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A new era of treatment for primary hyperoxaluria type 1

Nature reviews. Nephrology, 2021-09, Vol.17 (9), p.573-574

2021

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cfNOMe - A single assay for comprehensive epigenetic analyses of cell-free DNA

Genome medicine, 2020-06, Vol.12 (1), p.54-54, Article 54

2020

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Carrier testing for autosomal recessive disorders: a look at current practice in Germany

Medizinische Genetik, 2021-04, Vol.33 (1), p.13-19

2021

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The adult phenotype of Schaaf-Yang syndrome

Orphanet journal of rare diseases, 2020-10, Vol.15 (1), p.1-294, Article 294

2020

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Monogene Formen der arteriellen Hypertonie

Medizinische Genetik, 2018, Vol.30 (4), p.391-399

Erger, Florian

2018

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Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions

Genome medicine, 2023-08, Vol.15 (1), p.1-62, Article 62

2023

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Case Report: Exome Sequencing Reveals LRBA Deficiency in a Patient With End-Stage Renal Disease

Frontiers in pediatrics, 2020-03, Vol.8, p.42

2020

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Monogene Formen der arteriellen Hypertonie

Medizinische Genetik, 2018-12, Vol.30 (4), p.391-399

Erger, Florian

2018

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Disconnected Cardiac Autonomic Nerves in Genetic Ganglionic Acetylcholine Receptor Alpha-3 Subunit Deficiency

Hypertension (Dallas, Tex. 1979), 2023-08, Vol.80 (8), p.e137

2023

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Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach

Molecular and cellular probes, 2019-06, Vol.45, p.84-88

2019

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Patients with primary hyperoxaluria type 2 have significant morbidity and require careful follow-up

Kidney international, 2019-12, Vol.96 (6), p.1389-1399

2019

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Uniparental isodisomy as a cause of recessive Mendelian disease: a diagnostic pitfall with a quick and easy solution in medium/large NGS analyses

European journal of human genetics : EJHG, 2018-09, Vol.26 (9), p.1392-1395

2018

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Alport syndrome and autosomal dominant tubulointerstitial kidney disease frequently underlie end stage renal disease of unknown origin - a single center analysis

Nephrology, dialysis, transplantation, 2022-09, Vol.37 (10), p.1895-1905

2022

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The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping

American journal of human genetics, 2019-04, Vol.104 (4), p.749-757

2019

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Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases

Archives of gynecology and obstetrics, 2017-04, Vol.295 (4), p.897-906

2017

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Copeptin in autosomal dominant polycystic kidney disease: real-world experiences from a large prospective cohort study

Clinical kidney journal, 2023-11, Vol.16 (11), p.2194

2023

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Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

American journal of human genetics, 2019-08, Vol.105 (2), p.384-394

2019

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Germline C1GALT1C1 mutation causes a multisystem chaperonopathy

Proceedings of the National Academy of Sciences - PNAS, 2023-05, Vol.120 (22), p.e2211087120-e2211087120

2023

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Unraveling Structural Rearrangements of the CFH Gene Cluster in Atypical Hemolytic Uremic Syndrome Patients Using Molecular Combing and Long-Fragment Targeted Sequencing

The Journal of molecular diagnostics : JMD, 2022-06, Vol.24 (6), p.619-631

2022

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A heritable microduplication encompassing TBL1XR1 causes a genomic sister‐disorder for the 3q26.32 microdeletion syndrome

American journal of medical genetics. Part A, 2017-08, Vol.173 (8), p.2132-2138

2017

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Long-term data on two sisters with C3GN due to an identical, homozygous CFH mutation and autoantibodies

Clinical nephrology, 2020-10, Vol.94 (4), p.197

2020

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Features of Postpartum Hemorrhage-Associated Thrombotic Microangiopathy and Role of Short-Term Complement Inhibition

Kidney international reports, 2024-04, Vol.9 (4), p.919-928

2024

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Copeptin in autosomal dominant polycystic kidney disease: real-world experiences from a large prospective cohort study

Clinical kidney journal, 2023-11, Vol.16 (11), p.2194-2204

2023

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Still diagnosed too late and under-recognized? A first comprehensive report on primary hyperoxaluria from Poland

Polskie archiwum medycyny wewne̦trznej, 2020-12

2020

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A new era of treatment for primary hyperoxaluria type 1

cfNOMe - A single assay for comprehensive epigenetic analyses of cell-free DNA

Carrier testing for autosomal recessive disorders: a look at current practice in Germany

The adult phenotype of Schaaf-Yang syndrome

Monogene Formen der arteriellen Hypertonie

Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions

Case Report: Exome Sequencing Reveals LRBA Deficiency in a Patient With End-Stage Renal Disease

Monogene Formen der arteriellen Hypertonie

Long‐lived macrophage reprogramming drives spike protein‐mediated inflammasome activation in COVID‐19

Disconnected Cardiac Autonomic Nerves in Genetic Ganglionic Acetylcholine Receptor Alpha-3 Subunit Deficiency

Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach

Patients with primary hyperoxaluria type 2 have significant morbidity and require careful follow-up

Uniparental isodisomy as a cause of recessive Mendelian disease: a diagnostic pitfall with a quick and easy solution in medium/large NGS analyses

Alport syndrome and autosomal dominant tubulointerstitial kidney disease frequently underlie end stage renal disease of unknown origin - a single center analysis

The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping

Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases

Copeptin in autosomal dominant polycystic kidney disease: real-world experiences from a large prospective cohort study

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

Germline C1GALT1C1 mutation causes a multisystem chaperonopathy

Unraveling Structural Rearrangements of the CFH Gene Cluster in Atypical Hemolytic Uremic Syndrome Patients Using Molecular Combing and Long-Fragment Targeted Sequencing

A heritable microduplication encompassing TBL1XR1 causes a genomic sister‐disorder for the 3q26.32 microdeletion syndrome

Long-term data on two sisters with C3GN due to an identical, homozygous CFH mutation and autoantibodies

Features of Postpartum Hemorrhage-Associated Thrombotic Microangiopathy and Role of Short-Term Complement Inhibition

Copeptin in autosomal dominant polycystic kidney disease: real-world experiences from a large prospective cohort study

Still diagnosed too late and under-recognized? A first comprehensive report on primary hyperoxaluria from Poland

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