A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations
Brittany Wenger, Nihir Patel, Madeline Lui, Arden Moscati, Ron Do, Douglas R. Stewart, Marco Tartaglia, Laura Muiño Mosquera, Julie De Backer, Amy Kontorovich, Bruce D. Gelb
Topics & Concepts
BiobankShort statureGenotypingExome sequencingMedicineExomeMarfan syndromeMendelian inheritanceGenotypeGeneticsPopulationPhenotypeBioinformaticsInternal medicineBiologyGeneEnvironmental healthProtein Tyrosine PhosphatasesConnective tissue disorders researchProteoglycans and glycosaminoglycans research