Evaluating the extent of reusability of CYP2C19 genotype data among patients genotyped for antiplatelet therapyselection
Beitelshees, Amber L ; Stevenson, James M ; El Rouby Nihal ; Dillon Chrisly ; Empey, Philip E ; Fielstein, Elliot M ; Johnson, Julie A ; Limdi, Nita A ; Ong, Henry H ; Franchi, Francesco ; Angiolillo, Dominick J ; Peterson, Joshua F ; Rosenman, Marc B ; Skaar, Todd C ; Tuteja Sony ; Cavallari, Larisa H
Genetics in medicine, 2020-11, Vol.22 (11), p.1898-1902
[Periódico revisado por pares]
Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
Hershberger, Ray E ; Givertz, Michael M ; Ho, Carolyn Y ; Judge, Daniel P ; Kantor, Paul F ; McBride, Kim L ; Morales, Ana ; Taylor, Matthew R G ; Vatta, Matteo ; Ware, Stephanie M
Genetics in medicine, 2018-09, Vol.20 (9), p.899-909
[Periódico revisado por pares]
Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants
Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility
Catucci, Irene ; Osorio, Ana ; Arver, Brita ; Neidhardt, Guido ; Bogliolo, Massimo ; Zanardi, Federica ; Riboni, Mirko ; Minardi, Simone ; Pujol, Roser ; Azzollini, Jacopo ; Peissel, Bernard ; Manoukian, Siranoush ; De Vecchi, Giovanna ; Casola, Stefano ; Hauke, Jan ; Richters, Lisa ; Rhiem, Kerstin ; Schmutzler, Rita K ; Wallander, Karin ; Törngren, Therese ; Borg, Åke ; Radice, Paolo ; Surrallés, Jordi ; Hahnen, Eric ; Ehrencrona, Hans ; Kvist, Anders ; Benitez, Javier ; Peterlongo, Paolo
Genetics in medicine, 2018-04, Vol.20 (4), p.452-457
[Periódico revisado por pares]