Publications:

---

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: 664C>A

PubMed Link: 37087497

Variant Present in the following documents:

• 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

---

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: 664C>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 8

View BVdb publication page

---

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: GC: Gln222Lys

PubMed Link: 36470859

Variant Present in the following documents:

• 41467_2022_34460_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

---

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: 664C>A; Q222K

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

Novel Polymorphisms and Genetic Characteristics of the Prion Protein Gene in Pheasants.

Frontiers In Veterinary Science

Kim, Kyung Han KH; Kim, Yong-Chan YC; Jeong, Byung-Hoon BH

Publication Date: 2022

Variant appearance in text: GC: Q222K

PubMed Link: 35903139

Variant Present in the following documents:

• fvets-09-935476.pdf

View BVdb publication page

---

Genetic Polymorphism at 15 Codons of the Prion Protein Gene in 156 Goats from Romania.

Genes

Gurau, Maria Rodica MR; Negru, Elena E; Ionescu, Teodor T; Udriste, Anca Amalia AA; Cornea, Călina Petruța CP; Baraitareanu, Stelian S

Publication Date: 2022-07-23

Variant appearance in text: GC: Q222K

PubMed Link: 35893054

Variant Present in the following documents:

• Main text
• genes-13-01316.pdf

View BVdb publication page

---

RT-QuIC detection of pathological prion protein in subclinical goats following experimental oral transmission of L-type BSE.

Bmc Research Notes

Favole, Alessandra A; Mazza, Maria M; D'Angelo, Antonio A; Lombardi, Guerino G; Palmitessa, Claudia C; Dell'Atti, Luana L; Cagnotti, Giulia G; Berrone, Elena E; Gallo, Marina M; Avanzato, Tiziana T; Messana, Erika E; Masoero, Loretta L; Acutis, Pier Luigi PL; Meloni, Daniela D; Cardone, Franco F; Caramelli, Maria M; Casalone, Cristina C; Corona, Cristiano C

Publication Date: 2021-12-07

Variant appearance in text: GC: Q222K

PubMed Link: 34876215

Variant Present in the following documents:

• Main text
• 13104_2021_Article_5859.pdf

View BVdb publication page

---

PRNP Polymorphisms in Eight Local Goat Populations/Breeds from Central and Southern Italy.

Animals : An Open Access Journal From Mdpi

Torricelli, Martina M; Sebastiani, Carla C; Ciullo, Marcella M; Ceccobelli, Simone S; Chiappini, Barbara B; Vaccari, Gabriele G; Capocefalo, Antonio A; Conte, Michela M; Giovannini, Samira S; Lasagna, Emiliano E; Sarti, Francesca Maria FM; Biagetti, Massimo M

Publication Date: 2021-01-28

Variant appearance in text: GC: Q222K

PubMed Link: 33525718

Variant Present in the following documents:

• Main text
• animals-11-00333.pdf

View BVdb publication page

---

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: 664C>A; Gln222Lys

PubMed Link: 33115981

Variant Present in the following documents:

• molce-43-889_Supple.xlsx, sheet 1

View BVdb publication page

---

High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Nature Medicine

Razavi, Pedram P; Li, Bob T BT; Brown, David N DN; Jung, Byoungsok B; Hubbell, Earl E; Shen, Ronglai R; Abida, Wassim W; Juluru, Krishna K; De Bruijn, Ino I; Hou, Chenlu C; Venn, Oliver O; Lim, Raymond R; Anand, Aseem A; Maddala, Tara T; Gnerre, Sante S; Vijaya Satya, Ravi R; Liu, Qinwen Q; Shen, Ling L; Eattock, Nicholas N; Yue, Jeanne J; Blocker, Alexander W AW; Lee, Mark M; Sehnert, Amy A; Xu, Hui H; Hall, Megan P MP; Santiago-Zayas, Angie A; Novotny, William F WF; Isbell, James M JM; Rusch, Valerie W VW; Plitas, George G; Heerdt, Alexandra S AS; Ladanyi, Marc M; Hyman, David M DM; Jones, David R DR; Morrow, Monica M; Riely, Gregory J GJ; Scher, Howard I HI; Rudin, Charles M CM; Robson, Mark E ME; Diaz, Luis A LA; Solit, David B DB; Aravanis, Alexander M AM; Reis-Filho, Jorge S JS

Publication Date: 2019-12

Variant appearance in text: GC: Gln222Lys

PubMed Link: 31768066

Variant Present in the following documents:

• NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 4

View BVdb publication page

---

Variation in the prion protein gene (PRNP) sequence of wild deer in Great Britain and mainland Europe.

Veterinary Research

Robinson, Amy L AL; Williamson, Helen H; Güere, Mariella E ME; Tharaldsen, Helene H; Baker, Karis K; Smith, Stephanie L SL; Pérez-Espona, Sílvia S; Krojerová-Prokešová, Jarmila J; Pemberton, Josephine M JM; Goldmann, Wilfred W; Houston, Fiona F

Publication Date: 2019-07-31

Variant appearance in text: GC: Q222K

PubMed Link: 31366372

Variant Present in the following documents:

• 13567_2019_Article_675.pdf

View BVdb publication page

---

The First Report of Polymorphisms and Genetic Features of the prion-like Protein Gene (PRND) in a Prion Disease-Resistant Animal, Dog.

International Journal Of Molecular Sciences

Won, Sae-Young SY; Kim, Yong-Chan YC; Kim, Kiwon K; Kim, An-Dang AD; Jeong, Byung-Hoon BH

Publication Date: 2019-03-20

Variant appearance in text: GC: Q222K

PubMed Link: 30897750

Variant Present in the following documents:

• Main text
• ijms-20-01404.pdf

View BVdb publication page

---

Prion protein gene variability in Spanish goats. Inference through susceptibility to classical scrapie strains and pathogenic distribution of peripheral PrP(sc.).

Plos One

Acín, Cristina C; Martín-Burriel, Inmaculada I; Monleón, Eva E; Lyahyai, Jaber J; Pitarch, José Luis JL; Serrano, Carmen C; Monzón, Marta M; Zaragoza, Pilar P; Badiola, Juan José JJ

Publication Date: 2013

Variant appearance in text: GC: Q222K

PubMed Link: 23580248

Variant Present in the following documents:

• pone.0061118.pdf

View BVdb publication page

---

Evaluation of MFRP as a candidate gene for high hyperopia.

Molecular Vision

Wang, Panfeng P; Yang, Zhikuan Z; Li, Shiqiang S; Xiao, Xueshan X; Guo, Xiangming X; Zhang, Qingjiong Q

Publication Date: 2009

Variant appearance in text: GC: 664C>A

PubMed Link: 19169412

Variant Present in the following documents:

• Main text

View BVdb publication page

---