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Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants2020 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
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Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics2020 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
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Validation of the BOADICEA model and a 313-variant polygenic risk score for breast cancer risk prediction in a Dutch prospective cohort2020 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
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Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers
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DLG4-related synaptopathy: a new rare brain disorder2021 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
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Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA22020 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
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The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant2021 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
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Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome2021 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
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Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants2021 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
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BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease2022 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Endoplasmic Reticulum Stress and Disease Open access
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Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein2022 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
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Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort2022 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
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Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence2023 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Luisa Averdunk, Maxim A. Huetzen, Daniel Moreno-Andrés, Reinhard Kalb, Shane A McKee, Tzung‐Chien Hsieh, +25 more
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Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot2021 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Congenital heart defects research Open access
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Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals2023 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
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