Haley JS - Search Results

1

Genome-first determination of the prevalence and penetrance of eight germline myeloid malignancy predisposition genes: a study of two population-based cohorts.

Hendricks RM, Kim J, Haley JS, Ramos ML, Mirshahi UL, Carey DJ, Stewart DR, McReynolds LJ. Hendricks RM, et al. Among authors: haley js. Leukemia. 2024 Nov 6. doi: 10.1038/s41375-024-02436-y. Online ahead of print. Leukemia. 2024. PMID: 39501104

2

A genome-first approach to characterize DICER1 pathogenic variant prevalence, penetrance and cancer, thyroid, and other phenotypes in 2 population-scale cohorts.

Kim J, Haley J, Hatton JN, Mirshahi UL, Rao HS, Ramos MF, Smelser D, Urban G, Schultz KAP, Carey DJ, Stewart DR. Kim J, et al. Genet Med Open. 2024;2:101846. doi: 10.1016/j.gimo.2024.101846. Epub 2024 Apr 11. Genet Med Open. 2024. PMID: 39070603 Free PMC article.

3

A Genome-First Approach to Characterize DICER1 Pathogenic Variant Prevalence, Penetrance, and Phenotype.

Mirshahi UL, Kim J, Best AF, Chen ZE, Hu Y, Haley JS, Golden A, Stahl R, Manickam K, Carr AG, Harney LA, Field A, Hatton J, Schultz KAP, Bauer AJ, Hill DA, Rosenberg PS, Murray MF, Carey DJ, Stewart DR. Mirshahi UL, et al. Among authors: haley js. JAMA Netw Open. 2021 Feb 1;4(2):e210112. doi: 10.1001/jamanetworkopen.2021.0112. JAMA Netw Open. 2021. PMID: 33630087 Free PMC article.

4

A Genome-First Approach to Estimate Prevalence of Germline Pathogenic Variants and Risk of Pancreatic Cancer in Select Cancer Susceptibility Genes.

Astiazaran-Symonds E, Kim J, Haley JS, Kim SY, Rao HS, Genetics Center R, Carey DJ, Stewart DR, Goldstein AM. Astiazaran-Symonds E, et al. Among authors: haley js. Cancers (Basel). 2022 Jul 2;14(13):3257. doi: 10.3390/cancers14133257. Cancers (Basel). 2022. PMID: 35805029 Free PMC article.

5

Association of varicose veins with rare protein-truncating variants in PIEZO1 identified by exome sequencing of a large clinical population.

Smelser DT, Haley JS, Ryer EJ, Elmore JR, Cook AM, Carey DJ. Smelser DT, et al. Among authors: haley js. J Vasc Surg Venous Lymphat Disord. 2022 Mar;10(2):382-389.e2. doi: 10.1016/j.jvsv.2021.07.007. Epub 2021 Aug 3. J Vasc Surg Venous Lymphat Disord. 2022. PMID: 34358671

6

Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes.

Kim J, Ney G, Frone MN, Haley JS, Mirshahi UL, Astiazaran-Symonds E, Shandrina M, Urban G, Rao HS, Stahl R, Golden A, Yohe ME, Gross AM, Ding Y, Carey DJ, Gelb BD, Stewart DR. Kim J, et al. Among authors: haley js. medRxiv [Preprint]. 2024 Oct 11:2024.10.09.24314324. doi: 10.1101/2024.10.09.24314324. medRxiv. 2024. PMID: 39802765 Free PMC article. Preprint.

7

Increased frequency of CHEK2 germline pathogenic variants among individuals with dermatofibrosarcoma protuberans.

Sargen MR, Kim J, Haley JS, Barker HP, Mundra PA, Ballinger ML, Thomas DM, Carey DJ, Goldstein AM, Stewart DR. Sargen MR, et al. Among authors: haley js. Genet Med Open. 2024 Sep 28;2:101895. doi: 10.1016/j.gimo.2024.101895. eCollection 2024. Genet Med Open. 2024. PMID: 39669616 Free PMC article.

8

A Genome-Wide Association Study and Rare Variant Analysis for Dupuytren Disease in a North American Population.

Grandizio LC, Smelser DT, Haley JS, Delma S, Klena JC, Carey DJ. Grandizio LC, et al. Among authors: haley js. J Hand Surg Am. 2024 Nov 18:S0363-5023(24)00482-9. doi: 10.1016/j.jhsa.2024.10.001. Online ahead of print. J Hand Surg Am. 2024. PMID: 39570219

9

Most Fanconi anemia heterozygotes are not at increased cancer risk: A genome-first DiscovEHR cohort population study.

Deng J, Altintas B, Haley JS, Kim J, Ramos M, Carey DJ, Stewart DR, McReynolds LJ. Deng J, et al. Among authors: haley js. Genet Med. 2024 Mar;26(3):101042. doi: 10.1016/j.gim.2023.101042. Epub 2023 Dec 5. Genet Med. 2024. PMID: 38063144

10

Intronic Germline DICER1 Variants in Patients With Sertoli-Leydig Cell Tumor.

Fraire CR, Mallinger PR, Hatton JN, Kim J, Dickens DS, Argenta PA, Milanovich S, Hartshorne T, Carey DJ, Haley JS, Urban G, Lee J, Hill DA, Stewart DR, Schultz KAP, Chen KS. Fraire CR, et al. Among authors: haley js. JCO Precis Oncol. 2023 Sep;7:e2300189. doi: 10.1200/PO.23.00189. JCO Precis Oncol. 2023. PMID: 37883719 Free PMC article.

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