Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

300 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Extending the new era of genomic testing into pregnancy management: A proposed model for Australian prenatal services.
Rogers A, De Jong L, Waters W, Rawlings LH, Simons K, Gao S, Soubrier J, Kenyon R, Lin M, King R, Lawrence DM, Muller P, Leblanc S, McGregor L, Sallevelt SCEH, Liebelt J, Hardy TSE, Fletcher JM, Scott HS, Kulkarni A, Barnett CP, Kassahn KS. Rogers A, et al. Among authors: scott hs. Aust N Z J Obstet Gynaecol. 2024 Oct;64(5):467-474. doi: 10.1111/ajo.13814. Epub 2024 Apr 5. Aust N Z J Obstet Gynaecol. 2024. PMID: 38577897 Free PMC article.
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets.
Weisburd B, Sharma R, Pata V, Reimand T, Ganesh VS, Austin-Tse C, Osei-Owusu I, O'Heir E, O'Leary M, Pais L, Stafki SA, Daugherty AL, Folland C, Peric S, Fahmy N, Udd B, Horáková M, Łusakowska A, Manoj R, Nalini A, Karcagi V, Polavarapu K, Lochmüller H, Horvath R, Bönnemann CG, Donkervoort S, Haliloğlu G, Herguner O, Kang PB, Ravenscroft G, Laing N, Scott HS, Töpf A, Straub V, Pajusalu S, Õunap K, Tiao G, Rehm HL, O'Donnell-Luria A. Weisburd B, et al. Among authors: scott hs. Genet Med. 2025 Apr;27(4):101336. doi: 10.1016/j.gim.2024.101336. Epub 2024 Dec 9. Genet Med. 2025. PMID: 39670433
Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications.
Sullivan PJ, Gayevskiy V, Davis RL, Wong M, Mayoh C, Mallawaarachchi A, Hort Y, McCabe MJ, Beecroft S, Jackson MR, Arts P, Dubowsky A, Laing N, Dinger ME, Scott HS, Oates E, Pinese M, Cowley MJ. Sullivan PJ, et al. Among authors: scott hs. Genome Biol. 2023 May 17;24(1):118. doi: 10.1186/s13059-023-02936-7. Genome Biol. 2023. PMID: 37198692 Free PMC article.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
van der Sluijs PJ, Joosten M, Alby C, Attié-Bitach T, Gilmore K, Dubourg C, Fradin M, Wang T, Kurtz-Nelson EC, Ahlers KP, Arts P, Barnett CP, Ashfaq M, Baban A, van den Born M, Borrie S, Busa T, Byrne A, Carriero M, Cesario C, Chong K, Cueto-González AM, Dempsey JC, Diderich KEM, Doherty D, Farholt S, Gerkes EH, Gorokhova S, Govaerts LCP, Gregersen PA, Hickey SE, Lefebvre M, Mari F, Martinovic J, Northrup H, O'Leary M, Parbhoo K, Patrier S, Popp B, Santos-Simarro F, Stoltenburg C, Thauvin-Robinet C, Thompson E, Vulto-van Silfhout AT, Zahir FR, Scott HS, Earl RK, Eichler EE, Vora NL, Wilnai Y, Giordano JL, Wapner RJ, Rosenfeld JA, Haak MC, Santen GWE. van der Sluijs PJ, et al. Among authors: scott hs. Genet Med. 2023 Feb;25(2):100004. doi: 10.1016/j.gim.2022.100004. Genet Med. 2023. PMID: 36745127 Free PMC article. No abstract available.
Another Fanconi anemia gene joins the club.
Homan CC, Scott HS, Venugopal P. Homan CC, et al. Among authors: scott hs. J Clin Invest. 2025 Jun 2;135(11):e192382. doi: 10.1172/JCI192382. eCollection 2025 Jun 2. J Clin Invest. 2025. PMID: 40454474 Free PMC article.
RAS Mutation Identifies a Poor Prognostic Molecular Subtype of Therapy-Related Myeloid Neoplasm.
Kok CH, Al-Kali A, Thomas D, He R, Kutyna MM, Alkhateeb HB, Lim K, Saliba AN, Toop C, Matin A, Scott HS, Gangat N, Brown AL, Mangaonkar AA, Hahn CN, Begna K, Hung K, Greipp PT, Hogan WJ, Patnaik MM, Shah MV, Hiwase DK. Kok CH, et al. Among authors: scott hs. Blood Adv. 2025 May 22:bloodadvances.2025016374. doi: 10.1182/bloodadvances.2025016374. Online ahead of print. Blood Adv. 2025. PMID: 40402688 No abstract available.
Validation of the 5th edition of the World Health Organization and International Consensus Classification guidelines for TP53-mutated myeloid neoplasm in an independent international cohort.
Shah MV, Hung K, Baranwal A, Wechalekar G, Al-Kali A, Toop CR, Greipp P, Kutyna MM, Matin A, Ladon D, Saliba A, Chen D, Begna K, Brown A, Rud D, Litzow MR, Hogan WJ, Bardy P, Badar T, Kumar S, Yeung DT, Patnaik MM, Foran JM, He R, Gangat N, Hefazi M, Scott HS, Arana Yi CY, Alkhateeb H, Mangaonkar AA, Thomas D, Hahn CN, Orazi A, Arber DA, Kok CH, Tefferi A, Hiwase D. Shah MV, et al. Among authors: scott hs. Blood Cancer J. 2025 May 7;15(1):88. doi: 10.1038/s41408-025-01290-0. Blood Cancer J. 2025. PMID: 40335478 Free PMC article.
TRanscriptome ANalysis of StratifiEd CohorTs (TRANSECT) enables automated assessment of global gene regulation linked to disparate expression in user defined genes and gene sets.
Toubia J, Kusay Y, Maqsood M, Warnock NI, Lawrence DM, Bracken CP, Gregory PA, Kan WL, Selth LA, Conn SJ, Lopez AF, Branford S, Scott HS, Kok CH, Goodall GJ, Schreiber AW. Toubia J, et al. Among authors: scott hs. NAR Genom Bioinform. 2025 Apr 12;7(2):lqaf041. doi: 10.1093/nargab/lqaf041. eCollection 2025 Jun. NAR Genom Bioinform. 2025. PMID: 40225790 Free PMC article.
300 results