Elke Holinski‐Feder

Validation structures for sequence variants of uncertain significance in hereditary cancer.

Reclassification of VUS in <i>BRCA1</i> and <i>BRCA2</i> using the new <i>BRCA1</i>/<i>BRCA2</i> ENIGMA track set demonstrates the superiority of ClinGen ENIGMA Expert Panel specifications over the standard ACMG/AMP classification system.

Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing

Next-Generation Sequencing in Congenital Eye Malformations: Identification of Genetic Causes and Comparison of Different Panel-Based Diagnostic Strategies.

A series of reviews in familial cancer: genetic cancer risk in context variants of uncertain significance in MMR genes: which procedures should be followed?

Updated Structure of <i>CNBP</i> Repeat Expansions in Patients With Myotonic Dystrophy Type 2 and Its Implication for Standard Diagnostics.

Optical Genome Mapping as a Potential Routine Clinical Diagnostic Method.

Parallel in-depth analysis of repeat expansions: an updated Clin-CATS workflow for nanopore R10 flow cells

Optical Genome Mapping as a Potential Routine Clinical Diagnostic Method

Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database

Dominantly inherited micro-satellite instable cancer – the four Lynch syndromes - an EHTG, PLSD position statement

Diagnostic yield and clinical relevance of expanded germline genetic testing for nearly 7000 suspected HBOC patients.

Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort

Impact of cfDNA Reference Materials on Clinical Performance of Liquid Biopsy NGS Assays.

The utility of liquid biopsy in clinical genetic diagnosis of cancer and monogenic mosaic disorders.

Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium

Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes

Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group.

Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report

No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study

Beta-2-microglobulin Mutations Are Linked to a Distinct Metastatic Pattern and a Favorable Outcome in Microsatellite-Unstable Stage IV Gastrointestinal Cancers

Early detection of duodenal cancer by upper <scp>gastrointestinal</scp>‐endoscopy in Lynch syndrome

Adenoma and colorectal cancer risks in Lynch syndrome, Lynch‐like syndrome and familial colorectal cancer type X

Associations of Pathogenic Variants in MLH1, MSH2, and MSH6 With Risk of Colorectal Adenomas and Tumors and With Somatic Mutations in Patients With Lynch Syndrome

The “unnatural” history of colorectal cancer in Lynch syndrome: Lessons from colonoscopy surveillance

Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report

Value of upper <scp>gastrointestinal</scp> endoscopy for gastric cancer surveillance in patients with Lynch syndrome

Age‐dependent performance of <scp> <i>BRAF</i> </scp> mutation testing in Lynch syndrome diagnostics