Alexandra Topa

Improving Mutation Screening in Familial Hematuric Nephropathies through Next Generation Sequencing

Vincent Morinière, Karin Dahan, Pascale Hilbert et al. · Journal of the American Society of Nephrology · 2014 · 166 citations · Full text

Different mutations in <i>PDE4D</i> associated with developmental disorders with mirror phenotypes

Anna Lindstrand, Giedré Grigelioniené, Daniel Nilsson et al. · Journal of Medical Genetics · 2013 · 64 citations

<i>CTNND2</i>—a candidate gene for reading problems and mild intellectual disability

Wolfgang Hofmeister, Daniel Nilsson, Alexandra Topa et al. · Journal of Medical Genetics · 2014 · 42 citations

Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability

Claudio Reggiani, Sandra Coppens, Tayeb Sékhara et al. · Genome Medicine · 2017 · 39 citations · Full text

Novel myopathy in a newborn with Shwachman–Diamond syndrome and review of neonatal presentation

Alexandra Topa, M. Tulinius, Anders Oldfors et al. · American Journal of Medical Genetics Part A · 2016 · 18 citations