Publications:

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Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.

Journal Of Nephrology

Zacchia, Miriam M; Blanco, Francesca Del Vecchio FDV; Trepiccione, Francesco F; Blasio, Giancarlo G; Torella, Annalaura A; Melluso, Andrea A; Capolongo, Giovanna G; Pollastro, Rosa Maria RM; Piluso, Giulio G; Di Iorio, Valentina V; Simonelli, Francesca F; Viggiano, Davide D; Perna, Alessandra A; Nigro, Vincenzo V; Capasso, Giovambattista G

Publication Date: 2021-12

Variant appearance in text: PKD1: 8123C>T; T2708M

PubMed Link: 33964006

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetics of 35 blood and urine biomarkers in the UK Biobank.

Nature Genetics

Sinnott-Armstrong, Nasa N; Tanigawa, Yosuke Y; Amar, David D; Mars, Nina N; Benner, Christian C; Aguirre, Matthew M; Venkataraman, Guhan Ram GR; Wainberg, Michael M; Ollila, Hanna M HM; Kiiskinen, Tuomo T; Havulinna, Aki S AS; Pirruccello, James P JP; Qian, Junyang J; Shcherbina, Anna A; , ; Rodriguez, Fatima F; Assimes, Themistocles L TL; Agarwala, Vineeta V; Tibshirani, Robert R; Hastie, Trevor T; Ripatti, Samuli S; Pritchard, Jonathan K JK; Daly, Mark J MJ; Rivas, Manuel A MA

Publication Date: 2021-02

Variant appearance in text: PKD1: 8123C>T; Thr2708Met; rs147350387

PubMed Link: 33462484

Variant Present in the following documents:

• NIHMS1651539-supplement-2.xlsx, sheet 21

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: PKD1: 8123C>T; Thr2708Met

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: PKD1: T2708M; rs147350387

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Whole-Exome Sequencing Study of Extreme Phenotypes of NAFLD.

Hepatology Communications

Kleinstein, Sarah E SE; Rein, Matthew M; Abdelmalek, Manal F MF; Guy, Cynthia D CD; Goldstein, David B DB; Mae Diehl, Anna A; Moylan, Cynthia A CA

Publication Date: 2018-09

Variant appearance in text: PKD1: T2708M; rs147350387

PubMed Link: 30202817

Variant Present in the following documents:

• HEP4-2-1021-s001.xlsx, sheet 5

View BVdb publication page

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Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications

Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M

Publication Date: 2018-02-15

Variant appearance in text: PKD1: T2708M; rs147350387

PubMed Link: 29449575

Variant Present in the following documents:

• 41467_2017_2688_MOESM14_ESM.xls, sheet 3
• 41467_2017_2688_MOESM20_ESM.xlsx, sheet 3
• 41467_2017_2688_MOESM14_ESM.xls, sheet 4

View BVdb publication page

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Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing.

European Journal Of Human Genetics : Ejhg

Vogelaar, Ingrid P IP; van der Post, Rachel S RS; van Krieken, J Han Jm JHJ; Spruijt, Liesbeth L; van Zelst-Stams, Wendy Ag WA; Kets, C Marleen CM; Lubinski, Jan J; Jakubowska, Anna A; Teodorczyk, Urszula U; Aalfs, Cora M CM; van Hest, Liselotte P LP; Pinheiro, Hugo H; Oliveira, Carla C; Jhangiani, Shalini N SN; Muzny, Donna M DM; Gibbs, Richard A RA; Lupski, James R JR; de Ligt, Joep J; Vissers, Lisenka E L M LELM; Hoischen, Alexander A; Gilissen, Christian C; van de Vorst, Maartje M; Goeman, Jelle J JJ; Schackert, Hans K HK; Ranzani, Guglielmina N GN; Molinaro, Valeria V; Gómez García, Encarna B EB; Hes, Frederik J FJ; Holinski-Feder, Elke E; Genuardi, Maurizio M; Ausems, Margreet G E M MGEM; Sijmons, Rolf H RH; Wagner, Anja A; van der Kolk, Lizet E LE; Bjørnevoll, Inga I; Høberg-Vetti, Hildegunn H; van Kessel, Ad Geurts AG; Kuiper, Roland P RP; Ligtenberg, Marjolijn J L MJL; Hoogerbrugge, Nicoline N

Publication Date: 2017-11

Variant appearance in text: PKD1: 8123C>T; Thr2708Met

PubMed Link: 28875981

Variant Present in the following documents:

• ejhg2017138x4.xlsx, sheet 1

View BVdb publication page

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Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing.

Human Mutation

Borràs, Daniel M DM; Vossen, Rolf H A M RHAM; Liem, Michael M; Buermans, Henk P J HPJ; Dauwerse, Hans H; van Heusden, Dave D; Gansevoort, Ron T RT; den Dunnen, Johan T JT; Janssen, Bart B; Peters, Dorien J M DJM; Losekoot, Monique M; Anvar, Seyed Yahya SY

Publication Date: 2017-07

Variant appearance in text: PKD1: 8123C>T; Thr2708Met; rs147350387

PubMed Link: 28378423

Variant Present in the following documents:

• HUMU-38-870-s001.pdf

View BVdb publication page

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: PKD1: T2708M

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1

View BVdb publication page

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Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).

Scientific Reports

Carrera, Paola P; Calzavara, Silvia S; Magistroni, Riccardo R; den Dunnen, Johan T JT; Rigo, Francesca F; Stenirri, Stefania S; Testa, Francesca F; Messa, Piergiorgio P; Cerutti, Roberta R; Scolari, Francesco F; Izzi, Claudia C; Edefonti, Alberto A; Negrisolo, Susanna S; Benetti, Elisa E; Alibrandi, Maria Teresa Sciarrone MT; Manunta, Paolo P; Boletta, Alessandra A; Ferrari, Maurizio M

Publication Date: 2016-08-08

Variant appearance in text: PKD1: 8123C>T; Thr2708Met; rs147350387

PubMed Link: 27499327

Variant Present in the following documents:

• srep30850-s2.xlsx, sheet 1

View BVdb publication page

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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: T2708M

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: PKD1: T2708M

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing.

The Journal Of Molecular Diagnostics : Jmd

Tan, Adrian Y AY; Michaeel, Alber A; Liu, Genyan G; Elemento, Olivier O; Blumenfeld, Jon J; Donahue, Stephanie S; Parker, Tom T; Levine, Daniel D; Rennert, Hanna H

Publication Date: 2014-03

Variant appearance in text: PKD1: 8123C>T; T2708M

PubMed Link: 24374109

Variant Present in the following documents:

• Main text

View BVdb publication page

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High Resolution Melt analysis for mutation screening in PKD1 and PKD2.

Bmc Nephrology

Bataille, Stanislas S; Berland, Yvon Y; Fontes, Michel M; Burtey, Stéphane S

Publication Date: 2011-10-18

Variant appearance in text: PKD1: 8123C>T; Thr2708Met

PubMed Link: 22008521

Variant Present in the following documents:

• Main text
• 1471-2369-12-57.pdf

View BVdb publication page

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