Detlef Boehm

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

Tobias B. Haack, Katharina Danhauser, Birgit Haberberger et al. · Nature Genetics · 2010 · 248 citations

Mendelian Disorder, Identifies Acad9 Mutations, Genetic Disorder +8

Germline<i>NF1</i>Mutational Spectra and Loss-of-Heterozygosity Analyses in Patients with Pheochromocytoma and Neurofibromatosis Type 1

Birke Bausch, Wiktor Borozdin, Victor F. Mautner et al. · The Journal of Clinical Endocrinology & Metabolism · 2007 · 134 citations

Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dye

Detlef Boehm, Sabine Herold, Alma Kuechler et al. · Human Mutation · 2004 · 86 citations

Genetic Testing, Cytogenetics, Genetics +17

Exome Enrichment and SOLiD Sequencing of Formalin Fixed Paraffin Embedded (FFPE) Prostate Cancer Tissue

Roopika Menon, Mario C. Deng, Diana Boehm et al. · International Journal of Molecular Sciences · 2012 · 31 citations · Full text

Gross Genomic Rearrangement Involving the TSC2-PKD1 Contiguous Deletion Syndrome: Characterization of the Deletion Event by Quantitative Polymerase Chain Reaction Deletion Assay

Detlef Boehm, Janina Bacher, Hartmut P.H. Neumann · American Journal of Kidney Diseases · 2007 · 20 citations

Genetic Disorder, Genetics, Molecular Biology +8