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: TG: 82G>A; A28T

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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Recapitulating thyroid cancer histotypes through engineering embryonic stem cells.

Nature Communications

Veschi, Veronica V; Turdo, Alice A; Modica, Chiara C; Verona, Francesco F; Di Franco, Simone S; Gaggianesi, Miriam M; Tirrò, Elena E; Di Bella, Sebastiano S; Iacono, Melania Lo ML; Pantina, Vincenzo Davide VD; Porcelli, Gaetana G; Mangiapane, Laura Rosa LR; Bianca, Paola P; Rizzo, Aroldo A; Sciacca, Elisabetta E; Pillitteri, Irene I; Vella, Veronica V; Belfiore, Antonino A; Bongiorno, Maria Rita MR; Pistone, Giuseppe G; Memeo, Lorenzo L; Colarossi, Lorenzo L; Giuffrida, Dario D; Colarossi, Cristina C; Vigneri, Paolo P; Todaro, Matilde M; Stassi, Giorgio G

Publication Date: 2023-03-11

Variant appearance in text: TG: A28T

PubMed Link: 36906579

Variant Present in the following documents:

• 41467_2023_36922_MOESM4_ESM.xls, sheet 2

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: TG: 82G>A; Ala28Thr

PubMed Link: 36869137

Variant Present in the following documents:

• 42003_2023_4582_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Proteogenomic characterization of MiT family translocation renal cell carcinoma.

Nature Communications

Qu, Yuanyuan Y; Wu, Xiaohui X; Anwaier, Aihetaimujiang A; Feng, Jinwen J; Xu, Wenhao W; Pei, Xiaoru X; Zhu, Yu Y; Liu, Yang Y; Bai, Lin L; Yang, Guojian G; Tian, Xi X; Su, Jiaqi J; Shi, Guo-Hai GH; Cao, Da-Long DL; Xu, Fujiang F; Wang, Yue Y; Gan, Hua-Lei HL; Ni, Shujuan S; Sun, Meng-Hong MH; Zhao, Jian-Yuan JY; Zhang, Hailiang H; Ye, Dingwei D; Ding, Chen C

Publication Date: 2022-12-05

Variant appearance in text: TG: Ala28Thr

PubMed Link: 36470859

Variant Present in the following documents:

• 41467_2022_34460_MOESM5_ESM.xlsx, sheet 2

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: TG: 82G>A; Ala28Thr

PubMed Link: 36271293

Variant Present in the following documents:

• 42003_2022_4087_MOESM4_ESM.xlsx, sheet 4
• 42003_2022_4087_MOESM4_ESM.xlsx, sheet 7
• 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: TG: 82G>A; A28T

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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Reversal of viral and epigenetic HLA class I repression in Merkel cell carcinoma.

The Journal Of Clinical Investigation

Lee, Patrick C PC; Klaeger, Susan S; Le, Phuong M PM; Korthauer, Keegan K; Cheng, Jingwei J; Ananthapadmanabhan, Varsha V; Frost, Thomas C TC; Stevens, Jonathan D JD; Wong, Alan Yl AY; Iorgulescu, J Bryan JB; Tarren, Anna Y AY; Chea, Vipheaviny A VA; Carulli, Isabel P IP; Lemvigh, Camilla K CK; Pedersen, Christina B CB; Gartin, Ashley K AK; Sarkizova, Siranush S; Wright, Kyle T KT; Li, Letitia W LW; Nomburg, Jason J; Li, Shuqiang S; Huang, Teddy T; Liu, Xiaoxi X; Pomerance, Lucas L; Doherty, Laura M LM; Apffel, Annie M AM; Wallace, Luke J LJ; Rachimi, Suzanna S; Felt, Kristen D KD; Wolff, Jacquelyn O JO; Witten, Elizabeth E; Zhang, Wandi W; Neuberg, Donna D; Lane, William J WJ; Zhang, Guanglan G; Olsen, Lars R LR; Thakuria, Manisha M; Rodig, Scott J SJ; Clauser, Karl R KR; Starrett, Gabriel J GJ; Doench, John G JG; Buhrlage, Sara J SJ; Carr, Steven A SA; DeCaprio, James A JA; Wu, Catherine J CJ; Keskin, Derin B DB

Publication Date: 2022-07-01

Variant appearance in text: TG: 82G>A

PubMed Link: 35775490

Variant Present in the following documents:

• jci-132-151666-s195.xlsx, sheet 2

View BVdb publication page

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Genomic characterization between strains selected for death-feigning duration for avoiding attack of a beetle.

