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Page 1
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Kaur M, Blair J, Devkota B, Fortunato S, Clark D, Lawrence A, Kim J, Do W, Semeo B, Katz O, Mehta D, Yamamoto N, Schindler E, Al Rawi Z, Wallace N, Wilde JJ, McCallum J, Liu J, Xu D, Jackson M, Rentas S, Tayoun AA, Zhe Z, Abdul-Rahman O, Allen B, Angula MA, Anyane-Yeboa K, Argente J, Arn PH, Armstrong L, Basel-Salmon L, Baynam G, Bird LM, Bruegger D, Ch'ng GS, Chitayat D, Clark R, Cox GF, Dave U, DeBaere E, Field M, Graham JM Jr, Gripp KW, Greenstein R, Gupta N, Heidenreich R, Hoffman J, Hopkin RJ, Jones KL, Jones MC, Kariminejad A, Kogan J, Lace B, Leroy J, Lynch SA, McDonald M, Meagher K, Mendelsohn N, Micule I, Moeschler J, Nampoothiri S, Ohashi K, Powell CM, Ramanathan S, Raskin S, Roeder E, Rio M, Rope AF, Sangha K, Scheuerle AE, Schneider A, Shalev S, Siu V, Smith R, Stevens C, Tkemaladze T, Toimie J, Toriello H, Turner A, Wheeler PG, White SM, Young T, Loomes KM, Pipan M, Harrington AT, Zackai E, Rajagopalan R, Conlin L, Deardorff MA, McEldrew D, Pie J, Ramos F, Musio A, Kline AD, Izumi K, Raible SE, Krantz ID. Kaur M, et al. Among authors: fortunato s. Am J Med Genet A. 2023 Aug;191(8):2113-2131. doi: 10.1002/ajmg.a.63247. Epub 2023 Jun 28. Am J Med Genet A. 2023. PMID: 37377026 Free PMC article.
Molecular Mechanisms Contributing to the Etiology of Congenital Diaphragmatic Hernia: A Review and Novel Cases.
Katz OL, Wild KT, McEldrew D, Kaur M, Raible S, Skraban CM, Zackai EH, Medne L, Izumi K, Fortunato S, Weatherly J, Hartman T, Deppen P, Blair J, Devkota B, Schindler E, Hedrick HL, Peranteau W, Krantz ID. Katz OL, et al. Among authors: fortunato s. J Pediatr. 2022 Jul;246:251-265.e2. doi: 10.1016/j.jpeds.2022.03.023. Epub 2022 Mar 18. J Pediatr. 2022. PMID: 35314152 Review. No abstract available.
A Centralized Approach for Practicing Genomic Medicine.
Biswas S, Medne L, Devkota B, Bedoukian E, Berrodin D, Izumi K, Deardorff MA, Tarpinian J, Leonard J, Pyle L, Gray C, Montgomery J, Williams T, Fortunato S, Weatherly J, McEldrew D, Kaur M, Raible SE, Wilkens A, Spinner NB, Skraban C, Krantz ID. Biswas S, et al. Among authors: fortunato s. Pediatrics. 2020 Mar;145(3):e20190855. doi: 10.1542/peds.2019-0855. Epub 2020 Feb 26. Pediatrics. 2020. PMID: 32102930 Free PMC article.
Network community detection via neural embeddings.
Kojaku S, Radicchi F, Ahn YY, Fortunato S. Kojaku S, et al. Among authors: fortunato s. Nat Commun. 2024 Nov 1;15(1):9446. doi: 10.1038/s41467-024-52355-w. Nat Commun. 2024. PMID: 39487114 Free PMC article.
What we should learn from pandemic publishing.
Sikdar S, Venturini S, Charpignon ML, Kumar S, Rinaldi F, Tudisco F, Fortunato S, Majumder MS. Sikdar S, et al. Among authors: fortunato s. Nat Hum Behav. 2024 Sep;8(9):1631-1634. doi: 10.1038/s41562-024-01969-7. Nat Hum Behav. 2024. PMID: 39251724 No abstract available.
The cAMP-dependent phosphorylation footprint in response to heat stress.
Domingo G, Marsoni M, Davide E, Fortunato S, de Pinto MC, Bracale M, Molla G, Gehring C, Vannini C. Domingo G, et al. Among authors: fortunato s. Plant Cell Rep. 2024 May 7;43(6):137. doi: 10.1007/s00299-024-03213-y. Plant Cell Rep. 2024. PMID: 38713285 Free PMC article.
Symmetry breaking in optimal transport networks.
Patwardhan S, Barthelemy M, Erkol Ş, Fortunato S, Radicchi F. Patwardhan S, et al. Among authors: fortunato s. Nat Commun. 2024 May 4;15(1):3758. doi: 10.1038/s41467-024-48068-9. Nat Commun. 2024. PMID: 38704371 Free PMC article.
264 results