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: 1054C>T

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: TG: 1054C>T

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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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: 1054C>T

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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Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Ebiomedicine

Wang, Tao T; Zhao, Tingting T; Liu, Liqiu L; Teng, Huajing H; Fan, Tianda T; Li, Yi Y; Wang, Yan Y; Li, Jinchen J; Xia, Kun K; Sun, Zhongsheng Z

Publication Date: 2022-07

Variant appearance in text: TG: 1054C>T; Q352X

PubMed Link: 35665681

Variant Present in the following documents:

• mmc26.xlsx, sheet 1

View BVdb publication page

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Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology

Li, Na N; Wang, Jiahong J; Zhan, Xianquan X

Publication Date: 2021

Variant appearance in text: TG: 1054C>T

PubMed Link: 34887858

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

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Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)

Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI

Publication Date: 2020

Variant appearance in text: TG: 1054C>T

PubMed Link: 34541464

Variant Present in the following documents:

• cdr-3-959-SupplementaryMaterials.xlsx, sheet 5

View BVdb publication page

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Haplotype-resolved de novo assembly of the Vero cell line genome.

Npj Vaccines

Sène, Marie-Angélique MA; Kiesslich, Sascha S; Djambazian, Haig H; Ragoussis, Jiannis J; Xia, Yu Y; Kamen, Amine A AA

Publication Date: 2021-08-20

Variant appearance in text: TG: 1054C>T; Gln352*

PubMed Link: 34417462

Variant Present in the following documents:

• 41541_2021_358_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Not all mitochondrial DNAs are made equal and the nucleus knows it.

Iubmb Life

Lechuga-Vieco, Ana Victoria AV; Justo-Méndez, Raquel R; Enríquez, José Antonio JA

Publication Date: 2021-03

Variant appearance in text: TG: Q352X

PubMed Link: 33369015

Variant Present in the following documents:

• IUB-73-511.pdf

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: TG: 1054C>T

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

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: TG: 1054C>T; Q352*

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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Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

Nature Genetics

Jin, Sheng Chih SC; Homsy, Jason J; Zaidi, Samir S; Lu, Qiongshi Q; Morton, Sarah S; DePalma, Steven R SR; Zeng, Xue X; Qi, Hongjian H; Chang, Weni W; Sierant, Michael C MC; Hung, Wei-Chien WC; Haider, Shozeb S; Zhang, Junhui J; Knight, James J; Bjornson, Robert D RD; Castaldi, Christopher C; Tikhonoa, Irina R IR; Bilguvar, Kaya K; Mane, Shrikant M SM; Sanders, Stephan J SJ; Mital, Seema S; Russell, Mark W MW; Gaynor, J William JW; Deanfield, John J; Giardini, Alessandro A; Porter, George A GA; Srivastava, Deepak D; Lo, Cecelia W CW; Shen, Yufeng Y; Watkins, W Scott WS; Yandell, Mark M; Yost, H Joseph HJ; Tristani-Firouzi, Martin M; Newburger, Jane W JW; Roberts, Amy E AE; Kim, Richard R; Zhao, Hongyu H; Kaltman, Jonathan R JR; Goldmuntz, Elizabeth E; Chung, Wendy K WK; Seidman, Jonathan G JG; Gelb, Bruce D BD; Seidman, Christine E CE; Lifton, Richard P RP; Brueckner, Martina M

Publication Date: 2017-11

Variant appearance in text: TG: Q352X

PubMed Link: 28991257

Variant Present in the following documents:

• NIHMS906719-supplement-supp_datasets.xlsx, sheet 8

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: 1054C>T

PubMed Link: 28663342

Variant Present in the following documents:

• 2413FileS2.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: 1054C>T

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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Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates.

Prenatal Diagnosis

Lazarin, Gabriel A GA; Haque, Imran S IS; Evans, Eric A EA; Goldberg, James D JD

Publication Date: 2017-04

Variant appearance in text: TG: 1054C>T

PubMed Link: 28166604

Variant Present in the following documents:

• Main text
• PD-37-350.pdf

View BVdb publication page

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