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2020

Abnormal cortical neural synchronization mechanisms in quiet wakefulness are related to motor deficits, cognitive symptoms, and visual hallucinations in Parkinson's disease patients: an electroencephalographic study

Babiloni, C., Pascarelli, M. T., Lizio, R., Noce, G., Lopez, S., Rizzo, M., Ferri, R., Soricelli, A., Nobili, F., Arnaldi, D., Famà, F., Orzi, F., Buttinelli, C., Giubilei, F., Salvetti, M., Cipollini, V., Bonanni, L., Franciotti, R., Onofrj, M., Stirpe, P. & 22 others, Fuhr, P., Gschwandtner, U., Ransmayr, G., Aarsland, D., Parnetti, L., Farotti, L., Marizzoni, M., D'Antonio, F., De Lena, C., Güntekin, B., Hanoğlu, L., Yener, G., Emek-Savaş, D. D., Triggiani, A. I., Taylor, J. P., McKeith, I., Stocchi, F., Vacca, L., Hampel, H., Frisoni, G. B., De Pandis, M. F. & Del Percio, C., Jan 1 2020, (Accepted/In press) In : Neurobiology of Aging.

Research output: Contribution to journalArticle

A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy

Vetri, L., Calì, F., Vinci, M., Amato, C., Roccella, M., Granata, T., Freri, E., Solazzi, R., Romano, V. & Elia, M., Jan 1 2020, (Accepted/In press) In : European Journal of Medical Genetics. 103848.

Research output: Contribution to journalArticle

Open Access

A Prospective Study of Hematologic Complications and Long-Term Survival of Italian Patients Affected by Shwachman-Diamond Syndrome

Cesaro, S., Pegoraro, A., Sainati, L., Lucidi, V., Montemitro, E., Corti, P., Ramenghi, U., Nasi, C., Menna, G., Zecca, M., Danesino, C., Nicolis, E., Pasquali, F., Perobelli, S., Tridello, G., Farruggia, P. & Cipolli, M., Jan 1 2020, (Accepted/In press) In : Journal of Pediatrics.

Research output: Contribution to journalArticle

Open Access

A validation study of the clinical diagnosis of Dup15q syndrome: Which symptoms matter most?

Beghi, E., Giussani, G., Bianchi, E., Randazzo, G., Sarcona, V., Elia, M., Striano, P., Verrotti, A., Ferretti, A., Rebessi, E., Specchio, N. & Bonanni, P., Jan 2020, In : Seizure. 74, p. 26-30 5 p.

Research output: Contribution to journalArticle

Comparative analysis of 2 commercial molecular tests for the detection of gastroenteric viruses on stool samples

Sciandra, I., Piccioni, L., Coltella, L., Ranno, S., Giannelli, G., Falasca, F., Antonelli, G., Concato, C. & Turriziani, O., Jan 2020, In : Diagnostic Microbiology and Infectious Disease. 96, 1, 114893.

Research output: Contribution to journalArticle

Open Access

Compliance of clinical microbiology laboratories with recommendations for the diagnosis of bloodstream infections: Data from a nationwide survey in Italy

On behalf of the Italian Working Group for infections in Critically ill Patient of the Italian Association of Clinical Microbiologists (GLIPaC-AMCLI), Arena, F., Argentieri, M., Bernaschi, P., Fortina, G., Kroumova, V., Pecile, P., Rassu, M., Spanu, T., Rossolini, G. M. & Fontana, C., Feb 3 2020, In : MicrobiologyOpen. e1002.

Research output: Contribution to journalArticle

Open Access

Computed Tomography to Cone Beam Computed Tomography Deformable Image Registration for Contour Propagation Using Head and Neck, Patient-Based Computational Phantoms: A Multicenter Study

Loi, G., Fusella, M., Vecchi, C., Menna, S., Rosica, F., Gino, E., Maffei, N., Menghi, E., Savini, A., Roggio, A., Radici, L., Cagni, E., Lucio, F., Strigari, L., Strolin, S., Garibaldi, C., Romanò, C., Piovesan, M., Franco, P. & Fiandra, C., 2020, In : Practical Radiation Oncology.

