• A case in the spectrum of the oculo-encephalo-hepato-renal syndrome
• A lethal syndrome resembling branchio-oculo-facial syndrome
• Axial mesodermal dysplasia sequence: autopsy findings
• Bilateral microphthalmia with cyst, facial clefts, and limb anomalies: a new syndrome with features of Waardenburg syndrome, cerebro-oculo-nasal syndrome, and craniotelencephalic dysplasia
• Cerebello-oculo-renal syndromes including Arima, Senior-Loken and COACH syndromes: more than just variants of Joubert syndrome
• Cerebro-oculofacial dysplasia associated with vertebral changes
• Cervico-oculo-Acoustic syndrome in a male with consanguineous parents
• Clinical and genetic analysis of an infant with Lowe syndrome caused by exonic duplication of OCRL gene
• Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome
• Deep neurological phenotyping in oculo-dento-digital syndrome
• Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3
• MICRO syndrome: an entity distinct from COFS syndrome
• Oculo-auriculo-vertebral spectrum with craniosynostosis and osteo-cartilagineous multiple defects: a diffuse chondro-membranous-osteo-dysplasia
• Oculo-auriculo-vertebral spectrum: going beyond the first and second pharyngeal arch involvement
• Selected clinical research involving the central nervous system
• Xq26.3 microdeletion in a male with Wildervanck Syndrome