Tony Roscioli
Overview
Explore the profile of Tony Roscioli including associated specialties, affiliations and a list of published articles.
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Articles
138
Citations
3119
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Recent Articles
1.
Verbinnen I, Douzgou Houge S, Hsieh T, Lesmann H, Kirchhoff A, Genevieve D, et al.
Am J Hum Genet
. 2025 Feb;
112(3):554-571.
PMID: 39978342
Pathogenic variants resulting in protein phosphatase 2A (PP2A) dysfunction result in mild to severe neurodevelopmental delay. PP2A is a trimer of a catalytic (C) subunit, scaffolding (A) subunit, and substrate...
2.
Tise C, Ashton K, de Hayr L, Lee K, Patkar O, Krzesinski E, et al.
Genet Med Open
. 2025 Feb;
3:101958.
PMID: 39925707
Purpose: Sulfate is vital for many physiological processes, including the structural and functional maintenance of macromolecules and formation of sulfur-containing compounds essential for cartilage and bone development. SLC13A1 is a...
3.
de Hayr L, Blok L, Dias K, Long J, Begemann A, Moir R, et al.
Genet Med
. 2024 Dec;
27(1):101253.
PMID: 39636576
Purpose: This study details a novel syndromic form of autosomal recessive intellectual disability resulting from recessive variants in GTF3C3, encoding a key component of the DNA-binding transcription factor IIIC, which...
4.
Kirk E, Delatycki M, Archibald A, Tutty E, Caruana J, Halliday J, et al.
N Engl J Med
. 2024 Nov;
391(20):1877-1889.
PMID: 39565987
Background: Genomic sequencing technology allows for identification of reproductive couples with an increased chance, as compared with that in the general population, of having a child with an autosomal recessive...
5.
Ball M, Bouffler S, Barnett C, Freckmann M, Hunter M, Kamien B, et al.
Genet Med
. 2024 Oct;
27(1):101293.
PMID: 39417332
Purpose: To characterize the diagnostic and clinical outcomes of a cohort of critically ill infants and children with suspected mitochondrial disorders (MD) undergoing ultrarapid genomic testing as part of a...
6.
LaFlamme C, Rastin C, Sengupta S, Pennington H, Russ-Hall S, Schneider A, et al.
Nat Commun
. 2024 Aug;
15(1):6524.
PMID: 39107278
Sequence-based genetic testing identifies causative variants in ~ 50% of individuals with developmental and epileptic encephalopathies (DEEs). Aberrant changes in DNA methylation are implicated in various neurodevelopmental disorders but remain...
7.
Chen Y, Dawes R, Kim H, Ljungdahl A, Stenton S, Walker S, et al.
Nature
. 2024 Jul;
632(8026):832-840.
PMID: 38991538
Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes. Large genome-sequenced cohorts are improving our ability to discover new diagnoses in...
8.
Chen Y, Dawes R, Kim H, Stenton S, Walker S, Ljungdahl A, et al.
medRxiv
. 2024 Apr;
PMID: 38645094
Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes. Increasingly, large genome-sequenced cohorts are improving our ability to discover new diagnoses...
9.
Musolf A, Justice C, Erdogan-Yildirim Z, Goovaerts S, Cuellar A, Shaffer J, et al.
Sci Rep
. 2024 Apr;
14(1):8533.
PMID: 38609424
Craniosynostosis (CS) is a major birth defect resulting from premature fusion of cranial sutures. Nonsyndromic CS occurs more frequently than syndromic CS, with sagittal nonsyndromic craniosynostosis (sNCS) presenting as the...
10.
Houdayer C, Phillips A, Chabbert M, Bourreau J, Maroofian R, Houlden H, et al.
medRxiv
. 2024 Apr;
PMID: 38562733
Hyperpolarization activated Cyclic Nucleotide (HCN) gated channels are crucial for various neurophysiological functions, including learning and sensory functions, and their dysfunction are responsible for brain disorders, such as epilepsy. To...