P219: Updating the spectrum of TPP1 mutations suspected of causing CLN2 (Batten disease) to enable earlier genetic testing and inform prevalence
Sara Pulit, Emanuela Izzo, Sherif Khattab, Robert Power et autres
0 citationsGenetics in Medicine Open
Emanuela Izzo
Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.
37Publications signalées
709Citations signalées
1Affiliations récentes
Institutions déclarées
Domaines associés
Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and MyoclonusNeuroscience and Neuropharmacology ResearchGenomics and Rare DiseasesNeurotransmitter Receptor Influence on Behavior
Publications récentes
P245: Updating the spectrum of GALNS mutations suspected of causing Morquio A (MPS IVA) to estimate genetic prevalence and improve diagnosis
Sara Pulit, Emanuela Izzo, Sherif Khattab, Robert Power et autres
0 citationsGenetics in Medicine Open
P319: Updating the spectrum of ARSB mutations suspected of causing Maroteaux-Lamy (MPS VI) to enable genetic prevalence estimation and improve diagnosis
Sara Pulit, Emanuela Izzo, Sherif Khattab, Robert Power et autres
0 citationsGenetics in Medicine Open
P1.01A.01 The INHERIT Study - Investigating Hereditary Risk in Thoracic Cancers (NCT05587439)
Jaclyn LoPiccolo, Vernell Williamson, Diane R. Koeller, Danielle Haradon et autres
0 citationsJournal of Thoracic Oncology
Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date
Gretchen MacCarrick, Swaroop Aradhya, Mitch Bailey, Dorna Chu et autres
4 citationsAmerican Journal of Medical Genetics Part A
Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease
Fernanda Leal‐Pardinas, Rebecca Truty, Dianalee McKnight, Britt Johnson et autres
15 citationsEpilepsia
eP409: Clinical utility of a sponsored, no-charge skeletal dysplasia gene panel testing program: Results from >2600 tests
Gretchen MacCarrick, William G. Mackenzie, Cathleen Raggio, Klane K. White et autres
0 citationsGenetics in Medicine
Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis
Kimberly Gall, Emanuela Izzo, Eija H. Seppälä, Kirsi Alakurtti et autres
10 citationsPLoS ONE
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants
Alessandra Zanetti, Francesca D’Avanzo, Moeenaldeen AlSayed, Ana Carolina Brusius‐Facchin et autres
39 citationsHuman Mutation
Clinical utility of a sponsored, no-cost skeletal dysplasia gene panel testing program: results from 850 tests
Guillermo Seratti, Tiffany Pang, Vikram J. Pansare, Emanuela Izzo et autres
0 citationsMolecular Genetics and Metabolism
Clinical utility of a sponsored gene panel testing program for pediatric epilepsy and CLN2 disease diagnosis: results from 10,853 tests
Tiffany Pang, Rebecca Truty, Dianalee McKnight, Britt Johnson et autres
0 citationsMolecular Genetics and Metabolism
Diagnostic yield and clinical utility of genetic testing in children with seizure onset after two years of age: Update over 2 1/2-year program in Europe and the Middle East
Akashdeep Singh, Kimberly Gall, Emanuela Izzo, Kirsi Alakurtti et autres
1 citationMolecular Genetics and Metabolism
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