Tony Roscioli

10PUBLICATIONS
140CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)NeurogeneticsGene and molecular therapyNeonatology
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Publications (10)

|Sep 24, 2026
The Australian PreGen Study: Results From Prospective Prenatal Exome Sequencing in 275 Pregnancies.

|Feb 28, 2026
Experiences of Dutch parents undergoing prenatal genomic testing for fetal structural anomalies: A prospective qualitative analysis.

Maayke A de Koning, Sarah Long, Holly E Evans

|Jan 23, 2026
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.

Kevin Uguen, Tiffany Bergot, Marie-Pier Scott-Boyer

|Oct 01, 2025
DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective.

Liselot van der Laan, Karim Karimi, Kathleen Rooney

|Jul 06, 2025
The Prenatal Neuro-Radiological Phenotype Associated With a Recurrent Pathogenic Variant in PPP2R1A.

Calder Hamill, Stacy Goergen, Michael Fahey

|Aug 06, 2024
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement.

Christy W LaFlamme, Cassandra Rastin, Soham Sengupta

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Frequent Collaborators

2 joint publications

Marielle Alders

2 joint publications

Bekim Sadikovic

2 joint publications

Edwin P Kirk

2 joint publications

Nicola Brunetti-Pierri