Publications:

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: PKD1: P900P; rs35667726

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: PKD1: 2700G>A; Pro900=; rs35667726

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: PKD1: P900P; rs35667726

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM6_ESM.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: 2700G>A; rs35667726

PubMed Link: 28378423

Variant Present in the following documents:

• HUMU-38-870-s001.pdf

View BVdb publication page

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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: 2700G>A

PubMed Link: 27835667

Variant Present in the following documents:

• pone.0166288.s005.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: 2700G>A; Pro900=; rs35667726

PubMed Link: 27499327

Variant Present in the following documents:

• srep30850-s2.xlsx, sheet 1

View BVdb publication page

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Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Genome Biology

,

Publication Date: 2015-06-26

Variant appearance in text: PKD1: P900P; rs35667726

PubMed Link: 26112015

Variant Present in the following documents:

• 13059_2015_693_MOESM3_ESM.xls, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: PKD1: P900P; rs35667726

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, 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: 2700G>A

PubMed Link: 24374109

Variant Present in the following documents:

• Main text

View BVdb publication page

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A novel long-range PCR sequencing method for genetic analysis of the entire PKD1 gene.

The Journal Of Molecular Diagnostics : Jmd

Tan, Ying-Cai YC; Michaeel, Alber A; Blumenfeld, Jon J; Donahue, Stephanie S; Parker, Tom T; Levine, Daniel D; Rennert, Hanna H

Publication Date: 2012-07

Variant appearance in text: PKD1: 2700G>A

PubMed Link: 22608885

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: 2700G>A; Pro900Pro

PubMed Link: 22008521

Variant Present in the following documents:

• Main text
• 1471-2369-12-57.pdf

View BVdb publication page

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