Emanuele Agolini (E Agolini, M Rinelli)

Loop profile ResearcherID Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 47

Top Venues

Clinical genetics

Genes

American journal of medical genetics. Part A

Diagnostics (Basel, Switzerland)

Bambino Gesù Children's Hospital

Università degli Studi di Perugia (MSC)

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

Affiliation History

Bambino Gesù Children's Hospital

Italy

Molecular geneticist

University of Chicago

United States

Molecular biologist

Casa Sollievo della Sofferenza

Italy

Molecular biologist :: Mendel Institute

Education History

Università degli Studi di Perugia

Italy

MSC

Università degli Studi di Perugia

Italy

BSC

Publications

Elia Marco Paolo Minale, Alessandro De Falco, Emanuele Agolini, Antonio Novelli, Roberta Russo, Immacolata Andolfo, Achille Iolascon, Carmelo Piscopo
First Case of a Dominant De Novo SEC23A Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review. Genes 15 (1) (2024)
Elia Marco Paolo Minale, Alessandro De Falco, Emanuele Agolini, Antonio Novelli, Roberta Russo, Immacolata Andolfo, Achille Iolascon, Carmelo Piscopo
First Case of a Dominant De Novo SEC23A Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review. Genes 15 (1) (2024)
Elia Marco Paolo Minale, Alessandro De Falco, Emanuele Agolini, Antonio Novelli, Roberta Russo, Immacolata Andolfo, Achille Iolascon, Carmelo Piscopo
First Case of a Dominant De Novo SEC23A Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review. Genes 15 (1) (2024)
Elia Marco Paolo Minale, Alessandro De Falco, Emanuele Agolini, Antonio Novelli, Roberta Russo, Immacolata Andolfo, Achille Iolascon, Carmelo Piscopo
First Case of a Dominant De Novo SEC23A Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review. Genes 15 (1) (2024)
Lorenzo Sinibaldi, Giacomo Garone, Alessandra Mandarino, Giancarlo Iarossi, Laura Chioma, Maria Lisa Dentici, Giuseppe Merla, Emanuele Agolini, Alessia Micalizzi, Cecilia Mancini, Marcello Niceta, Marina Macchiaiolo, Daria Diodato, Roberta Onesimo, Rita Blandino, Angelica Bibiana Delogu, Gabriella De Rosa, Valentina Trevisan, Mariella Iademarco, Giuseppe Zampino, Tartaglia Marco, Antonio Novelli, Andrea Bartuli, Maria Christina Digilio, Giulio Calcagni
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness. Clinical genetics (2023)
Carmela Fusco, Grazia Nardella, Silvia Morlino, Lucia Micale, Vincenzo Tragni, Emanuele Agolini, Antonio Novelli, Stefania Massuras, Vincenzo Giambra, Ciro Leonardo Pierri, Marco Castori
Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKI alter molecular dynamics and may affect cell cycle. Journal of human genetics (2023)
Anna Paola Capra, Maria Angela La Rosa, Sara Briguori, Rosa Civa, Chiara Passarelli, Emanuele Agolini, Antonio Novelli, Silvana Briuglia
Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis. Genes 14 (2) (2023)
Anna Paola Capra, Maria Angela La Rosa, Sara Briguori, Rosa Civa, Chiara Passarelli, Emanuele Agolini, Antonio Novelli, Silvana Briuglia
Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis. Genes 14 (2) (2023)
Valentina Serpieri, Giulia Mortarini, Hailey Loucks, Tommaso Biagini, Alessia Micalizzi, Ilaria Palmieri, Jennifer C Dempsey, Fulvio D'Abrusco, Concetta Mazzotta, Roberta Battini, Enrico Silvio Bertini, Eugen Boltshauser, Renato Borgatti, Knut Brockmann, Stefano D'Arrigo, Nardo Nardocci, Rita Fischetto, Emanuele Agolini, Antonio Novelli, Alfonso Romano, Ludovica Pasca, Franco Stanzial, Sabrina Signorini, Pietro Strisciuglio, Simone Gana, Tommaso Mazza, Dan Doherty, Enza Maria Valente
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome. Journal of medical genetics (2023)
