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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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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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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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Expanding the mutation spectrum for Fraser syndrome: Identification of a novel heterozygous deletion in FRAS1

Gene, 2013-05, Vol.520 (2), p.194-197

2013

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FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations

Human mutation, 2009-02, Vol.30 (2), p.181-190

2009

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Rare co-occurrence of osteogenesis imperfecta type I and autosomal dominant polycystic kidney disease

World journal of pediatrics : WJP, 2016-11, Vol.12 (4), p.501-503

2016

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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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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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Truncating Wilms Tumor Suppressor Gene 1 Mutation in an XX Female with Adult-Onset Focal Segmental Glomerulosclerosis and Streak Ovaries: A Case Report

Nephron (2015), 2017, Vol.135 (1), p.72-76

2017

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Strong association of a common dihydropyrimidine dehydrogenase gene polymorphism with fluoropyrimidine-related toxicity in cancer patients

PloS one, 2008-12, Vol.3 (12), p.e4003-e4003

2008

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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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Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy

Pediatric nephrology (Berlin, West), 2016-06, Vol.31 (6), p.941-955

2016

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Next generation sequencing as a useful tool in the diagnostics of mosaicism in Alport syndrome

Gene, 2013-09, Vol.526 (2), p.474-477

2013

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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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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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Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD)

Nephrology, dialysis, transplantation, 2011-07, Vol.26 (7), p.2181-2188

2011

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Lessons From the EThIGII Trial: Proper Putative Benefit Assessment of Low-Molecular-Weight Heparin Treatment in M2/ANXA5 Haplotype Carriers

Clinical and applied thrombosis/hemostasis, 2017-01, Vol.23 (1), p.27-33

2017

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Dealing with the incidental finding of secondary variants by the example of SRNS patients undergoing targeted next-generation sequencing

Pediatric nephrology (Berlin, West), 2016-01, Vol.31 (1), p.73-81

2016

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Severe bleeding complications and multiple kidney transplants in a patient with tuberous sclerosis complex caused by a novel TSC2 missense variant

Croatian medical journal, 2017-12, Vol.58 (6), p.416-423

2017

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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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A novel interstitial deletion of 10q24.2q24.32 in a patient with renal coloboma syndrome

European journal of medical genetics, 2012-03, Vol.55 (3), p.211-215

2012

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Overexpression of Human Lecithin Cholesterol Acyltransferase Leads to Hyperalphalipoproteinemia in Transgenic Mice

The Journal of biological chemistry, 1995-05, Vol.270 (20), p.12269-12275

1995

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Relaunch der HGQN-Datenbank

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

2021

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Left Ventricular Non-Compaction Associated with a Genetic Variant of the CYP2C9 Gene

Heart, lung & circulation, 2006-08, Vol.15 (4), p.269-271

2006

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Liquid profiling – circulating nucleic acid diagnostics gains momentum

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

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

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

Expanding the mutation spectrum for Fraser syndrome: Identification of a novel heterozygous deletion in FRAS1

FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations

Rare co-occurrence of osteogenesis imperfecta type I and autosomal dominant polycystic kidney disease

Heterozygous COL4A3 Variants in Histologically Diagnosed Focal Segmental Glomerulosclerosis

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

Truncating Wilms Tumor Suppressor Gene 1 Mutation in an XX Female with Adult-Onset Focal Segmental Glomerulosclerosis and Streak Ovaries: A Case Report

Strong association of a common dihydropyrimidine dehydrogenase gene polymorphism with fluoropyrimidine-related toxicity in cancer patients

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

Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy

Next generation sequencing as a useful tool in the diagnostics of mosaicism in Alport syndrome

Genetic heterogeneity of cytogenetically normal AML with mutations of CEBPA

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

Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD)

Lessons From the EThIGII Trial: Proper Putative Benefit Assessment of Low-Molecular-Weight Heparin Treatment in M2/ANXA5 Haplotype Carriers

Dealing with the incidental finding of secondary variants by the example of SRNS patients undergoing targeted next-generation sequencing

Severe bleeding complications and multiple kidney transplants in a patient with tuberous sclerosis complex caused by a novel TSC2 missense variant

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

A novel interstitial deletion of 10q24.2q24.32 in a patient with renal coloboma syndrome

Overexpression of Human Lecithin Cholesterol Acyltransferase Leads to Hyperalphalipoproteinemia in Transgenic Mice

Relaunch der HGQN-Datenbank

Left Ventricular Non-Compaction Associated with a Genetic Variant of the CYP2C9 Gene

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