Genetic testing

A highly accurate, low cost test for<i>BRCA1</i> mutations

Nathalie J. van Orsouw, Rahul K. Dhanda, Youssef Elhaji, Steven A. Narod, F P Li, Charis Eng, Jan Vijg

Citations: 37 • 1999

Search for correlations between <i>FBN1</i> genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome

Svend Rand‐Hendriksen, Lena Tjeldhorn, Rigmor Lundby, Svein Ove Semb, Jon Offstad, Kai Andersen, Odd Geiran, Benedicte Paus

Citations: 34 • 2007

Personalized medicine and genetic malpractice

Gary E. Marchant, Rachel A. Lindor

Citations: 31 • 2013

The Impact on Genetic Testing of Mutational Patterns of CFTR Gene in Different Clinical Macrocategories of Cystic Fibrosis

Marco Lucarelli, Sabina Maria Bruno, Silvia Pierandrei, Giampiero Ferraguti, Giancarlo Testino, Gessica Truglio, Roberto Ström, Serena Quattrucci

Citations: 21 • 2016

Using genetic information while protecting the privacy of the soul

James H. Moor

Citations: 19 • 1999

Novel fumarate hydratase mutation in a family with atypical uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer

Karen Wheeler, Dillon J. Warr, Sarah I. Warsetsky, Larry I. Barmat

Citations: 15 • 2015

Is preimplantation genetic testing for aneuploidy an essential tool for embryo selection or a costly ‘add-on’ of no clinical benefit?

Zev Rosenwaks, Alan H. Handyside

Citations: 13 • 2018

Population screening shows risk of inherited cancer and familial hypercholesterolemia in Oregon

Timothy O’Brien, Amiee Potter, Catherine C. Driscoll, Gregory Goh, John Letaw, Sarah McCabe, Jane Thanner, Arpita Kulkarni, Rossana Wong, Samuel Medica, Tiana Week, Jacob Buitrago, Aaron Larson, Katie Johnson Camacho, Kim Brown, Rachel Crist, Casey Conrad, Sara Evans-Dutson, Ryan Lutz, Asia Mitchell, Pavana Anur, Vanessa Serrato, Autumn Shafer, Lisa K. Marriott, Kelly Hamman, Amelia Mulford, Wojciech Wiszniewski, Jone E. Sampson, Andrew Adey, Brian J. O’Roak, Christina A. Harrington, Jackilen Shannon, Paul T. Spellman, C. Sue Richards

Citations: 13 • 2023

Automation of diagnostic genetic testing: Mutation detection by cyclic minisequencing

Katariina Alagrund, Arto Orpana

Citations: 2 • 2013