Ricarda Flöttmann

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 · 259 citations

Evaluating the performance of the breast cancer genetic risk models BOADICEA, IBIS, BRCAPRO and Claus for predicting <i>BRCA1/2</i> mutation carrier probabilities: a study based on 7352 families from the German Hereditary Breast and Ovarian Cancer Consortium

Christine Fischer, Karoline Kuchenbäcker, Christoph Engel et al. · Journal of Medical Genetics · 2013 · 94 citations

Microduplications encompassing the Sonic hedgehog limb enhancer <scp>ZRS</scp> are associated with Haas‐type polysyndactyly and Laurin‐Sandrow syndrome

Silke B. Lohan, Malte Spielmann, Sandra C. Doelken et al. · Clinical Genetics · 2014 · 64 citations · Full text

Exome sequencing and CRISPR/Cas genome editing identify mutations of <i>ZAK</i> as a cause of limb defects in humans and mice

Malte Spielmann, Naseebullah Kakar, Naeimeh Tayebi et al. · Genome Research · 2016 · 60 citations · Full text

Noncoding copy-number variations are associated with congenital limb malformation

Ricarda Flöttmann, Bjørt K. Kragesteen, Sinje Geuer et al. · Genetics in Medicine · 2017 · 52 citations · Full text

Developmental Anomaly, Thumb Hypoplasia, Developmental Biology +6