Research output: Contribution to journalArticle

Extended release levodopa at bedtime as a treatment for nocturiain Parkinson's disease: An open label study

Brusa, L., Ponzo, V., Stefani, A., Ceravolo, R., Palermo, G., Agrò, E. F., Viselli, F., Altavista, M. C., Iani, C., Stocchi, F., Stanzione, P. & Vitale, C., Mar 15 2020, In : Journal of the Neurological Sciences. 410, 116625.

Research output: Contribution to journalArticle

Ex vivo models for research in extracorporeal membrane oxygenation: a systematic review of the literature

Malfertheiner, M. V., Broman, L. M., Vercaemst, L., Belliato, M., Aliberti, A., Di Nardo, M., Swol, J., Barrett, N., Pappalardo, F., Bělohlávek, J., Taccone, F. S., Millar, J. E., Crawford, L., Lorusso, R., Suen, J. Y. & Fraser, J. F., May 1 2020, In : Perfusion (United Kingdom). 35, 1_suppl, p. 38-49 12 p.

Research output: Contribution to journalArticle

Open Access

Frataxin deficiency induces lipid accumulation and affects thermogenesis in brown adipose tissue

Turchi, R., Tortolici, F., Guidobaldi, G., Iacovelli, F., Falconi, M., Rufini, S., Faraonio, R., Casagrande, V., Federici, M., De Angelis, L., Carotti, S., Francesconi, M., Zingariello, M., Morini, S., Bernardini, R., Mattei, M., Rosa, P. L., Piemonte, F., Lettieri-Barbato, D. & Aquilano, K., Jan 1 2020, In : Cell Death and Disease. 11, 1, 51.

Research output: Contribution to journalArticle

Open Access

Fundamental role of BMP15 in human ovarian folliculogenesis revealed by null and missense mutations associated with primary ovarian insufficiency

Rossetti, R., Ferrari, I., Bestetti, I., Moleri, S., Brancati, F., Petrone, L., Finelli, P. & Persani, L., Jan 1 2020, (Accepted/In press) In : Human Mutation.

Research output: Contribution to journalArticle

Genetic modifiers of respiratory function in Duchenne muscular dystrophy

CINRG-DNHS Investigators, Jan 1 2020, (Accepted/In press) In : Annals of Clinical and Translational Neurology.

Research output: Contribution to journalArticle

Open Access

HIV prevalence among adults in Rome: results of the MeDi (Measuring health Disparities in HIV prevention) survey. Part 2

MeDi Study Group & the MeDi Study Group , Jan 1 2020, In : Annali dell'Istituto Superiore di Sanita. 56, 1, p. 30-37 8 p.

Research output: Contribution to journalArticle

Humanin gene expression in fibroblast of down syndrome subjects

Salemi, M., Ridolfo, F., Salluzzo, M. G., Cannarrella, R., Giambirtone, M., Caniglia, S., Tirolo, C., Ferri, R. & Romano, C., Jan 1 2020, In : International Journal of Medical Sciences. 17, 3, p. 320-324 5 p.

Research output: Contribution to journalArticle

Open Access

Lack of Gut Secretory Immunoglobulin A in Memory B-Cell Dysfunction-Associated Disorders: A Possible Gut-Spleen Axis

Carsetti, R., Di Sabatino, A., Rosado, M. M., Cascioli, S., Piano Mortari, E., Milito, C., Grimsholm, O., Aranburu, A., Giorda, E., Tinozzi, F. P., Pulvirenti, F., Donato, G., Morini, F., Bagolan, P., Corazza, G. R. & Quinti, I., Jan 8 2020, In : Frontiers in Immunology. 10, 2937.

Research output: Contribution to journalArticle

Open Access

Long-Term Effectiveness of an E-Learning Program in Improving Health Care Professionals' Attitudes and Practices on Breastfeeding: A 1-Year Follow-Up Study

Colaceci, S., Zambri, F., D'Amore, C., De Angelis, A., Rasi, F., Pucciarelli, G. & Giusti, A., Apr 2020, In : Breastfeeding Medicine. 15, 4, p. 254-260 7 p.

