Publications:

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Maintenance of methylation profile in imprinting control regions in human induced pluripotent stem cells.

Clinical Epigenetics

Pham, A A; Selenou, C C; Giabicani, E E; Fontaine, V V; Marteau, S S; Brioude, F F; David, L L; Mitanchez, D D; Sobrier, M L ML; Netchine, I I

Publication Date: 2022-12-28

Variant appearance in text: rs3168310

PubMed Link: 36578048

Variant Present in the following documents:

• Main text
• 13148_2022_Article_1410.pdf

View BVdb publication page

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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: rs3168310

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Large parental differences in chromatin organization in pancreatic beta cell line explaining diabetes susceptibility effects.

Nature Communications

Jian, Xing X; Felsenfeld, Gary G

Publication Date: 2021-07-15

Variant appearance in text: rs3168310

PubMed Link: 34267199

Variant Present in the following documents:

• Main text
• 41467_2021_24635_MOESM1_ESM.pdf
• 41467_2021_Article_24635.pdf

View BVdb publication page

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Associations between Genotype-Diet Interactions and Weight Loss-A Systematic Review.

Nutrients

Bayer, Sandra S; Winkler, Vincent V; Hauner, Hans H; Holzapfel, Christina C

Publication Date: 2020-09-22

Variant appearance in text: rs3168310

PubMed Link: 32971836

Variant Present in the following documents:

• Main text
• nutrients-12-02891.pdf

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: rs3168310

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_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: rs3168310

PubMed Link: 29221171

Variant Present in the following documents:

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

View BVdb publication page

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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: rs3168310

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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Epigenetic and genetic variation at the IGF2/H19 imprinting control region on 11p15.5 is associated with cerebellum weight.

Epigenetics

Pidsley, Ruth R; Dempster, Emma E; Troakes, Claire C; Al-Sarraj, Safa S; Mill, Jonathan J

Publication Date: 2012-02

Variant appearance in text: rs3168310

PubMed Link: 22395465

Variant Present in the following documents:

• Main text

View BVdb publication page

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