Marcella Zollino

ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 27

Top Venues

Genes

American journal of medical genetics. Part A

European journal of human genetics : EJHG

Journal of clinical medicine

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

Publications

Stefano Giuseppe Caraffi, Liselot van der Laan, Kathleen Rooney, Slavica Trajkova, Roberta Zuntini, Raissa Relator, Sadegheh Haghshenas, Michael A Levy, Chiara Baldo, Giorgia Mandrile, Carolyn Lauzon, Duccio Maria Cordelli, Ivan Ivanovski, Anna Fetta, Elena Sukarova-Angelovska, Alfredo Brusco, Lisa Pavinato, Verdiana Pullano, Marcella Zollino, Haley McConkey, Tartaglia Marco, Giovanni Battista Ferrero, Bekim Sadikovic, Livia Garavelli
Identification of the DNA methylation signature of Mowat-Wilson syndrome. European journal of human genetics : EJHG 32 (6) (2024)
Stefano Giuseppe Caraffi, Liselot van der Laan, Kathleen Rooney, Slavica Trajkova, Roberta Zuntini, Raissa Relator, Sadegheh Haghshenas, Michael A Levy, Chiara Baldo, Giorgia Mandrile, Carolyn Lauzon, Duccio Maria Cordelli, Ivan Ivanovski, Anna Fetta, Elena Sukarova-Angelovska, Alfredo Brusco, Lisa Pavinato, Verdiana Pullano, Marcella Zollino, Haley McConkey, Tartaglia Marco, Giovanni Battista Ferrero, Bekim Sadikovic, Livia Garavelli
Identification of the DNA methylation signature of Mowat-Wilson syndrome. European journal of human genetics : EJHG 32 (6) (2024)
Stefano Giuseppe Caraffi, Liselot van der Laan, Kathleen Rooney, Slavica Trajkova, Roberta Zuntini, Raissa Relator, Sadegheh Haghshenas, Michael A Levy, Chiara Baldo, Giorgia Mandrile, Carolyn Lauzon, Duccio Maria Cordelli, Ivan Ivanovski, Anna Fetta, Elena Sukarova-Angelovska, Alfredo Brusco, Lisa Pavinato, Verdiana Pullano, Marcella Zollino, Haley McConkey, Tartaglia Marco, Giovanni Battista Ferrero, Bekim Sadikovic, Livia Garavelli
Identification of the DNA methylation signature of Mowat-Wilson syndrome. European journal of human genetics : EJHG 32 (6) (2024)
Stefano Giuseppe Caraffi, Liselot van der Laan, Kathleen Rooney, Slavica Trajkova, Roberta Zuntini, Raissa Relator, Sadegheh Haghshenas, Michael A Levy, Chiara Baldo, Giorgia Mandrile, Carolyn Lauzon, Duccio Maria Cordelli, Ivan Ivanovski, Anna Fetta, Elena Sukarova-Angelovska, Alfredo Brusco, Lisa Pavinato, Verdiana Pullano, Marcella Zollino, Haley McConkey, Tartaglia Marco, Giovanni Battista Ferrero, Bekim Sadikovic, Livia Garavelli
Identification of the DNA methylation signature of Mowat-Wilson syndrome. European journal of human genetics : EJHG (2024)
Domizia Pasquetti, Giuseppe Marangi, Daniela Orteschi, Marina Carapelle, Federica Francesca L'Erario, Romina Venditti, Sabrina Maietta, Domenica Immacolata Battaglia, Ilaria Contaldo, Chiara Veredice, Marcella Zollino
Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8 . Genes 14 (2) (2023)
Simona Amenta, Giuseppe Marangi, Daniela Orteschi, Silvia Frangella, Fiorella Gurrieri, Elisa Paccagnella, null null, Marcello Scala, Ferruccio Romano, Valeria Capra, Vincenzo Nigro, Marcella Zollino
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories. European journal of human genetics : EJHG (2023)
Domizia Pasquetti, Giuseppe Marangi, Daniela Orteschi, Marina Carapelle, Federica Francesca L'Erario, Romina Venditti, Sabrina Maietta, Domenica Immacolata Battaglia, Ilaria Contaldo, Chiara Veredice, Marcella Zollino
Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8 . Genes 14 (2) (2023)
Domizia Pasquetti, Giuseppe Marangi, Daniela Orteschi, Marina Carapelle, Federica Francesca L'Erario, Romina Venditti, Sabrina Maietta, Domenica Immacolata Battaglia, Ilaria Contaldo, Chiara Veredice, Marcella Zollino
Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8 . Genes 14 (2) (2023)
