Paola Mandich (P Mandich)

ORCID

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 11

Top Venues

Journal of medical genetics

International journal of molecular sciences

Molecular genetics & genomic medicine

Clinical case reports

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

Publications

Alessandro Geroldi, Alessia Mammi, Andrea Gaudio, Serena Patrone, Andrea La Barbera, Paola Origone, Clarissa Ponti, Francesca Sanguineri, Sara Massucco, Lucio Marinelli, Marina Grandis, Angelo Schenone, Paola Mandich, Emilia Bellone, Fabio Gotta
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation. Journal of medical genetics (2024)
Alessandro Geroldi, Alessia Mammi, Andrea Gaudio, Serena Patrone, Andrea La Barbera, Paola Origone, Clarissa Ponti, Francesca Sanguineri, Sara Massucco, Lucio Marinelli, Marina Grandis, Angelo Schenone, Paola Mandich, Emilia Bellone, Fabio Gotta
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation. Journal of medical genetics 61 (9) (2024)
Alessandro Geroldi, Alessia Mammi, Andrea Gaudio, Serena Patrone, Andrea La Barbera, Paola Origone, Clarissa Ponti, Francesca Sanguineri, Sara Massucco, Lucio Marinelli, Marina Grandis, Angelo Schenone, Paola Mandich, Emilia Bellone, Fabio Gotta
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation. Journal of medical genetics 61 (9) (2024)
Alessandro Geroldi, Alessia Mammi, Andrea Gaudio, Serena Patrone, Andrea La Barbera, Paola Origone, Clarissa Ponti, Francesca Sanguineri, Sara Massucco, Lucio Marinelli, Marina Grandis, Angelo Schenone, Paola Mandich, Emilia Bellone, Fabio Gotta
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation. Journal of medical genetics (2024)
Gemma Marinella, Guja Astrea, Bianca Buchignani, Denise Cassandrini, Stefano Doccini, Massimiliano Mirabella, Daniele Galatolo, Salvatore Gallone, Fabio Giannini, Diego Lopergolo, Maria Antonietta Maioli, Francesca Magri, Alessandro Malandrini, Paola Mandich, Francesco Mari, Roberto Massa, Sabrina Mata, Federico Melani, Maurizio Moggio, Tiziana E Mongini, Rosa Pasquariello, Elena Pegoraro, Federica Silvia Ricci, Giulia Ricci, Carmelo Rodolico, Anna Rubegni, Gabriele Siciliano, Martina Sperti, Chiara Ticci, Paola Tonin, Filippo M Santorelli, Roberta Battini
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing. International journal of molecular sciences 23 (23) (2022)
Federica Ruscitti, Paola Origone, Giulia Rosti, Lucia Trevisan, Roberta Marchese, Andrea Brugnolo, Federico Massa, Paola Castellini, Paola Mandich
A case of Huntington disease-like 2 in a patient of African ancestry: the everlasting support of clinical examination in the molecular era. Clinical case reports 10 (10) (2022)
Gemma Marinella, Guja Astrea, Bianca Buchignani, Denise Cassandrini, Stefano Doccini, Massimiliano Mirabella, Daniele Galatolo, Salvatore Gallone, Fabio Giannini, Diego Lopergolo, Maria Antonietta Maioli, Francesca Magri, Alessandro Malandrini, Paola Mandich, Francesco Mari, Roberto Massa, Sabrina Mata, Federico Melani, Maurizio Moggio, Tiziana E Mongini, Rosa Pasquariello, Elena Pegoraro, Federica Silvia Ricci, Giulia Ricci, Carmelo Rodolico, Anna Rubegni, Gabriele Siciliano, Martina Sperti, Chiara Ticci, Paola Tonin, Filippo M Santorelli, Roberta Battini
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing. International journal of molecular sciences 23 (23) (2022)
Gemma Marinella, Guja Astrea, Bianca Buchignani, Denise Cassandrini, Stefano Doccini, Massimiliano Mirabella, Daniele Galatolo, Salvatore Gallone, Fabio Giannini, Diego Lopergolo, Maria Antonietta Maioli, Francesca Magri, Alessandro Malandrini, Paola Mandich, Francesco Mari, Roberto Massa, Sabrina Mata, Federico Melani, Maurizio Moggio, Tiziana E Mongini, Rosa Pasquariello, Elena Pegoraro, Federica Silvia Ricci, Giulia Ricci, Carmelo Rodolico, Anna Rubegni, Gabriele Siciliano, Martina Sperti, Chiara Ticci, Paola Tonin, Filippo M Santorelli, Roberta Battini
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing. International journal of molecular sciences 23 (23) (2022)
Gemma Marinella, Guja Astrea, Bianca Buchignani, Denise Cassandrini, Stefano Doccini, Massimiliano Mirabella, Daniele Galatolo, Salvatore Gallone, Fabio Giannini, Diego Lopergolo, Maria Antonietta Maioli, Francesca Magri, Alessandro Malandrini, Paola Mandich, Francesco Mari, Roberto Massa, Sabrina Mata, Federico Melani, Maurizio Moggio, Tiziana E Mongini, Rosa Pasquariello, Elena Pegoraro, Federica Silvia Ricci, Giulia Ricci, Carmelo Rodolico, Anna Rubegni, Gabriele Siciliano, Martina Sperti, Chiara Ticci, Paola Tonin, Filippo M Santorelli, Roberta Battini
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing. International journal of molecular sciences 23 (23) (2022)
Federica Ruscitti, Lucia Trevisan, Giulia Rosti, Fabio Gotta, Annalia Cianflone, Alessandro Geroldi, Paola Origone, Anna Pichiecchio, Simona Viglio, Maria Iascone, Paola Mandich
A novel mutation in COL3A1 associates to vascular Ehlers-Danlos syndrome with predominant musculoskeletal involvement. Molecular genetics & genomic medicine 9 (9) (2021)
M Grandis, L Obici, M Luigetti, C Briani, F Benedicenti, G Bisogni, M Canepa, F Cappelli, C Danesino, G M Fabrizi, S Fenu, G Ferrandes, C Gemelli, F Manganelli, A Mazzeo, L Melchiorri, F Perfetto, L G Pradotto, P Rimessi, G Tini, S Tozza, L Trevisan, D Pareyson, Paola Mandich
Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus. Orphanet journal of rare diseases 15 (1) (2020)

Paola Mandich.css-eqlu8i{font-size:small;padding-left:4px;} (P Mandich)

Publication Activity (10 Years)

Top Topics

Top Venues

Paola Mandich (P Mandich)