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

78 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease.
Hidalgo-Gutierrez A, Shintaku J, Ramon J, Barriocanal-Casado E, Pesini A, Saneto RP, Garrabou G, Milisenda JC, Matas-Garcia A, Gort L, Ugarteburu O, Gu Y, Koganti L, Wang T, Tadesse S, Meneri M, Sciacco M, Wang S, Tanji K, Horwitz MS, Dorschner MO, Mansukhani M, Comi GP, Ronchi D, Marti R, Ribes A, Tort F, Hirano M. Hidalgo-Gutierrez A, et al. Among authors: dorschner mo. Ann Neurol. 2024 Dec;96(6):1209-1224. doi: 10.1002/ana.27071. Epub 2024 Sep 4. Ann Neurol. 2024. PMID: 39230499 Free article.
Longitudinal profiling identifies co-occurring BRCA1/2 reversions, TP53BP1, RIF1 and PAXIP1 mutations in PARP inhibitor-resistant advanced breast cancer.
Harvey-Jones E, Raghunandan M, Robbez-Masson L, Magraner-Pardo L, Alaguthurai T, Yablonovitch A, Yen J, Xiao H, Brough R, Frankum J, Song F, Yeung J, Savy T, Gulati A, Alexander J, Kemp H, Starling C, Konde A, Marlow R, Cheang M, Proszek P, Hubank M, Cai M, Trendell J, Lu R, Liccardo R, Ravindran N, Llop-Guevara A, Rodriguez O, Balmana J, Lukashchuk N, Dorschner M, Drusbosky L, Roxanis I, Serra V, Haider S, Pettitt SJ, Lord CJ, Tutt ANJ. Harvey-Jones E, et al. Ann Oncol. 2024 Apr;35(4):364-380. doi: 10.1016/j.annonc.2024.01.003. Epub 2024 Jan 19. Ann Oncol. 2024. PMID: 38244928 Free article.
Risk management actions following genetic testing in the Cancer Health Assessments Reaching Many (CHARM) Study: A prospective cohort study.
Guo B, Knerr S, Kauffman TL, Mittendorf KF, Keast E, Gilmore MJ, Feigelson HS, Lynch FL, Muessig KR, Okuyama S, Zepp JM, Veenstra DL, Hsu L, Phipps AI, Lindström S, Leo MC, Goddard KAB, Wilfond BS, Devine B; CHARM Study team. Guo B, et al. Cancer Med. 2023 Sep;12(18):19112-19125. doi: 10.1002/cam4.6485. Epub 2023 Aug 30. Cancer Med. 2023. PMID: 37644850 Free PMC article.
NOTCH3 C201R variant causes cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) that can be confused with early-onset Alzheimer's disease.
Korvatska O, Bucks SA, Yoda RA, Nolan A, Dorschner MO, Tsuang D, Jayadev S, Raskind WH, Bird TD. Korvatska O, et al. Among authors: dorschner mo. J Neurol Sci. 2023 Sep 15;452:120763. doi: 10.1016/j.jns.2023.120763. Epub 2023 Aug 7. J Neurol Sci. 2023. PMID: 37598468 Free PMC article.
Homozygous CADPS2 Mutations Cause Neurodegenerative Disease with Lewy Body-like Pathology in Parrots.
Lorenzo-Betancor O, Galosi L, Bonfili L, Eleuteri AM, Cecarini V, Verin R, Dini F, Attili AR, Berardi S, Biagini L, Robino P, Stella MC, Yearout D, Dorschner MO, Tsuang DW, Rossi G, Zabetian CP. Lorenzo-Betancor O, et al. Among authors: dorschner mo. Mov Disord. 2022 Dec;37(12):2345-2354. doi: 10.1002/mds.29211. Epub 2022 Sep 10. Mov Disord. 2022. PMID: 36086934 Free PMC article.
An accessible, relational, inclusive, and actionable (ARIA) model of genetic counseling compared with usual care: Results of a randomized controlled trial.
Joseph G, Leo MC, Riddle L, Guerra C, Amendola LM, Gilmore MJ, Rolf BA, Dorschner MO, Zepp J, Biesecker BB, Caruncho M, Hunter JE, Keast E, Lewis HS, Duenas D, Kauffman T, Bulkley JE, Anderson KP, Jarvik GP, Goddard KAB, Wilfond BS; CHARM Study Team. Joseph G, et al. Among authors: dorschner mo. Genet Med. 2022 Nov;24(11):2228-2239. doi: 10.1016/j.gim.2022.07.025. Epub 2022 Sep 2. Genet Med. 2022. PMID: 36053287 Free article. Clinical Trial.
ORCA, a values-based decision aid for selecting additional findings from genomic sequencing in adults: Efficacy results from a randomized trial.
Liles EG, Leo MC, Freed AS, Porter KM, Zepp JM, Kauffman TL, Keast E, McMullen CK, Gruß I, Biesecker BB, Muessig KR, Eubanks DJ, Amendola LM, Dorschner MO, Rolf BA, Jarvik GP, Goddard KAB, Wilfond BS. Liles EG, et al. Among authors: dorschner mo. Genet Med. 2022 Aug;24(8):1664-1674. doi: 10.1016/j.gim.2022.04.008. Epub 2022 May 6. Genet Med. 2022. PMID: 35522237 Free PMC article. Clinical Trial.
Laboratory-related outcomes from integrating an accessible delivery model for hereditary cancer risk assessment and genetic testing in populations with barriers to access.
Amendola LM, Shuster E, Leo MC, Dorschner MO, Rolf BA, Shirts BH, Gilmore MJ, Okuyama S, Zepp JM, Kauffman TL, Mittendorf KF, Bellcross C, Jenkins CL, Joseph G, Riddle L, Syngal S, Ukaegbu C, Goddard KAB, Wilfond BS, Jarvik GP; CHARM Study. Amendola LM, et al. Among authors: dorschner mo. Genet Med. 2022 Jun;24(6):1196-1205. doi: 10.1016/j.gim.2022.02.006. Epub 2022 Mar 16. Genet Med. 2022. PMID: 35305866 Free article.
Safety, Feasibility, and Merits of Longitudinal Molecular Testing of Multiple Metastatic Sites to Inform mTNBC Patient Treatment in the Intensive Trial of Omics in Cancer.
Burton KA, Mahen E, Konnick EQ, Blau S, Dorschner MO, Ramirez AB, Schmechel SC, Song C, Parulkar R, Parker S, Senecal FM, Pritchard CC, Mecham BH, Szeto C, Spilman P, Zhu J, Gadi VK, Ronen R, Stilwell J, Kaldjian E, Dutkowski J, Benz SC, Rabizadeh S, Soon-Shiong P, Blau CA. Burton KA, et al. Among authors: dorschner mo. JCO Precis Oncol. 2022 Mar;6:e2100280. doi: 10.1200/PO.21.00280. JCO Precis Oncol. 2022. PMID: 35294224 Free PMC article. Clinical Trial.
78 results