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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: smith r. 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.
Polytopic anomalies with agenesis of the lower vertebral column.
Bohring A, Lewin SO, Reynolds JF, Voigtländer T, Rittinger O, Carey JC, Köpernik M, Smith R, Zackai EH, Leonard NJ, Gritter HL, Bamforth JS, Okun N, McLeod DR, Super M, Powell P, Mundlos S, Hennekam RC, van Langen IM, Viskochil DH, Wiedemann HR, Opitz JM. Bohring A, et al. Among authors: smith r. Am J Med Genet. 1999 Nov 19;87(2):99-114. Am J Med Genet. 1999. PMID: 10533024 Review.
Single-Cell and Spatial Multi-omics Reveal Interferon Signaling in the Pathogenesis of Perianal Fistulizing Crohn's Disease.
Cao S, Nguyen KM, Ma K, Yao X, Liu TC, Ayoub M, Devi J, Liu Y, Smith R, Silviera M, Hunt SR, Wise PE, Mutch MG, Glasgow SC, Chapman WC, Cowan M, Ciorba MA, Colonna M, Deepak P. Cao S, et al. Among authors: smith r. bioRxiv [Preprint]. 2024 Nov 10:2024.11.08.620717. doi: 10.1101/2024.11.08.620717. bioRxiv. 2024. PMID: 39574705 Free PMC article. Preprint.
Spatial and temporal distribution of Ixodes scapularis and tick-borne pathogens across the northeastern United States.
Price LE, Winter JM, Cantoni JL, Cozens DW, Linske MA, Williams SC, Dill GM, Gardner AM, Elias SP, Rounsville TF Jr, Smith RP Jr, Palace MW, Herrick C, Prusinski MA, Casey P, Doncaster EM, Savage JDT, Wallace DI, Shi X. Price LE, et al. Among authors: smith rp jr. Parasit Vectors. 2024 Nov 22;17(1):481. doi: 10.1186/s13071-024-06518-9. Parasit Vectors. 2024. PMID: 39574137
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