Area of research
Genetics · Pediatrics, Perinatology and Child Health
Research interest
Research interests include Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, and Prenatal Screening and Diagnostics.
Multiple and novel molecular mechanisms in TUBA1A-related tubulinopathy: insights from deep clinical and neuroradiological phenotyping.
Examining the role of common variants in rare neurodevelopmental conditions
Loss of transient receptor potential channel 5 causes obesity and postpartum depression
The Human Phenotype Ontology in 2024: phenotypes around the world
A human embryonic limb cell atlas resolved in space and time
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships—allelic requirement, inheritance modes, and disease mechanisms
The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources
Recommendations for whole genome sequencing in diagnostics for rare diseases
GA4GH: International policies and standards for data sharing across genomic research and healthcare
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
Structural mapping of GABRB3 variants reveals genotype–phenotype correlations
A framework for an evidence-based gene list relevant to autism spectrum disorder
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome
Trappc9 deficiency causes parent-of-origin dependent microcephaly and obesity
Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders
Contribution of retrotransposition to developmental disorders
Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative
De novo mutations in regulatory elements in neurodevelopmental disorders
Quantifying the contribution of recessive coding variation to developmental disorders
Registered access: authorizing data access
Clinical and molecular consequences of disease-associated de novo mutations in SATB2
The Human Phenotype Ontology in 2017
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas
Heterozygous<i>KIDINS220/ARMS</i>nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity
The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery
Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant
Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate