Donatella Milani (D Milani)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 32

Top Topics

Intellectual Disability

Autism Spectrum Disorder

Histone Deacetylase

Top Venues

American journal of medical genetics. Part A

International journal of molecular sciences

Clinical genetics

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

Publications

Giulia Bruna Marchetti, Donatella Milani, Livia Pisciotta, Laura Pezzoli, Paola Marchisio, Berardo Rinaldi, Maria Iascone
The Phenotype-Based Approach Can Solve Cold Cases: The Paradigm of Mosaic Mutations of the CREBBP Gene. Genes 15 (6) (2024)
Francesca Cogliati, Letizia Straniero, Valeria Rimoldi, Maura Masciadri, Sara Perego, Berardo Rinaldi, Donatella Milani, Davide Gentilini, Lidia Larizza, Rosanna Asselta, Silvia Russo, Maria Francesca Bedeschi
Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith-Magenis-like syndrome. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics (2024)
Francesca Cogliati, Letizia Straniero, Valeria Rimoldi, Maura Masciadri, Sara Perego, Berardo Rinaldi, Donatella Milani, Davide Gentilini, Lidia Larizza, Rosanna Asselta, Silvia Russo, Maria Francesca Bedeschi
Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith-Magenis-like syndrome. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 195 (6) (2024)
Giulia Bruna Marchetti, Donatella Milani, Livia Pisciotta, Laura Pezzoli, Paola Marchisio, Berardo Rinaldi, Maria Iascone
The Phenotype-Based Approach Can Solve Cold Cases: The Paradigm of Mosaic Mutations of the CREBBP Gene. Genes 15 (6) (2024)
Giulia Bruna Marchetti, Donatella Milani, Livia Pisciotta, Laura Pezzoli, Paola Marchisio, Berardo Rinaldi, Maria Iascone
The Phenotype-Based Approach Can Solve Cold Cases: The Paradigm of Mosaic Mutations of the CREBBP Gene. Genes 15 (6) (2024)
Barbara Testa, Giuseppina Conteduca, Marina Grasso, Massimiliano Cecconi, Francesca Lantieri, Chiara Baldo, Alessia Arado, Laura Andraghetti, Michela Malacarne, Donatella Milani, Domenico A Coviello, null Sotos Collaborative Group
Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome. Genes 14 (2) (2023)
Viviana Tritto, Federico Grilli, Donatella Milani, Paola Riva
Deregulated expression of polycomb repressive complex 2 target genes in a NF1 patient with microdeletion generating the RNF135-SUZ12 chimeric gene. Neurogenetics (2023)
Silvia Cannova, Camilla Meossi, Federico Grilli, Donatella Milani, Federica Alberti, Claudia Cesaretti, Paola Giovanna Marchisio, Francesca Crosti, Lidia Pezzani
CATSHL syndrome, a new family and phenotypic expansion. Clinical genetics (2023)
Barbara Testa, Giuseppina Conteduca, Marina Grasso, Massimiliano Cecconi, Francesca Lantieri, Chiara Baldo, Alessia Arado, Laura Andraghetti, Michela Malacarne, Donatella Milani, Domenico A Coviello, null Sotos Collaborative Group
Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome. Genes 14 (2) (2023)
Maria Luca, Diana Carli, Simona Cardaropoli, Donatella Milani, Guido Cocchi, Chiara Leoni, Marina Macchiaiolo, Andrea Bartuli, Luigi Tarani, Daniela Melis, Piera Bontempo, Gemma D'Elia, Elisabetta Prada, Raffaele Vitale, Angelina Grammegna, Pierpaola Tannorella, Angela Sparago, Laura Pignata, Andrea Riccio, Silvia Russo, Giovanni Battista Ferrero, Alessandro Mussa
Performance Metrics of the Scoring System for the Diagnosis of the Beckwith-Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development. Cancers 15 (3) (2023)
Barbara Testa, Giuseppina Conteduca, Marina Grasso, Massimiliano Cecconi, Francesca Lantieri, Chiara Baldo, Alessia Arado, Laura Andraghetti, Michela Malacarne, Donatella Milani, Domenico A Coviello, null Sotos Collaborative Group
Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome. Genes 14 (2) (2023)
Maria Luca, Diana Carli, Simona Cardaropoli, Donatella Milani, Guido Cocchi, Chiara Leoni, Marina Macchiaiolo, Andrea Bartuli, Luigi Tarani, Daniela Melis, Piera Bontempo, Gemma D'Elia, Elisabetta Prada, Raffaele Vitale, Angelina Grammegna, Pierpaola Tannorella, Angela Sparago, Laura Pignata, Andrea Riccio, Silvia Russo, Giovanni Battista Ferrero, Alessandro Mussa
Performance Metrics of the Scoring System for the Diagnosis of the Beckwith-Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development. Cancers 15 (3) (2023)
Barbara Testa, Giuseppina Conteduca, Marina Grasso, Massimiliano Cecconi, Francesca Lantieri, Chiara Baldo, Alessia Arado, Laura Andraghetti, Michela Malacarne, Donatella Milani, Domenico A Coviello, null Sotos Collaborative Group
Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome. Genes 14 (2) (2023)
Diana Carli, Matteo Operti, Silvia Russo, Guido Cocchi, Donatella Milani, Chiara Leoni, Elisabetta Prada, Daniela Melis, Mariateresa Falco, Jennifer Spina, Vera Uliana, Osimani Sara, Fabio Sirchia, Luigi Tarani, Marina Macchiaiolo, Flavia Cerrato, Angela Sparago, Laura Pignata, Pierpaola Tannorella, Simona Cardaropoli, Andrea Bartuli, Andrea Riccio, Giovanni Battista Ferrero, Alessandro Mussa
