Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines

• RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium

  2026 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer

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  citations
• An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants

  2026 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  0

  citations
• CRB1 ‐Associated Inherited Retinal Dystrophies: Prospective Natural History Study With 4 Years of Follow‐Up

  2026 Clinical and Experimental Ophthalmology article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access

  0

  citations
• Population and family data support TNNT2 p.Arg288Cys as an intermediate effect variant in hypertrophic cardiomyopathy

  2026 International Journal of Cardiology article Medicine Cardiomyopathy and Myosin Studies Open access

  0

  citations
• Expanding the phenotypic spectrum of MECOM -associated syndrome: rare variants are associated with syndromic pulmonary arterial hypertension

  2026 Journal of Medical Genetics article Medicine Pulmonary Hypertension Research and Treatments

  1

  citations
• Evidence for pathogenicity of BRCA2 c.8351G>A p.(Arg2784Gln) and the challenges in classification of pathogenic variants with reduced penetrance

  2025 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access

  1

  citations
• Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification

  2025 Nature Communications article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access

  11

  citations
• Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot Study

  2024 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access

  3

  citations
• Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification

  2024 medRxiv preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access

  3

  citations
• Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

  2024 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access

  101

  citations
• Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset

  2024 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access

  8

  citations
• Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

  2024 medRxiv preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access

  6

  citations
• Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity

  2023 Genome Medicine article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access

  14

  citations
• Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel

  2023 Genetics in Medicine article Medicine Genetic factors in colorectal cancer Open access

  36

  citations
• Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants

  2023 Clinical Chemistry article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access

  14

  citations
• Quality assurance within the context of genome diagnostics (a german perspective)

  2023 Medizinische Genetik article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  2

  citations
• Additional file 1 of Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity

  2023 Figshare dataset Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access

  0

  citations
• Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach

  2022 Human Mutation article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access

  9

  citations
• Minigene‐based splicing analysis and ACMG / AMP ‐based tentative classification of 56 ATM variants

  2022 The Journal of Pathology article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access

  23

  citations
• Splicing predictions, minigene analyses, and ACMG ‐ AMP clinical classification of 42 germline PALB2 splice‐site variants

  2021 The Journal of Pathology article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access

  24

  citations

20 results