R00 HG011491/HG/NHGRI NIH HHS/United States[Grants and Funding] - Search Results

Year	Number of Results
2022	1
2023	4
2024	5
2025	0

1

Parent-Reported Clinical Utility of Pediatric Genomic Sequencing.

Smith HS, Ferket BS, Gelb BD, Hindorff L, Ferar KD, Norton ME, Sahin-Hodoglugil N, Slavotinek A, Lich KH, Berg JS, Russell HV. Smith HS, et al. Pediatrics. 2023 Aug 1;152(2):e2022060318. doi: 10.1542/peds.2022-060318. Pediatrics. 2023. PMID: 37470118 Free PMC article.

2

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.

3

Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders.

Srivastava S, Cole JJ, Cohen JS, Chopra M, Smith HS, Deardorff MA, Pedapati E, Corner B, Anixt JS, Jeste S, Sahin M, Gurnett CA, Campbell CA; Intellectual and Developmental Disabilities Research Center (IDDRC) Workgroup on Advocating for Access to Genomic Testing. Srivastava S, et al. Ann Neurol. 2024 Nov;96(5):900-913. doi: 10.1002/ana.27045. Epub 2024 Sep 25. Ann Neurol. 2024. PMID: 39319594 Review.

4

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

5

Modernizing Newborn Screening in the Genomic Era: Importance of Health-Related Quality of Life.

Kim DeLuca E, Wu AC, Christensen KD, Wright DR, Yeh J, Smith HS. Kim DeLuca E, et al. Pharmacoecon Open. 2024 Nov;8(6):787-792. doi: 10.1007/s41669-024-00528-0. Epub 2024 Oct 3. Pharmacoecon Open. 2024. PMID: 39361115 Free PMC article. No abstract available.

6

Clinically Indicated Genomic Sequencing of Children in Foster Care: Legal and Ethical Issues.

Smith HS, Bonkowski ES, Hickingbotham MR, Pereira S, May T, Guerrini CJ. Smith HS, et al. J Pediatr. 2023 Nov;262:113612. doi: 10.1016/j.jpeds.2023.113612. Epub 2023 Jul 17. J Pediatr. 2023. PMID: 37468037 Free PMC article.

7

Framing the Family: A Qualitative Exploration of Factors That Shape Family-Level Experience of Pediatric Genomic Sequencing.

Smith HS, Bonkowski ES, Hickingbotham MR, Deloge RB, Pereira S. Smith HS, et al. Children (Basel). 2023 Apr 25;10(5):774. doi: 10.3390/children10050774. Children (Basel). 2023. PMID: 37238322 Free PMC article.

8

Measuring perceived utility of genomic sequencing: Development and validation of the GENEtic Utility (GENE-U) scale for pediatric diagnostic testing.

Smith HS, Rubanovich CK, Robinson JO, Levchenko AN, Classen SA, Malek J, Biesecker B, Brothers KB, Wilfond BS, Rini C, Knight SJ, McGuire AL, Bloss CS. Smith HS, et al. Genet Med. 2024 Aug;26(8):101146. doi: 10.1016/j.gim.2024.101146. Epub 2024 Apr 24. Genet Med. 2024. PMID: 38676451

9

Measuring perceived utility of genomic sequencing: Development and validation of the GENEtic Utility (GENE-U) scale for adult screening.

Smith HS, Rubanovich CK, Robinson JO, Levchenko AN, Classen SA, Malek J, Buchanan AH, Biesecker B, Brothers KB, Wilfond BS, Rini C, Bloss CS, McGuire AL, Knight SJ. Smith HS, et al. Genet Med. 2024 Nov;26(11):101240. doi: 10.1016/j.gim.2024.101240. Epub 2024 Aug 10. Genet Med. 2024. PMID: 39140259

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