Publications:

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Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: rs2233921

PubMed Link: 36269797

Variant Present in the following documents:

• ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1

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: rs2233921

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: rs2233921

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

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: rs2233921

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: rs2233921

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

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: rs2233921

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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MicroRNA-binding site polymorphisms and risk of colorectal cancer: A systematic review and meta-analysis.

Cancer Medicine

Gholami, Morteza M; Larijani, Bagher B; Sharifi, Farshad F; Hasani-Ranjbar, Shirin S; Taslimi, Reza R; Bastami, Milad M; Atlasi, Rasha R; Amoli, Mahsa M MM

Publication Date: 2019-12

Variant appearance in text: rs2233921

PubMed Link: 31637880

Variant Present in the following documents:

• Main text

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: rs2233921

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of a Prognostic Signature Associated With DNA Repair Genes in Ovarian Cancer.

Frontiers In Genetics

Sun, Hengzi H; Cao, Dongyan D; Ma, Xiangwen X; Yang, Jiaxin J; Peng, Peng P; Yu, Mei M; Zhou, Huimei H; Zhang, Ying Y; Li, Lei L; Huo, Xiao X; Shen, Keng K

Publication Date: 2019

Variant appearance in text: rs2233921

PubMed Link: 31572446

Variant Present in the following documents:

• Main text
• fgene-10-00839.pdf

View BVdb publication page

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Functional microRNA binding site variants.

Molecular Oncology

Yuan, Ye Y; Weidhaas, Joanne B JB

Publication Date: 2019-01

Variant appearance in text: rs2233921

PubMed Link: 30536617

Variant Present in the following documents:

• Main text
• MOL2-13-4.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: rs2233921

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: rs2233921

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4
• oncotarget-08-95841-s002.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: rs2233921

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Recent omics technologies and their emerging applications for personalised medicine.

Iet Systems Biology

Kim, Dong-Hyuk DH; Kim, Young-Sook YS; Son, Nam-Il NI; Kang, Chan-Koo CK; Kim, Ah-Ram AR

Publication Date: 2017-06

Variant appearance in text: rs2233921

PubMed Link: 28518059

Variant Present in the following documents:

• Main text

View BVdb publication page

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Predictive and Prognostic Molecular Biomarkers for Response to Neoadjuvant Chemoradiation in Rectal Cancer.

International Journal Of Molecular Sciences

Dayde, Delphine D; Tanaka, Ichidai I; Jain, Rekha R; Tai, Mei Chee MC; Taguchi, Ayumu A

Publication Date: 2017-03-07

Variant appearance in text: rs2233921

PubMed Link: 28272347

Variant Present in the following documents:

• Main text
• ijms-18-00573.pdf

View BVdb publication page

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A polymorphism in the base excision repair gene PARP2 is associated with differential prognosis by chemotherapy among postmenopausal breast cancer patients.

Bmc Cancer

Seibold, Petra P; Schmezer, Peter P; Behrens, Sabine S; Michailidou, Kyriaki K; Bolla, Manjeet K MK; Wang, Qin Q; Flesch-Janys, Dieter D; Nevanlinna, Heli H; Fagerholm, Rainer R; Aittomäki, Kristiina K; Blomqvist, Carl C; Margolin, Sara S; Mannermaa, Arto A; Kataja, Vesa V; Kosma, Veli-Matti VM; Hartikainen, Jaana M JM; Lambrechts, Diether D; Wildiers, Hans H; Kristensen, Vessela V; Alnæs, Grethe Grenaker GG; Nord, Silje S; Borresen-Dale, Anne-Lise AL; Hooning, Maartje J MJ; Hollestelle, Antoinette A; Jager, Agnes A; Seynaeve, Caroline C; Li, Jingmei J; Liu, Jianjun J; Humphreys, Keith K; Dunning, Alison M AM; Rhenius, Valerie V; Shah, Mitul M; Kabisch, Maria M; Torres, Diana D; Ulmer, Hans-Ulrich HU; Hamann, Ute U; Schildkraut, Joellen M JM; Purrington, Kristen S KS; Couch, Fergus J FJ; Hall, Per P; Pharoah, Paul P; Easton, Doug F DF; Schmidt, Marjanka K MK; Chang-Claude, Jenny J; Popanda, Odilia O

Publication Date: 2015-12-16

Variant appearance in text: rs2233921

PubMed Link: 26674097

Variant Present in the following documents:

• Main text
• 12885_2015_Article_1957.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: rs2233921

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

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: rs2233921

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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MicroRNA binding site polymorphisms as biomarkers in cancer management and research.

Pharmacogenomics And Personalized Medicine

Cipollini, Monica M; Landi, Stefano S; Gemignani, Federica F

Publication Date: 2014

Variant appearance in text: rs2233921

PubMed Link: 25114582

Variant Present in the following documents:

• Main text
• pgpm-7-173.pdf

View BVdb publication page

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Identification of novel SNPs in glioblastoma using targeted resequencing.

Plos One

Keller, Andreas A; Harz, Christian C; Matzas, Mark M; Meder, Benjamin B; Katus, Hugo A HA; Ludwig, Nicole N; Fischer, Ulrike U; Meese, Eckart E

Publication Date: 2011

Variant appearance in text: rs2233921

PubMed Link: 21695249

Variant Present in the following documents:

• pone.0018158.s001.xls, sheet 5

View BVdb publication page

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