Publications:

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Polygenic risk affects the penetrance of monogenic kidney disease.

Medrxiv : The Preprint Server For Health Sciences

Khan, Atlas A; Shang, Ning N; Nestor, Jordan G JG; Weng, Chunhua C; Hripcsak, George G; Harris, Peter C PC; Gharavi, Ali G AG; Kiryluk, Krzysztof K

Publication Date: 2023-05-10

Variant appearance in text: PKD1: R3753W

PubMed Link: 37214819

Variant Present in the following documents:

• media-1.xlsx, sheet 2
• media-1.xlsx, sheet 3

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A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care.

Kidney International Reports

Lindemann, Christoph Heinrich CH; Wenzel, Andrea A; Erger, Florian F; Middelmann, Lea L; Borde, Julika J; Hahnen, Eric E; Krauß, Denise D; Oehm, Simon S; Arjune, Sita S; Todorova, Polina P; Burgmaier, Kathrin K; Liebau, Max Christoph MC; Grundmann, Franziska F; Beck, Bodo B BB; Müller, Roman-Ulrich RU

Publication Date: 2023-03

Variant appearance in text: PKD1: 11257C>T; R3753W

PubMed Link: 36938073

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

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Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: PKD1: 11257C>T; Arg3753Trp

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

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Identification of ACOT13 and PTGER2 as novel candidate genes of autosomal dominant polycystic kidney disease through whole exome sequencing.

European Journal Of Medical Research

Du, Na N; Dong, Dan D; Sun, Luyao L; Che, Lihe L; Li, Xiaohua X; Liu, Yong Y; Wang, Bin B

Publication Date: 2021-12-09

Variant appearance in text: PKD1: R3753W

PubMed Link: 34886911

Variant Present in the following documents:

• Main text
• 40001_2021_Article_613.pdf

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Identification of ACOT13 and PTGER2 as novel candidate genes of autosomal dominant polycystic kidney disease through whole exome sequencing.

European Journal Of Medical Research

Du, Na N; Dong, Dan D; Sun, Luyao L; Che, Lihe L; Li, Xiaohua X; Liu, Yong Y; Wang, Bin B

Publication Date: 2021-12-09

Variant appearance in text: PKD1: R3753W

PubMed Link: 34886911

Variant Present in the following documents:

• Main text
• 40001_2021_Article_613.pdf

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Deciphering genes associated with diffuse large B-cell lymphoma with lymphomatous effusions: A mutational accumulation scoring approach.

Biomarker Research

Abdollahi, Sina S; Dehghanian, Seyedeh Zahra SZ; Hung, Liang-Yi LY; Yang, Shiang-Jie SJ; Chen, Dao-Peng DP; Medeiros, L Jeffrey LJ; Chiang, Jung-Hsien JH; Chang, Kung-Chao KC

Publication Date: 2021-10-09

Variant appearance in text: PKD1: R3753W

PubMed Link: 34635181

Variant Present in the following documents:

• 40364_2021_330_MOESM2_ESM.xlsx, sheet 1

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Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community.

American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics

Sobering, Andrew K AK; Li, Dong D; Beighley, Jennifer S JS; Carey, John C JC; Donald, Tyhiesia T; Elsea, Sarah H SH; Figueroa, Karla P KP; Gerdts, Jennifer J; Hamlet, Andre A; Mirzaa, Ghayda M GM; Nelson, Beverly B; Pulst, Stefan M SM; Smith, Janice L JL; Tassone, Flora F; Toriello, Helga V HV; Walker, Ruth H RH; Yearwood, Katherine R KR; Bhoj, Elizabeth J EJ

Publication Date: 2020-12

Variant appearance in text: PKD1: 11257C>T; Arg3753Trp

PubMed Link: 33274544

Variant Present in the following documents:

• Main text

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Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction.

Bmc Medical Genetics

He, Wen-Bin WB; Xiao, Wen-Juan WJ; Tan, Yue-Qiu YQ; Zhao, Xiao-Meng XM; Li, Wen W; Zhang, Qian-Jun QJ; Zhong, Chang-Gao CG; Li, Xiu-Rong XR; Hu, Liang L; Lu, Guang-Xiu GX; Lin, Ge G; Du, Juan J

Publication Date: 2018-10-17

Variant appearance in text: PKD1: 11257C>T; Arg3753Trp

PubMed Link: 30333007

Variant Present in the following documents:

• Main text
• 12881_2018_Article_693.pdf

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Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System.

Plos One

Kinoshita, Moritoshi M; Higashihara, Eiji E; Kawano, Haruna H; Higashiyama, Ryo R; Koga, Daisuke D; Fukui, Takafumi T; Gondo, Nobuhisa N; Oka, Takehiko T; Kawahara, Kozo K; Rigo, Krisztina K; Hague, Tim T; Katsuragi, Kiyonori K; Sudo, Kimiyoshi K; Takeshi, Masahiko M; Horie, Shigeo S; Nutahara, Kikuo K

Publication Date: 2016

Variant appearance in text: PKD1: 11257C>T; R3753W

PubMed Link: 27835667

Variant Present in the following documents:

• Main text
• pone.0166288.s007.xls, sheet 1

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System analysis of gene mutations and clinical phenotype in Chinese patients with autosomal-dominant polycystic kidney disease.

Scientific Reports

Jin, Meiling M; Xie, Yuansheng Y; Chen, Zhiqiang Z; Liao, Yujie Y; Li, Zuoxiang Z; Hu, Panpan P; Qi, Yan Y; Yin, Zhiwei Z; Li, Qinggang Q; Fu, Ping P; Chen, Xiangmei X

Publication Date: 2016-10-26

Variant appearance in text: PKD1: 11257C>T; R3753W

PubMed Link: 27782177

Variant Present in the following documents:

• srep35945-s1.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: PKD1: R3753W

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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