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: rs1770791

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: rs1770791

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_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: rs1770791

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.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: rs1770791

PubMed Link: 33420045

Variant Present in the following documents:

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

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: NRD1: L821L; rs1770791

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 and characterization of SEC24D as a susceptibility gene for hepatitis B virus infection.

Scientific Reports

Jiang, Xianzhong X; Zhang, Bin B; Zhao, Junsheng J; Xu, Yi Y; Han, Haijun H; Su, Kunkai K; Tao, Jingjing J; Fan, Rongli R; Zhao, Xinyi X; Li, Lanjuan L; Li, Ming D MD

Publication Date: 2019-09-17

Variant appearance in text: rs1770791

PubMed Link: 31530870

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome.

Journal Of Medical Genetics

Codina-Sola, Marta M; Costa-Roger, Mar M; Pérez-García, Debora D; Flores, Raquel R; Palacios-Verdú, Maria Gabriela MG; Cusco, Ivon I; Pérez-Jurado, Luis Alberto LA

Publication Date: 2019-12

Variant appearance in text: rs1770791

PubMed Link: 31413120

Variant Present in the following documents:

• jmedgenet-2019-106080supp001.pdf

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: rs1770791

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.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: NRDC: L821L; rs1770791

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 1

View BVdb publication page

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Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: NRD1: L821L; rs1770791

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: NRD1: L821L; rs1770791

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio

Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M

Publication Date: 2014

Variant appearance in text: NRD1: L821L; rs1770791

PubMed Link: 24490137

Variant Present in the following documents:

• mmc5.xlsx, sheet 2

View BVdb publication page

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: NRD1: L821L; rs1770791

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD3.xlsx, sheet 1

View BVdb publication page

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Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease.

Plos One

Jones, Lesley L; Holmans, Peter A PA; Hamshere, Marian L ML; Harold, Denise D; Moskvina, Valentina V; Ivanov, Dobril D; Pocklington, Andrew A; Abraham, Richard R; Hollingworth, Paul P; Sims, Rebecca R; Gerrish, Amy A; Pahwa, Jaspreet Singh JS; Jones, Nicola N; Stretton, Alexandra A; Morgan, Angharad R AR; Lovestone, Simon S; Powell, John J; Proitsi, Petroula P; Lupton, Michelle K MK; Brayne, Carol C; Rubinsztein, David C DC; Gill, Michael M; Lawlor, Brian B; Lynch, Aoibhinn A; Morgan, Kevin K; Brown, Kristelle S KS; Passmore, Peter A PA; Craig, David D; McGuinness, Bernadette B; Todd, Stephen S; Holmes, Clive C; Mann, David D; Smith, A David AD; Love, Seth S; Kehoe, Patrick G PG; Mead, Simon S; Fox, Nick N; Rossor, Martin M; Collinge, John J; Maier, Wolfgang W; Jessen, Frank F; Schürmann, Britta B; Heun, Reinhard R; Kölsch, Heike H; van den Bussche, Hendrik H; Heuser, Isabella I; Peters, Oliver O; Kornhuber, Johannes J; Wiltfang, Jens J; Dichgans, Martin M; Frölich, Lutz L; Hampel, Harald H; Hüll, Michael M; Rujescu, Dan D; Goate, Alison M AM; Kauwe, John S K JS; Cruchaga, Carlos C; Nowotny, Petra P; Morris, John C JC; Mayo, Kevin K; Livingston, Gill G; Bass, Nicholas J NJ; Gurling, Hugh H; McQuillin, Andrew A; Gwilliam, Rhian R; Deloukas, Panos P; Al-Chalabi, Ammar A; Shaw, Christopher E CE; Singleton, Andrew B AB; Guerreiro, Rita R; Mühleisen, Thomas W TW; Nöthen, Markus M MM; Moebus, Susanne S; Jöckel, Karl-Heinz KH; Klopp, Norman N; Wichmann, H-Erich HE; Rüther, Eckhard E; Carrasquillo, Minerva M MM; Pankratz, V Shane VS; Younkin, Steven G SG; Hardy, John J; O'Donovan, Michael C MC; Owen, Michael J MJ; Williams, Julie J

Publication Date: 2010-11-15

Variant appearance in text: rs1770791

PubMed Link: 21085570

Variant Present in the following documents:

• Main text
• pone.0013950.pdf

View BVdb publication page

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Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease.

American Journal Of Human Genetics

Oliveira, Sofia A SA; Li, Yi-Ju YJ; Noureddine, Maher A MA; Zuchner, Stephan S; Qin, Xuejun X; Pericak-Vance, Margaret A MA; Vance, Jeffery M JM

Publication Date: 2005-08

Variant appearance in text: rs1770791

PubMed Link: 15986317

Variant Present in the following documents:

• Main text

View BVdb publication page

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