Anna Paola Capra, Maria Angela La Rosa, Sara Briguori, Rosa Civa, Chiara Passarelli, Emanuele Agolini, Antonio Novelli, Silvana Briuglia
Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis. Genes 14 (2) (2023)
Marcello Niceta, Simone Pizzi, Francesca Inzana, Angela Peron, Somayeh Bakhtiari, Mathilde Nizon, Jonathan Lévy, Cecilia Mancini, Benjamin Cogné, Francesca Clementina Radio, Emanuele Agolini, Dario Cocciadiferro, Antonio Novelli, Mustafa A Salih, Maria Paola Recalcati, Rosangela Arancio, Marianne Besnard, Anne-Claude Tabet, Michael C Kruer, Manuela Priolo, Bruno Dallapiccola, Tartaglia Marco
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype. Clinical genetics (2022)
Maria Antonietta De Ioris, Francesco Fabozzi, Mariachiara Lodi, Giulia Vitali, Maria Debora De Pasquale, Giada Del Baldo, Rachid Abbas, Emanuele Agolini, Alessandro Crocoli, Chiara Iacusso, Giuseppe Maria Milano, Annalisa Serra, Angela Mastronuzzi
The Fight Just Born-Neonatal Cancer: Rare Occurrence with a Favorable Outcome but Challenging Management. Cancers 14 (9) (2022)
Roberto Paparella, Anna Maria Caroleo, Emanuele Agolini, Giovanni Chillemi, Evelina Miele, Lucia Pedace, Martina Rinelli, Simone Pizzi, Luigi Boccuto, Giovanna Stefania Colafati, Mariachiara Lodi, Antonella Cacchione, Andrea Carai, Maria Cristina Digilio, Paolo Tomà, Tartaglia Marco, Angela Mastronuzzi
Posterior fossa ependymoma in neurodevelopmental syndrome caused by a de novo germline pathogenic POLR2A variant. American journal of medical genetics. Part A 188 (9) (2022)
Maria Anna Siano, Ilaria De Maggio, Roberta Petillo, Dario Cocciadiferro, Emanuele Agolini, Massimo Majolo, Antonio Novelli, Matteo Della Monica, Carmelo Piscopo
De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review. Pediatric reports 14 (1) (2022)
Angela Mastronuzzi, Francesco Fabozzi, Martina Rinelli, Rita De Vito, Emanuele Agolini, Giovanna Stefania Colafati, Antonella Cacchione, Andrea Carai, Maria Antonietta De Ioris
Liquid Biopsy with Detection of NRAS Q61K Mutation in Cerebrospinal Fluid: An Alternative Tool for the Diagnosis of Primary Pediatric Leptomeningeal Melanoma. Diagnostics (Basel, Switzerland) 12 (7) (2022)
Lisa Pavinato, Andrea Delle Vedove, Diana Carli, Marta Ferrero, Silvia Carestiato, Jennifer L Howe, Emanuele Agolini, Domenico A Coviello, Ingrid van de Laar, Ping Yee Billie Au, Eleonora Di Gregorio, Alessandra Fabbiani, Susanna Croci, Maria Antonietta Mencarelli, Lucia P Bruno, Alessandra Renieri, Danai Veltra, Christalena Sofocleous, Laurence Faivre, Benoit Mazel, Hana Safraou, Anne Sophie Denommé-Pichon, Marjon A van Slegtenhorst, Noor Giesbertz, Richard H van Jaarsveld, Anna Childers, R Curtis Rogers, Antonio Novelli, Silvia De Rubeis, Joseph D Buxbaum, Stephen W Scherer, Giovanni Battista Ferrero, Brunhilde Wirth, Alfredo Brusco
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD. Brain : a journal of neurology (2022)
Davide Vecchio, Dario Cocciadiferro, Marina Macchiaiolo, Michaela Veronika Gonfiantini, Emanuele Agolini, Marta Matraxia, Alessia Carboni, Antonella Coretti, Andrea Villani, Filippo Maria Panfili, Maria Lisa Dentici, Paola Sabrina Buonuomo, Ippolita Rana, Giovanna Stefania Colafati, Maria Christina Digilio, Antonio Novelli, Andrea Bartuli
Expanding the novel MAPKAPK5-related developmental disorder's genotype-phenotype correlation: Patient report and 19 months of follow-up. Clinical genetics 102 (2) (2022)
Francesca Peluso, Stefano Giuseppe Caraffi, Roberta Zuntini, Gabriele Trimarchi, Ivan Ivanovski, Lara Valeri, Veronica Barbieri, Maria Marinelli, Alessia Pancaldi, Nives Melli, Claudia Cesario, Emanuele Agolini, Elena Cellini, Francesca Clementina Radio, Antonella Crisafi, Manuela Napoli, Renzo Guerrini, Marco Tartaglia, Antonio Novelli, Giancarlo Gargano, Orsetta Zuffardi, Livia Garavelli
Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples. Genes 12 (7) (2021)
Enrica Marchionni, Emanuele Agolini, Gioia Mastromoro, Daniele Guadagnolo, Giulia Coppola, Mario Roggini, Mara Riminucci, Antonio Novelli, Antonella Giancotti, Alessandro Corsi, Antonio Pizzuti
Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2-opathy. American journal of medical genetics. Part A 185 (5) (2021)
Bradley S Bowles, Alejandro Ferrer, Carla J Nishimura, Filippo Pinto E Vairo, Tristan Rey, Bruno Leheup, Jennifer A Sullivan, Kelly Schoch, Nicholas Stong, Emanuele Agolini, Dario Cocciadiferro, Abigail Williams, Alex Cummings, Sara Loddo, Silvia Genovesea, Chelsea Roadhouse, Kirsty McWalter, null null, Ingrid M Wentzensen, Chumei Li, Dusica Babovic-Vuksanovic, Brendan C Lanpher, Maria Lisa Dentici, Arunkanth Ankala, J Austin Hamm, Bruno Dallapiccola, Francesca Clementina Radio, Vandana Shashi, Benedicte Gérard, Agnes Bloch-Zupan, Richard J Smith, Eric W Klee
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study. American journal of medical genetics. Part A 185 (8) (2021)
Alessandra Boni, Marco Ranalli, Giada Del Baldo, Roberto Carta, Mariachiara Lodi, Emanuele Agolini, Martina Rinelli, Diletta Valentini, Sabrina Rossi, Viola Alesi, Antonella Cacchione, Evelina Miele, Iside Alessi, Anna Maria Caroleo, Giovanna Stefania Colafati, Maria Antonietta De Ioris, Luigi Boccuto, Mario Balducci, Andrea Carai, Angela Mastronuzzi
Medulloblastoma Associated with Down Syndrome: From a Rare Event Leading to a Pathogenic Hypothesis. Diagnostics (Basel, Switzerland) 11 (2) (2021)
Silvia Majore, Emanuele Agolini, Lucia Micale, Giulia Pascolini, Paolo Zuppi, Dario Cocciadiferro, Silvia Morlino, Matteo Mattiuzzo, Michele Valiante, Marco Castori, Antonio Novelli, Paola Grammatico
Clinical presentation and molecular characterization of a novel patient with variant POC1A-related syndrome. Clinical genetics 99 (4) (2021)
Sarah Jane Beecroft, Marcos Ayala, George McGillivray, Vikas Nanda, Emanuele Agolini, Antonio Novelli, Maria C Digilio, Andrea Dotta, Rosalba Carrozzo, Joshua Clayton, Lydia Gaffney, Catriona A McLean, Jessica Ng, Nigel G Laing, Paul Matteson, James Millonig, Gianina Ravenscroft
Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects. Human mutation 42 (5) (2021)
Emanuele Agolini, Elena Botta, Mariachiara Lodi, Maria Christina Digilio, Martina Rinelli, Emanuele Bellacchio, Viola Alesi, Tiziana Nardo, Giovanna Zambruno, Donata Orioli, Iside Alessi, Luigi Boccuto, Sabrina Rossi, Andrea Carai, Giovanna Stefania Colafati, Antonella Cacchione, Bruno Dallapiccola, Antonio Novelli, Angela Mastronuzzi
Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene. Clinical genetics 99 (6) (2021)
Marco Ranalli, Alessandra Boni, Anna Maria Caroleo, Giada Del Baldo, Martina Rinelli, Emanuele Agolini, Sabrina Rossi, Evelina Miele, Giovanna Stefania Colafati, Luigi Boccuto, Iside Alessi, Maria Antonietta De Ioris, Antonella Cacchione, Rossella Capolino, Andrea Carai, Sabina Vennarini, Angela Mastronuzzi
Molecular Characterization of Medulloblastoma in a Patient with Neurofibromatosis Type 1: Case Report and Literature Review. Diagnostics (Basel, Switzerland) 11 (4) (2021)
Giuseppe Novelli, Jing Liu, Michela Biancolella, Tonino Alonzi, Antonio Novelli, Justin J Patten, Dario Cocciadiferro, Emanuele Agolini, Vito Luigi Colona, Barbara Rizzacasa, Rosalinda Giannini, Benedetta Bigio, Delia Goletti, Maria Rosaria Capobianchi, Sandro Grelli, Justin Mann, Trevor D McKee, Ke Cheng, Fatima Amanat, Florian Krammer, Andrea Guarracino, Gerardo Pepe, Carlo Tomino, Yacine Tandjaoui-Lambiotte, Yurdagul Uzunhan, Sarah Tubiana, Jade Ghosn, null null, null null, null null, Luigi D Notarangelo, Helen C Su, Laurent Abel, Aurélie Cobat, Gai Elhanan, Joseph J Grzymski, Andrea Latini, Sachdev S Sidhu, Suresh Jain, Robert A Davey, Jean-Laurent Casanova, Wenyi Wei, Pier Paolo Pandolfi