Silvia D'Ippolito, Giuliana Longo, Daniela Orteschi, Andrea Busnelli, Nicoletta Di Simone, Eleonora Pulcinelli, Giorgia Schettini, Giovanni Scambia, Marcella Zollino
Investigating the "Fetal Side" in Recurrent Pregnancy Loss: Reliability of Cell-Free DNA Testing in Detecting Chromosomal Abnormalities of Miscarriage Tissue. Journal of clinical medicine 12 (12) (2023)
Antonio Canosa, Andrea Calvo, Gabriele Mora, Cristina Moglia, Maura Brunetti, Marco Barberis, Giuseppe Borghero, Claudia Caponnetto, Francesca Trojsi, Rossella Spataro, Paolo Volanti, Isabella Laura Simone, Fabrizio Salvi, Francesco Ottavio Logullo, Nilo Riva, Lucio Tremolizzo, Fabio Giannini, Jessica Mandrioli, Raffaella Tanel, Maria Rita Murru, Paola Mandich, Francesca Luisa Conforti, Marcella Zollino, Mario Sabatelli, Claudia Tarlarini, Christian Lunetta, Letizia Mazzini, Sandra D'Alfonso, Nathalie Guy, Vincent Meininger, Pierre Clavelou, William Camu, Adriano Chio, null On Behalf Of Italsgen Consortium
The HFE p.H63D (p.His63Asp) Polymorphism Is a Modifier of ALS Outcome in Italian and French Patients with SOD1 Mutations. Biomedicines 11 (3) (2023)
Domizia Pasquetti, Giuseppe Marangi, Daniela Orteschi, Marina Carapelle, Federica Francesca L'Erario, Romina Venditti, Sabrina Maietta, Domenica Immacolata Battaglia, Ilaria Contaldo, Chiara Veredice, Marcella Zollino
Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8 . Genes 14 (2) (2023)
Antonio Canosa, Andrea Calvo, Gabriele Mora, Cristina Moglia, Maura Brunetti, Marco Barberis, Giuseppe Borghero, Claudia Caponnetto, Francesca Trojsi, Rossella Spataro, Paolo Volanti, Isabella Laura Simone, Fabrizio Salvi, Francesco Ottavio Logullo, Nilo Riva, Lucio Tremolizzo, Fabio Giannini, Jessica Mandrioli, Raffaella Tanel, Maria Rita Murru, Paola Mandich, Francesca Luisa Conforti, Marcella Zollino, Mario Sabatelli, Claudia Tarlarini, Christian Lunetta, Letizia Mazzini, Sandra D'Alfonso, Nathalie Guy, Vincent Meininger, Pierre Clavelou, William Camu, Adriano Chio, null On Behalf Of Italsgen Consortium
The HFE p.H63D (p.His63Asp) Polymorphism Is a Modifier of ALS Outcome in Italian and French Patients with SOD1 Mutations. Biomedicines 11 (3) (2023)
Domizia Pasquetti, Federica Francesca L'Erario, Giuseppe Marangi, Arianna Panfili, Pietro Chiurazzi, Elena Sonnini, Daniela Orteschi, Paolo Alfieri, null null, Manuela Morleo, Vincenzo Nigro, Marcella Zollino
Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype. Clinical genetics (2023)
Silvia D'Ippolito, Giuliana Longo, Daniela Orteschi, Andrea Busnelli, Nicoletta Di Simone, Eleonora Pulcinelli, Giorgia Schettini, Giovanni Scambia, Marcella Zollino
Investigating the "Fetal Side" in Recurrent Pregnancy Loss: Reliability of Cell-Free DNA Testing in Detecting Chromosomal Abnormalities of Miscarriage Tissue. Journal of clinical medicine 12 (12) (2023)
Roberta Onesimo, Angelica Bibiana Delogu, Rita Blandino, Chiara Leoni, Jessica Rosati, Marcella Zollino, Giuseppe Zampino
Smith Magenis syndrome: First case of congenital heart defect in a patient with Rai1 mutation. American journal of medical genetics. Part A 188 (7) (2022)
Paolo Alfieri, Marina Macchiaiolo, Martina Collotta, Federica Alice Maria Montanaro, Cristina Caciolo, Francesca Cumbo, Paolo Galassi, Filippo Maria Panfili, Fabiana Cortellessa, Marcella Zollino, Maria Accadia, Marco Seri, Tartaglia Marco, Andrea Bartuli, Corrado Mammì, Stefano Vicari, Manuela Priolo
Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome. Journal of clinical medicine 11 (14) (2022)
Roberta Onesimo, Paolo Versacci, Angelica Bibiana Delogu, Gabriella De Rosa, Flaminia Pugnaloni, Rita Blandino, Chiara Leoni, Giulio Calcagni, Maria C Digilio, Marcella Zollino, Bruno Marino, Giuseppe Zampino
Smith-Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literature. American journal of medical genetics. Part A 185 (7) (2021)
