production by S4, a new mutant strain of Nannochloropsis gaditana.

Microbial Cell Factories

Cecchin, Michela M; Cazzaniga, Stefano S; Martini, Flavio F; Paltrinieri, Stefania S; Bossi, Simone S; Maffei, Massimo E ME; Ballottari, Matteo M

Publication Date: 2022-06-16

Variant appearance in text: GC: 373G>A

PubMed Link: 35710482

Variant Present in the following documents:

• 12934_2022_1847_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer.

Nature Cancer

Westcott, Peter M K PMK; Sacks, Nathan J NJ; Schenkel, Jason M JM; Ely, Zackery A ZA; Smith, Olivia O; Hauck, Haley H; Jaeger, Alex M AM; Zhang, Daniel D; Backlund, Coralie M CM; Beytagh, Mary C MC; Patten, J J JJ; Elbashir, Ryan R; Eng, George G; Irvine, Darrell J DJ; Yilmaz, Omer H OH; Jacks, Tyler T

Publication Date: 2021-10

Variant appearance in text: GC: 373G>A; Ala125Thr

PubMed Link: 34738089

Variant Present in the following documents:

• NIHMS1725490-supplement-Source_Data_Figure_1.xlsx, sheet 1

View BVdb publication page

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Glucocorticoid-induced osteonecrosis in systemic lupus erythematosus patients.

Clinical And Translational Medicine

Kaneko, Kaichi K; Chen, Hao H; Kaufman, Matthew M; Sverdlov, Isaak I; Stein, Emily M EM; Park-Min, Kyung-Hyun KH

Publication Date: 2021-10

Variant appearance in text: GC: A125T

PubMed Link: 34709753

Variant Present in the following documents:

• Main text
• CTM2-11-e526.pdf

View BVdb publication page

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Longitudinal analyses of CLL in mice identify leukemia-related clonal changes including a Myc gain predicting poor outcome in patients.

Leukemia

Öztürk, Selcen S; Paul, Yashna Y; Afzal, Saira S; Gil-Farina, Irene I; Jauch, Anna A; Bruch, Peter-Martin PM; Kalter, Verena V; Hanna, Bola B; Arseni, Lavinia L; Roessner, Philipp M PM; Schmidt, Manfred M; Stilgenbauer, Stephan S; Dietrich, Sascha S; Lichter, Peter P; Zapatka, Marc M; Seiffert, Martina M

Publication Date: 2022-02

Variant appearance in text: GC: A125T

PubMed Link: 34417556

Variant Present in the following documents:

• 41375_2021_1381_MOESM9_ESM.xlsx, sheet 1

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: GC: 373G>A

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

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: GC: 373G>A; Ala125Thr

PubMed Link: 33115981

Variant Present in the following documents:

• molce-43-889_Supple.xlsx, sheet 1

View BVdb publication page

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Gene testing for osteonecrosis of the femoral head in systemic lupus erythematosus using targeted next-generation sequencing: A pilot study.

World Journal Of Clinical Cases

Sun, Hong-Sheng HS; Yang, Qing-Rui QR; Bai, Yan-Yan YY; Hu, Nai-Wen NW; Liu, Dong-Xia DX; Qin, Cheng-Yong CY

Publication Date: 2020-06-26

Variant appearance in text: GC: 373G>A; A125T

PubMed Link: 32607330

Variant Present in the following documents:

• Main text
• WJCC-8-2530.pdf

View BVdb publication page

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Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities.

Nature Communications

Nichols, Caitlin A CA; Gibson, William J WJ; Brown, Meredith S MS; Kosmicki, Jack A JA; Busanovich, John P JP; Wei, Hope H; Urbanski, Laura M LM; Curimjee, Naomi N; Berger, Ashton C AC; Gao, Galen F GF; Cherniack, Andrew D AD; Dhe-Paganon, Sirano S; Paolella, Brenton R BR; Beroukhim, Rameen R

Publication Date: 2020-05-20

Variant appearance in text: GC: 373G>A

PubMed Link: 32433464

Variant Present in the following documents:

• 41467_2020_16399_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium.

Scientific Reports

Popp, Bernt B; Krumbiegel, Mandy M; Grosch, Janina J; Sommer, Annika A; Uebe, Steffen S; Kohl, Zacharias Z; Plötz, Sonja S; Farrell, Michaela M; Trautmann, Udo U; Kraus, Cornelia C; Ekici, Arif B AB; Asadollahi, Reza R; Regensburger, Martin M; Günther, Katharina K; Rauch, Anita A; Edenhofer, Frank F; Winkler, Jürgen J; Winner, Beate B; Reis, André A

Publication Date: 2018-11-21

Variant appearance in text: GC: 373G>A; Ala125Thr

PubMed Link: 30464253

Variant Present in the following documents:

• 41598_2018_35506_MOESM5_ESM.xlsx, sheet 4

View BVdb publication page

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Human gastric cancer modelling using organoids.

Gut

Seidlitz, Therese T; Merker, Sebastian R SR; Rothe, Alexander A; Zakrzewski, Falk F; von Neubeck, Cläre C; Grützmann, Konrad K; Sommer, Ulrich U; Schweitzer, Christine C; Schölch, Sebastian S; Uhlemann, Heike H; Gaebler, Anne-Marlene AM; Werner, Kristin K; Krause, Mechthild M; Baretton, Gustavo B GB; Welsch, Thilo T; Koo, Bon-Kyoung BK; Aust, Daniela E DE; Klink, Barbara B; Weitz, Jürgen J; Stange, Daniel E DE

Publication Date: 2019-02

Variant appearance in text: GC: Ala125Thr

PubMed Link: 29703791

Variant Present in the following documents:

• gutjnl-2017-314549supp010.xlsx, sheet 3

View BVdb publication page

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Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: GC: 373G>A; A125T

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s003.xlsx, sheet 1
• oncotarget-08-99237-s002.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: GC: 373G>A; Ala125Thr

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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Response to angiotensin blockade with irbesartan in a patient with metastatic colorectal cancer.

Annals Of Oncology : Official Journal Of The European Society For Medical Oncology

Jones, M R MR; Schrader, K A KA; Shen, Y Y; Pleasance, E E; Ch'ng, C C; Dar, N N; Yip, S S; Renouf, D J DJ; Schein, J E JE; Mungall, A J AJ; Zhao, Y Y; Moore, R R; Ma, Y Y; Sheffield, B S BS; Ng, T T; Jones, S J M SJ; Marra, M A MA; Laskin, J J; Lim, H J HJ

Publication Date: 2016-05

Variant appearance in text: GC: A125T

PubMed Link: 27022066

Variant Present in the following documents:

• supp_mdw060_mdw060supp_table2.xlsx, sheet 3

View BVdb publication page

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: GC: A125T

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 2

View BVdb publication page

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: GC: 373G>A; A125T

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 1

View BVdb publication page

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A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget

Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2014-05-30

Variant appearance in text: GC: 373G>A

PubMed Link: 24913145

Variant Present in the following documents:

• oncotarget-05-2912-s003.xlsx, sheet 1

View BVdb publication page

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: GC: A125T

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

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Functional recurrent mutations in the human mitochondrial phylogeny: dual roles in evolution and disease.

Genome Biology And Evolution

Levin, Liron L; Zhidkov, Ilia I; Gurman, Yotam Y; Hawlena, Hadas H; Mishmar, Dan D

Publication Date: 2013

Variant appearance in text: GC: A125T

PubMed Link: 23563965

Variant Present in the following documents:

• Main text
• evt058.pdf

View BVdb publication page

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