Research output: Contribution to journalArticle

Long-term follow-up of 168 patients with X-linked agammaglobulinemia reveals increased morbidity and mortality

Lougaris, V., Soresina, A., Baronio, M., Montin, D., Martino, S., Signa, S., Volpi, S., Zecca, M., Marinoni, M., Baselli, L. A., Dellepiane, R. M., Carrabba, M., Fabio, G., Putti, M. C., Cinetto, F., Lunardi, C., Gazzurelli, L., Benvenuto, A., Bertolini, P., Conti, F. & 29 others, Consolini, R., Ricci, S., Azzari, C., Leonardi, L., Duse, M., Pulvirenti, F., Milito, C., Quinti, I., Cancrini, C., Finocchi, A., Moschese, V., Cirillo, E., Crescenzi, L., Spadaro, G., Marasco, C., Vacca, A., Cardinale, F., Martire, B., Trizzino, A., Licciardello, M., Cossu, F., Di Matteo, G., Badolato, R., Ferrari, S., Giliani, S., Pession, A., Ugazio, A., Pignata, C. & Plebani, A., Jan 1 2020, (Accepted/In press) In : Journal of Allergy and Clinical Immunology.

Research output: Contribution to journalArticle

Open Access

Meropenem vs standard of care for treatment of neonatal late onset sepsis (NeoMero1): A randomised controlled trial

NeoMero Consortium, Jan 1 2020, In : PLoS One. 15, 3, e0229380.

Research output: Contribution to journalArticle

Open Access

MKRN3 and KISS1R mutations in precocious and early puberty

Pagani, S., Calcaterra, V., Acquafredda, G., Montalbano, C., Bozzola, E., Ferrara, P., Gasparri, M., Villani, A. & Bozzola, M., Mar 30 2020, In : Italian Journal of Pediatrics. 46, 1, 1 p.

Research output: Contribution to journalArticle

Open Access

Modulation of Pro-Oxidant and Pro-Inflammatory Activities of M1 Macrophages by the Natural Dipeptide Carnosine

Fresta, C. G., Fidilio, A., Lazzarino, G., Musso, N., Grasso, M., Merlo, S., Amorini, A. M., Bucolo, C., Tavazzi, B., Lazzarino, G., Lunte, S. M., Caraci, F. & Caruso, G., Jan 25 2020, In : International Journal of Molecular Sciences. 21, 3

Research output: Contribution to journalArticle

Open Access

Multicentre Harmonisation of a Six-Colour Flow Cytometry Panel for Naïve/Memory T Cell Immunomonitoring

MacChia, I., La Sorsa, V., Ruspantini, I., Sanchez, M., Tirelli, V., Carollo, M., Fedele, G., Leone, P., Schiavoni, G., Buccione, C., Rizza, P., Nisticò, P., Palermo, B., Morrone, S., Stabile, H., Rughetti, A., Nuti, M., Zizzari, I. G., Fionda, C., Maggio, R. & 11 others, Capuano, C., Quintarelli, C., Sinibaldi, M., Agrati, C., Casetti, R., Rozo Gonzalez, A., Iacobone, F., Gismondi, A., Belardelli, F., Biffoni, M. & Urbani, F., Jan 1 2020, In : Journal of Immunology Research. 2020, 1938704.

Research output: Contribution to journalArticle

Open Access

Multicentre Italian study of SARS-CoV-2 infection in children and adolescents, preliminary data as at 10 April 2020

Garazzino, S., Montagnani, C., Donà, D., Meini, A., Felici, E., Vergine, G., Bernardi, S., Giacchero, R., Lo Vecchio, A., Marchisio, P., Nicolini, G., Pierantoni, L., Rabbone, I., Banderali, G., Denina, M., Venturini, E., Krzysztofiak, A., Badolato, R., Bianchini, S., Galli, L. & 3 others, Villani, A., Castelli-Gattinara, G. & The Italian Sitip-Sip Pediatric Infection Study Group, I. S-S. P. I. S. G., May 1 2020, In : Euro surveillance : bulletin Europeen sur les maladies transmissibles = European communicable disease bulletin. 25, 18

Research output: Contribution to journalArticle

Open Access

Neutrophil-to-lymphocyte ratio and lactate dehydrogenase as biomarkers for urothelial cancer treated with immunotherapy

Banna, G. L., Di Quattro, R., Malatino, L., Fornarini, G., Addeo, A., Maruzzo, M., Urzia, V., Rundo, F., Lipari, H., De Giorgi, U. & Basso, U., Jan 1 2020, (Accepted/In press) In : Clinical and Translational Oncology.

