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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 Strengths of Genome Sequencing

Certain genetic variants are easily missed by Exome Sequencing (ES), but readily detected by Genome Sequencing (GS). Utilizing the superiority of the latter technology, CENTOGENE identified such a […]

Article
Feb 01, 2021
  • Neurology
  • Dysmorphology
  • WGS
  • Mutation Database
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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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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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A Novel Genetic Syndrome

Standard genome-scale diagnostics fail to identify a pathogenic variant in up to 50% of patients. CENTOGENE’s free-of-charge ‘research analysis’ of such cases frequently provides strong evidence for […]

Article
Dec 16, 2019
  • Neurology
  • Dysmorphology
  • WGS
  • Mutation Database
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Disease relevance of alternative splicing

Alternative splicing of genes usually generates several isoforms. These may code for slightly differing proteins, the disease relevance of which is often not clear. Researchers from CENTOGENE, by […]

Article
Nov 25, 2019
  • Dysmorphology
  • WES
  • WGS
  • Mutation Database
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Fetal exome sequencing in a real world setting

Fetal exome sequencing (fES) has been available for some time, but systematic analyses of the outcome are scarce. Based on a series of cases evaluated at CENTOGENE, diagnostic yield of fES was found […]

Article
Oct 21, 2019
  • Dysmorphology
  • WES
  • Mutation Database
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Dyskeratosis Congenita with a Novel Variant in the DKC1 Gene

Dyskeratosis congenita (DC) is a rare genetic disorder of bone marrow failure inherited in an X-linked, autosomal dominant or autosomal recessive pattern. It has a wide array of clinical features and […]

Article
May 24, 2018
  • Dysmorphology
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A Homozygous Nonsense Variant in IFT52 Is Associated with a Human Skeletal Ciliopathy

Intraflagellar transport (IFT) is vital for the functioning of primary cilia. We examined a child from a consanguineous family who had short stature, narrow thorax, short hands and feet, postaxial […]

Article
Feb 11, 2016
  • Dysmorphology
  • WES
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