Publications:

Whole-exome sequencing analysis identifies distinct mutational profile and novel prognostic biomarkers in primary gastrointestinal diffuse large B-cell lymphoma.

Experimental Hematology & Oncology

Li, Shan-Shan SS; Zhai, Xiao-Hui XH; Liu, Hai-Ling HL; Liu, Ting-Zhi TZ; Cao, Tai-Yuan TY; Chen, Dong-Mei DM; Xiao, Le-Xin LX; Gan, Xiao-Qin XQ; Cheng, Ke K; Hong, Wan-Jia WJ; Huang, Yan Y; Lian, Yi-Fan YF; Xiao, Jian J

Publication Date: 2022-10-15

Variant appearance in text: rs201943901

PubMed Link: 36243813

Variant Present in the following documents:

• 40164_2022_325_MOESM2_ESM.xlsx, sheet 1

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Common and rare variants in patients with early onset drusen maculopathy.

Clinical Genetics

de Breuk, Anita A; Lechanteur, Yara T E YTE; Astuti, Galuh G; Galbany, Jordi Corominas JC; Klaver, Caroline C W CCW; Hoyng, Carel B CB; den Hollander, Anneke I AI

Publication Date: 2022-11

Variant appearance in text: NOS1: 3320C>T; Thr1107Met

PubMed Link: 36053979

Variant Present in the following documents:

• CGE-102-414-s009.xlsx, sheet 1

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Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Frontiers In Genetics

Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS

Publication Date: 2019

Variant appearance in text: NOS1: T1107M; rs201943901

PubMed Link: 31681433

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 10

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A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development.

Molecular Psychiatry

Eising, Else E; Carrion-Castillo, Amaia A; Vino, Arianna A; Strand, Edythe A EA; Jakielski, Kathy J KJ; Scerri, Thomas S TS; Hildebrand, Michael S MS; Webster, Richard R; Ma, Alan A; Mazoyer, Bernard B; Francks, Clyde C; Bahlo, Melanie M; Scheffer, Ingrid E IE; Morgan, Angela T AT; Shriberg, Lawrence D LD; Fisher, Simon E SE

Publication Date: 2019-07

Variant appearance in text: NOS1: 3320C>T; T1107M

PubMed Link: 29463886

Variant Present in the following documents:

• 41380_2018_20_MOESM1_ESM.pdf

View BVdb publication page