Axel Bohring

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

Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies

Tobias Eisenberger, Christine Neuhaus, Arif O. Khan et al. · PLoS ONE · 2013 · 225 citations · Full text

Cnv Analysis, Genetics, Genetic Epidemiology +17

Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis

Zandra A. Jenkins, Margriet van Kogelenberg, Tim Morgan et al. · Nature Genetics · 2008 · 195 citations

Somatic Variant, Cancer Pathology, Mendelian Disorder +9

Hybrid Neurofibroma/Schwannoma is Overrepresented Among Schwannomatosis and Neurofibromatosis Patients

Anja Harder, Martin Wesemann, Christian Hagel et al. · The American Journal of Surgical Pathology · 2012 · 135 citations

Neuro-oncology, Tumoral Pathology, Peripheral Nerves +12

Novel<i>FOXF1</i>Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

Partha Sen, Yaping Yang, C. Navarro et al. · Human Mutation · 2013 · 114 citations · Full text

Developmental Anomaly, Developmental Biology, Mendelian Disorder +15