G. Schmidt

发表

MicroRNA-449a Inhibits Triple Negative Breast Cancer by Disturbing DNA Repair and Chromatid Separation

D. DeLuca, T. Illig, I. Hickson, 2022, International journal of molecular sciences.

Looking for the hidden mutation: Bannayan–Riley–Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A

D. Steinemann, M. Golas, B. Schlegelberger, 2019, American journal of medical genetics. Part A.

The identification of pathogenic variants in BRCA1/2 negative, high risk, hereditary breast and/or ovarian cancer patients: High frequency of FANCM pathogenic variants

D. Steinemann, E. Schröck, T. Illig, 2019, International journal of cancer.

Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers

A. Rump, J. Ramser, A. Meindl, 2022, BMC Cancer.

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry

Gary D Bader, C. Gieger, W. Maier, 2022, Cancers.

A novel NFKBIA variant substituting serine 36 of IκBα causes immunodeficiency with warts, bronchiectasis and juvenile rheumatoid arthritis in the absence of ectodermal dysplasia.

C. Klemann, R. Schmidt, F. Atschekzei, 2019, Clinical immunology.

MinION nanopore sequencing provides similar methylation estimates to Sanger bisulfite sequencing in the TRPA1 promoter region

F. Müller, H. Frieling, C. Davenport, 2021, bioRxiv.

A common ancestral DNMT3A-mutated preleukemic clone giving rise to AML and MDS in an adolescent girl

F. Thol, D. Reinhardt, I. Baumann, 2017, Leukemia & lymphoma.

Phenotypic spectrum in recessive STING-associated vasculopathy with onset in infancy: Four novel cases and analysis of previously reported cases

D. Steinemann, C. Klemann, D. Jonigk, 2022, Frontiers in Immunology.

From a variant of unknown significance to pathogenic: Reclassification of a large novel duplication in BRCA2 by high‐throughput sequencing

D. Steinemann, W. Hofmann, B. Schlegelberger, 2019, Molecular genetics & genomic medicine.

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer

J. Ramser, A. Meindl, R. Schmutzler, 2018, Breast Cancer Research.

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

Katherine M. Tucker, Sebastian A. Wagner, Kelly J. Sullivan, 2019, Human Mutation.

Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants

W. Chung, T. Fehm, T. Rebbeck, 2022, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

MDS1 and EVI1 complex locus (MECOM): a novel candidate gene for hereditary hematological malignancies

D. Steinemann, T. Illig, G. Wulf, 2017, Haematologica.

Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Cancer

Dieter Niederacher, Alfons Meindl, Norbert Arnold, 2020, Geburtshilfe und Frauenheilkunde.

De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopenia

D. Steinemann, W. Hofmann, B. Schlegelberger, 2020, Clinical genetics.

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Jane E. Carpenter, Jack A. Taylor, W. Chung, 2021, Nature Communications.

Common Variable Immunodeficiency-Associated Cancers: The Role of Clinical Phenotypes, Immunological and Genetic Factors

R. Schmidt, F. Atschekzei, T. Witte, 2022, Frontiers in Immunology.

Gene panel testing of 5589 BRCA1/2‐negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer

Nina Ditsch, Peter Nürnberg, Dieter Niederacher, 2018, Cancer medicine.

A morphomolecular approach to alveolar capillary dysplasia.

T. Welte, F. Laenger, M. Hoeper, 2022, The American journal of pathology.

Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients

F. Feuerhake, P. Andersen, S. Petri, 2021, Genes.

Jumping translocations: Short telomeres or pathogenic TP53 variants as underlying mechanism in acute myeloid leukemia and myelodysplastic syndrome?

B. Schlegelberger, G. Göhring, K. Thomay, 2019, Genes, chromosomes & cancer.

Performance of breast cancer polygenic risk scores in 760 female CHEK2 germline mutation carriers.

A. Antoniou, A. Rump, M. Schmidt, 2020, Journal of the National Cancer Institute.

Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity

D. Steinemann, H. Prokisch, T. Illig, 2018, Breast Cancer Research.

GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss

Damianos P. Melidis, W. Nejdl, A. Lesinski-Schiedat, 2021, bioRxiv.

Rare compound heterozygous variants in PNKP identified by whole exome sequencing in a German patient with ataxia‐oculomotor apraxia 4 and pilocytic astrocytoma

D. Steinemann, T. Illig, M. Golas, 2018, Clinical genetics.

Parallel deletion and duplication at 7q11.23 in a silent carrier for two reciprocal syndromic disorders

D. Steinemann, A. Bergmann, B. Schlegelberger, 2023, American journal of medical genetics. Part A.

Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis

A. Das, S. Illsinger, N. Janzen, 2017, Orphanet Journal of Rare Diseases.

Unbalanced translocation der(5;17) resulting in a TP53 loss as recurrent aberration in myelodysplastic syndrome and acute myeloid leukemia with complex karyotype

D. Steinemann, M. Heuser, F. Thol, 2021, Genes, chromosomes & cancer.

A holistic approach to maximise diagnostic output in trio exome sequencing

B. Auber, Hannah Wallaschek, G. Schmidt, 2023, Frontiers in Pediatrics.

A Novel Alu Element Insertion in ATM Induces Exon Skipping in Suspected HBOC Patients

D. Steinemann, T. Dörk, W. Hofmann, 2023, Human Mutation.

Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity

D. Steinemann, H. Prokisch, T. Illig, 2018, Breast Cancer Research.