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: rs4970833

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
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

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CLCC1 c. 75C>A Mutation in Pakistani Derived Retinitis Pigmentosa Families Likely Originated With a Single Founder Mutation 2,000-5,000 Years Ago.

Frontiers In Genetics

Ma, Yan Y; Wang, Xun X; Shoshany, Nadav N; Jiao, Xiaodong X; Lee, Adrian A; Ku, Gregory G; Baple, Emma L EL; Fasham, James J; Nadeem, Raheela R; Naeem, Muhammad Asif MA; Riazuddin, Sheikh S; Riazuddin, S Amer SA; Crosby, Andrew H AH; Hejtmancik, J Fielding JF

Publication Date: 2022

Variant appearance in text: rs4970833

PubMed Link: 35391798

Variant Present in the following documents:

• Main text
• fgene-13-804924.pdf

View BVdb publication page

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Mutant Huntingtin Affects Diabetes and Alzheimer's Markers in Human and Cell Models of Huntington's Disease.

Cells

Chaves, Gepoliano G; Stanley, John J; Pourmand, Nader N

Publication Date: 2019-08-23

Variant appearance in text: rs4970833

PubMed Link: 31450785

Variant Present in the following documents:

• cells-08-00962-s001.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: CELSR2: 4386+128G>A; rs4970833

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1
• Table_5.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: rs4970833

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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MGAS: a powerful tool for multivariate gene-based genome-wide association analysis.

Bioinformatics (Oxford, England)

Van der Sluis, Sophie S; Dolan, Conor V CV; Li, Jiang J; Song, Youqiang Y; Sham, Pak P; Posthuma, Danielle D; Li, Miao-Xin MX

Publication Date: 2015-04-01

Variant appearance in text: rs4970833

PubMed Link: 25431328

Variant Present in the following documents:

• Main text
• btu783.pdf

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Genome-wide association study of genetic predictors of overall survival for non-small cell lung cancer in never smokers.

Cancer Research

Wu, Xifeng X; Wang, Liang L; Ye, Yuanqing Y; Aakre, Jeremiah A JA; Pu, Xia X; Chang, Gee-Chen GC; Yang, Pan-Chyr PC; Roth, Jack A JA; Marks, Randolph S RS; Lippman, Scott M SM; Chang, Joe Y JY; Lu, Charles C; Deschamps, Claude C; Su, Wu-Chou WC; Wang, Wen-Chang WC; Huang, Ming-Shyan MS; Chang, David W DW; Li, Yan Y; Pankratz, V Shane VS; Minna, John D JD; Hong, Waun Ki WK; Hildebrandt, Michelle A T MA; Hsiung, Chao Agnes CA; Yang, Ping P

Publication Date: 2013-07-01

Variant appearance in text: rs4970833

PubMed Link: 23704207

Variant Present in the following documents:

• Main text

View BVdb publication page

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