Luisa Mackenroth

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

Tomasz Żemojtel, Sebastian Köhler, Luisa Mackenroth et al. · Science Translational Medicine · 2014 · 266 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy

Alexandra Pinggera, Luisa Mackenroth, Andreas Rump et al. · Human Molecular Genetics · 2017 · 126 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

<i>PBX1</i> haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans

Pauline Le Tanno, Julie Breton, Marie Bidart et al. · Journal of Medical Genetics · 2017 · 60 citations

Medicine, Genetics, Molecular Genetics +17

Diagnostic value of partial exome sequencing in developmental disorders

Laura Gieldon, Luisa Mackenroth, Anne‐Karin Kahlert et al. · PLoS ONE · 2018 · 60 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

HBOC multi-gene panel testing: comparison of two sequencing centers

Christopher Schroeder, Ulrike Faust, Marc Sturm et al. · Breast Cancer Research and Treatment · 2015 · 45 citations

Life Sciences, Biology, Genetics +12