Breckpot, Jeroen

Top Publications

Top Publications Authored or Co-Authored by "Breckpot, Jeroen"

• Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

  Nature Genetics, Volume 48, No. 9, Year 2016, Citations 329
• Rare variants in NR2F2 cause congenital heart defects in humans

  American Journal of Human Genetics, Volume 94, No. 4, Year 2014, Citations 147
• Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

  Genetics in Medicine, Volume 20, No. 9, Year 2018, Citations 80
• An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

  American Journal of Human Genetics, Volume 109, No. 10, Year 2022, Citations 62
• Neuroimaging findings in Mowat-Wilson syndrome: A study of 54 patients

  Genetics in Medicine, Volume 19, No. 6, Year 2017, Citations 58