Publications:

The suitability of matrix assisted laser desorption/ionization time of flight mass spectrometry in a laboratory developed test using cystic fibrosis carrier screening as a model.

The Journal Of Molecular Diagnostics : Jmd

Farkas, Daniel H DH; Miltgen, Nicholas E NE; Stoerker, Jay J; van den Boom, Dirk D; Highsmith, W Edward WE; Cagasan, Lesley L; McCullough, Ron R; Mueller, Reinhold R; Tang, Lin L; Tynan, John J; Tate, Courtney C; Bombard, Allan A

Publication Date: 2010-09

Variant appearance in text: CFTR: 3437delC

PubMed Link: 20616359

Variant Present in the following documents:

• Main text

View BVdb publication page

Development of genomic reference materials for cystic fibrosis genetic testing.

The Journal Of Molecular Diagnostics : Jmd

Pratt, Victoria M VM; Caggana, Michele M; Bridges, Christina C; Buller, Arlene M AM; DiAntonio, Lisa L; Highsmith, W Edward WE; Holtegaard, Leonard M LM; Muralidharan, Kasinathan K; Rohlfs, Elizabeth M EM; Tarleton, Jack J; Toji, Lorraine L; Barker, Shannon D SD; Kalman, Lisa V LV

Publication Date: 2009-05

Variant appearance in text: CFTR: 3437delC

PubMed Link: 19359498

Variant Present in the following documents:

• Main text

View BVdb publication page

Standard mutation nomenclature in molecular diagnostics: practical and educational challenges.

The Journal Of Molecular Diagnostics : Jmd

Ogino, Shuji S; Gulley, Margaret L ML; den Dunnen, Johan T JT; Wilson, Robert B RB; ,

Publication Date: 2007-02

Variant appearance in text: CFTR: 3437delC; Ala1146ValfsX2

PubMed Link: 17251329

Variant Present in the following documents:

• Main text

View BVdb publication page