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: rs4936770

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: rs4936770

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

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An association study of the HSPA8 gene polymorphisms with schizophrenia in a Polish population.

Cell Stress & Chaperones

Kowalczyk, Malgorzata M; Owczarek, Aleksander A; Suchanek-Raif, Renata R; Kucia, Krzysztof K; Kowalski, Jan J

Publication Date: 2022-01

Variant appearance in text: rs4936770

PubMed Link: 34932194

Variant Present in the following documents:

• Main text
• 12192_2021_Article_1249.pdf

View BVdb publication page

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An association study of the HSPA8 gene polymorphisms with schizophrenia in a Polish population.

Cell Stress & Chaperones

Kowalczyk, Malgorzata M; Owczarek, Aleksander A; Suchanek-Raif, Renata R; Kucia, Krzysztof K; Kowalski, Jan J

Publication Date: 2021-12-21

Variant appearance in text: rs4936770

PubMed Link: 34932194

Variant Present in the following documents:

• Main text
• 12192_2021_Article_1249.pdf

View BVdb publication page

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Association of heat shock protein polymorphisms with patient susceptibility to coronary artery disease comorbid depression and anxiety in a Chinese population.

Peerj

Wang, Haidong H; Ba, Yudong Y; Han, Wenxiu W; Zhang, Haixia H; Zhu, Laiqing L; Jiang, Pei P

Publication Date: 2021

Variant appearance in text: rs4936770

PubMed Link: 34178482

Variant Present in the following documents:

• Main text
• peerj-09-11636.pdf

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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: rs4936770

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Principles Governing A-to-I RNA Editing in the Breast Cancer Transcriptome.

Cell Reports

Fumagalli, Debora D; Gacquer, David D; Rothé, Françoise F; Lefort, Anne A; Libert, Frederick F; Brown, David D; Kheddoumi, Naima N; Shlien, Adam A; Konopka, Tomasz T; Salgado, Roberto R; Larsimont, Denis D; Polyak, Kornelia K; Willard-Gallo, Karen K; Desmedt, Christine C; Piccart, Martine M; Abramowicz, Marc M; Campbell, Peter J PJ; Sotiriou, Christos C; Detours, Vincent V

Publication Date: 2015-10-13

Variant appearance in text: rs4936770

PubMed Link: 26440892

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Genetic variations in HSPA8 gene associated with coronary heart disease risk in a Chinese population.

Plos One

He, Meian M; Guo, Huan H; Yang, Xiaobo X; Zhou, Li L; Zhang, Xiaomin X; Cheng, Longxian L; Zeng, Hesong H; Hu, Frank B FB; Tanguay, Robert M RM; Wu, Tangchun T

Publication Date: 2010-03-16

Variant appearance in text: rs4936770

PubMed Link: 20300519

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study.

Bmc Medical Genetics

Vasan, Ramachandran S RS; Larson, Martin G MG; Aragam, Jayashri J; Wang, Thomas J TJ; Mitchell, Gary F GF; Kathiresan, Sekar S; Newton-Cheh, Christopher C; Vita, Joseph A JA; Keyes, Michelle J MJ; O'Donnell, Christopher J CJ; Levy, Daniel D; Benjamin, Emelia J EJ

Publication Date: 2007-09-19

Variant appearance in text: rs4936770

PubMed Link: 17903301

Variant Present in the following documents:

• Main text
• 1471-2350-8-S1-S2.pdf

View BVdb publication page

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