Tony Roscioli
9PUBLICATIONS
117CO-AUTHORS
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Publications (9)
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|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
|Dec 19, 2023
Biallellic variants in CACNA1S cause fetal akinesia sequence, progressive hydrops and stillbirth.Emma Seed, Fallon Noon, Di Milnes
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Frequent Collaborators
2 joint publications
Bekim Sadikovic
2 joint publications
David Genevieve
2 joint publications
Nicola Brunetti-Pierri
2 joint publications
Marielle Alders
2 joint publications
Mark J Cowley
1 joint publications
Nicole J Van Bergen
1 joint publications
Kristen J Verhey
1 joint publications
Breane Budaitis
1 joint publications
Yang Yue
1 joint publications
Carolyn Ellaway
