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: rs755554

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Shared genetic architecture between the two neurodegenerative diseases: Alzheimer's disease and glaucoma.

Frontiers In Aging Neuroscience

Zheng, Chunwen C; Liu, Shunming S; Zhang, Xiayin X; Hu, Yunyan Y; Shang, Xianwen X; Zhu, Zhuoting Z; Huang, Yu Y; Wu, Guanrong G; Xiao, Yu Y; Du, Zijing Z; Liang, Yingying Y; Chen, Daiyu D; Zang, Siwen S; Hu, Yijun Y; He, Mingguang M; Zhang, Xueli X; Yu, Honghua H

Publication Date: 2022

Variant appearance in text: rs755554

PubMed Link: 36118709

Variant Present in the following documents:

• Main text
• fnagi-14-880576.pdf

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: rs755554

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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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: SLC39A13: 301+88G>C; rs755554

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Shared genetic etiology underlying Alzheimer's disease and major depressive disorder.

Translational Psychiatry

Lutz, Michael W MW; Sprague, Daniel D; Barrera, Julio J; Chiba-Falek, Ornit O

Publication Date: 2020-03-09

Variant appearance in text: rs755554

PubMed Link: 32152295

Variant Present in the following documents:

• Main text
• 41398_2020_Article_769.pdf

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: SLC39A13: 301+88G>C; rs755554

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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Detecting the genetic link between Alzheimer's disease and obesity using bioinformatics analysis of GWAS data.

Oncotarget

Zhuang, Qi-Shuai QS; Zheng, Hao H; Gu, Xiao-Dan XD; Shen, Liang L; Ji, Hong-Fang HF

Publication Date: 2017-08-22

Variant appearance in text: rs755554

PubMed Link: 28915562

Variant Present in the following documents:

• Main text
• oncotarget-08-55915.pdf

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: rs755554

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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