Postma, Alex Vincent

Top Publications

Top Publications Authored or Co-Authored by "Postma, Alex Vincent"

• Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

  Genetics in Medicine, Volume 23, No. 10, Year 2021, Citations 54
• Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly

  Nature Communications, Volume 10, No. 1, Article 1180, Year 2019, Citations 32
• Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death

  European Journal of Human Genetics, Volume 25, No. 6, Year 2017, Citations 24
• A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22

  Journal of Cardiovascular Electrophysiology, Volume 18, No. 10, Year 2007, Citations 7