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124 results

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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: toriello h. 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
Case of CLPB deficiency solved by HiFi long read genome sequencing and RNAseq.
Farrow E, Jay A, Means J, Younger S, Biswell R, Koseva B, Thiffault I, Pastinen T, Pappas K, Toriello H. Farrow E, et al. Among authors: toriello h. Am J Med Genet A. 2023 Dec;191(12):2908-2912. doi: 10.1002/ajmg.a.63365. Epub 2023 Aug 7. Am J Med Genet A. 2023. PMID: 37548286 No abstract available.
Learning by doing and creation of the shared discovery curriculum.
Sousa A, Mavis B, Laird-Fick H, DeMuth R, Gold J, Emery M, Ferenchick G, Paganini A, Colon-Berlingeri M, Arvidson C, Toriello H, Parker C, Malinowski R, Han C, Wagner D. Sousa A, et al. Among authors: toriello h. Med Educ Online. 2023 Dec;28(1):2181745. doi: 10.1080/10872981.2023.2181745. Med Educ Online. 2023. PMID: 36840962 Free PMC article.
2022 Association of Professors of Human and Medical Genetics (APHMG) consensus-based update of the core competencies for undergraduate medical education in genetics and genomics.
Massingham LJ, Nuñez S, Bernstein JA, Gardner DP, Parikh AS, Strovel ET, Quintero-Rivera F; Association of Professors of Human and Medical Genetics Course Directors Special Interest Group Medical Education Core Curriculum Workgroup. Massingham LJ, et al. Genet Med. 2022 Oct;24(10):2167-2179. doi: 10.1016/j.gim.2022.07.014. Epub 2022 Aug 31. Genet Med. 2022. PMID: 36040446 Free article.
Emotional intelligence in undergraduate medical students: a scoping review.
Toriello HV, Van de Ridder JMM, Brewer P, Mavis B, Allen R, Arvidson C, Kovar-Gough I, Novak E, O'Donnell J, Osuch J, Ulrich B. Toriello HV, et al. Adv Health Sci Educ Theory Pract. 2022 Mar;27(1):167-187. doi: 10.1007/s10459-021-10079-2. Epub 2021 Oct 28. Adv Health Sci Educ Theory Pract. 2022. PMID: 34709484 Review.
Focused Revision: Policy statement on folic acid and neural tube defects.
Prasad P, Mori M, Toriello HV; ACMG Professional Practice and Guidelines Committee. Prasad P, et al. Among authors: toriello hv. Genet Med. 2021 Dec;23(12):2464-2466. doi: 10.1038/s41436-021-01226-6. Epub 2021 Jul 6. Genet Med. 2021. PMID: 34230639 Free article. No abstract available.
124 results