Publications:

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Characterization of DNA Polymerase Genes in Amazonian Amerindian Populations.

Genes

Cohen-Paes, Amanda A; de Alcântara, Angélica Leite AL; de Souza Menezes, Elisa E; Moreira, Fabiano Cordeiro FC; Fernandes, Marianne Rodrigues MR; Guerreiro, João Farias JF; Ribeiro-Dos-Santos, Ândrea Â; Dos Santos, Sidney Emanuel Batista SEB; Santos, Ney Pereira Carneiro Dos NPCD

Publication Date: 2022-12-24

Variant appearance in text: rs4883544

PubMed Link: 36672794

Variant Present in the following documents:

• Main text
• genes-14-00053.pdf

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: rs4883544

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

View BVdb publication page

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Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

Frontiers In Pediatrics

Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y

Publication Date: 2022

Variant appearance in text: rs4883544

PubMed Link: 35899134

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: rs4883544

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3

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: POLE: 6657+284A>G; rs4883544

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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DNArCdb: A database of cancer biomarkers in DNA repair genes that includes variants related to multiple cancer phenotypes.

Dna Repair

Silvestrov, Pavel P; Maier, Sarah J SJ; Fang, Michelle M; Cisneros, G Andrés GA

Publication Date: 2018-10

Variant appearance in text: rs4883544

PubMed Link: 30098577

Variant Present in the following documents:

• Main text

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: rs4883544

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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: rs4883544

PubMed Link: 26549847

Variant Present in the following documents:

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

View BVdb publication page

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Genetic variants associated with development of TMD and its intermediate phenotypes: the genetic architecture of TMD in the OPPERA prospective cohort study.

The Journal Of Pain

Smith, Shad B SB; Mir, Ellen E; Bair, Eric E; Slade, Gary D GD; Dubner, Ronald R; Fillingim, Roger B RB; Greenspan, Joel D JD; Ohrbach, Richard R; Knott, Charles C; Weir, Bruce B; Maixner, William W; Diatchenko, Luda L

Publication Date: 2013-12

Variant appearance in text: rs4883544

PubMed Link: 24275226

Variant Present in the following documents:

• Main text

View BVdb publication page

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Potential genetic risk factors for chronic TMD: genetic associations from the OPPERA case control study.

The Journal Of Pain

Smith, Shad B SB; Maixner, Dylan W DW; Greenspan, Joel D JD; Dubner, Ronald R; Fillingim, Roger B RB; Ohrbach, Richard R; Knott, Charles C; Slade, Gary D GD; Bair, Eric E; Gibson, Dustin G DG; Zaykin, Dmitri V DV; Weir, Bruce S BS; Maixner, William W; Diatchenko, Luda L

Publication Date: 2011-11

Variant appearance in text: rs4883544

PubMed Link: 22074755

Variant Present in the following documents:

• Main text

View BVdb publication page

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