Smith HS - Search Results

1

Quality of life, illness perceptions, and parental lived experiences in TANGO2-related metabolic encephalopathy and arrhythmias.

Murali CN, Lalani SR, Azamian MS, Miyake CY, Smith HS. Murali CN, et al. Among authors: smith hs. Eur J Hum Genet. 2022 Sep;30(9):1044-1050. doi: 10.1038/s41431-022-01127-5. Epub 2022 Jun 13. Eur J Hum Genet. 2022. PMID: 35691983 Free PMC article.

2

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.

Meng L, Pammi M, Saronwala A, Magoulas P, Ghazi AR, Vetrini F, Zhang J, He W, Dharmadhikari AV, Qu C, Ward P, Braxton A, Narayanan S, Ge X, Tokita MJ, Santiago-Sim T, Dai H, Chiang T, Smith H, Azamian MS, Robak L, Bostwick BL, Schaaf CP, Potocki L, Scaglia F, Bacino CA, Hanchard NA, Wangler MF, Scott D, Brown C, Hu J, Belmont JW, Burrage LC, Graham BH, Sutton VR, Craigen WJ, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Muzny DM, Miller MJ, Wang X, Leduc MS, Xiao R, Liu P, Shaw C, Walkiewicz M, Bi W, Xia F, Lee B, Eng CM, Yang Y, Lalani SR. Meng L, et al. JAMA Pediatr. 2017 Dec 4;171(12):e173438. doi: 10.1001/jamapediatrics.2017.3438. Epub 2017 Dec 4. JAMA Pediatr. 2017. PMID: 28973083 Free PMC article.

3

Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature.

Smith HS, Swint JM, Lalani SR, Yamal JM, de Oliveira Otto MC, Castellanos S, Taylor A, Lee BH, Russell HV. Smith HS, et al. Genet Med. 2019 Jan;21(1):3-16. doi: 10.1038/s41436-018-0024-6. Epub 2018 May 14. Genet Med. 2019. PMID: 29760485 Free article. Review.

4

Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditions.

Smith HS, Swint JM, Lalani SR, de Oliveira Otto MC, Yamal JM, Russell HV, Lee BH. Smith HS, et al. Genet Med. 2020 Aug;22(8):1303-1310. doi: 10.1038/s41436-020-0798-1. Epub 2020 Apr 27. Genet Med. 2020. PMID: 32336750 Free article.

5

Perceptions of best practices for return of results in an international survey of psychiatric genetics researchers.

Lázaro-Muñoz G, Torgerson L, Smith HS, Pereira S. Lázaro-Muñoz G, et al. Among authors: smith hs. Eur J Hum Genet. 2021 Feb;29(2):231-240. doi: 10.1038/s41431-020-00738-0. Epub 2020 Oct 3. Eur J Hum Genet. 2021. PMID: 33011736 Free PMC article.

6

Key drivers of family-level utility of pediatric genomic sequencing: a qualitative analysis to support preference research.

Smith HS, Bonkowski ES, Deloge RB, Gutierrez AM, Recinos AM, Lavelle TA, Veenstra DL, McGuire AL, Pereira S. Smith HS, et al. Eur J Hum Genet. 2023 Apr;31(4):445-452. doi: 10.1038/s41431-022-01245-0. Epub 2022 Nov 25. Eur J Hum Genet. 2023. PMID: 36434257 Free PMC article.

7

Conceptualization of utility in translational clinical genomics research.

Smith HS, Brothers KB, Knight SJ, Ackerman SL, Rini C, Veenstra DL, McGuire AL, Wilfond BS, Malek J. Smith HS, et al. Am J Hum Genet. 2021 Nov 4;108(11):2027-2036. doi: 10.1016/j.ajhg.2021.08.013. Epub 2021 Oct 22. Am J Hum Genet. 2021. PMID: 34687653 Free PMC article. Review.

8

A call for an integrated approach to improve efficiency, equity and sustainability in rare disease research in the United States.

Halley MC, Smith HS, Ashley EA, Goldenberg AJ, Tabor HK. Halley MC, et al. Among authors: smith hs. Nat Genet. 2022 Mar;54(3):219-222. doi: 10.1038/s41588-022-01027-w. Nat Genet. 2022. PMID: 35256804 Free PMC article.

9

Parental Attitudes Toward Standard Newborn Screening and Newborn Genomic Sequencing: Findings From the BabySeq Study.

Armstrong B, Christensen KD, Genetti CA, Parad RB, Robinson JO, Blout Zawatsky CL, Zettler B, Beggs AH, Holm IA, Green RC, McGuire AL, Smith HS, Pereira S; BabySeq Project Team. Armstrong B, et al. Among authors: smith hs. Front Genet. 2022 Apr 27;13:867371. doi: 10.3389/fgene.2022.867371. eCollection 2022. Front Genet. 2022. PMID: 35571041 Free PMC article.

10

The BabySeq Project: A clinical trial of genome sequencing in a diverse cohort of infants.

Smith HS, Zettler B, Genetti CA, Hickingbotham MR, Coleman TF, Lebo M, Nagy A, Zouk H, Mahanta L, Christensen KD, Pereira S, Shah ND, Gold NB, Walmsley S, Edwards S, Homayouni R, Krasan GP, Hakonarson H, Horowitz CR, Gelb BD, Korf BR, McGuire AL, Holm IA, Green RC. Smith HS, et al. Am J Hum Genet. 2024 Oct 3;111(10):2094-2106. doi: 10.1016/j.ajhg.2024.08.011. Epub 2024 Sep 16. Am J Hum Genet. 2024. PMID: 39288765

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