Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis
Gall, Kimberly, Izzo, Emanuela, Seppälä, Eija H, Alakurtti, Kirsi, Koskinen, Lotta, Saarinen, Inka, Singh, Akashdeep, Myllykangas, Samuel, Koskenvuo, Juha, Alastalo, Tero-Pekka
Published in PloS one (01.09.2021)
Published in PloS one (01.09.2021)
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Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis
Fietz, Michael, AlSayed, Moeenaldeen, Burke, Derek, Cohen-Pfeffer, Jessica, Cooper, Jonathan D., Dvořáková, Lenka, Giugliani, Roberto, Izzo, Emanuela, Jahnová, Helena, Lukacs, Zoltan, Mole, Sara E., Noher de Halac, Ines, Pearce, David A., Poupetova, Helena, Schulz, Angela, Specchio, Nicola, Xin, Winnie, Miller, Nicole
Published in Molecular genetics and metabolism (01.09.2016)
Published in Molecular genetics and metabolism (01.09.2016)
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Glutamic Acid Decarboxylase and Glutamate Receptor Changes during Tolerance and Dependence to Benzodiazepines
Izzo, Emanuela, Auta, James, Impagnatiello, Francesco, Pesold, Christine, Guidotti, Alessandro, Costa, Erminio
Published in Proceedings of the National Academy of Sciences - PNAS (13.03.2001)
Published in Proceedings of the National Academy of Sciences - PNAS (13.03.2001)
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Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2
Gall, Kimberly, Izzo, Emanuela, Seppälä, Eija H, Alakurtti, Kirsi, Koskinen, Lotta, Saarinen, Inka, Singh, Akashdeep, Myllykangas, Samuel, Koskenvuo, Juha, Alastalo, Tero-Pekka
Published in PloS one (01.09.2021)
Published in PloS one (01.09.2021)
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Clinical utility of a sponsored, no-cost skeletal dysplasia gene panel testing program: results from 850 tests
Seratti, Guillermo, Pang, Tiffany, Pansare, Vikram, Izzo, Emanuela, Mackenzie, William, Raggio, Cathleen, White, Klane, Truty, Rebecca, Johnson, Britt, Aradhya, Swaroop
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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eP316 - Clinical utility of a sponsored, no-cost skeletal dysplasia gene panel testing program: results from 850 tests
Seratti, Guillermo, Pang, Tiffany, Pansare, Vikram, Izzo, Emanuela, Mackenzie, William, Raggio, Cathleen, White, Klane, Truty, Rebecca, Johnson, Britt, Aradhya, Swaroop
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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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
MacCarrick, Gretchen, Aradhya, Swaroop, Bailey, Mitch, Chu, Dorna, Hunt, Abigail, Izzo, Emanuela, Krakow, Deborah, Mackenzie, William, Poll, Sarah, Raggio, Cathleen, Shediac, Renée, White, Klane K., McLaughlin, Heather M., Seratti, Guillermo
Published in American journal of medical genetics. Part A (01.09.2024)
Published in American journal of medical genetics. Part A (01.09.2024)
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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
Singh, Akashdeep, Gall, Kimberly, Izzo, Emanuela, Alakurtti, Kirsi, Seppala, Eija H., Koskinen, Lotta, Koskenvuo, Juha, Alastalo, Tero-Pekka
Published in Molecular genetics and metabolism (01.02.2021)
Published in Molecular genetics and metabolism (01.02.2021)
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Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants
Zanetti, Alessandra, D'Avanzo, Francesca, AlSayed, Moeenaldeen, Brusius‐Facchin, Ana Carolina, Chien, Yin‐Hsiu, Giugliani, Roberto, Izzo, Emanuela, Kasper, David C., Lin, Hsiang‐Yu, Lin, Shuan‐Pei, Pollard, Laura, Singh, Akashdeep, Tonin, Rodolfo, Wood, Tim, Morrone, Amelia, Tomanin, Rosella
Published in Human mutation (01.11.2021)
Published in Human mutation (01.11.2021)
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Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease
Leal‐Pardinas, Fernanda, Truty, Rebecca, McKnight, Dianalee A., Johnson, Britt, Morales, Ana, Bristow, Sara L., Yar Pang, Tiffany, Cohen‐Pfeffer, Jessica, Izzo, Emanuela, Sankar, Raman, Koh, Sookyong, Wirrell, Elaine C., Millichap, John J., Aradhya, Swaroop
Published in Epilepsia (Copenhagen) (01.07.2022)
Published in Epilepsia (Copenhagen) (01.07.2022)
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Clinical utility of a sponsored gene panel testing program for pediatric epilepsy and CLN2 disease diagnosis: results from 10,853 tests
Pang, Tiffany, Truty, Rebecca, McKnight, Dianalee A., Johnson, Britt, Morales, Ana, Bristow, Sara L., Izzo, Emanuela, Seratti, Guillermo, Koh, Sookyong, Wirrell, Elaine C., Millichap, John J., Aradhya, Swaroop