Research output: Contribution to journalArticle

Nonmyeloablative Alternative Donor Transplantation for Hodgkin and Non-Hodgkin Lymphoma: From the LWP-EBMT, Eurocord, and CIBMTR

Fatobene, G., Rocha, V., St Martin, A., Hamadani, M., Robinson, S., Bashey, A., Boumendil, A., Brunstein, C., Castagna, L., Dominietto, A., Finel, H., Chalandon, Y., Kenzey, C., Kharfan-Dabaja, M., Labussière-Wallet, H., Moraleda, J. M., Pastano, R., Perales, M. A., El Ayoubi, H. R., Ruggeri, A. & 7 others, Sureda, A., Volt, F., Yakoub-Agha, I., Zhang, M. J., Gluckman, E., Montoto, S. & Eapen, M., May 10 2020, In : Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 38, 14, p. 1518-1526 9 p.

Research output: Contribution to journalArticle

Oral immunotherapy in pediatrics

Arasi, S., Castagnoli, R. & Pajno, G. B., Feb 1 2020, In : Pediatric Allergy and Immunology. 31, S24, p. 51-53 3 p.

Research output: Contribution to journalArticle

Open Access

Perampanel tolerability in children and adolescents with focal epilepsy: Effects on behavior and executive functions

Operto, F. F., Pastorino, G. M. G., Mazza, R., Di Bonaventura, C., Matricardi, S., Verrotti, A., Carotenuto, M., Viggiano, A., Coppola, G. & Elia, M., Jan 1 2020, (Accepted/In press) In : Epilepsy and Behavior. 106879.

Research output: Contribution to journalArticle

Perception of prolonged extracorporeal membrane oxygenation in Europe: an EuroELSO survey

Lepper, P. M., Barrett, N. A., Swol, J., Lorusso, R., Di Nardo, M., Belliato, M., Bělohlávek, J. & Broman, L. M., May 1 2020, In : Perfusion (United Kingdom). 35, 1_suppl, p. 81-85 5 p.

Research output: Contribution to journalArticle

Open Access

Relationship between quality of life and behavioural disorders in children with persistent asthma: a Multiple Indicators Multiple Causes (MIMIC) model

the Italian Pediatric Severe Asthma Network (IPSAN) Program of Italian Paediatric Respiratory Society (IPRS), Dec 1 2020, In : Scientific Reports. 10, 1, 6957.

Research output: Contribution to journalArticle

Open Access

Renal safety in 3264 HCV patients treated with DAA-based regimens: Results from a large Italian real-life study: Digestive and Liver Disease

D'Ambrosio, R., Pasulo, L., Giorgini, A., Spinetti, A., Messina, E., Fanetti, I., Puoti, M., Aghemo, A., Viganò, P., Vinci, M., Menzaghi, B., Lombardi, A., Pan, A., Pigozzi, M. G., Grossi, P., Lazzaroni, S., Spinelli, O., Invernizzi, P., Maggiolo, F., Terreni, N. & 22 others, Monforte, A. D., Poggio, P. D., Taddei, M. T., Colombo, S., Pozzoni, P., Molteni, C., Brocchieri, A., Bhoori, S., Buscarini, E., Centenaro, R., Mendeni, M., Colombo, A. E., Di Marco, M., Dionigi, E., Bella, D., Borghi, M., Zuin, M., Zaltron, S., Noventa, F., Annalisa, D. S., Lampertico, P. & Fagiuoli, S., 2020, In : Dig. Liver Dis.. 52, 2, p. 190-198 9 p.

Research output: Contribution to journalArticle

Survey of PDA management in very low birth weight infants across Italy

On the behalf of the Italian Study Group of Neonatal Cardiology of the Italian Society of Neonatology, Feb 14 2020, In : Italian Journal of Pediatrics. 46, 1, 1 p.

