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Scientific Publications

Science combined with clinical diagnostics enhances common knowledge to the benefit of the medical community. Explore our findings and stay informed about the latest discoveries.

A Rare Genetic Disease in Which Symptoms Naturally Improve

While most genetic disorders progress from mild to severe, a certain form of muscle disease was suggested to represent an exception. However, this was based on observations in only two patients. As a […]

Article
Dec 21, 2020
  • Mutation Database
  • WES
  • WGS
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Genetic Stratification of Patients with Parkinson’s Disease

While Parkinson’s disease (PD) is clinically homogeneous, it can result from a multitude of genetic and non-genetic causes. Stratifying PD patients accordingly is of utmost importance for focused […]

Article
Dec 13, 2020
  • Neurology
  • Mutation Database
  • NGS
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Disturbed Growth Signaling Linked to a Novel Disorder

Most studies that report novel gene-disease associations lack functional insights. A recent exception is a high impact paper on a skeletal dysplasia caused by recessive variants in SCUBE3. In a […]

Article
Dec 06, 2020
  • WGS
  • WES
  • Mutation Database
  • Dysmorphology
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An Extended Intellectual Disability Phenotype

Intellectual disability (ID) is amongst the most frequent symptoms of syndromic genetic disorders. Analyzing a multi-generational family, CENTOGENE identified a homozygous nonsense variant in TRAPPC9 […]

Article
Dec 04, 2020
  • Neurology
  • WES
  • Mutation Database
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Defective mRNA Translation and Neurodegeneration

Based on their size and inability to renew, nerve cells are highly vulnerable to defects in many cellular processes, including the translation of mRNA. A recent study involving several researchers […]

Article
Nov 23, 2020
  • Neurology
  • WES
  • WGS
  • Mutation Database
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Genetic Confirmation to Solidify Expert Clinical Suspicion

Expert physicians are able to clinically recognize even rare congenital conditions. In saying that, CENTOGENE still advises targeted genetic follow-up aimed at confirming the suspicion, as well as […]

Article
Nov 21, 2020
  • Dermatology
  • NGS
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A Case Report with High Scientific Value

The value of a case report can be correlated with the rarity of the disorder it covers. A recent paper, which was triggered by a genetic diagnosis issued at CENTOGENE, is of rather high value in this […]

Article
Nov 19, 2020
  • Neurology
  • WGS
  • Mutation Database
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Joining Forces to Understand Ultra-Rare Disorders

Certain genetic disorders are too rare to be investigated in several patients by single centers. Uniform scientific descriptions thus require global collaborations. A pertinent success story, in […]

Article
Nov 10, 2020
  • Neurology
  • Dysmorphology
  • WES
  • Mutation Database
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One Genetic Variant – 52 Patients

Schuurs-Hoeijmakers syndrome is one of the few inherited disorders that have been associated with only a single genetic variant. A recent study describes 16 pertinent patients, most of whom were […]

Article
Nov 08, 2020
  • Dysmorphology
  • WES
  • Mutation Database
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