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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
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.
Characterizing trauma encounters among patients with language other than English preference at a level 1 trauma center's emergency department.
Olakunle OE, Bakdash L, Chai N, Amedi A, Ahuja A, Moran T, Loan P, Smith RN, Yaffee A, Zeidan A. Olakunle OE, et al. Among authors: smith rn. J Am Coll Emerg Physicians Open. 2024 Jun 5;5(3):e13205. doi: 10.1002/emp2.13205. eCollection 2024 Jun. J Am Coll Emerg Physicians Open. 2024. PMID: 38846103 Free PMC article.
The Role of Complement in Kidney Disease: Conclusions From a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.
Vivarelli M, Barratt J, Beck LH Jr, Fakhouri F, Gale DP, de Jorge EG, Mosca M, Noris M, Pickering MC, Susztak K, Thurman JM, Cheung M, King JM, Jadoul M, Winkelmayer WC, Smith RJH; for Conference Participants. Vivarelli M, et al. Among authors: smith rjh. Kidney Int. 2024 Jun 4:S0085-2538(24)00389-2. doi: 10.1016/j.kint.2024.05.015. Online ahead of print. Kidney Int. 2024. PMID: 38844295
The Changing Epidemiology of Traumatic Spine Injuries: A Trends Analysis of 26 Years of Patients at a Major Level 1 Trauma Center in the United States.
Chiu AK, Pease TJ, Prakash H, Oster BA, Smith RA, Sahlani M, Ratanpal AS, Amin I, Scalea TM, Bivona LJ, Jauregui JJ, Cavanaugh DL, Koh EY, Ludwig SC. Chiu AK, et al. Among authors: smith ra. Spine J. 2024 Jun 4:S1529-9430(24)00261-4. doi: 10.1016/j.spinee.2024.05.009. Online ahead of print. Spine J. 2024. PMID: 38843959
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