Research output: Contribution to journalArticle

Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate

Catusi, I., Recalcati, M. P., Bestetti, I., Garzo, M., Valtorta, C., Alfonsi, M., Alghisi, A., Cappellani, S., Casalone, R., Caselli, R., Ceccarini, C., Ceglia, C., Ciaschini, A. M., Coviello, D., Crosti, F., D'Aprile, A., Fabretto, A., Genesio, R., Giagnacovo, M., Granata, P. & 20 others, Longo, I., Malacarne, M., Marseglia, G., Montaldi, A., Nardone, A. M., Palka, C., Pecile, V., Pessina, C., Postorivo, D., Redaelli, S., Renieri, A., Rigon, C., Tiberi, F., Tonelli, M., Villa, N., Zilio, A., Zuccarello, D., Novelli, A., Larizza, L. & Giardino, D., Jan 1 2020, In : Molecular Genetics and Genomic Medicine. 8, 1, e1056.

Research output: Contribution to journalArticle

Open Access

The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study

Neri, M., Rossi, R., Trabanelli, C., Mauro, A., Selvatici, R., Falzarano, M. S., Spedicato, N., Margutti, A., Rimessi, P., Fortunato, F., Fabris, M., Gualandi, F., Comi, G., Tedeschi, S., Seia, M., Fiorillo, C., Traverso, M., Bruno, C., Giardina, E., Piemontese, M. R. & 30 others, Merla, G., Cau, M., Marica, M., Scuderi, C., Borgione, E., Tessa, A., Astrea, G., Santorelli, F. M., Merlini, L., Mora, M., Bernasconi, P., Gibertini, S., Sansone, V., Mongini, T., Berardinelli, A., Pini, A., Liguori, R., Filosto, M., Messina, S., Vita, G., Toscano, A., Vita, G., Pane, M., Servidei, S., Pegoraro, E., Bello, L., Travaglini, L., Bertini, E., D'Amico, A. & Mercuri, E., Mar 3 2020, In : Frontiers in Genetics. 11, 131.

Research output: Contribution to journalArticle

Open Access

The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study

Neri, M., Rossi, R., Trabanelli, C., Mauro, A., Selvatici, R., Falzarano, M. S., Spedicato, N., Margutti, A., Rimessi, P., Fortunato, F., Fabris, M., Gualandi, F., Comi, G., Tedeschi, S., Seia, M., Fiorillo, C., Traverso, M., Bruno, C., Giardina, E., Piemontese, M. R. & 35 others, Merla, G., Cau, M., Marica, M., Scuderi, C., Borgione, E., Tessa, A., Astrea, G., Santorelli, F. M., Merlini, L., Mora, M., Bernasconi, P., Gibertini, S., Sansone, V., Mongini, T., Berardinelli, A., Pini, A., Liguori, R., Filosto, M., Messina, S., Vita, G., Toscano, A., Vita, G., Pane, M., Servidei, S., Pegoraro, E., Bello, L., Travaglini, L., Bertini, E., D'Amico, A., Ergoli, M., Politano, L., Torella, A., Nigro, V., Mercuri, E. & Ferlini, A., 2020, In : Frontiers in Genetics. 11, p. 131

Research output: Contribution to journalArticle

The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study: Frontiers in Genetics

Neri, M., Rossi, R., Trabanelli, C., Mauro, A., Selvatici, R., Falzarano, M. S., Spedicato, N., Margutti, A., Rimessi, P., Fortunato, F., Fabris, M., Gualandi, F., Comi, G., Tedeschi, S., Seia, M., Fiorillo, C., Traverso, M., Bruno, C., Giardina, E., Piemontese, M. R. & 34 others, Merla, G., Cau, M., Marica, M., Scuderi, C., Borgione, E., Tessa, A., Astrea, G., Santorelli, F. M., Merlini, L., Mora, M., Bernasconi, P., Gibertini, S., Sansone, V., Mongini, T., Berardinelli, A., Pini, A., Liguori, R., Filosto, M., Messina, S., Vita, G., Toscano, A., Pane, M., Servidei, S., Pegoraro, E., Bello, L., Travaglini, L., Bertini, E., D'Amico, A., Ergoli, M., Politano, L., Torella, A., Nigro, V., Mercuri, E. & Ferlini, A., 2020, In : Front. Genet.. 11, p. 131

Research output: Contribution to journalArticle

The role of HLA matching in unrelated donor hematopoietic stem cell transplantation for sickle cell disease in Europe

on behalf of Paediatric Diseases (PDWP) and Inborn Errors Working Parties (IEWP) of the EBMT, Jan 1 2020, (Accepted/In press) In : Bone Marrow Transplantation.

