U01 HG006485/HG/NHGRI NIH HHS/United States[Grants and Funding] - Search Results

Year	Number of Results
2012	3
2013	8
2014	8
2015	14
2016	16
2017	10
2018	11
2019	10
2020	7
2021	10
2022	11
2023	8
2024	3

1

Measuring health-related quality of life in children with suspected genetic conditions: validation of the PedsQL proxy-report versions.

Smith HS, Leo M, Goddard K, Muessig K, Angelo F, Knight S, Outram S, Kelly NR, Rini C. Smith HS, et al. Qual Life Res. 2024 Mar 12. doi: 10.1007/s11136-024-03623-1. Online ahead of print. Qual Life Res. 2024. PMID: 38472717

2

Families' experiences accessing care after genomic sequencing in the pediatric cancer context: "It's just been a big juggle".

Vuocolo B, Gutierrez AM, Robinson JO, Recinos AM, Desrosiers LR, Majumder MA, Bernini JC, Gill J, Griffin T, Tomlinson GE, Vallance K, McGuire AL, Parsons DW, Plon SE, Scollon S. Vuocolo B, et al. J Genet Couns. 2024 Jan 15. doi: 10.1002/jgc4.1858. Online ahead of print. J Genet Couns. 2024. PMID: 38225886

3

The motivation and process for developing a consortium-wide time and motion study to estimate resource implications of innovations in the use of genome sequencing to inform patient care.

Hoban HG, Yip TA, Chau JC, Bensen JT, Desrosiers LR, Finnila CR, Hindorff LA, Kelly NR, Lynch FL, Rolf BA, Smith HS, Wasserstein MP, Hassmiller Lich K. Hoban HG, et al. Clin Transl Sci. 2024 Jan;17(1):e13635. doi: 10.1111/cts.13635. Epub 2023 Dec 8. Clin Transl Sci. 2024. PMID: 38064200 Free PMC article. Review.

4

Combined Bioinformatic and Splicing Analysis of Likely Benign Intronic and Synonymous Variants Reveals Evidence for Pathogenicity.

Hirschi OR, Felker SA, Rednam SP, Vallance KL, Parsons DW, Roy A, Cooper GM, Plon SE. Hirschi OR, et al. medRxiv [Preprint]. 2023 Nov 1:2023.10.30.23297632. doi: 10.1101/2023.10.30.23297632. medRxiv. 2023. PMID: 37961416 Free PMC article. Preprint.

5

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

6

Circulating tumor DNA sequencing of pediatric solid and brain tumor patients: An institutional feasibility study.

Mangum R, Reuther J, Sen Baksi K, Gandhi I, Zabriskie RC, Recinos A, Raesz-Martinez R, Lin FY, Potter SL, Sher AC, Kralik SF, Mohila CA, Chintagumpala MM, Muzny D, Hu J, Gibbs RA, Fisher KE, Bernini JC, Gill J, Griffin TC, Tomlinson GE, Vallance KL, Plon SE, Roy A, Parsons DW. Mangum R, et al. Pediatr Hematol Oncol. 2023;40(8):719-738. doi: 10.1080/08880018.2023.2228837. Epub 2023 Jun 27. Pediatr Hematol Oncol. 2023. PMID: 37366551

7

Germline pathogenic SMARCA4 variants in neuroblastoma.

Witkowski L, Nichols KE, Jongmans M, van Engelen N, de Krijger RR, Herrera-Mullar J, Tytgat L, Bahrami A, Mar Fan H, Davidson AL, Robertson T, Anderson M, Hasselblatt M, Plon SE, Foulkes WD. Witkowski L, et al. J Med Genet. 2023 Oct;60(10):987-992. doi: 10.1136/jmg-2022-108854. Epub 2023 Feb 22. J Med Genet. 2023. PMID: 36813544

8

Views of Adolescents and Young Adults with Cancer and Their Oncologists Toward Patients' Participation in Genomic Research.

Gutierrez AM, Robinson JO, Raesz-Martinez R, Canfield I, Majumder MA, Scollon S, Desrosiers LR, Hsu RL, Allen-Rhoades W, Parsons DW, Plon SE, McGuire AL, Malek J. Gutierrez AM, et al. J Adolesc Young Adult Oncol. 2023 Oct;12(5):773-781. doi: 10.1089/jayao.2022.0066. Epub 2023 Jan 2. J Adolesc Young Adult Oncol. 2023. PMID: 36595372

9

Lessons learned while starting multi-institutional genetics research in diverse populations: A report from the Clinical Sequencing Evidence-Generating Research (CSER) consortium.

Russell H, Smith HS, Bensen JT, Murali P, Ferket BS, Finnila C, Hindorff LA, Sahin-Hodoglugil N. Russell H, et al. Contemp Clin Trials. 2023 Feb;125:107063. doi: 10.1016/j.cct.2022.107063. Epub 2022 Dec 22. Contemp Clin Trials. 2023. PMID: 36567057 Free PMC article.

10

Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing.

Bowling KM, Thompson ML, Kelly MA, Scollon S, Slavotinek AM, Powell BC, Kirmse BM, Hendon LG, Brothers KB, Korf BR, Cooper GM, Greally JM, Hurst ACE. Bowling KM, et al. Genome Med. 2022 Nov 21;14(1):131. doi: 10.1186/s13073-022-01139-2. Genome Med. 2022. PMID: 36414972 Free PMC article.

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