J. Wagner

发表

Targeted capture-based NGS is superior to multiplex PCR-based NGS for hereditary BRCA1 and BRCA2 gene analysis in FFPE tumor samples

E. Schröck, D. Aust, A. Rump, 2019, BMC Cancer.

Novel truncating PPM1D mutation in a patient with intellectual disability.

A. Rump, A. Tzschach, K. Hackmann, 2019, European journal of medical genetics.

Female phenotype and multiple abnormalities in sibs with a Y chromosome and partial X chromosome duplication: H--Y antigen and Xg blood group findings.

S. Wachtel, T. Jenkins, G. Dewald, 1980, Journal of medical genetics.

Two unrelated children with distal long arm deletion of chromosome 7: clinical features, cytogenetic and gene marker studies

T. Jenkins, T. Jenkins, R. Bernstein, 1980, Clinical genetics.

Noncoding copy-number variations are associated with congenital limb malformation

D. Horn, S. Mundlos, M. Spielmann, 2017, Genetics in Medicine.

Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type

D. Horn, S. Mundlos, M. Spielmann, 2015, Journal of Medical Genetics.

X-Y translocation in a retarded phenotypic male. Clinical, cytogenetic, biochemical, and serogenetic studies.

T. Jenkins, G. Nurse, R. Bernstein, 1978, Journal of medical genetics.

Diagnostic value of partial exome sequencing in developmental disorders

A. Rump, B. Klink, S. Markus, 2018, PloS one.

Segregation patterns and phenotypes of unbalanced offspring in a large family with (10;18) chromosome translocation.

T. Jenkins, M. Pinto, R. Bernstein, 1985, American journal of medical genetics.

Optimizing Genetic Workup in Pheochromocytoma and Paraganglioma by Integrating Diagnostic and Research Approaches

E. Schröck, D. Aust, A. Rump, 2019, Cancers.

Diogenes syndrome and hoarding in the elderly: case reports.

P. Berkman, J. Wagner, J. Stelian, 1999, The Israel journal of psychiatry and related sciences.

A frameshift mutation in BRCA1 leads to hereditary breast and ovarian cancer in one part of a family and to familial pancreatic cancer in another

A. Rump, L. Gieldon, J. Wagner, 2017, Breast Cancer Research and Treatment.

The genetic landscape of axonal neuropathies in the middle-aged and elderly

B. Schlotter-Weigel, T. Strom, S. Züchner, 2020, Neurology.

Correction: Diagnostic value of partial exome sequencing in developmental disorders

A. Rump, B. Klink, S. Markus, 2020, PloS one.

Targeted capture-based NGS is superior to multiplex PCR-based NGS for hereditary BRCA1 and BRCA2 gene analysis in FFPE tumor samples

E. Schröck, D. Aust, A. Rump, 2019, BMC Cancer.