Christiane Spaich

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

Johannes R. Lemke, Erik Riesch, Tim Scheurenbrand et al. · Epilepsia · 2012 · 321 citations · Full text

WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes

Axel Bohring, Thomas Stamm, Christiane Spaich et al. · The American Journal of Human Genetics · 2009 · 227 citations · Full text

Developmental Biology, Mendelian Disorder, Sex-biased Manifestation Pattern +11

Further delineation of the SATB2 phenotype

Dennis Döcker, Max Schubach, Moritz Menzel et al. · European Journal of Human Genetics · 2013 · 101 citations · Full text

Genetic Disorder, Genetics, Gene Characterization +4

Dosage-Dependent Severity of the Phenotype in Patients with Mental Retardation Due to a Recurrent Copy-Number Gain at Xq28 Mediated by an Unusual Recombination

Joke Vandewalle, Hilde Van Esch, Karen Govaerts et al. · The American Journal of Human Genetics · 2009 · 84 citations · Full text

Recurrent Copy-number Gain, Mendelian Disorder, Genetic Disorder +8

Genotype–phenotype spectrum of PYCR1-related autosomal recessive cutis laxa

Aikaterini Dimopoulou, Björn Fischer‐Zirnsak, Thatjana Gardeitchik et al. · Molecular Genetics and Metabolism · 2013 · 71 citations

Biology, Genetic Disorder, Genetics +6