Publications:

Universal strategy for preimplantation genetic testing for cystic fibrosis based on next generation sequencing.

Journal Of Assisted Reproduction And Genetics

Chamayou, Sandrine S; Sicali, Maria M; Lombardo, Debora D; Alecci, Carmelita C; Ragolia, Carmen C; Maglia, Elena E; Liprino, Annalisa A; Cardea, Clementina C; Storaci, Giorgia G; Romano, Simona S; Guglielmino, Antonino A

Publication Date: 2020-01

Variant appearance in text: rs4148689

PubMed Link: 31828483

Variant Present in the following documents:

• 10815_2019_Article_1635.pdf

View BVdb publication page

Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs4148689

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

Pathway-based analysis using genome-wide association data from a Korean non-small cell lung cancer study.

Plos One

Lee, Donghoon D; Lee, Geon Kook GK; Yoon, Kyong-Ah KA; Lee, Jin Soo JS

Publication Date: 2013

Variant appearance in text: rs4148689

PubMed Link: 23762359

Variant Present in the following documents:

• Main text
• pone.0065396.pdf

View BVdb publication page

A new insertion/deletion of the cystic fibrosis transmembrane conductance regulator gene accounts for 3.4% of cystic fibrosis mutations in Sardinia: implications for population screening.

The Journal Of Molecular Diagnostics : Jmd

Faà, Valeria V; Bettoli, Pietro Pellegrini PP; Demurtas, Maria M; Zanda, Maurizio M; Ferri, Vincenzina V; Cao, Antonio A; Rosatelli, Maria Cristina MC

Publication Date: 2006-09

Variant appearance in text: rs4148689

PubMed Link: 16931591

Variant Present in the following documents:

• Main text

View BVdb publication page