List of Publications
-
Atypical cardiac defects in patients with RASopathies: Updated data on CARNET study
Calcagni G, Gagliostro G, Limongelli G, Unolt M, de Luca E, Digilio MC, Baban A, Albanese SB, Ferrero GB, Baldassarre G, Agnoletti G, Banaudi E, Marek J, Kaski JP, Tuo G, Marasini M, Cairello F, Madrigali A, Pacileo G, Russo MG, Milanesi O, Formigari R, Brighenti M, Ragni L, Donti A, Drago F, Dallapiccola B, Tartaglia M, Marino B, Versacci P
Birth defects research. 2020;112(10):725–31
-
Age and sex prevalence estimate of Joubert syndrome in Italy
Nuovo S, Bacigalupo I, Ginevrino M, Battini R, Bertini E, Borgatti R, Casella A, Micalizzi A, Nardella M, Romaniello R, Serpieri V, Zanni G, Valente EM, Vanacore N, JS Italian Study Group
Neurology. 2020;94(8):e797–801
-
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
Drivas TG, Li D, Nair D, Alaimo JT, Alders M, Altmüller J, Barakat TS, Bebin EM, Bertsch NL, Blackburn PR, Blesson A, Bouman AM, Brockmann K, Brunelle P, Burmeister M, Cooper GM, Denecke J, Dieux-Coëslier A, Dubbs H, Ferrer A, Gal D, Bartik LE, Gunderson LB, Hasadsri L, Jain M, Karimov C, Keena B, Klee EW, Kloth K, Lace B, Macchiaiolo M, Marcadier JL, Milunsky JM, Napier MP, Ortiz-Gonzalez XR, Pichurin PN, Pinner J, Powis Z, Prasad C, Radio FC, Rasmussen KJ, Renaud DL, Rush ET, Saunders C, Selcen D, Seman AR, Shinde DN, Smith ED, Smol T, Snijders Blok L, Stoler JM, Tang S, Tartaglia M, Thompson ML, van de Kamp JM, Wang J, Weise D, Weiss K, Woitschach R, Wollnik B, Yan H, Zackai EH, Zampino G, Campeau P, Bhoj E
European journal of human genetics : EJHG. 2020;28(10):1422–31
-
A new 1p36.13-1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis
Aagaard Nolting L, Brasch-Andersen C, Cox H, Kanani F, Parker M, Fry AE, Loddo S, Novelli A, Dentici ML, Joss S, Jørgensen JP, Fagerberg CR
Clinical genetics. 2020;97(6):927–32
-
A case series of CHARGE syndrome: identification of key features for a neonatal diagnosis
Bedeschi MF, Crippa BL, Colombo L, Buscemi M, Rossi C, Villa R, Gangi S, Picciolini O, Cinnante C, Fergnani VGC, Ajmone PF, Scola E, Triulzi F, Mosca F
Italian Journal of Pediatrics. 2020 Dec 23;46(1):53
-
(Epi)genetic profiling of extraembryonic and postnatal tissues from female monozygotic twins discordant for Beckwith–Wiedemann syndrome
Fontana L, Bedeschi MF, Cagnoli GA, Costanza J, Persico N, Gangi S, Porro M, Ajmone PF, Colapietro P, Santaniello C, Crippa M, Sirchia SM, Miozzo M, Tabano S
Molecular Genetics & Genomic Medicine. 2020 Sep 6;8(9)
-
Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery
Aleo S, Cinnante C, Avignone S, Prada E, Scuvera G, Ajmone PF, Selicorni A, Costantino MA, Triulzi F, Marchisio P, Gervasini C, Milani D
Frontiers in Cell and Developmental Biology. 2020 Aug 4;8
-
Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes – in pediatric patients screened with NGS panels
Chirita-Emandi A, Andreescu N, Zimbru CG, Tutac P, Arghirescu S, Serban M, Puiu M
Scientific reports. 2020;10(1):223
-
QRICH1 variants in Ververi-Brady syndrome-delineation of the genotypic and phenotypic spectrum
Föhrenbach M, Jamra RA, Borkhardt A, Brozou T, Muschke P, Popp B, Rey LK, Schaper J, Surowy H, Zenker M, Zweier C, Wieczorek D, Redler S
Clinical genetics. 2021;99(1):199–207
-
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20
Juven A, Nambot S, Piton A, Jean-Marçais N, Masurel A, Callier P, Marle N, Mosca-Boidron A-L, Kuentz P, Philippe C, Chevarin M, Duffourd Y, Gautier E, Munnich A, Rio M, Rondeau S, el Chehadeh S, Schaefer É, Gérard B, Bouquillon S, Delorme CV, Francannet C, Laffargue F, Gouas L, Isidor B, Vincent M, Blesson S, Giuliano F, Pichon O, le Caignec C, Journel H, Perrin-Sabourin L, Fabre-Teste J, Martin D, Vieville G, Dieterich K, Lacombe D, Denommé-Pichon A-S, Thauvin-Robinet C, Faivre L
European Journal of Human Genetics. 2020 Aug 18;28(8):1044–55