Fabio Sirchia

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 17

Top Topics

Gene Expression

Top Venues

medRxiv : the preprint server for health sciences

Neurology. Clinical practice

Italian journal of pediatrics

This page only lists publications with an associated author ORCID identifier.

Publications

Valentina Trevisan, Anna Meroni, Chiara Leoni, Fabio Sirchia, Davide Politano, Giacomo Fiandrino, Valentina Giorgio, Donato Rigante, Domenico Limongelli, Lucrezia Perri, Elisabetta Sforza, Francesca Leonardi, Germana Viscogliosi, Ilaria Contaldo, Daniela Orteschi, Luca Proietti, Giuseppe Zampino, Roberta Onesimo
Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature. Genes 15 (3) (2024)
Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco, Fabio Sirchia, Lydia Turban, Susanna Schubert, Rami Abou Jamra, Jan-Ulrich Schlump, Desiree DeMille, Pinar Bayrak-Toydemir, Gary Rex Nelson, Kristen Nicole Wong, Laura Duncan, Mackenzie Mosera, Christian Gilissen, Lisenka E L M Vissers, Rolph Pfundt, Rogier Kersseboom, Hilde Yttervik, Geir Åsmund Myge Hansen, Marie Falkenberg Smeland, Kameryn M Butler, Michael J Lyons, Claudia M B Carvalho, Chaofan Zhang, James R. Lupski, Lorraine Potocki, Leticia Flores-Gallegos, Rodrigo Morales-Toquero, Florence Petit, Binnaz Yalcin, Annabelle Tuttle, Houda Zghal Elloumi, Lane Mccormick, Mary K Kukolich, Oliver Klaas, Judit Horvath, Marcello Scala, Michele Iacomino, Francesca Felicia Operto, Federico Zara, Karin Writzl, Ales Maver, Maria K Haanpää, Pia Pohjola, Harri Arikka, Christian Iseli, Nicolas Guex, Alexandre Reymond
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. medRxiv : the preprint server for health sciences (2024)
Valentina Trevisan, Anna Meroni, Chiara Leoni, Fabio Sirchia, Davide Politano, Giacomo Fiandrino, Valentina Giorgio, Donato Rigante, Domenico Limongelli, Lucrezia Perri, Elisabetta Sforza, Francesca Leonardi, Germana Viscogliosi, Ilaria Contaldo, Daniela Orteschi, Luca Proietti, Giuseppe Zampino, Roberta Onesimo
Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature. Genes 15 (3) (2024)
Valentina Trevisan, Anna Meroni, Chiara Leoni, Fabio Sirchia, Davide Politano, Giacomo Fiandrino, Valentina Giorgio, Donato Rigante, Domenico Limongelli, Lucrezia Perri, Elisabetta Sforza, Francesca Leonardi, Germana Viscogliosi, Ilaria Contaldo, Daniela Orteschi, Luca Proietti, Giuseppe Zampino, Roberta Onesimo
Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature. Genes 15 (3) (2024)
Martina Giorgia Perinelli, Cecilia Naboni, Ganna Balagura, Elisabetta Amadori, Maria Stella Vari, Valeria Capra, Camelia Lentoiou, Thomas Foiadelli, Fabio Sirchia, Antonella Luparia, Gianluigi Marseglia, Luca A Ramenghi, Pasquale Striano
Early Developmental Intervention and Enriched Environment in CDKL5 Developmental and Epileptic Encephalopathy: A Case Report. Neurology. Clinical practice 14 (3) (2024)
Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco, Fabio Sirchia, Lydia Turban, Susanna Schubert, Rami Abou Jamra, Jan-Ulrich Schlump, Desiree DeMille, Pinar Bayrak-Toydemir, Gary Rex Nelson, Kristen Nicole Wong, Laura Duncan, Mackenzie Mosera, Christian Gilissen, Lisenka E L M Vissers, Rolph Pfundt, Rogier Kersseboom, Hilde Yttervik, Geir Åsmund Myge Hansen, Marie Falkenberg Smeland, Kameryn M Butler, Michael J Lyons, Claudia M B Carvalho, Chaofan Zhang, James R. Lupski, Lorraine Potocki, Leticia Flores-Gallegos, Rodrigo Morales-Toquero, Florence Petit, Binnaz Yalcin, Annabelle Tuttle, Houda Zghal Elloumi, Lane Mccormick, Mary K Kukolich, Oliver Klaas, Judit Horvath, Marcello Scala, Michele Iacomino, Francesca Felicia Operto, Federico Zara, Karin Writzl, Ales Maver, Maria K Haanpää, Pia Pohjola, Harri Arikka, Christian Iseli, Nicolas Guex, Alexandre Reymond
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. medRxiv : the preprint server for health sciences (2024)
Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco, Fabio Sirchia, Lydia Turban, Susanna Schubert, Rami Abou Jamra, Jan-Ulrich Schlump, Desiree DeMille, Pinar Bayrak-Toydemir, Gary Rex Nelson, Kristen Nicole Wong, Laura Duncan, Mackenzie Mosera, Christian Gilissen, Lisenka E L M Vissers, Rolph Pfundt, Rogier Kersseboom, Hilde Yttervik, Geir Åsmund Myge Hansen, Marie Falkenberg Smeland, Kameryn M Butler, Michael J Lyons, Claudia M B Carvalho, Chaofan Zhang, James R. Lupski, Lorraine Potocki, Leticia Flores-Gallegos, Rodrigo Morales-Toquero, Florence Petit, Binnaz Yalcin, Annabelle Tuttle, Houda Zghal Elloumi, Lane Mccormick, Mary K Kukolich, Oliver Klaas, Judit Horvath, Marcello Scala, Michele Iacomino, Francesca Felicia Operto, Federico Zara, Karin Writzl, Ales Maver, Maria K Haanpää, Pia Pohjola, Harri Arikka, Christian Iseli, Nicolas Guex, Alexandre Reymond