Elisabetta Tabolacci, Maria Grazia Pomponi, Laura Remondini, Roberta Pietrobono, Daniela Orteschi, Veronica Nobile, Cecilia Pucci, Elisa Musto, Marika Pane, Eugenio M Mercuri, Giovanni Neri, Maurizio Genuardi, Pietro Chiurazzi, Marcella Zollino
Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis. Genes 12 (12) (2021)
Hala Nasser, Liza Vera, Monique Elmaleh-Bergès, Katharina Steindl, Pascaline Letard, Natacha Teissier, Anais Ernault, Fabien Guimiot, Alexandra Afenjar, Marie Laure Moutard, Delphine Héron, Yves Alembik, Martha Momtchilova, Paolo Milani, Nathalie Kubis, Nathalie Pouvreau, Marcella Zollino, Sophie Guilmin Crepon, Florentia Kaguelidou, Pierre Gressens, Alain Verloes, Anita Rauch, Vincent El Ghouzzi, Severine Drunat, Sandrine Passemard
CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects. Journal of medical genetics 57 (6) (2020)
Marina Macchiaiolo, Filippo Maria Panfili, Michaela Veronika Gonfiantini, Gerarda Mastrogiorgio, Paola Sabrina Buonuomo, Stefania Gaspari, Daniela Longo, Marcella Zollino, Andrea Bartuli
Langerhans cell histiocytosis in a young patient with Pitt-Hopkins syndrome. American journal of medical genetics. Part A 182 (11) (2020)
Anna Morgan, Stefania Lenarduzzi, Beatrice Spedicati, Elisabetta Cattaruzzi, Flora Maria Murru, Giulia Pelliccione, Daniela Mazzà, Marcella Zollino, Claudio Graziano, Umberto Ambrosetti, Marco Seri, Flavio Faletra, Giorgia Girotto
Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian Population. Genes 11 (11) (2020)
Simona Amenta, Silvia Frangella, Giuseppe Marangi, Serena Lattante, Stefania Ricciardi, Paolo Niccolò Doronzio, Daniela Orteschi, Chiara Veredice, Ilaria Contaldo, Giuseppe Zampino, Mattia Gentile, Emanuela Scarano, Claudio Graziano, Marcella Zollino
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome. Journal of medical genetics (2020)
Stefania Bigoni, Giuseppe Marangi, Silvia Frangella, Arianna Panfili, Davide Ognibene, Gabriella Maria Squeo, Giuseppe Merla, Marcella Zollino
Clinical Genetics Can Solve the Pitfalls of Genome-Wide Investigations: Lesson from Mismapping a Loss-of-Function Variant in KANSL1. Genes 11 (10) (2020)
Julián Nevado, Karen S Ho, Marcella Zollino, Raquel Blanco, César Cobaleda, Christelle Golzio, Isabelle Beaudry-Bellefeuille, Sarah Berrocoso, Jacobo Limeres, Pilar Barrúz, Candela Serrano-Martín, Concetta Cafiero, Ignacio Málaga, Giuseppe Marangi, Elena Campos-Sánchez, Tania Moriyón-Iglesias, Sorangui Márquez, Leah Markham, Hope Twede, Amanda Lortz, Lenora Olson, Xiaoming Sheng, Cindy Weng, Edward Robert Wassman, Tara Newcomb, Edward Robert Wassman, John C Carey, Agatino Battaglia, Eduardo López-Granados, null null, Damien Douglas, Pablo Lapunzina
International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay. American journal of medical genetics. Part A 182 (1) (2019)
Marcella Zollino, Carlotta Ranieri, Valentina Grossi, Chiara Leoni, Serena Lattante, Daniela Mazzà, Cristiano Simone, Nicoletta Resta
Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay. Molecular genetics & genomic medicine 7 (8) (2019)
Margherita Lucia De Bernardi, Ivan Ivanovski, Stefano Giuseppe Caraffi, Ilenia Maini, Maria Elisabeth Street, Allan Bayat, Marcella Zollino, Francesca Romana Lepri, Maria Gnazzo, Edoardo Errichiello, Andrea Superti-Furga, Livia Garavelli
Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11. American journal of medical genetics. Part A 176 (9) (2018)
Giuseppe Marangi, Marilena C Di Giacomo, Serena Lattante, Daniela Orteschi, Sara Patrizi, Paolo N Doronzio, Francesco N Riviello, Alessandro Vaisfeld, Silvia Frangella, Marcella Zollino
A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders. American journal of medical genetics. Part A 176 (2) (2017)

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Publication Activity (10 Years)

Top Topics

Top Venues

Marcella Zollino