Scientific Reports

Tanaka, Keisuke K; Sasaki, Ken K; Matsumura, Kentarou K; Yajima, Shunsuke S; Miyatake, Takahisa T

Publication Date: 2021-11-08

Variant appearance in text: TG: 82G>A

PubMed Link: 34750398

Variant Present in the following documents:

• 41598_2021_987_MOESM1_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: TG: 82G>A; Ala28Thr

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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Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Moore, Bryn S BS; Luo, Jonathan Z JZ; Stepanchick, Ann N AN; Mirshahi, Tooraj T

Publication Date: 2021-12

Variant appearance in text: TG: Ala28Thr

PubMed Link: 34326492

Variant Present in the following documents:

• NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1
• NIHMS1754145-supplement-Supplemental_Table_3.xlsx, sheet 1

View BVdb publication page

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Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Moore, Bryn S BS; Luo, Jonathan Z JZ; Stepanchick, Ann N AN; Mirshahi, Tooraj T

Publication Date: 2021-12

Variant appearance in text: TG: Ala28Thr

PubMed Link: 34326492

Variant Present in the following documents:

• NIHMS1754145-supplement-Supplemental_Table_3.xlsx, sheet 1
• NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1

View BVdb publication page

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Genomics of an endemic cystic fibrosis Burkholderia multivorans strain reveals low within-patient evolution but high between-patient diversity.

Plos Pathogens

Lood, Cédric C; Peeters, Charlotte C; Lamy-Besnier, Quentin Q; Wagemans, Jeroen J; De Vos, Daniel D; Proesmans, Marijke M; Pirnay, Jean-Paul JP; Echahidi, Fedoua F; Piérard, Denis D; Thimmesch, Matthieu M; Boeras, Anca A; Lagrou, Katrien K; De Canck, Evelien E; De Wachter, Elke E; van Noort, Vera V; Lavigne, Rob R; Vandamme, Peter P

Publication Date: 2021-03

Variant appearance in text: TG: 82G>A; Ala28Thr

PubMed Link: 33720991

Variant Present in the following documents:

• ppat.1009418.s005.xlsx, sheet 9

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: TG: 82G>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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YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications

Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T

Publication Date: 2020-01-03

Variant appearance in text: TG: A28T

PubMed Link: 31900393

Variant Present in the following documents:

• 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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The ERBB-STAT3 Axis Drives Tasmanian Devil Facial Tumor Disease.

Cancer Cell

Kosack, Lindsay L; Wingelhofer, Bettina B; Popa, Alexandra A; Orlova, Anna A; Agerer, Benedikt B; Vilagos, Bojan B; Majek, Peter P; Parapatics, Katja K; Lercher, Alexander A; Ringler, Anna A; Klughammer, Johanna J; Smyth, Mark M; Khamina, Kseniya K; Baazim, Hatoon H; de Araujo, Elvin D ED; Rosa, David A DA; Park, Jisung J; Tin, Gary G; Ahmar, Siawash S; Gunning, Patrick T PT; Bock, Christoph C; Siddle, Hannah V HV; Woods, Gregory M GM; Kubicek, Stefan S; Murchison, Elizabeth P EP; Bennett, Keiryn L KL; Moriggl, Richard R; Bergthaler, Andreas A

Publication Date: 2019-01-14

Variant appearance in text: TG: 82G>A

PubMed Link: 30645971

Variant Present in the following documents:

• mmc5.xlsx, sheet 2

View BVdb publication page

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: TG: 82G>A

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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Integrating genomic alterations in diffuse large B-cell lymphoma identifies new relevant pathways and potential therapeutic targets.