Research output: Contribution to journalArticle

The TANDEM investigation: efficacy and tolerability of levodopa-carbidopa intestinal gel in (LCIG) advanced Parkinson’s disease patients

Antonini, A., Abbruzzese, G., Berardelli, A., Modugno, N., Stroppa, I., Tamma, F., Sensi, M., Mancini, F., Cossu, G., Stefani, A., Tambasco, N., Tessitore, A., Fabbrini, G., Pontieri, F. E., Solla, P., Bentivoglio, A. R., Comi, C., Minafra, B., Riboldazzi, G., Melchionda, D. & 2 others, Martino, T. & Lopiano, L., Jan 1 2020, (Accepted/In press) In : Journal of Neural Transmission.

Research output: Contribution to journalArticle

Transcription factors involved in tumorigenesis are over-represented in mutated active DNA-binding sites in neuroblastoma A C

Capasso, M., Lasorsa, V. A., Cimmino, F., Avitabile, M., Cantalupo, S., Montella, A., De Angelis, B., Morini, M., De Torres, C., Castellano, A., Locatelli, F. & Iolascon, A., Feb 1 2020, In : Cancer Research. 80, 3, p. 382-393 12 p.

Research output: Contribution to journalArticle

Open Access

Whole grain consumption and human health: an umbrella review of observational studies

Tieri, M., Ghelfi, F., Vitale, M., Vetrani, C., Marventano, S., Lafranconi, A., Godos, J., Titta, L., Gambera, A., Alonzo, E., Sciacca, S., Riccardi, G., Buscemi, S., Del Rio, D., Ray, S., Galvano, F., Beck, E. & Grosso, G., Jan 1 2020, (Accepted/In press) In : International Journal of Food Sciences and Nutrition.

Research output: Contribution to journalArticle

Open Access
2019

(2S)-N-2-methoxy-2-phenylethyl-6,7-benzomorphan compound (2S-LP2): Discovery of a biased mu/delta opioid receptor agonist

Pasquinucci, L., Turnaturi, R., Calò, G., Pappalardo, F., Ferrari, F., Russo, G., Arena, E., Montenegro, L., Chiechio, S., Prezzavento, O. & Parenti, C., Apr 15 2019, In : European Journal of Medicinal Chemistry. 168, p. 189-198 10 p.

Research output: Contribution to journalArticle

A 15-Year-Old Girl With Sleep-Onset Insomnia and Poor Sleep Quality

DelRosso, L. M., Jackson, C. V. & Ferri, R., Jul 1 2019, In : Chest. 156, 1, p. e23-e26

Research output: Contribution to journalArticle

Open Access
Open Access

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging

Flex, E., Martinelli, S., Van Dijck, A., Ciolfi, A., Cecchetti, S., Coluzzi, E., Pannone, L., Andreoli, C., Radio, F. C., Pizzi, S., Carpentieri, G., Bruselles, A., Catanzaro, G., Pedace, L., Miele, E., Carcarino, E., Ge, X., Chijiwa, C., Lewis, M. E. S., Meuwissen, M. & 40 others, Kenis, S., Van der Aa, N., Larson, A., Brown, K., Wasserstein, M. P., Skotko, B. G., Begtrup, A., Person, R., Karayiorgou, M., Roos, J. L., Van Gassen, K. L., Koopmans, M., Bijlsma, E. K., Santen, G. W. E., Barge-Schaapveld, D. Q. C. M., Ruivenkamp, C. A. L., Hoffer, M. J. V., Lalani, S. R., Streff, H., Craigen, W. J., Graham, B. H., van den Elzen, A. P. M., Kamphuis, D. J., Õunap, K., Reinson, K., Pajusalu, S., Wojcik, M. H., Viberti, C., Di Gaetano, C., Bertini, E., Petrucci, S., De Luca, A., Rota, R., Ferretti, E., Matullo, G., Dallapiccola, B., Sgura, A., Walkiewicz, M., Kooy, R. F. & Tartaglia, M., Sep 5 2019, In : American Journal of Human Genetics. 105, 3, p. 493-508 16 p.

Research output: Contribution to journalArticle