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: rs6413504

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_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: rs6413504

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs6413504

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: LDLR: 2548-42A>G; rs6413504

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: LDLR: 2548-42A>G; rs6413504

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Polymorphisms in PCSK9, LDLR, BCMO1, SLC12A3, and KCNJ1 are Associated with Serum Lipid Profile in Chinese Han Population.

International Journal Of Environmental Research And Public Health

Li, Zheng Z; Zhao, Tianyu T; Tan, Xiaohua X; Lei, Song S; Huang, Liu L; Yang, Lei L

Publication Date: 2019-09-02

Variant appearance in text: rs6413504

PubMed Link: 31480784

Variant Present in the following documents:

• Main text
• ijerph-16-03207.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: LDLR: 2548-42A>G; rs6413504

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs6413504

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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Gallbladder cancer epidemiology, pathogenesis and molecular genetics: Recent update.

World Journal Of Gastroenterology

Sharma, Aarti A; Sharma, Kiran Lata KL; Gupta, Annapurna A; Yadav, Alka A; Kumar, Ashok A

Publication Date: 2017-06-14

Variant appearance in text: rs6413504

PubMed Link: 28652652

Variant Present in the following documents:

• Main text

View BVdb publication page

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Low LDL cholesterol, PCSK9 and HMGCR genetic variation, and risk of Alzheimer's disease and Parkinson's disease: Mendelian randomisation study.

Bmj (Clinical Research Ed.)

Benn, Marianne M; Nordestgaard, Børge G BG; Frikke-Schmidt, Ruth R; Tybjærg-Hansen, Anne A

Publication Date: 2017-04-24

Variant appearance in text: rs6413504

PubMed Link: 28438747

Variant Present in the following documents:

• benm033277.ww1.pdf

View BVdb publication page

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Lipids, blood pressure and kidney update 2015.

Lipids In Health And Disease

Banach, Maciej M; Aronow, Wilbert S WS; Serban, Maria-Corina MC; Rysz, Jacek J; Voroneanu, Luminita L; Covic, Adrian A

Publication Date: 2015-12-30

Variant appearance in text: rs6413504

PubMed Link: 26718096

Variant Present in the following documents:

• Main text
• 12944_2015_Article_169.pdf

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs6413504

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2

View BVdb publication page

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Familial hypercholesterolemia: Molecular characterization of possible cases from the Azores Islands (Portugal).

Meta Gene

Cymbron, Teresa T; Mendes, Patrícia P; Ramos, Amanda A; Raposo, Mafalda M; Kazachkova, Nadiya N; Medeiros, Ana Margarida AM; Bruges-Armas, Jácome J; Bourbon, Mafalda M; Lima, Manuela M

Publication Date: 2014-12

Variant appearance in text: rs6413504

PubMed Link: 25606447

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Candidate gene studies in gallbladder cancer: a systematic review and meta-analysis.

Mutation Research

Srivastava, Kshitij K; Srivastava, Anvesha A; Sharma, Kiran Lata KL; Mittal, Balraj B

Publication Date: 2011

Variant appearance in text: rs6413504

PubMed Link: 21708280

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic risk profiling for prediction of type 2 diabetes.

Plos Currents

Mihaescu, Raluca R; Meigs, James J; Sijbrands, Eric E; Janssens, A Cecile AC

Publication Date: 2011-01-11

Variant appearance in text: rs6413504

PubMed Link: 21278902

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of type 2 diabetes-associated combination of SNPs using support vector machine.

Bmc Genetics

Ban, Hyo-Jeong HJ; Heo, Jee Yeon JY; Oh, Kyung-Soo KS; Park, Keun-Joon KJ

Publication Date: 2010-04-23

Variant appearance in text: rs6413504

PubMed Link: 20416077

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic determinants of serum lipid levels in Chinese subjects: a population-based study in Shanghai, China.

European Journal Of Epidemiology

Andreotti, Gabriella G; Menashe, Idan I; Chen, Jinbo J; Chang, Shih-Chen SC; Rashid, Asif A; Gao, Yu-Tang YT; Han, Tian-Quan TQ; Sakoda, Lori C LC; Chanock, Stephen S; Rosenberg, Philip S PS; Hsing, Ann W AW

Publication Date: 2009

Variant appearance in text: rs6413504

PubMed Link: 19888660

Variant Present in the following documents:

• Main text

View BVdb publication page

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Replication of genetic associations with plasma lipoprotein traits in a multiethnic sample.

Journal Of Lipid Research

Lanktree, Matthew B MB; Anand, Sonia S SS; Yusuf, Salim S; Hegele, Robert A RA; ,

Publication Date: 2009-07

Variant appearance in text: rs6413504

PubMed Link: 19299407

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of common genetic variants that account for transcript isoform variation between human populations.

Human Genetics

Zhang, Wei W; Duan, Shiwei S; Bleibel, Wasim K WK; Wisel, Steven A SA; Huang, R Stephanie RS; Wu, Xiaolin X; He, Lijun L; Clark, Tyson A TA; Chen, Tina X TX; Schweitzer, Anthony C AC; Blume, John E JE; Dolan, M Eileen ME; Cox, Nancy J NJ

Publication Date: 2009-02

Variant appearance in text: rs6413504

PubMed Link: 19052777

Variant Present in the following documents:

• Main text

View BVdb publication page

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Post genome-wide association studies of novel genes associated with type 2 diabetes show gene-gene interaction and high predictive value.

Plos One

Cauchi, Stéphane S; Meyre, David D; Durand, Emmanuelle E; Proença, Christine C; Marre, Michel M; Hadjadj, Samy S; Choquet, Hélène H; De Graeve, Franck F; Gaget, Stefan S; Allegaert, Frederic F; Delplanque, Jérôme J; Permutt, Marshall Alan MA; Wasson, Jon J; Blech, Ilana I; Charpentier, Guillaume G; Balkau, Beverley B; Vergnaud, Anne-Claire AC; Czernichow, Sébastien S; Patsch, Wolfgang W; Chikri, Mohamed M; Glaser, Benjamin B; Sladek, Robert R; Froguel, Philippe P

Publication Date: 2008-05-07

Variant appearance in text: rs6413504

PubMed Link: 18461161

Variant Present in the following documents:

• Main text
• pone.0002031.pdf

View BVdb publication page

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Polymorphisms of genes in the lipid metabolism pathway and risk of biliary tract cancers and stones: a population-based case-control study in Shanghai, China.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Andreotti, Gabriella G; Chen, Jinbo J; Gao, Yu-Tang YT; Rashid, Asif A; Chen, Bingshu E BE; Rosenberg, Philip P; Sakoda, Lori C LC; Deng, Jie J; Shen, Ming-Chang MC; Wang, Bing-Sheng BS; Han, Tian-Quan TQ; Zhang, Bai-He BH; Yeager, Meredith M; Welch, Robert R; Chanock, Stephen S; Fraumeni, Joseph F JF; Hsing, Ann W AW

Publication Date: 2008-03

Variant appearance in text: rs6413504

PubMed Link: 18296645

Variant Present in the following documents:

• Main text

View BVdb publication page

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