0000-0001-9111-5433 Employment
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Publications (128)
- Avoiding Premature Diagnostic Closure: Lessons from Two Children with Neurotransmitter Disorders Associated with Dual Pathology. Save
- Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype. Save
- PSMC5 insufficiency and P320R mutation impair proteasome function. Save
- The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients. Save
- Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases. Save
- Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections. Save
- Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return. Save
- Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein. Save
- Genetics and orofacial clefts: a clinical perspective. Save
- Neurodevelopmental dimensional assessment of young children at high genomic risk of neuropsychiatric conditions. Save