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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.

Exemplifying the High Value of CentoMD®

Rare disease research usually focuses on pathogenic genetic variants. The lack of a disease-association for certain types of variants, however, can also be very telling. Pertinent insights into […]

Article
Jan 11, 2021
  • Mutation Database
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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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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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