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German Society for Clinical Chemistry and Laboratory Medicine – areas of expertise: Division reports from the German Congress of Laboratory Medicine 2022 in Mannheim, 13–14 October 2022

Journal of laboratory medicine, 2024-02, Vol.48 (1), p.3-27

2024

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Development and clinical validation of a novel algorithmic score (GAAD) for detecting HCC in prospective cohort studies

Hepatology communications, 2023-11, Vol.7 (11)

2023

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FRI-300 - Development, clinical validation and implementation of a novel algorithmic score (GAAD) for the detection of early-stage hepatocellular carcinoma

Journal of hepatology, 2023-06, Vol.78, p.S507-S508

2023

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Development, clinical validation and implementation of a novel algorithmic score (GAAD) for the detection of early-stage hepatocellular carcinoma

Journal of hepatology, 2023-06, Vol.78, p.S507-S508

2023

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Liquid profiling – circulating nucleic acid diagnostics gains momentum

Journal of laboratory medicine, 2022-08, Vol.46 (4), p.203-205

2022

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A comparative analysis of Elecsys GALAD and Elecsys GAAD score to detect early-stage hepatocellular carcinoma in an international cohort

Journal of hepatology, 2022-07, Vol.77, p.S937

2022

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Performance evaluation of the Elecsys PIVKA‐II and Elecsys AFP assays for hepatocellular carcinoma diagnosis

JGH open, 2022-05, Vol.6 (5), p.292-300

2022

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Relaunch der HGQN-Datenbank

Medizinische Genetik, 2021-04, Vol.33 (1), p.107-108

2021

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Novel KCNH1 Mutations Associated with Epilepsy: Broadening the Phenotypic Spectrum of KCNH1 -Associated Diseases

Genes, 2021-01, Vol.12 (2), p.132

2021

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Understanding attitudes and behaviors towards cell-free DNA-based noninvasive prenatal testing (NIPT): A survey of European health-care providers

European journal of medical genetics, 2020-01, Vol.63 (1), p.103616-103616, Article 103616

2020

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Variant panorama in 1,385 index patients and sensitivity of expanded next-generation sequencing panels in arrhythmogenic disorders

Cardiovascular diagnosis and therapy, 2019-10, Vol.9 (S2), p.S292-S298

2019

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Limited sensitivity of NGS-based detection of unbalanced products from reciprocal translocations inpolar bodies and blastocysts

Reproductive biomedicine online, 2019-04, Vol.38, p.e33-e34

2019

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Genetic heterogeneity of cytogenetically normal AML with mutations of CEBPA

Blood advances, 2018-10, Vol.2 (20), p.2724-2731

2018

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Heterozygous COL4A3 Variants in Histologically Diagnosed Focal Segmental Glomerulosclerosis

Frontiers in pediatrics, 2018-06, Vol.6, p.171-171

2018

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German Guidelines for Molecular Genetic Diagnostic Testing Using High-throughput Technology, Such As Next-Generation Sequencing

OBM Genetics, 2018-04, Vol.2 (2), p.1-1

2018

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Multiple Integration and Data Annotation Study (MIDAS): improving next-generation sequencing data analysis by genotype-phenotype correlations

Laboratoriumsmedizin, 2018-04, Vol.42 (1), p.1-8

2018

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P-57 - Prenatalis® NIPT: accredited high resolution non-invasive prenatal testing by using massive parallel ultra- deep sequencing

Reproductive biomedicine online, 2018-03, Vol.36, p.e40-e40

2018

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Mutations in INF2 may be associated with renal histology other than focal segmental glomerulosclerosis

Pediatric nephrology (Berlin, West), 2018-03, Vol.33 (3), p.433-437

2018

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Prenatalis® NIPT: accredited high resolution non-invasive prenatal testing by using massive parallel ultra- deep sequencing

Reproductive biomedicine online, 2018-03, Vol.36, p.e40

2018

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Ethics of Cell-Free DNA-Based Prenatal Testing for Sex Chromosome Aneuploidies and Sex Determination

Noninvasive Prenatal Testing, 2018, p.251-268

2018

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Decisional Support for Expectant Parents

Noninvasive Prenatal Testing, 2018, p.217-233

2018

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Maternal Circulating Nucleic Acids as Markers of Placental Health

Noninvasive Prenatal Testing, 2018, p.333-351

2018

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Noninvasive Prenatal Testing (NIPT): Applied Genomics in Prenatal Screening and Diagnosis

Noninvasive Prenatal Testing (NIPT), 2018

2018

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Section 3: Clinical Integration

Noninvasive Prenatal Testing (NIPT), 2018

2018

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Fetal DNA in Maternal Plasma: An Amazing Two Decades

Noninvasive Prenatal Testing, 2018, p.3-5

2018

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German Society for Clinical Chemistry and Laboratory Medicine – areas of expertise: Division reports from the German Congress of Laboratory Medicine 2022 in Mannheim, 13–14 October 2022

Development and clinical validation of a novel algorithmic score (GAAD) for detecting HCC in prospective cohort studies

FRI-300 - Development, clinical validation and implementation of a novel algorithmic score (GAAD) for the detection of early-stage hepatocellular carcinoma

Development, clinical validation and implementation of a novel algorithmic score (GAAD) for the detection of early-stage hepatocellular carcinoma

Liquid profiling – circulating nucleic acid diagnostics gains momentum

A comparative analysis of Elecsys GALAD and Elecsys GAAD score to detect early-stage hepatocellular carcinoma in an international cohort

Performance evaluation of the Elecsys PIVKA‐II and Elecsys AFP assays for hepatocellular carcinoma diagnosis

Relaunch der HGQN-Datenbank

Novel KCNH1 Mutations Associated with Epilepsy: Broadening the Phenotypic Spectrum of KCNH1 -Associated Diseases

Understanding attitudes and behaviors towards cell-free DNA-based noninvasive prenatal testing (NIPT): A survey of European health-care providers

Variant panorama in 1,385 index patients and sensitivity of expanded next-generation sequencing panels in arrhythmogenic disorders

Limited sensitivity of NGS-based detection of unbalanced products from reciprocal translocations inpolar bodies and blastocysts

Genetic heterogeneity of cytogenetically normal AML with mutations of CEBPA

Heterozygous COL4A3 Variants in Histologically Diagnosed Focal Segmental Glomerulosclerosis

German Guidelines for Molecular Genetic Diagnostic Testing Using High-throughput Technology, Such As Next-Generation Sequencing

Multiple Integration and Data Annotation Study (MIDAS): improving next-generation sequencing data analysis by genotype-phenotype correlations

P-57 - Prenatalis® NIPT: accredited high resolution non-invasive prenatal testing by using massive parallel ultra- deep sequencing

Mutations in INF2 may be associated with renal histology other than focal segmental glomerulosclerosis

Prenatalis® NIPT: accredited high resolution non-invasive prenatal testing by using massive parallel ultra- deep sequencing

Ethics of Cell-Free DNA-Based Prenatal Testing for Sex Chromosome Aneuploidies and Sex Determination

Decisional Support for Expectant Parents

Maternal Circulating Nucleic Acids as Markers of Placental Health

Noninvasive Prenatal Testing (NIPT): Applied Genomics in Prenatal Screening and Diagnosis

Section 3: Clinical Integration

Fetal DNA in Maternal Plasma: An Amazing Two Decades

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