Publications:

---

Sequencing for germline mutations in Swedish breast cancer families reveals novel breast cancer risk genes.

Scientific Reports

Helgadottir, Hafdis T HT; Thutkawkorapin, Jessada J; Lagerstedt-Robinson, Kristina K; Lindblom, Annika A

Publication Date: 2021-07-19

Variant appearance in text: PKHD1: G448R; rs149781976

PubMed Link: 34282249

Variant Present in the following documents:

• 41598_2021_94316_MOESM1_ESM.xlsx, sheet 2
• 41598_2021_94316_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

---

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: PKHD1: 1342G>C; Gly448Arg; rs149781976

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

---

A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: PKHD1: 1342G>C; Gly448Arg

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

---

Targetable vulnerabilities in T- and NK-cell lymphomas identified through preclinical models.

Nature Communications

Ng, Samuel Y SY; Yoshida, Noriaki N; Christie, Amanda L AL; Ghandi, Mahmoud M; Dharia, Neekesh V NV; Dempster, Joshua J; Murakami, Mark M; Shigemori, Kay K; Morrow, Sara N SN; Van Scoyk, Alexandria A; Cordero, Nicolas A NA; Stevenson, Kristen E KE; Puligandla, Maneka M; Haas, Brian B; Lo, Christopher C; Meyers, Robin R; Gao, Galen G; Cherniack, Andrew A; Louissaint, Abner A; Nardi, Valentina V; Thorner, Aaron R AR; Long, Henry H; Qiu, Xintao X; Morgan, Elizabeth A EA; Dorfman, David M DM; Fiore, Danilo D; Jang, Julie J; Epstein, Alan L AL; Dogan, Ahmet A; Zhang, Yanming Y; Horwitz, Steven M SM; Jacobsen, Eric D ED; Santiago, Solimar S; Ren, Jian-Guo JG; Guerlavais, Vincent V; Annis, D Allen DA; Aivado, Manuel M; Saleh, Mansoor N MN; Mehta, Amitkumar A; Tsherniak, Aviad A; Root, David D; Vazquez, Francisca F; Hahn, William C WC; Inghirami, Giorgio G; Aster, Jon C JC; Weinstock, David M DM; Koch, Raphael R

Publication Date: 2018-05-22

Variant appearance in text: PKHD1: G448R; rs149781976

PubMed Link: 29789628

Variant Present in the following documents:

• 41467_2018_4356_MOESM12_ESM.xlsx, sheet 1
• 41467_2018_4356_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

---

Genomic Profiling on an Unselected Solid Tumor Population Reveals a Highly Mutated Wnt/β-Catenin Pathway Associated with Oncogenic EGFR Mutations.

Journal Of Personalized Medicine

Jiang, Jingrui J; Protopopov, Alexei A; Sun, Ruobai R; Lyle, Stephen S; Russell, Meaghan M

Publication Date: 2018-04-09

Variant appearance in text: PKHD1: G448R

PubMed Link: 29642553

Variant Present in the following documents:

• Main text
• jpm-08-00013.pdf

View BVdb publication page

---

Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges.

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

Vora, Neeta L NL; Powell, Bradford B; Brandt, Alicia A; Strande, Natasha N; Hardisty, Emily E; Gilmore, Kelly K; Foreman, Ann Katherine M AKM; Wilhelmsen, Kirk K; Bizon, Chris C; Reilly, Jason J; Owen, Phil P; Powell, Cynthia M CM; Skinner, Debra D; Rini, Christine C; Lyerly, Anne D AD; Boggess, Kim A KA; Weck, Karen K; Berg, Jonathan S JS; Evans, James P JP

Publication Date: 2017-11

Variant appearance in text: PKHD1: Gly448Arg

PubMed Link: 28518170

Variant Present in the following documents:

• Main text
• nihms867694.pdf

View BVdb publication page

---

Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs149781976

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

---

An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease.

Plos One

Eisenberger, Tobias T; Decker, Christian C; Hiersche, Milan M; Hamann, Ruben C RC; Decker, Eva E; Neuber, Steffen S; Frank, Valeska V; Bolz, Hanno J HJ; Fehrenbach, Henry H; Pape, Lars L; Toenshoff, Burkhard B; Mache, Christoph C; Latta, Kay K; Bergmann, Carsten C

Publication Date: 2015

Variant appearance in text: PKHD1: 1342G>C

PubMed Link: 25646624

Variant Present in the following documents:

• Main text
• pone.0116680.pdf

View BVdb publication page

---