Publications:

Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing.

Cold Spring Harbor Molecular Case Studies

Thiffault, Isabelle I; Atherton, Andrea A; Heese, Bryce A BA; T Abdelmoity, Ahmed A; Pawar, Kailash K; Farrow, Emily E; Zellmer, Lee L; Miller, Neil N; Soden, Sarah S; Saunders, Carol C

Publication Date: 2020-06

Variant appearance in text: PKHD1: 334G>A; G112R; rs149841071

PubMed Link: 32358097

Variant Present in the following documents:

• supp_mcs.a003970_Supplemental_Table.xlsx, sheet 4

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Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports

Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z

Publication Date: 2018-10-30

Variant appearance in text: PKHD1: G112R; rs149841071

PubMed Link: 30380422

Variant Present in the following documents:

• NIHMS1511993-supplement-6.xlsx, sheet 1

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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: rs149841071

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

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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: 334G>A

PubMed Link: 25646624

Variant Present in the following documents:

• Main text
• pone.0116680.pdf

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: rs149841071

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

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