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Joseph Porrmann

Dresden University of Technology

12

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73

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Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.

2021 American Journal of Medical Genetics Part A
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Correction: Diagnostic value of partial exome sequencing in developmental disorders

2020 PLOS ONE
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The CD98 heavy chain is a marker and regulator of head and neck squamous cell carcinoma radiosensitivity

2019 Clinical Cancer Research
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Novel truncating PPM1D mutation in a patient with intellectual disability

2019 European Journal of Medical Genetics
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Targeted capture-based NGS is superior to multiplex PCR-based NGS for hereditary BRCA1 and BRCA2 gene analysis in FFPE tumor samples

2019 BMC Cancer
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Abstract 1410: Pedigree analysis equally identifies cases of pancreatic cancer in families withBRCA1andBRCA2mutations

2018 Cancer Research
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Novel PRPS1 gain‐of‐function mutation in a patient with congenital hyperuricemia and facial anomalies

2017 American Journal of Medical Genetics Part A
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Abstract LB-287: Identification of patients at risk for tumor predisposition syndromes based on the evaluation of sporadic cancer exome sequencing data: experiences from the NCT/DKTK MASTER program

2017 Cancer Research
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