Publications:

Integrative genetic, genomic and transcriptomic analysis of heat shock protein and nuclear hormone receptor gene associations with spontaneous preterm birth.

Scientific Reports

Huusko, Johanna M JM; Tiensuu, Heli H; Haapalainen, Antti M AM; Pasanen, Anu A; Tissarinen, Pinja P; Karjalainen, Minna K MK; Zhang, Ge G; Christensen, Kaare K; Ryckman, Kelli K KK; Jacobsson, Bo B; Murray, Jeffrey C JC; Kingsmore, Stephen F SF; Hallman, Mikko M; Muglia, Louis J LJ; Rämet, Mika M

Publication Date: 2021-08-24

Variant appearance in text: rs144267558

PubMed Link: 34429451

Variant Present in the following documents:

• Main text
• 41598_2021_Article_96374.pdf

View BVdb publication page

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: rs144267558

PubMed Link: 31681433

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 10

View BVdb publication page

Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.

Human Mutation

Romano, Alessandro A; Tessa, Alessandra A; Barca, Amilcare A; Fattori, Fabiana F; de Leva, Maria Fulvia MF; Terracciano, Alessandra A; Storelli, Carlo C; Santorelli, Filippo Maria FM; Verri, Tiziano T

Publication Date: 2013-03

Variant appearance in text: rs144267558

PubMed Link: 23280630

Variant Present in the following documents:

• humu0034-0525-SD1.pdf

View BVdb publication page