Cristina Gervasini

Scopus Author ID ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 18

Top Venues

International journal of molecular sciences

American journal of medical genetics. Part A

Human mutation

European journal of human genetics : EJHG

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

Publications

Elisabetta Gibellato, Paola Cianci, Milena Mariani, Barbara Parma, Sylvia Huisman, Robert Śmigiel, Anne-Marie Bisgaard, Valentina Massa, Cristina Gervasini, Alex Moretti, Alessandro Cattoni, Andrea Biondi, Angelo Selicorni
SMC1A epilepsy syndrome: clinical data from a large international cohort. American journal of medical genetics. Part A 194 (7) (2024)
Elisabetta Gibellato, Paola Cianci, Milena Mariani, Barbara Parma, Sylvia Huisman, Robert Śmigiel, Anne-Marie Bisgaard, Valentina Massa, Cristina Gervasini, Alex Moretti, Alessandro Cattoni, Andrea Biondi, Angelo Selicorni
SMC1A epilepsy syndrome: clinical data from a large international cohort. American journal of medical genetics. Part A 194 (7) (2024)
Elisabetta Gibellato, Paola Cianci, Milena Mariani, Barbara Parma, Sylvia Huisman, Robert Śmigiel, Anne-Marie Bisgaard, Valentina Massa, Cristina Gervasini, Alex Moretti, Alessandro Cattoni, Andrea Biondi, Angelo Selicorni
SMC1A epilepsy syndrome: clinical data from a large international cohort. American journal of medical genetics. Part A (2024)
Elisa Adele Colombo, Michele Valiante, Matteo Uggeri, Alessandro Orro, Silvia Majore, Paola Grammatico, Davide Gentilini, Palma Finelli, Cristina Gervasini, Pasqualina D'Ursi, Lidia Larizza
Germline NUP98 Variants in Two Siblings with a Rothmund-Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling. International journal of molecular sciences 24 (4) (2023)
Elisa Adele Colombo, Michele Valiante, Matteo Uggeri, Alessandro Orro, Silvia Majore, Paola Grammatico, Davide Gentilini, Palma Finelli, Cristina Gervasini, Pasqualina D'Ursi, Lidia Larizza
Germline NUP98 Variants in Two Siblings with a Rothmund-Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling. International journal of molecular sciences 24 (4) (2023)
Elisa Adele Colombo, Michele Valiante, Matteo Uggeri, Alessandro Orro, Silvia Majore, Paola Grammatico, Davide Gentilini, Palma Finelli, Cristina Gervasini, Pasqualina D'Ursi, Lidia Larizza
Germline NUP98 Variants in Two Siblings with a Rothmund-Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling. International journal of molecular sciences 24 (4) (2023)
Elisa Adele Colombo, Michele Valiante, Matteo Uggeri, Alessandro Orro, Silvia Majore, Paola Grammatico, Davide Gentilini, Palma Finelli, Cristina Gervasini, Pasqualina D'Ursi, Lidia Larizza
Germline NUP98 Variants in Two Siblings with a Rothmund-Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling. International journal of molecular sciences 24 (4) (2023)
Elisa Adele Colombo, Michele Valiante, Matteo Uggeri, Alessandro Orro, Silvia Majore, Paola Grammatico, Davide Gentilini, Palma Finelli, Cristina Gervasini, Pasqualina D'Ursi, Lidia Larizza
Germline NUP98 Variants in Two Siblings with a Rothmund-Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling. International journal of molecular sciences 24 (4) (2023)
Michael A Levy, Raissa Relator, Haley McConkey, Erinija Pranckeviciene, Jennifer Kerkhof, Mouna Barat-Houari, Sara Bargiacchi, Elisa Biamino, María Palomares Bralo, Gerarda Cappuccio, Andrea Ciolfi, Angus John Clarke, Barbara R DuPont, Mariet W Elting, Laurence Faivre, Timothy Fee, Marco Ferilli, Robin S Fletcher, Florian Cherick, Aidin Foroutan, Michael J Friez, Cristina Gervasini, Sadegheh Haghshenas, Benjamin A Hilton, Zandra A Jenkins, Simranpreet Kaur, Suzanne Lewis, Raymond J Louie, Silvia Maitz, Donatella Milani, Angela T Morgan, Renske Oegema, Elsebet Østergaard, Nathalie R Pallares, Maria Piccione, Astrid S Plomp, Cathryn Poulton, Jack Reilly, Rocio Rius, Stephen P Robertson, Kathleen Rooney, Justine Rousseau, Gijs W E Santen, Fernando Santos-Simarro, Josephine Schijns, Gabriella M Squeo, Miya St John, Christel Thauvin-Robinet, Giovanna Traficante, Pleuntje J van der Sluijs, Samantha A Vergano, Niels Vos, Kellie K Walden, Dimitar Azmanov, Tugce B Balci, Siddharth Banka, Jozef Gecz, Peter Henneman, Jennifer A Lee, Marcel M A M Mannens, Tony Roscioli, Victoria Siu, David J Amor, Gareth Baynam, Eric G Bend, Kym M Boycott, Nicola Brunetti-Pierri, Philippe M Campeau, Dominique Campion, John Chrisodoulou, David Dyment, Natacha Esber, Jill A Fahrner, Mark Daniel Fleming, David Genevieve, Delphine Heron, Thomas Husson, Kristin D Kernohan, Alisdair McNeill, Leonie A Menke, Giuseppe Merla, Paolo Prontera, Cheryl Rockman-Greenberg, Charles Schwartz, Steven A Skinner, Roger E Stevenson, Marie Vincent, Antonio Vitobello, Tartaglia Marco, Marielle Alders, Matthew L Tedder, Bekim Sadikovic
