Erwin Brosens

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Przemysław Szafrański, Tomasz Gambin, Avinash V. Dharmadhikari et al. · Human Genetics · 2016 · 170 citations · Full text

Medicine, Clinical Sciences, Pathology +13

Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder

Przemysław Szafrański, Avinash V. Dharmadhikari, Erwin Brosens et al. · Genome Research · 2012 · 161 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association

Pawaree Saisawat, Stefan Kohl, Alina C. Hilger et al. · Kidney International · 2013 · 128 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice

Danny Halim, Michael P. Wilson, Daniel Oliver et al. · Proceedings of the National Academy of Sciences · 2017 · 127 citations · Full text

Life Sciences, Cell Biology, Genetics +12

Recommendations for whole genome sequencing in diagnostics for rare diseases

Erika Souche, Sergi Beltrán, Erwin Brosens et al. · European Journal of Human Genetics · 2022 · 125 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17