Leukemia

Karube, K K; Enjuanes, A A; Dlouhy, I I; Jares, P P; Martin-Garcia, D D; Nadeu, F F; Ordóñez, G R GR; Rovira, J J; Clot, G G; Royo, C C; Navarro, A A; Gonzalez-Farre, B B; Vaghefi, A A; Castellano, G G; Rubio-Perez, C C; Tamborero, D D; Briones, J J; Salar, A A; Sancho, J M JM; Mercadal, S S; Gonzalez-Barca, E E; Escoda, L L; Miyoshi, H H; Ohshima, K K; Miyawaki, K K; Kato, K K; Akashi, K K; Mozos, A A; Colomo, L L; Alcoceba, M M; Valera, A A; Carrió, A A; Costa, D D; Lopez-Bigas, N N; Schmitz, R R; Staudt, L M LM; Salaverria, I I; López-Guillermo, A A; Campo, E E

Publication Date: 2018-03

Variant appearance in text: TG: 82G>A

PubMed Link: 28804123

Variant Present in the following documents:

• leu2017251x2.xlsx, sheet 4

View BVdb publication page

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Comparative Genomics of Two Sequential Candida glabrata Clinical Isolates.

G3 (Bethesda, Md.)

Vale-Silva, Luis L; Beaudoing, Emmanuel E; Tran, Van Du T VDT; Sanglard, Dominique D

Publication Date: 2017-08-07

Variant appearance in text: TG: 82G>A; Ala28Thr

PubMed Link: 28663342

Variant Present in the following documents:

• 2413FileS2.xlsx, sheet 1

View BVdb publication page

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Whole-Genome Resequencing Identifies the Molecular Genetic Cause for the Absence of a Gy5 Glycinin Protein in Soybean PI 603408.

G3 (Bethesda, Md.)

Gillman, Jason D JD; Kim, Won-Seok WS; Song, Bo B; Oehrle, Nathan W NW; Tawari, Nilesh R NR; Liu, Shanshan S; Krishnan, Hari B HB

Publication Date: 2017-07-05

Variant appearance in text: TG: Ala28Thr

PubMed Link: 28592556

Variant Present in the following documents:

• 2345FileS1.xlsx, sheet 1

View BVdb publication page

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Landscape of genomic diversity and host adaptation in Fusarium graminearum.

Bmc Genomics

Laurent, Benoit B; Moinard, Magalie M; Spataro, Cathy C; Ponts, Nadia N; Barreau, Christian C; Foulongne-Oriol, Marie M

Publication Date: 2017-02-23

Variant appearance in text: TG: 82G>A

PubMed Link: 28231761

Variant Present in the following documents:

• 12864_2017_3524_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Structure-guided sequence specificity engineering of the modification-dependent restriction endonuclease LpnPI.

Nucleic Acids Research

Sasnauskas, Giedrius G; Zagorskaitė, Evelina E; Kauneckaitė, Kotryna K; Tamulaitiene, Giedre G; Siksnys, Virginijus V

Publication Date: 2015-07-13

Variant appearance in text: TG: A28T

PubMed Link: 26001968

Variant Present in the following documents:

• Main text
• gkv548.pdf

View BVdb publication page

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Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Nature Communications

Witkiewicz, Agnieszka K AK; McMillan, Elizabeth A EA; Balaji, Uthra U; Baek, GuemHee G; Lin, Wan-Chi WC; Mansour, John J; Mollaee, Mehri M; Wagner, Kay-Uwe KU; Koduru, Prasad P; Yopp, Adam A; Choti, Michael A MA; Yeo, Charles J CJ; McCue, Peter P; White, Michael A MA; Knudsen, Erik S ES

Publication Date: 2015-04-09

Variant appearance in text: TG: A28T

PubMed Link: 25855536

Variant Present in the following documents:

• ncomms7744-s2.xlsx, sheet 1

View BVdb publication page

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Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (ELANE) mutation.

Annals Of Hematology

van de Vosse, Esther E; Verhard, Els M EM; Tool, Anton J T AJ; de Visser, Adriëtte W AW; Kuijpers, Taco W TW; Hiemstra, Pieter S PS; van Dissel, Jaap T JT

Publication Date: 2011-02

Variant appearance in text: TG: A28T

PubMed Link: 20803142

Variant Present in the following documents:

• 277_2010_Article_1056.pdf

View BVdb publication page

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