Stephanie Spranger

Mutations in the Pericentrin ( <i>PCNT</i> ) Gene Cause Primordial Dwarfism

Anita Rauch, Christian T. Thiel, Detlev Schindler et al. · Science · 2008 · 392 citations

Biology, Pcnt Results, Developmental Biology +10

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

Víctor L. Ruiz‐Pérez, Susan Ide, Tim M. Strom et al. · Nature Genetics · 2000 · 350 citations

Developmental Anomaly, Mendelian Disorder, Genetic Disorder +7

RAD21 Mutations Cause a Human Cohesinopathy

Matthew A. Deardorff, Jonathan J. Wilde, Melanie Albrecht et al. · The American Journal of Human Genetics · 2012 · 267 citations · Full text

Rad21 Mutations Cause, Genetic Disorder, Genetics +4

Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation

Özge Altug Teber, Gabriele Gillessen‐Kaesbach, Sven Fischer et al. · European Journal of Human Genetics · 2004 · 178 citations · Full text

Developmental Anomaly, Molecular Diagnostic Techniques, Mendelian Disorder +9

Next-generation sequencing in X-linked intellectual disability

Andreas Tzschach, Ute Grasshoff, Stefanie Beck‐Woedl et al. · European Journal of Human Genetics · 2015 · 149 citations · Full text

Sequencing, Mendelian Disorder, Genetic Disorder +7