Inhibition of HECT E3 ligases as potential therapy for COVID-19. Cell death & disease 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)
Viviana Cordeddu, Erica L Macke, Francesca Clementina Radio, Stefania Lo Cicero, Francesca Pantaleoni, Massimo Tatti, Emanuele Bellacchio, Andrea Ciolfi, Emanuele Agolini, Alessandro Bruselles, Nicola Brunetti-Pierri, Mohnish Suri, Katherine S Josephs, Meriel McEntagart, Brendan Lanpher, Katherine C Nickels, Andrea Haworth, Laura Reed, Gerarda Cappuccio, Isabella Mammi, Jessica M Tarnowski, Antonio Novelli, null null, Daniela Melis, Bert Callewaert, Bruno Dallapiccola, Eric Klee, Tartaglia Marco
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome. Clinical genetics 98 (2) (2020)
Maria Lisa Dentici, Vittorio Maglione, Emanuele Agolini, Gino Catena, Rossella Capolino, Valentina Lanari, Antonio Novelli, Lorenzo Sinibaldi, Davide Vecchio, Michaela V Gonfiantini, Marina Macchiaiolo, Maria C Digilio, Bruno Dallapiccola, Andrea Bartuli
TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations. American journal of medical genetics. Part A 182 (8) (2020)
Andrea Latini, Emanuele Agolini, Antonio Novelli, Paola Borgiani, Rosalinda Giannini, Paolo Gravina, Andrea Smarrazzo, Mario Dauri, Massimo Andreoni, Paola Rogliani, Sergio Bernardini, Manuela Helmer-Citterich, Michela Biancolella, Giuseppe Novelli
COVID-19 and Genetic Variants of Protein Involved in the SARS-CoV-2 Entry into the Host Cells. Genes 11 (9) (2020)
Giulia Pascolini, Emanuele Agolini, Nicole Fleischer, Elisa Gulotta, Claudia Cesario, Gemma D'Elia, Antonio Novelli, Silvia Majore, Paola Grammatico
A novel patient with White-Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observations. American journal of medical genetics. Part A 182 (7) (2020)
Maria Camilla Rossi-Espagnet, Maria Lisa Dentici, Luca Pasquini, Chiara Carducci, Martina Lucignani, Daniela Longo, Emanuele Agolini, Antonio Novelli, Michaela V Gonfiantini, Maria C Digilio, Antonio Napolitano, Andrea Bartuli
Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2-year-old girl. American journal of medical genetics. Part A 182 (10) (2020)
Maria Gnazzo, Francesca Romana Lepri, Maria Lisa Dentici, Rossella Capolino, Elisa Pisaneschi, Emanuele Agolini, Martina Rinelli, Viola Alesi, Paolo Versacci, Silvia Genovesea, Claudia Cesario, Lorenzo Sinibaldi, Anwar Baban, Andrea Bartuli, Bruno Marino, Marco Cappa, Bruno Dallapiccola, Antonio Novelli, Maria Christina Digilio
KBG syndrome: Common and uncommon clinical features based on 31 new patients. American journal of medical genetics. Part A 182 (5) (2020)
Emanuele Agolini, Claudio Cherchi, Emanuele Bellacchio, Diego Martinelli, Dario Cocciadiferro, Renato Cutrera, Maria B Chiarini Testa, Chiara Barone, Sebastiano Bianca, Antonio Novelli
Expanding the clinical and molecular spectrum of lethal congenital contracture syndrome 8 associated with biallelic variants of ADCY6. Clinical genetics 97 (4) (2020)
Diego Martinelli, Giuseppe Fiermonte, Johannes Häberle, Sara Boenzi, Bianca Maria Goffredo, Lorena Travaglini, Emanuele Agolini, Vito Porcelli, Carlo Dionisi-Vici
CUGC for hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. European journal of human genetics : EJHG 28 (7) (2020)
Lucia Micale, Silvia Morlino, Annalisa Schirizzi, Emanuele Agolini, Grazia Nardella, Carmela Fusco, Stefano Castellana, Vito Guarnieri, Roberta Villa, Maria Francesca Bedeschi, Paola Grammatico, Antonio Novelli, Marco Castori
Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia. Genes 11 (12) (2020)
Emanuela Ponzi, Mattia Gentile, Emanuele Agolini, Emilia Matera, Roberto Palumbi, Antonia Lucia Buonadonna, Antonia Peschechera, Alessandra Gabellone, Maria Fatima Antonucci, Lucia Margari
14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies. Molecular genetics & genomic medicine 8 (7) (2020)
Mariachiara Lodi, Luigi Boccuto, Andrea Carai, Antonella Cacchione, Evelina Miele, Giovanna Stefania Colafati, Francesca Diomedi-Camassei, Luca De Palma, Alessandro De Benedictis, Elisabetta Ferretti, Giuseppina Catanzaro, Agnese Pò, Alessandro De Luca, Martina Rinelli, Francesca Romana Lepri, Emanuele Agolini, Marco Tartaglia, Franco Locatelli, Angela Mastronuzzi
Low-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the Literature. Diagnostics (Basel, Switzerland) 10 (8) (2020)
Diego Martinelli, Manuel Schiff, Michela Semeraro, Emanuele Agolini, Antonio Novelli, Carlo Dionisi-Vici
CUGC for lysinuric protein intolerance (LPI). European journal of human genetics : EJHG 28 (8) (2020)
Giulia Pascolini, Emanuele Agolini, Antonio Novelli, Silvia Majore, Paola Grammatico
The p.Arg377Trp variant in ACTL6A underlines a recognizable BAF-opathy phenotype. Clinical genetics 97 (4) (2020)
Silvia Morlino, Lucia Micale, Marco Ritelli, Marianne Rohrbach, Nicoletta Zoppi, Anthony Vandersteen, Sara Mackay, Emanuele Agolini, Dario Cocciadiferro, Erina Sasaki, Annalisa Madeo, Alessandro Ferraris, Willie Reardon, Maja Di Rocco, Antonio Novelli, Paola Grammatico, Fransiska Malfait, Tommaso Mazza, Alan Hakim, Cecilia Giunta, Marina Colombi, Marco Castori
COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap. Clinical genetics 97 (3) (2019)
Emanuele Agolini, E Bellacchio, F Berardinelli, G Pascolini, P Grammatico, A Sgura, A P Iori, L Quattrocchi, A Novelli, S Majore, E Agolini
Structural modeling of a novel TERC variant in a patient with aplastic anemia and short telomeres. Annals of hematology 98 (3) (2018)
Marco Castori, Chiara Fiorillo, Emanuele Agolini, Michele Sacco, Carlo Minetti, Antonio Novelli, Giuseppe Guglielmi, Enrico Bertini
Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14. American journal of medical genetics. Part A 179 (2) (2018)
Emanuele Agolini, M L Dentici, E Bellacchio, V Alesi, F C Radio, A Torella, F Musacchia, M Tartaglia, B Dallapiccola, V Nigro, M C Digilio, A Novelli
Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review. Clinical genetics 93 (3) (2018)
Mattia Gentile, Emanuele Agolini, Dario Cocciadiferro, Romina Ficarella, Emanuela Ponzi, Emanuele Bellacchio, Maria F Antonucci, Antonio Novelli
Novel exostosin-2 missense variants in a family with autosomal recessive exostosin-2-related syndrome: further evidences on the phenotype. Clinical genetics 95 (1) (2018)
Francesca Clementina Radio, Lavinia Di Meglio, Emanuele Agolini, Emanuele Bellacchio, Martina Rinelli, Paolo Toscano, Renata Boldrini, Antonio Novelli, Aniello Di Meglio, Bruno Dallapiccola
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism. Molecular genetics & genomic medicine 6 (3) (2018)
Emmanuel de Billy, Luisa Strocchio, Antonella Cacchione, Emanuele Agolini, Maria Gnazzo, Antonio Novelli, Rita De Vito, Rossella Capolino, Maria Cristina Digilio, Roberta Caruso, Angela Mastronuzzi, Franco Locatelli
Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel KMT2D mutation. American journal of medical genetics. Part A 179 (1) (2018)

Emanuele Agolini.css-eqlu8i{font-size:small;padding-left:4px;} (E Agolini, M Rinelli)

Publication Activity (10 Years)

Top Topics

Top Venues

Emanuele Agolini (E Agolini, M Rinelli)