Publications:

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: rs2298122

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

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: rs2298122

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_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: CALY: 136-53C>A; rs2298122

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Genomewide Association Study of Fracture Nonunion Using Electronic Health Records.

Jbmr Plus

McCoy, Thomas H TH; Fragomen, Austin T AT; Hart, Kamber L KL; Pellegrini, Amelia M AM; Raskin, Kevin A KA; Perlis, Roy H RH

Publication Date: 2019-01

Variant appearance in text: rs2298122

PubMed Link: 30680360

Variant Present in the following documents:

• Main text

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: CALY: 136-53C>A; rs2298122

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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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: rs2298122

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Gender-stratified gene and gene-treatment interactions in smoking cessation.

The Pharmacogenomics Journal

Lee, W W; Bergen, A W AW; Swan, G E GE; Li, D D; Liu, J J; Thomas, P P; Tyndale, R F RF; Benowitz, N L NL; Lerman, C C; Conti, D V DV

Publication Date: 2012-12

Variant appearance in text: rs2298122

PubMed Link: 21808284

Variant Present in the following documents:

• NIHMS305090-supplement-3.pdf

View BVdb publication page

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Association of the calcyon neuron-specific vesicular protein gene (CALY) with adolescent smoking initiation in China and California.

American Journal Of Epidemiology

Li, Dalin D; London, Stephanie J SJ; Liu, Jinghua J; Lee, Wonho W; Jiang, Xuejuan X; Van Den Berg, David D; Bergen, Andrew W AW; Nishita, Denise D; Waleh, Nahid N; Swan, Gary E GE; Gallaher, Peggy P; Chou, Chih-Ping CP; Shih, Jean C JC; Unger, Jennifer B JB; Gauderman, W James WJ; Gilliland, Frank F; Johnson, C Anderson CA; Conti, David V DV

Publication Date: 2011-05-01

Variant appearance in text: rs2298122

PubMed Link: 21415033

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Hybrid Machine Learning Method for Fusing fMRI and Genetic Data: Combining both Improves Classification of Schizophrenia.

Frontiers In Human Neuroscience

Yang, Honghui H; Liu, Jingyu J; Sui, Jing J; Pearlson, Godfrey G; Calhoun, Vince D VD

Publication Date: 2010

Variant appearance in text: rs2298122

PubMed Link: 21119772

Variant Present in the following documents:

• Main text
• fnhum-04-00192.pdf

View BVdb publication page

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Physiogenomic analysis of localized FMRI brain activity in schizophrenia.

Annals Of Biomedical Engineering

Windemuth, Andreas A; Calhoun, Vince D VD; Pearlson, Godfrey D GD; Kocherla, Mohan M; Jagannathan, Kanchana K; Ruaño, Gualberto G

Publication Date: 2008-06

Variant appearance in text: rs2298122

PubMed Link: 18330705

Variant Present in the following documents:

• Main text

View BVdb publication page

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