Publications:

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IPNA 2022 - Abstract Book.

Pediatric Nephrology (Berlin, Germany)

Publication Date: 2023-04-20

Variant appearance in text: ARPKD: 9629C>G

PubMed Link: 37079101

Variant Present in the following documents:

• 467_2022_Article_5865.pdf

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Comprehensive next-generation profiling of clonal hematopoiesis in cancer patients using paired tumor-blood sequencing for guiding personalized therapies.

Clinical And Translational Medicine

Li, Ziyang Z; Huang, Wensou W; Yin, Jiani C JC; Na, Chenglong C; Wu, Xue X; Shao, Yang Y; Ding, Huaxin H; Li, Jinming J

Publication Date: 2020-11

Variant appearance in text: PKHD1: 9629C>G

PubMed Link: 33252848

Variant Present in the following documents:

• CTM2-10-e222-s003.xlsx, sheet 1

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: PKHD1: S3210C

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 13

View BVdb publication page

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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: S3210C

PubMed Link: 29642553

Variant Present in the following documents:

• Main text
• jpm-08-00013.pdf

View BVdb publication page

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Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women.

Oncotarget

Yu, Yan Y; Lu, Bingjian B; Lu, Weiguo W; Li, Shuang S; Li, Xiuqin X; Wang, Xinyu X; Wan, Xiaoyun X; Chen, Yaxia Y; Feng, Suwen S; Jia, Yao Y; Yang, Ru R; Tang, Fangxu F; Li, Xiong X; Zhang, Shulan S; Wang, Xinyan X; Wei, Heng H; Peng, Zhilan Z; Lu, Lin L; Zhong, Huizhen H; Zhao, Linjun L; Huang, Zhangqian Z; Lin, Lin L; Shen, Weihong W; Lu, Yan Y; Cao, Zhu Z; Zou, Jian J; Ma, Yuejiang Y; Chen, Xiaojing X; Tian, Qifang Q; Lu, Shiming S; Liu, Pengyuan P; Ma, Ding D; Xie, Xing X; Cheng, Xiaodong X

Publication Date: 2017-09-26

Variant appearance in text: PKHD1: S3210C

PubMed Link: 29088863

Variant Present in the following documents:

• oncotarget-08-75264-s003.xls, sheet 1

View BVdb publication page

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Tracking the origin of simultaneous endometrial and ovarian cancer by next-generation sequencing - a case report.

Bmc Cancer

Valtcheva, Nadejda N; Lang, Franziska M FM; Noske, Aurelia A; Samartzis, Eleftherios P EP; Schmidt, Anna-Maria AM; Bellini, Elisa E; Fink, Daniel D; Moch, Holger H; Rechsteiner, Markus M; Dedes, Konstantin J KJ; Wild, Peter J PJ

Publication Date: 2017-01-19

Variant appearance in text: PKHD1: 9629C>G; Ser3210Cys; rs141081295

PubMed Link: 28103826

Variant Present in the following documents:

• 12885_2017_3054_MOESM1_ESM.xlsx, sheet 1
• 12885_2017_3054_MOESM1_ESM.xlsx, sheet 2
• 12885_2017_3054_MOESM1_ESM.xlsx, sheet 3
• 12885_2017_3054_MOESM1_ESM.xlsx, sheet 6
• 12885_2017_3054_MOESM1_ESM.xlsx, sheet 5
• 12885_2017_3054_MOESM1_ESM.xlsx, sheet 4

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Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.

Experimental & Molecular Medicine

Kang, Hee Gyung HG; Lee, Hyun Kyung HK; Ahn, Yo Han YH; Joung, Je-Gun JG; Nam, Jaeyong J; Kim, Nayoung K D NK; Ko, Jung Min JM; Cho, Min Hyun MH; Shin, Jae Il JI; Kim, Joon J; Park, Hye Won HW; Park, Young Seo YS; Ha, Il-Soo IS; Chung, Woo Yeong WY; Lee, Dae-Yeol DY; Kim, Su Young SY; Park, Woong Yang WY; Cheong, Hae Il HI

Publication Date: 2016-08-05

Variant appearance in text: PKHD1: Ser3210Cys

PubMed Link: 27491411

Variant Present in the following documents:

• Main text
• emm201663a.pdf

View BVdb publication page

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Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease.

Journal Of The American Society Of Nephrology : Jasn

Audrézet, Marie-Pierre MP; Corbiere, Christine C; Lebbah, Said S; Morinière, Vincent V; Broux, Françoise F; Louillet, Ferielle F; Fischbach, Michel M; Zaloszyc, Ariane A; Cloarec, Sylvie S; Merieau, Elodie E; Baudouin, Véronique V; Deschênes, Georges G; Roussey, Gwenaelle G; Maestri, Sandrine S; Visconti, Chiara C; Boyer, Olivia O; Abel, Carine C; Lahoche, Annie A; Randrianaivo, Hanitra H; Bessenay, Lucie L; Mekahli, Djalila D; Ouertani, Ines I; Decramer, Stéphane S; Ryckenwaert, Amélie A; Cornec-Le Gall, Emilie E; Salomon, Rémi R; Ferec, Claude C; Heidet, Laurence L

Publication Date: 2016-03

Variant appearance in text: PKHD1: 9629C>G; Ser3210Cys; rs141081295

PubMed Link: 26139440

Variant Present in the following documents:

• Main text

View BVdb publication page

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CanDrA: cancer-specific driver missense mutation annotation with optimized features.

Plos One

Mao, Yong Y; Chen, Han H; Liang, Han H; Meric-Bernstam, Funda F; Mills, Gordon B GB; Chen, Ken K

Publication Date: 2013

Variant appearance in text: PKHD1: S3210C

PubMed Link: 24205039

Variant Present in the following documents:

• pone.0077945.s001.xls, sheet 3

View BVdb publication page

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