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279 results

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Page 1
Genomic ascertainment of CHEK2-related cancer predisposition.
Kim SY, Kim J, Ramos M, Haley J, Smelser D, Rao HS, Mirshahi UL; Geisinger-Regeneron DiscovEHR Collaboration; Graubard BI, Katki HA, Carey D, Stewart DR. Kim SY, et al. Among authors: stewart dr. medRxiv [Preprint]. 2024 Aug 8:2024.08.07.24311613. doi: 10.1101/2024.08.07.24311613. medRxiv. 2024. PMID: 39371170 Free PMC article. Preprint.
Genome-first approach of the prevalence and cancer phenotypes of pathogenic or likely pathogenic germline TP53 variants.
de Andrade KC, Strande NT, Kim J, Haley JS, Hatton JN, Frone MN, Khincha PP, Thone GM, Mirshahi UL, Schneider C, Desai H, Dove JT, Smelser DT; Penn Medicine BioBank; Regeneron Genetics Center; Levine AJ, Maxwell KN, Stewart DR, Carey DJ, Savage SA. de Andrade KC, et al. Among authors: stewart dr. HGG Adv. 2024 Jan 11;5(1):100242. doi: 10.1016/j.xhgg.2023.100242. Epub 2023 Sep 29. HGG Adv. 2024. PMID: 37777824 Free PMC article.
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: stewart dr. medRxiv [Preprint]. 2024 Oct 11:2024.10.09.24314324. doi: 10.1101/2024.10.09.24314324. medRxiv. 2024. PMID: 39802765 Free PMC article. Preprint.
Management of individuals with heterozygous germline pathogenic variants in ATM: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Pal T, Schon KR, Astiazaran-Symonds E, Balmaña J, Foulkes WD, James P, Klugman S, Livinski AA, Mak JS, Ngeow J, Voian N, Wick MJ, Hanson H, Stewart DR, Tischkowitz M; ACMG Professional Practice and Guidelines Committee. Electronic address: documents@acmg.net. Pal T, et al. Among authors: stewart dr. Genet Med. 2025 Jan;27(1):101243. doi: 10.1016/j.gim.2024.101243. Epub 2024 Dec 5. Genet Med. 2025. PMID: 39636577
Update on cancer screening in children with syndromes of bone lesions, hereditary leiomyoma and renal cell carcinoma syndrome, and other rare syndromes.
Michaeli O, Kim SY, Mitchell SG, Jongmans MCJ, Wasserman JD, Perrino MR, Das A, MacFarland SP, Scollon SR, Greer MC, Sobreira N, Gallinger B, Lupo PJ, Malkin D, Schneider KW, Schultz KAP, Foulkes WD, Woodward ER, Stewart DR. Michaeli O, et al. Among authors: stewart dr. Clin Cancer Res. 2024 Nov 27. doi: 10.1158/1078-0432.CCR-24-2171. Online ahead of print. Clin Cancer Res. 2024. PMID: 39601780
Update on Pediatric Surveillance Recommendations for PTEN Hamartoma Tumor Syndrome, DICER1-Related Tumor Predisposition, and Tuberous Sclerosis Complex.
Schultz KAP, MacFarland SP, Perrino MR, Mitchell SG, Kamihara J, Nelson AT, Mallinger PHR, Brzezinski JJ, Maxwell KN, Woodward ER, Gallinger B, Kim SY, Greer MC, Schneider KW, Scollon SR, Das A, Wasserman JD, Eng C, Malkin D, Foulkes WD, Michaeli O, Bauer AJ, Stewart DR. Schultz KAP, et al. Among authors: stewart dr. Clin Cancer Res. 2024 Nov 14. doi: 10.1158/1078-0432.CCR-24-1947. Online ahead of print. Clin Cancer Res. 2024. PMID: 39540884
Hearing Science Accelerator: Sudden Sensorineural Hearing Loss-Executive Summary of Research Initiatives.
Slattery WH 3rd, Andalibi A, Angeli S, Babu S, Bolt K, Britt W, Buckey JC Jr, Butman J, Chandrasekhar S, Fernandez K, Haynes D, Hertzano R, Hirose K, Hoa M, Hodge S, Howard M, Lalwani A, Liotta L, Luchini A, de Oliveira Penido N, Parham K, Plontke S, Quesnel A, Rauch SD, Saunders J, Schlingensiepen R, Schwartz S, Stewart DR, Vambutas A, Westerberg B, Andresen N. Slattery WH 3rd, et al. Among authors: stewart dr. Otol Neurotol. 2024 Dec 1;45(10):e670-e678. doi: 10.1097/MAO.0000000000004341. Epub 2024 Oct 28. Otol Neurotol. 2024. PMID: 39473327 No abstract available.
279 results