Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs5479

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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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: HSD11B2: T156T

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2

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A Gene-Environment Interaction Between Smoking and Gene polymorphisms Provides a High Risk of Two Subgroups of Sarcoidosis.

Scientific Reports

Rivera, Natalia V NV; Patasova, Karina K; Kullberg, Susanna S; Diaz-Gallo, Lina Marcela LM; Iseda, Tomoko T; Bengtsson, Camilla C; Alfredsson, Lars L; Eklund, Anders A; Kockum, Ingrid I; Grunewald, Johan J; Padyukov, Leonid L

Publication Date: 2019-12-09

Variant appearance in text: rs5479

PubMed Link: 31819081

Variant Present in the following documents:

• Main text
• 41598_2019_Article_54612.pdf

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: N/A

PubMed Link: 31597922

Variant Present in the following documents:

View BVdb publication page

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A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: HSD11B2: 468C>A

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Sodium sensitivity of blood pressure in Chinese populations.

Journal Of Human Hypertension

Liu, Yang Y; Shi, Mengyao M; Dolan, Jacquelyn J; He, Jiang J

Publication Date: 2020-02

Variant appearance in text: rs5479

PubMed Link: 30631129

Variant Present in the following documents:

• Main text

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Pharmacogenetics of steroid-responsive acute graft-versus-host disease.

Clinical Transplantation

Arora, Mukta M; Weisdorf, Daniel J DJ; Shanley, Ryan M RM; Thyagarajan, Bharat B

Publication Date: 2017-05

Variant appearance in text: rs5479

PubMed Link: 28266732

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphisms in genes in the androgen pathway and risk of Barrett's esophagus and esophageal adenocarcinoma.

International Journal Of Cancer

Ek, Weronica E WE; Lagergren, Katarina K; Cook, Michael M; Wu, Anna H AH; Abnet, Christian C CC; Levine, David D; Chow, Wong-Ho WH; Bernstein, Leslie L; Risch, Harvey A HA; Shaheen, Nicholas J NJ; Bird, Nigel C NC; Corley, Douglas A DA; Hardie, Laura J LJ; Fitzgerald, Rebecca C RC; Gammon, Marilie D MD; Romero, Yvonne Y; Liu, Geoffrey G; Ye, Weimin W; Vaughan, Thomas L TL; MacGregor, Stuart S; Whiteman, David C DC; Westberg, Lars L; Lagergren, Jesper J

Publication Date: 2016-03-01

Variant appearance in text: rs5479

PubMed Link: 26414697

Variant Present in the following documents:

• Main text

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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: N/A

PubMed Link: 25390934

Variant Present in the following documents:

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Genetic variants in the renin-angiotensin-aldosterone system and salt sensitivity of blood pressure.

Journal Of Hypertension

Gu, Dongfeng D; Kelly, Tanika N TN; Hixson, James E JE; Chen, Jing J; Liu, Depei D; Chen, Ji-chun JC; Rao, Dabeeru C DC; Mu, Jianjun J; Ma, Jixiang J; Jaquish, Cashell E CE; Rice, Treva K TK; Gu, Charles C; Hamm, L Lee LL; Whelton, Paul K PK; He, Jiang J

Publication Date: 2010-06

Variant appearance in text: rs5479

PubMed Link: 20486282

Variant Present in the following documents:

• Main text

View BVdb publication page

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