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques. Clinical genetics 102 (4) (2022)
Paola Castronovo, Sebastiano Aleo, Agostino Seresini, Federico Grilli, Emilio Brunati, Paola Marchisio, Sophie Guez, Donatella Milani
Let Time Teach You: A Case Report of a Double Diagnosis of 17P Duplication and Ehlers-Danlos Syndrome. Genes 13 (12) (2022)
Paola Castronovo, Sebastiano Aleo, Agostino Seresini, Federico Grilli, Emilio Brunati, Paola Marchisio, Sophie Guez, Donatella Milani
Let Time Teach You: A Case Report of a Double Diagnosis of 17P Duplication and Ehlers-Danlos Syndrome. Genes 13 (12) (2022)
Sara Perego, Valentina Alari, Gianluca Pietra, Andrea Lamperti, Alessandro Vimercati, Nicole Camporeale, Maria Garzo, Francesca Cogliati, Donatella Milani, Aglaia Vignoli, Angela Peron, Lidia Larizza, Tommaso Pizzorusso, Silvia Russo
Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants. International journal of molecular sciences 23 (22) (2022)
Erica Rosina, Lidia Pezzani, Laura Pezzoli, Daniela Marchetti, Matteo Bellini, Alba Pilotta, Olga Calabrese, Emanuele Nicastro, Francesco Cirillo, Anna Cereda, Agnese Scatigno, Donatella Milani, Maria Iascone
Atypical, Composite, or Blended Phenotypes: How Different Molecular Mechanisms Could Associate in Double-Diagnosed Patients. Genes 13 (7) (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)
Paola Castronovo, Sebastiano Aleo, Agostino Seresini, Federico Grilli, Emilio Brunati, Paola Marchisio, Sophie Guez, Donatella Milani
Let Time Teach You: A Case Report of a Double Diagnosis of 17P Duplication and Ehlers-Danlos Syndrome. Genes 13 (12) (2022)
Ilaria Bestetti, Milena Crippa, Alessandra Sironi, Francesca Tumiatti, Maura Masciadri, Marie Falkenberg Smeland, Swati Naik, Oliver Murch, Maria Teresa Bonati, Alice Spano, Elisa Cattaneo, Milena Mariani, Fabio Gotta, Francesca Crosti, Pietro Cavalli, Chiara Pantaleoni, Federica Natacci, Maria Francesca Bedeschi, Donatella Milani, Silvia Maitz, Angelo Selicorni, Luigina Spaccini, Angela Peron, Silvia Russo, Lidia Larizza, Karen Low, Palma Finelli
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome. International journal of molecular sciences 23 (11) (2022)
Paola Castronovo, Sebastiano Aleo, Agostino Seresini, Federico Grilli, Emilio Brunati, Paola Marchisio, Sophie Guez, Donatella Milani
Let Time Teach You: A Case Report of a Double Diagnosis of 17P Duplication and Ehlers-Danlos Syndrome. Genes 13 (12) (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)
Pierpaola Tannorella, Daniele Minervino, Sara Guzzetti, Alessandro Vimercati, Luciano Calzari, Giuseppa Patti, Mohamad Maghnie, Anna Elsa Maria Allegri, Donatella Milani, Giulietta Scuvera, Milena Mariani, Piergiorgio Modena, Angelo Selicorni, Lidia Larizza, Silvia Russo
Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases. Genes 12 (4) (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)
Claudia Ciaccio, Chiara Pantaleoni, Donatella Milani, Enrico Alfei, Francesca L Sciacca, Laura Canafoglia, Alessandra Erbetta, Stefano D'Arrigo
Neurological phenotype of Potocki-Lupski syndrome. American journal of medical genetics. Part A 182 (10) (2020)
Elena Cacciatori, Mara Lelii, Silvia Russo, Valentina Alari, Maura Masciadri, Sophie Guez, Maria Francesca Patria, Paola Marchisio, Donatella Milani
Sleep disordered breathing and daytime hypoventilation in a male with MECP2 mutation. American journal of medical genetics. Part A 182 (12) (2020)
Sebastiano Aleo, Donatella Milani, Alessandra Pansa, Paola Marchisio, Silvana Guerneri, Rosamaria Silipigni
Autism spectrum disorder and intellectual disability in an inherited 2q14.3 micro-deletion involving CNTNAP5. American journal of medical genetics. Part A 182 (12) (2020)
Elisabetta Pangallo, Paola Cianci, Filippo Favuzza, Donatella Milani, Chiara Vimercati, Alex Moretti, Raffaella Picchi, Anita De Paoli, Massimo Agosti, Angelo Selicorni
Pulmonary function in Williams-Beuren syndrome: Spirometric data of 22 Italian patients. American journal of medical genetics. Part A 185 (2) (2020)
Benedetta Beltrami, Elisabetta Prada, Gianluca Tolva, Giulietta Scuvera, Rosamaria Silipigni, Daniela Graziani, Gaetano Bulfamante, Cristina Gervasini, Paola Marchisio, Donatella Milani
Unexpected phenotype in a frameshift mutation of PTCH1. Molecular genetics & genomic medicine 8 (1) (2019)
Laura Fontana, M F Bedeschi, S Maitz, A Cereda, C Faré, S Motta, A Seresini, P D'Ursi, Alessandro Orro, V Pecile, M Calvello, A Selicorni, F Lalatta, Donatella Milani, Silvia Maria Sirchia, Monica Rosa Miozzo, Silvia Maria Tabano
Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders. Epigenetics 13 (9) (2018)
Donatella Milani, Giulietta Scuvera, Marta Gatti, Gianluca Tolva, Francesca Bonarrigo, Susanna Esposito, Cristina Gervasini
Perthes disease: A new finding in Floating-Harbor syndrome. American journal of medical genetics. Part A 176 (3) (2018)