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders. Human mutation 43 (11) (2022)
Silvia Castiglioni, Elisabetta Di Fede, Clara Bernardelli, Antonella Lettieri, Chiara Parodi, Paolo Grazioli, Elisa Adele Colombo, Silvia Ancona, Donatella Milani, Emerenziana Ottaviano, Elisa Borghi, Valentina Massa, Filippo Ghelma, Aglaia Vignoli, Elena Lesma, Cristina Gervasini
KMT2A : Umbrella Gene for Multiple Diseases. Genes 13 (3) (2022)
Aidin Foroutan, Sadegheh Haghshenas, Pratibha Bhai, Michael A Levy, Jennifer Kerkhof, Haley McConkey, Marcello Niceta, Andrea Ciolfi, Lucia Pedace, Evelina Miele, David Genevieve, Solveig Heide, Mariëlle Alders, Giuseppe Zampino, Giuseppe Merla, Mélanie Fradin, Eric Bieth, Dominique Bonneau, Klaus Dieterich, Patricia Fergelot, Elise Schaefer, Laurence Faivre, Antonio Vitobello, Silvia Maitz, Rita Fischetto, Cristina Gervasini, Maria Piccione, Ingrid M B H van de Laar, Tartaglia Marco, Bekim Sadikovic, Anne-Sophie Lèbre
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A -Related Syndrome. International journal of molecular sciences 23 (3) (2022)
Clara Bernardelli, Silvia Ancona, Melania Lazzari, Antonella Lettieri, Piera Selvaggio, Valentina Massa, Cristina Gervasini, Federico Raimondi, Raffaella Chiaramonte, Elena Lesma
LAM Cells as Potential Drivers of Senescence in Lymphangioleiomyomatosis Microenvironment. International journal of molecular sciences 23 (13) (2022)
Elisabetta Di Fede, Emerenziana Ottaviano, Paolo Grazioli, Camilla Ceccarani, Antonio Galeone, Chiara Parodi, Elisa Adele Colombo, Giulia Bassanini, Grazia Fazio, Marco Severgnini, Donatella Milani, Elvira Verduci, Thomas Vaccari, Valentina Massa, Elisa Borghi, Cristina Gervasini
Insights into the Role of the Microbiota and of Short-Chain Fatty Acids in Rubinstein-Taybi Syndrome. International journal of molecular sciences 22 (7) (2021)
Ilaria Parenti, Mark B Mallozzi, Irina Hüning, Cristina Gervasini, Alma Kuechler, Emanuele Agolini, Beate Albrecht, Carolina Baquero-Montoya, Axel Bohring, Nuria C Bramswig, Andreas Busche, Andreas Dalski, Yiran Guo, Britta Hanker, Yorck Hellenbroich, Denise Horn, A Micheil Innes, Chiara Leoni, Yun R Li, Sally-Ann Lynch, Milena Mariani, Livija Medne, Barbara Mikat, Donatella Milani, Roberta Onesimo, Xilma R Ortiz-González, Eva Christina Prott, Heiko Martin Reutter, Eva Rossier, Angelo Selicorni, Peter Wieacker, Alisha Wilkens, Dagmar Wieczorek, Elaine H Zackai, Giuseppe Zampino, Birgit Zirn, Hakon H Hakonarson, Matthew A Deardorff, Gabriele Gillessen-Kaesbach, Frank J Kaiser
ANKRD11 variants: KBG syndrome and beyond. Clinical genetics 100 (2) (2021)
Silvana Pileggi, Marta La Vecchia, Elisa Adele Colombo, Laura Fontana, Patrizia Colapietro, Davide Rovina, Annamaria Morotti, Silvia Maria Tabano, Giovanni Porta, Myriam Alcalay, Cristina Gervasini, Monica Miozzo, Silvia Maria Sirchia
Cohesin Mutations Induce Chromatin Conformation Perturbation of the H19/IGF2 Imprinted Region and Gene Expression Dysregulation in Cornelia de Lange Syndrome Cell Lines. Biomolecules 11 (11) (2021)
Luciano Calzari, Matteo Barcella, Valentina Alari, Daniele Braga, Rafael Muñoz-Viana, Cristina Barlassina, Palma Finelli, Cristina Gervasini, Ángel Barco, Silvia Russo, Lidia Larizza
Transcriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal Differentiation. Molecular neurobiology 57 (9) (2020)
Elisabetta Di Fede, Valentina Massa, Bartolomeo Augello, Gabriella Squeo, Emanuela Scarano, Anna Maria Perri, Rita Fischetto, Francesco Andrea Causio, Giuseppe Zampino, Maria Piccione, Elena Curridori, Tommaso Mazza, Stefano Castellana, Lidia Larizza, Filippo Ghelma, Elisa Adele Colombo, Maria Chiara Gandini, Marco Castori, Giuseppe Merla, Donatella Milani, Cristina Gervasini
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes. European journal of human genetics : EJHG 29 (1) (2020)
Gloria Negri, Pamela Magini, Donatella Milani, Milena Crippa, Elisa Biamino, Maria Piccione, Stefano Sotgiu, Chiara Perrìa, Giuseppina Vitiello, Marina Frontali, Antonella Boni, Elisabetta Di Fede, Maria Chiara Gandini, Elisa Adele Colombo, Michael J Bamshad, Deborah A Nickerson, Joshua D Smith, Italia Loddo, Palma Finelli, Marco Seri, Tommaso Pippucci, Lidia Larizza, Cristina Gervasini
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders. Human genetics 138 (3) (2019)

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Publication Activity (10 Years)

Top Topics

Top Venues

Cristina Gervasini