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Publications by Detlev Schindler

Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-Tumor Phenotype

Cancer Research

English

FANCJ Suppresses Microsatellite Instability and Lymphomagenesis Independent of the Fanconi Anemia Pathway

Genes and Development

Developmental Biology

English

Mutations in ERCC4, Encoding the DNA-Repair Endonuclease XPF, Cause Fanconi Anemia

American Journal of Human Genetics

English

Genotype–phenotype Correlations in Ataxia Telangiectasia Patients With ATM C.3576G>A and C.8147T>C Mutations

Journal of Medical Genetics

English

ATM Protein-Dependent Phosphorylation of Rad50 Protein Regulates DNA Repair and Cell Cycle Control

Journal of Biological Chemistry

Molecular Biology

English

Clinical and Molecular Heterogeneity of RTEL1 Deficiency

Frontiers in Immunology

English

Somatic Alterations Compromised Molecular Diagnosis of DOCK8 Hyper-IgE Syndrome Caused by a Novel Intronic Splice Site Mutation

Scientific Reports

Multidisciplinary

English

A Novel McPh1 Isoform Complements the Defective Chromosome Condensation of Human McPH1-Deficient Cells

Multidisciplinary

English

Mutation Analysis of the ERCC4/FANCQ Gene in Hereditary Breast Cancer

Multidisciplinary

English

Human RAD50 Deficiency in a Nijmegen Breakage Syndrome-Like Disorder

American Journal of Human Genetics

English