Publications:

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NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.

Bmc Medical Genetics

Singh, Kanika K; Bijarnia-Mahay, Sunita S; Ramprasad, V L VL; Puri, Ratna Dua RD; Nair, Sandhya S; Sharda, Sheetal S; Saxena, Renu R; Kohli, Sudha S; Kulshreshtha, Samarth S; Ganguli, Indrani I; Gujral, Kanwal K; Verma, Ishwar C IC

Publication Date: 2020-11-02

Variant appearance in text: GAA: 223C>T

PubMed Link: 33138774

Variant Present in the following documents:

• 12881_2020_Article_1153.pdf

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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: GAA: 223C>T

PubMed Link: 33115981

Variant Present in the following documents:

• molce-43-889_Supple.xlsx, sheet 1

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Combining genetic crosses and pool targeted DNA-seq for untangling genomic variations associated with resistance to multiple insecticides in the mosquito Aedes aegypti.

Evolutionary Applications

Cattel, Julien J; Faucon, Frédéric F; Le Péron, Bastien B; Sherpa, Stéphanie S; Monchal, Marie M; Grillet, Lucie L; Gaude, Thierry T; Laporte, Frederic F; Dusfour, Isabelle I; Reynaud, Stéphane S; David, Jean-Philippe JP

Publication Date: 2020-02

Variant appearance in text: GAA: 223C>T

PubMed Link: 31993078

Variant Present in the following documents:

• EVA-13-303-s006.xlsx, sheet 1

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Integrative molecular profiling identifies a novel cluster of estrogen receptor-positive breast cancer in very young women.

Cancer Science

Park, Charny C; Yoon, Kyong-Ah KA; Kim, Jihyun J; Park, In Hae IH; Park, Soo Jin SJ; Kim, Min Kyeong MK; Jang, Wooyeong W; Cho, Soo Young SY; Park, Boyoung B; Kong, Sun-Young SY; Lee, Eun Sook ES

Publication Date: 2019-05

Variant appearance in text: GAA: P75S

PubMed Link: 30811755

Variant Present in the following documents:

• CAS-110-1760-s002.xlsx, sheet 2

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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: GAA: P75S

PubMed Link: 30224644

Variant Present in the following documents:

• NIHMS1501645-supplement-4.xlsx, sheet 1

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Molecular epidemiology of tuberculosis in Kaohsiung City located at southern Taiwan, 2000-2008.

Plos One

Chen, Yih-Yuan YY; Chang, Jia-Ru JR; Kuo, Shu-Chen SC; Tseng, Fan-Chen FC; Huang, Wei-Chen WC; Huang, Tsi-Shu TS; Chen, Yao-Shen YS; Chiueh, Tzong-Shi TS; Sun, Jun-Ren JR; Su, Ih-Jen IJ; Dou, Horng-Yunn HY

Publication Date: 2015

Variant appearance in text: GAA: P75S

PubMed Link: 25629610

Variant Present in the following documents:

• Main text
• pone.0117061.pdf

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Genome and phylogenetic analyses of Trypanosoma evansi reveal extensive similarity to T. brucei and multiple independent origins for dyskinetoplasty.

Plos Neglected Tropical Diseases

Carnes, Jason J; Anupama, Atashi A; Balmer, Oliver O; Jackson, Andrew A; Lewis, Michael M; Brown, Rob R; Cestari, Igor I; Desquesnes, Marc M; Gendrin, Claire C; Hertz-Fowler, Christiane C; Imamura, Hideo H; Ivens, Alasdair A; Kořený, Luděk L; Lai, De-Hua DH; MacLeod, Annette A; McDermott, Suzanne M SM; Merritt, Chris C; Monnerat, Severine S; Moon, Wonjong W; Myler, Peter P; Phan, Isabelle I; Ramasamy, Gowthaman G; Sivam, Dhileep D; Lun, Zhao-Rong ZR; Lukeš, Julius J; Stuart, Ken K; Schnaufer, Achim A

Publication Date: 2015-01

Variant appearance in text: GAA: Pro75Ser

PubMed Link: 25568942

Variant Present in the following documents:

• pntd.0003404.s019.xlsx, sheet 1

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