Area of research
Genetics · Pediatrics, Perinatology and Child Health
Research interest
Research interests include Genetic and Kidney Cyst Diseases, Fetal and Pediatric Neurological Disorders, Hedgehog Signaling Pathway Studies, and Genomics and Rare Diseases.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort
Targeted long-read sequencing identifies missing disease-causing variation
A human cell atlas of fetal gene expression
A human cell atlas of fetal chromatin accessibility
Healthcare recommendations for Joubert syndrome
Redefining the Etiologic Landscape of Cerebellar Malformations
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis
Genetics of Hydrocephalus: Causal and Contributory Factors
Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center
Disruption to control network function correlates with altered dynamic connectivity in the wider autism spectrum
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes
Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes
MKS1 regulates ciliary INPP5E levels in Joubert syndrome
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies
Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans
Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics
Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders
Genotype–phenotype correlation in <i>CC2D2A</i>-related Joubert syndrome reveals an association with ventriculomegaly and seizures
<i>GPSM2</i> mutations in Chudley–McCullough syndrome