Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs1713423

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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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: rs1713423

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

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: rs1713423

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: TEP1: 1929-147C>T; rs1713423

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_7.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs1713423

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Genetic variants in telomere-maintenance genes are associated with ovarian cancer risk and outcome.

Journal Of Cellular And Molecular Medicine

Sun, Yuhui Y; Tao, Wade W; Huang, Maosheng M; Wu, Xifeng X; Gu, Jian J

Publication Date: 2017-03

Variant appearance in text: rs1713423

PubMed Link: 28233473

Variant Present in the following documents:

• Main text
• JCMM-21-510.pdf

View BVdb publication page

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Genome-wide linkage scan for primary open angle glaucoma: influences of ancestry and age at diagnosis.

Plos One

Crooks, Kristy R KR; Allingham, R Rand RR; Qin, Xuejun X; Liu, Yutao Y; Gibson, Jason R JR; Santiago-Turla, Cecilia C; Larocque-Abramson, Karen R KR; Del Bono, Elizabeth E; Challa, Pratap P; Herndon, Leon W LW; Akafo, Stephen S; Wiggs, Janey L JL; Schmidt, Silke S; Hauser, Michael A MA

Publication Date: 2011

Variant appearance in text: rs1713423

PubMed Link: 21765929

Variant Present in the following documents:

• Main text
• pone.0021967.pdf

View BVdb publication page

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The SNPlex genotyping system: a flexible and scalable platform for SNP genotyping.

Journal Of Biomolecular Techniques : Jbt

Tobler, Andreas R AR; Short, Sabine S; Andersen, Mark R MR; Paner, Teodoro M TM; Briggs, Jason C JC; Lambert, Stephen M SM; Wu, Priscilla P PP; Wang, Yiwen Y; Spoonde, Alexander Y AY; Koehler, Ryan T RT; Peyret, Nicolas N; Chen, Caifu C; Broomer, Adam J AJ; Ridzon, Dana A DA; Zhou, Hui H; Hoo, Bradley S BS; Hayashibara, Kathleen C KC; Leong, Lilley N LN; Ma, Congcong N CN; Rosenblum, Barnet B BB; Day, Joseph P JP; Ziegle, Janet S JS; De La Vega, Francisco M FM; Rhodes, Michael D MD; Hennessy, Kevin M KM; Wenz, H Michael HM

Publication Date: 2005-12

Variant appearance in text: rs1713423

PubMed Link: 16522862

Variant Present in the following documents:

• Main text

View BVdb publication page

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