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. medRxiv : the preprint server for health sciences (2024)
Valentina Trevisan, Anna Meroni, Chiara Leoni, Fabio Sirchia, Davide Politano, Giacomo Fiandrino, Valentina Giorgio, Donato Rigante, Domenico Limongelli, Lucrezia Perri, Elisabetta Sforza, Francesca Leonardi, Germana Viscogliosi, Ilaria Contaldo, Daniela Orteschi, Luca Proietti, Giuseppe Zampino, Roberta Onesimo
Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature. Genes 15 (3) (2024)
Valentina Trevisan, Anna Meroni, Chiara Leoni, Fabio Sirchia, Davide Politano, Giacomo Fiandrino, Valentina Giorgio, Donato Rigante, Domenico Limongelli, Lucrezia Perri, Elisabetta Sforza, Francesca Leonardi, Germana Viscogliosi, Ilaria Contaldo, Daniela Orteschi, Luca Proietti, Giuseppe Zampino, Roberta Onesimo
Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature. Genes 15 (3) (2024)
Valentina Trevisan, Anna Meroni, Chiara Leoni, Fabio Sirchia, Davide Politano, Giacomo Fiandrino, Valentina Giorgio, Donato Rigante, Domenico Limongelli, Lucrezia Perri, Elisabetta Sforza, Francesca Leonardi, Germana Viscogliosi, Ilaria Contaldo, Daniela Orteschi, Luca Proietti, Giuseppe Zampino, Roberta Onesimo
Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature. Genes 15 (3) (2024)
Valentina Trevisan, Anna Meroni, Chiara Leoni, Fabio Sirchia, Davide Politano, Giacomo Fiandrino, Valentina Giorgio, Donato Rigante, Domenico Limongelli, Lucrezia Perri, Elisabetta Sforza, Francesca Leonardi, Germana Viscogliosi, Ilaria Contaldo, Daniela Orteschi, Luca Proietti, Giuseppe Zampino, Roberta Onesimo
Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature. Genes 15 (3) (2024)
Martina Giorgia Perinelli, Cecilia Naboni, Ganna Balagura, Elisabetta Amadori, Maria Stella Vari, Valeria Capra, Camelia Lentoiou, Thomas Foiadelli, Fabio Sirchia, Antonella Luparia, Gianluigi Marseglia, Luca A Ramenghi, Pasquale Striano
Early Developmental Intervention and Enriched Environment in CDKL5 Developmental and Epileptic Encephalopathy: A Case Report. Neurology. Clinical practice 14 (3) (2024)
Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco, Fabio Sirchia, Lydia Turban, Susanna Schubert, Rami Abou Jamra, Jan-Ulrich Schlump, Desiree DeMille, Pinar Bayrak-Toydemir, Gary Rex Nelson, Kristen Nicole Wong, Laura Duncan, Mackenzie Mosera, Christian Gilissen, Lisenka E L M Vissers, Rolph Pfundt, Rogier Kersseboom, Hilde Yttervik, Geir Åsmund Myge Hansen, Marie Falkenberg Smeland, Kameryn M Butler, Michael J Lyons, Claudia M B Carvalho, Chaofan Zhang, James R. Lupski, Lorraine Potocki, Leticia Flores-Gallegos, Rodrigo Morales-Toquero, Florence Petit, Binnaz Yalcin, Annabelle Tuttle, Houda Zghal Elloumi, Lane Mccormick, Mary K Kukolich, Oliver Klaas, Judit Horvath, Marcello Scala, Michele Iacomino, Francesca Felicia Operto, Federico Zara, Karin Writzl, Ales Maver, Maria K Haanpää, Pia Pohjola, Harri Arikka, Christian Iseli, Nicolas Guex, Alexandre Reymond
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. medRxiv : the preprint server for health sciences (2024)
Valentina Trevisan, Anna Meroni, Chiara Leoni, Fabio Sirchia, Davide Politano, Giacomo Fiandrino, Valentina Giorgio, Donato Rigante, Domenico Limongelli, Lucrezia Perri, Elisabetta Sforza, Francesca Leonardi, Germana Viscogliosi, Ilaria Contaldo, Daniela Orteschi, Luca Proietti, Giuseppe Zampino, Roberta Onesimo
Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature. Genes 15 (3) (2024)
Andrea Querzani, Fabio Sirchia, Gianluca Rustioni, Alessandra Rossi, Alessandro Orsini, Gian Luigi Marseglia, Salvatore Savasta, Luisa Chiapparini, Thomas Foiadelli
KIRREL3-related disorders: a case report confirming the radiological features and expanding the clinical spectrum to a less severe phenotype. Italian journal of pediatrics 49 (1) (2023)
Fabio Sirchia, Ilaria Fantasia, Agnese Feresin, Elisa Giorgio, Flavio Faletra, Denise Mordeglia, Moira Barbieri, Valentina Guida, Alessandro De Luca, Tamara Stampalija
Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis. BMC medical genomics 14 (1) (2021)
Veronica Grigoletto, Alessandro Agostino Occhipinti, Maria Chiara Pellegrin, Fabio Sirchia, Egidio Barbi, Gianluca Tornese
Definition and prevalence of familial short stature. Italian journal of pediatrics 47 (1) (2021)