Publications:

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: PKD1: 6395T>G; Phe2132Cys; rs150154235

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing.

Scientific Reports

Kim, Hyunsuk H; Park, Hayne Cho HC; Ryu, Hyunjin H; Kim, Hyunho H; Lee, Hyun-Seob HS; Heo, Jongho J; Lee, Chung C; Kim, Nayoung K D NKD; Park, Woong-Yang WY; Hwang, Young-Hwan YH; Lee, Kyu Beck KB; Oh, Kook-Hwan KH; Oh, Yun Kyu YK; Ahn, Curie C

Publication Date: 2019-11-18

Variant appearance in text: PKD1: 6395T>G; Phe2132Cys

PubMed Link: 31740684

Variant Present in the following documents:

• 41598_2019_52474_MOESM1_ESM.pdf

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Intrafamilial Variability of ADPKD.

Kidney International Reports

Lanktree, Matthew B MB; Guiard, Elsa E; Li, Weili W; Akbari, Pedram P; Haghighi, Amirreza A; Iliuta, Ioan-Andrei IA; Shi, Belili B; Chen, Chen C; He, Ning N; Song, Xuewen X; Margetts, Peter J PJ; Ingram, Alistair J AJ; Khalili, Korosh K; Paterson, Andrew D AD; Pei, York Y

Publication Date: 2019-07

Variant appearance in text: PKD1: 6395T>G; F2132C

PubMed Link: 31317121

Variant Present in the following documents:

• Main text
• main.pdf

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PKD1 mutation may epistatically ameliorate nephronophthisis progression in patients with NPHP1 deletion.

Clinical Case Reports

Watanabe, Saki S; Ino, Jun J; Fujimaru, Takuya T; Taneda, Sekiko S; Akihisa, Taro T; Makabe, Shiho S; Kataoka, Hiroshi H; Mori, Takayasu T; Sohara, Eisei E; Uchida, Shinichi S; Nitta, Kosaku K; Mochizuki, Toshio T

Publication Date: 2019-02

Variant appearance in text: PKD1: 6395T>G; Phe2132Cys; rs150154235

PubMed Link: 30847201

Variant Present in the following documents:

• Main text
• CCR3-7-336.pdf

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Congenital hepatic fibrosis and portal hypertension in autosomal dominant polycystic kidney disease.

Journal Of Pediatric Gastroenterology And Nutrition

O'Brien, Kevin K; Font-Montgomery, Esperanza E; Lukose, Linda L; Bryant, Joy J; Piwnica-Worms, Katie K; Edwards, Hailey H; Riney, Lauren L; Garcia, Angelica A; Daryanani, Kailash K; Choyke, Peter P; Mohan, Parvathi P; Heller, Theo T; Gahl, William A WA; Gunay-Aygun, Meral M

Publication Date: 2012-01

Variant appearance in text: PKD1: Phe2132Cys

PubMed Link: 21694639

Variant Present in the following documents:

• Main text

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