Scientific profile
The publication record reflects sustained international work in clinical human genetics, translational genomics and diagnostic methodology.
Publications with a clinical-translational focus
The publication record spans first-author, senior-author and collaborative work in rare disease genetics, growth disorders, skeletal dysplasias, NGS diagnostics and clinical variant interpretation.
Scientific visibility as a quality signal
In rare or methodologically demanding cases, the key capability is not only to know the literature, but to integrate primary papers, functional evidence and diagnostic standards into a conclusion that remains robust under scrutiny. The publication record demonstrates active contribution to that field.
Complete publication list directly from the ORCID profile
In addition to the curated selection, the full public publication record from the ORCID profile is available here. Wherever ORCID provides a DOI, journal or PubMed reference, the entries can be opened directly.
Selected publications with broad reach
| Year | Publication | Journal | Citations |
|---|---|---|---|
| 2012 | Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study | The Lancet | 809 |
| 2008 | Mutations in the pericentrin (PCNT) gene cause primordial dwarfism | Science | 322 |
| 2006 | Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation | Am J Med Genet A | 293 |
| 2005 | Deficiency of UBR1 causes pancreatic dysfunction, malformations and intellectual disability | Nature Genetics | 202 |
| 2015 | siRNA-based functional genomics screen for regulators of ciliogenesis and ciliopathy genes | Nature Cell Biology | 194 |
| 2017 | Diagnostic yield and novel candidate genes by exome sequencing in 152 consanguineous families | JAMA Psychiatry | 187 |
| 2011 | NEK1 mutations cause short-rib polydactyly syndrome type Majewski | AJHG | 138 |
| 2005 | Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2 | J Med Genet | 113 |
| 2018 | Systematic phenotyping and exome sequencing in patients with short stature | Genetics in Medicine | 109 |
| 2005 | RMRP mutations as essential cell growth regulators in extreme short stature | AJHG | 107 |
Main subject areas
- genetic causes of short stature and growth disorders
- ciliopathies and skeletal developmental disorders
- clinical and functional variant interpretation
- NGS-based diagnostics and translational implementation
Independent scientific track record
- 11 first-author papers
- 16 senior-author papers
- 58 collaborative papers
- continued visibility across clinical and methodological topics
Selected papers with particular relevance
The following selection marks recurring strengths in growth genetics, skeletal disorders, variant interpretation and translational diagnostics.
ATP6V1C1 / ATP6V1B2 and multisystem disease
HGG Advances. Dominantly acting variants affecting lysosomal and autophagosomal function.
Spondylocostal dysostosis type 3
Clinical Genetics. Refined clinical and molecular delineation of a rare skeletal disorder.
ZNF292-related neurodevelopmental disorder
Genetics in Medicine. Important contribution to the genetics of neurodevelopmental disease with autism-spectrum features.
Evolutionary conserved networks of human height
European Journal of Human Genetics. Mendelian causes of short stature identified through conserved biological networks.
Systematic phenotyping and exome sequencing in short stature
Genetics in Medicine. Highly relevant clinical work on diagnostic evaluation in short stature.
DYNC2LI1 mutations broaden the dynein-2 spectrum
Scientific Reports. Expansion of the clinical spectrum of ciliary disease.
MAP4 dependent growth regulation
Human Mutation. Functional genomics of centrosome, cilia and growth biology.
Rare copy number variants in short stature
PLoS Genetics. Important contribution to the genetic aetiology of short stature.
MYST4 disruption and Noonan-syndrome-like phenotype
Journal of Clinical Investigation. Translational mechanistic work with strong functional relevance.
PCNT mutations cause primordial dwarfism
Science. Landmark publication on the genetics of primordial short stature.
All publications
The list is loaded directly from the public ORCID profile. Where available, titles open the DOI or journal page; additional buttons lead to PubMed.