Publications:

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Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-25

Variant appearance in text: rs4784675

PubMed Link: 36966136

Variant Present in the following documents:

• 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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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: rs4784675

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

View BVdb publication page

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Monitoring and Management of Bardet-Biedl Syndrome: What the Multi-Disciplinary Team Can Do.

Journal Of Multidisciplinary Healthcare

Caba, Lavinia L; Florea, Laura L; Braha, Elena Emanuela EE; Lupu, Valeriu Vasile VV; Gorduza, Eusebiu Vlad EV

Publication Date: 2022

Variant appearance in text: rs4784675

PubMed Link: 36193191

Variant Present in the following documents:

• Main text
• jmdh-15-2153.pdf

View BVdb publication page

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Bardet-Biedl Syndrome-Multiple Kaleidoscope Images: Insight into Mechanisms of Genotype-Phenotype Correlations.

Genes

Florea, Laura L; Caba, Lavinia L; Gorduza, Eusebiu Vlad EV

Publication Date: 2021-08-29

Variant appearance in text: rs4784675

PubMed Link: 34573333

Variant Present in the following documents:

• Main text
• genes-12-01353.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: BBS2: 613-54C>G; rs4784675

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Association between gene polymorphisms and obesity and physical fitness in Korean children.

Biology Of Sport

Kim, Hyun Jun HJ; Lee, Sang Yeoup SY; Kim, Cheol Min CM

Publication Date: 2018-03

Variant appearance in text: rs4784675

PubMed Link: 30237658

Variant Present in the following documents:

• Main text
• JBS-35-70748.pdf

View BVdb publication page

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Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management.

Indian Journal Of Ophthalmology

Priya, Sathya S; Nampoothiri, Sheela S; Sen, Parveen P; Sripriya, S S

Publication Date: 2016-09

Variant appearance in text: rs4784675

PubMed Link: 27853007

Variant Present in the following documents:

• Main text

View BVdb publication page

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Candidate gene studies of diabetic retinopathy in human.

Molecular Biology Reports

Priščáková, Petra P; Minárik, Gabriel G; Repiská, Vanda V

Publication Date: 2016-12

Variant appearance in text: rs4784675

PubMed Link: 27730450

Variant Present in the following documents:

• Main text
• 11033_2016_Article_4075.pdf

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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: rs4784675

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2
• mmc3.xlsx, sheet 1

View BVdb publication page

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Molecular basis of the obesity associated with Bardet-Biedl syndrome.

Trends In Endocrinology And Metabolism: Tem

Guo, Deng-Fu DF; Rahmouni, Kamal K

Publication Date: 2011-07

Variant appearance in text: rs4784675

PubMed Link: 21514177

Variant Present in the following documents:

• Main text

View BVdb publication page

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