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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eP319 - Clinical utility of a sponsored gene panel testing program for pediatric epilepsy and CLN2 disease diagnosis: results from 10,853 tests
Pang, Tiffany, Truty, Rebecca, McKnight, Dianalee A., Johnson, Britt, Morales, Ana, Bristow, Sara L., Izzo, Emanuela, Seratti, Guillermo, Koh, Sookyong, Wirrell, Elaine C., Millichap, John J., Aradhya, Swaroop
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Journal Article
Clinical utility of a sponsored, no-cost skeletal dysplasia gene panel testing program: Results from 850 tests
Seratti, Guillermo, Pansare, Vikram, Pang, Tiffany Yar, Izzo, Emanuela, Mackenzie, William, Raggio, Cathleen, White, Klane, Truty, Rebecca, Johnson, Britt, Aradhya, Swaroop
Published in Molecular genetics and metabolism (01.02.2021)
Published in Molecular genetics and metabolism (01.02.2021)
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eP409: Clinical utility of a sponsored, no-charge skeletal dysplasia gene panel testing program: Results from >2600 tests
MacCarrick, Gretchen, Mackenzie, William, Raggio, Cathleen, White, Klane, Krakow, Deborah, Izzo, Emanuela, Pansare, Vikram, Hunt, Abigail, Shediac, Renée, Chu, Dorna, Pang, Tiffany Yar, Poll, Sarah, McLaughlin, Heather, Seratti, Guillermo
Published in Genetics in medicine (01.03.2022)
Published in Genetics in medicine (01.03.2022)
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Molecular basis of mucopolysaccharidosis type IVA (Morquio syndrome type A): A review and classification of gene variants and reporting of new variants
Singh, Akashdeep, Zanetti, Alessandra, Morrone, Amelia, Al-Sayed, Moeenaldeen, Brusius-Facchin, Ana Carolina, Chien, Yin-Hsiu, D'Avanzo, Francesca, Giugliani, Roberto, Izzo, Emanuela, Kasper, David C., Lin, Hsiang-Yu, Lin, Shuan-Pei, Pollard, Laura, Tonin, Rodolfo, Wood, Tim, Tomanin, Rosella
Published in Molecular genetics and metabolism (01.02.2021)
Published in Molecular genetics and metabolism (01.02.2021)
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Journal Article
Molecular basis of mucopolysaccharidosis type IVA (Morquio syndrome type A): A review and classification of GALNS gene variants and reporting of new variants
Singh, Akashdeep, Zanetti, Alessandra, Morrone, Amelia, Al-Sayed, Moeenaldeen, Brusius-Facchin, Ana Carolina, Chien, Yin-Hsiu, D'Avanzo, Francesca, Giugliani, Roberto, Izzo, Emanuela, Kasper, David C., Lin, Hsiang-Yu, Lin, Shuan-Pei, Pollard, Laura, Tonin, Rodolfo, Wood, Tim, Tomanin, Rosella
Published in Molecular genetics and metabolism (01.02.2021)
Published in Molecular genetics and metabolism (01.02.2021)
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Clinical utility of a sponsored gene panel testing program for pediatric epilepsy and CLN2 disease diagnosis: Results from 4246 tests
Pang, Tiffany, Leal-Pardinas, Fernanda, Truty, Rebecca, McKnight, Dianalee A., Johnson, Britt, Morales, Ana, Bristow, Sara L., Izzo, Emanuela, Cohen-Pfeffer, Jessica, Sankar, Raman, Koh, Sookyong, Wirrell, Elaine C., Millichap, John J., Aradhya, Swaroop
Published in Molecular genetics and metabolism (01.02.2021)
Published in Molecular genetics and metabolism (01.02.2021)
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Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: A review of published classified variants in the ARSB gene
Bailey, Mitch, Karageorgos, Litsa, Tomanin, Rosella, AlSayed, Moeenaldeen, Izzo, Emanuela, Miller, Nicole, Sakuraba, Hitoshi, Zanetti, Alessandra, Hopwood, John J.
Published in Molecular genetics and metabolism (01.02.2018)
Published in Molecular genetics and metabolism (01.02.2018)
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Use of epilepsy gene panels for early diagnosis of epilepsy in children 2-4 years of age: expert considerations on current and future practices in Europe
Izzo, Emanuela, Barroso, Eva, Bailey, Mitch, Griesbach, Stefan, Lerche, Holger, Jenkins, Lucy, Le Guern, Eric, Mei, Davide, Mikhaylova, Svetlana, Santorelli, Filippo, Miller, Nicole
Published in Molecular genetics and metabolism (01.02.2018)
Published in Molecular genetics and metabolism (01.02.2018)
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Prolonged kynurenine 3-hydroxylase inhibition reduces development of levodopa-induced dyskinesias in parkinsonian monkeys
Grégoire, Laurent, Rassoulpour, Arash, Guidetti, Paolo, Samadi, Pershia, Bédard, Paul J., Izzo, Emanuela, Schwarcz, Robert, Di Paolo, Thérèse
Published in Behavioural brain research (25.01.2008)
Published in Behavioural brain research (25.01.2008)
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