Publications:

---

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: rs25486

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

View BVdb publication page

---

Haplotypes of single cancer driver genes and their local ancestry in a highly admixed long-lived population of Northeast Brazil.

Genetics And Molecular Biology

Galisa, Steffany Larissa Galdino SLG; Jacob, Priscila Lima PL; Farias, Allysson Allan de AA; Lemes, Renan Barbosa RB; Alves, Leandro Ucela LU; Nóbrega, Júlia Cristina Leite JCL; Zatz, Mayana M; Santos, Silvana S; Weller, Mathias M

Publication Date: 2022

Variant appearance in text: rs25486

PubMed Link: 35112701

Variant Present in the following documents:

• Main text
• 1415-4757-GMB-45-1-e20210172-s6.pdf
• 1415-4757-GMB-45-1-e20210172-s4.pdf
• 1415-4757-GMB-45-1-e20210172.pdf

View BVdb publication page

---

Haplotypes of single cancer driver genes and their local ancestry in a highly admixed long-lived population of Northeast Brazil.

Genetics And Molecular Biology

Galisa, Steffany Larissa Galdino SLG; Jacob, Priscila Lima PL; Farias, Allysson Allan de AA; Lemes, Renan Barbosa RB; Alves, Leandro Ucela LU; Nóbrega, Júlia Cristina Leite JCL; Zatz, Mayana M; Santos, Silvana S; Weller, Mathias M

Publication Date: 2022

Variant appearance in text: rs25486

PubMed Link: 35112701

Variant Present in the following documents:

• Main text
• 1415-4757-GMB-45-1-e20210172-s6.pdf
• 1415-4757-GMB-45-1-e20210172-s4.pdf
• 1415-4757-GMB-45-1-e20210172.pdf

View BVdb publication page

---

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: rs25486

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

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: rs25486

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

---

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: rs25486

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

---

Meta-Analysis of Polymorphic Variants Conferring Genetic Risk to Cervical Cancer in Indian Women Supports CYP1A1 as an Important Associated Locus

Asian Pacific Journal Of Cancer Prevention : Apjcp

Sengupta, Debmalya D; Guha, Udayan U; Mitra, Sagnik S; Ghosh, Sampurna S; Bhattacharjee, Samsiddhi S; Sengupta, Mainak M

Publication Date: 2018-08-24

Variant appearance in text: rs25486

PubMed Link: 30139066

Variant Present in the following documents:

• Main text
• APJCP-19-2071.pdf

View BVdb publication page

---

Genetic predisposition to lung cancer: comprehensive literature integration, meta-analysis, and multiple evidence assessment of candidate-gene association studies.

Scientific Reports

Wang, Junjun J; Liu, Qingyun Q; Yuan, Shuai S; Xie, Weijia W; Liu, Yuan Y; Xiang, Ying Y; Wu, Na N; Wu, Long L; Ma, Xiangyu X; Cai, Tongjian T; Zhang, Yao Y; Sun, Zhifu Z; Li, Yafei Y

Publication Date: 2017-08-21

Variant appearance in text: rs25486

PubMed Link: 28827732

Variant Present in the following documents:

• 41598_2017_7737_MOESM1_ESM.pdf

View BVdb publication page

---

Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: rs25486

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

---

Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer

Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F

Publication Date: 2017-05-12

Variant appearance in text: rs25486

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

View BVdb publication page

---

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: rs25486

PubMed Link: 26549847

Variant Present in the following documents:

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

View BVdb publication page

---

DNA repair genotype and lung cancer risk in the beta-carotene and retinol efficacy trial.

International Journal Of Molecular Epidemiology And Genetics

Doherty, Jennifer A JA; Sakoda, Lori C LC; Loomis, Melissa M MM; Barnett, Matt J MJ; Julianto, Liberto L; Thornquist, Mark D MD; Neuhouser, Marian L ML; Weiss, Noel S NS; Goodman, Gary E GE; Chen, Chu C

Publication Date: 2013

Variant appearance in text: rs25486

PubMed Link: 23565320

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Single-nucleotide polymorphisms in DNA repair genes and association with breast cancer risk in the web study.

Carcinogenesis

Roberts, Michelle R MR; Shields, Peter G PG; Ambrosone, Christine B CB; Nie, Jing J; Marian, Catalin C; Krishnan, Shiva S SS; Goerlitz, David S DS; Modali, Ramakrishna R; Seddon, Michael M; Lehman, Teresa T; Amend, Kandace L KL; Trevisan, Maurizio M; Edge, Stephen B SB; Freudenheim, Jo L JL

Publication Date: 2011-08

Variant appearance in text: rs25486

PubMed Link: 21622940

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Base excision repair genes and risk of lung cancer among San Francisco Bay Area Latinos and African-Americans.

Carcinogenesis

Chang, Jeffrey S JS; Wrensch, Margaret R MR; Hansen, Helen M HM; Sison, Jennette D JD; Aldrich, Melinda C MC; Quesenberry, Charles P CP; Seldin, Michael F MF; Kelsey, Karl T KT; Wiencke, John K JK

Publication Date: 2009-01

Variant appearance in text: rs25486

PubMed Link: 19029194

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.

American Journal Of Epidemiology

Chang, Man-Huei MH; Lindegren, Mary Lou ML; Butler, Mary A MA; Chanock, Stephen J SJ; Dowling, Nicole F NF; Gallagher, Margaret M; Moonesinghe, Ramal R; Moore, Cynthia A CA; Ned, Renée M RM; Reichler, Mary R MR; Sanders, Christopher L CL; Welch, Robert R; Yesupriya, Ajay A; Khoury, Muin J MJ; ,

Publication Date: 2009-01-01

Variant appearance in text: rs25486

PubMed Link: 18936436

Variant Present in the following documents:

• Main text
• kwn286_1.pdf
• kwn286.pdf

View BVdb publication page

---