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Gökhan Yigit

University of Göttingen
University of Cologne

60

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1638

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Single-cell transcription profiles in Bloom syndrome patients link BLM deficiency with altered condensin complex expression signatures

2021 bioRxiv
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RNF43 pathogenic Germline variant in a family with colorectal cancer.

2021 Clinical Genetics
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Author response for "RNF43 Pathogenic Germline Variant in a Family with Colorectal Cancer"

2021
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Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study

2021 American Journal of Medical Genetics Part A
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Survey of germline variants in cancer-associated genes in young adults with colorectal cancer.

2021 Genes, Chromosomes and Cancer
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Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology.

2021 Nature Communications
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Genomic basis of syndromic short stature in an Algerian patient cohort.

2021 American Journal of Medical Genetics Part A
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TRAIP regulates DNA double-strand break-induced ATM activation

2021 bioRxiv
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Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state.

2021 Journal of Medical Genetics
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Evidence of Pathogenicity for the Leaky Splice Variant c.1066-6T>G in ATM in a Patient with Variant Ataxia Telangiectasia

2021 Neuropediatrics
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