Publications:

---

Integrated Whole-Exome and Transcriptome Sequencing Indicated Dysregulation of Cholesterol Metabolism in Eyelid Sebaceous Gland Carcinoma.

Translational Vision Science & Technology

Wang, Yuchuan Y; Li, Jun J; Hao, Peng P; Li, Jing J; Han, Ruifang R; Lin, Jinyong J; Li, Xuan X

Publication Date: 2023-02-01

Variant appearance in text: TAT: V138I; rs182191343

PubMed Link: 36735267

Variant Present in the following documents:

• tvst-12-2-4_s001.xls, sheet 7

View BVdb publication page

---

Immunosuppression broadens evolutionary pathways to drug resistance and treatment failure during Acinetobacter baumannii pneumonia in mice.

Nature Microbiology

Huo, Wenwen W; Busch, Lindsay M LM; Hernandez-Bird, Juan J; Hamami, Efrat E; Marshall, Christopher W CW; Geisinger, Edward E; Cooper, Vaughn S VS; van Opijnen, Tim T; Rosch, Jason W JW; Isberg, Ralph R RR

Publication Date: 2022-06

Variant appearance in text: TAT: V138I

PubMed Link: 35618774

Variant Present in the following documents:

• 41564_2022_1126_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

---

Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: TAT: V138I

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

---

Genetic dynamics in untreated CLL patients with either stable or progressive disease: a longitudinal study.

Journal Of Hematology & Oncology

Ramassone, Alice A; D'Argenio, Andrea A; Veronese, Angelo A; Basti, Alessio A; Soliman, Shimaa Hassan AbdelAziz SHA; Volinia, Stefano S; Bassi, Cristian C; Pagotto, Sara S; Ferracin, Manuela M; Lupini, Laura L; Saccenti, Elena E; Balatti, Veronica V; Pepe, Felice F; Rassenti, Laura Z LZ; Innocenti, Idanna I; Autore, Francesco F; Marzetti, Laura L; Mariani-Costantini, Renato R; Kipps, Thomas J TJ; Negrini, Massimo M; Laurenti, Luca L; Visone, Rosa R

Publication Date: 2019-11-19

Variant appearance in text: TAT: 412G>A

PubMed Link: 31744508

Variant Present in the following documents:

• 13045_2019_802_MOESM6_ESM.xlsx, sheet 3

View BVdb publication page

---

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications

Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H

Publication Date: 2019-09-12

Variant appearance in text: TAT: 412G>A; V138I; rs182191343

PubMed Link: 31515488

Variant Present in the following documents:

• 41467_2019_11959_MOESM11_ESM.xlsx, sheet 1
• 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

---

Role of MYOC and OPTN sequence variations in Spanish patients with primary open-angle glaucoma.

Molecular Vision

Lopez-Martinez, Francisco F; Lopez-Garrido, Maria-Pilar MP; Sanchez-Sanchez, Francisco F; Campos-Mollo, Ezequiel E; Coca-Prados, Miguel M; Escribano, Julio J

Publication Date: 2007-06-14

Variant appearance in text: TAT: 412G>A

PubMed Link: 17615537

Variant Present in the following documents:

• Main text
• mv-v13-862.pdf

View BVdb publication page

---