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

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1978 1
1990 1
1991 1
1994 1
1995 3
1998 1
2009 3
2010 3
2011 3
2012 1
2013 2
2018 6
2019 6
2020 5
2021 8
2022 4
2023 8
2024 10

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

59 results

Results by year

Filters applied: . Clear all
Page 1
Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene.
Ganesh VS, Riquin K, Chatron N, Yoon E, Lamar KM, Aziz MC, Monin P, O'Leary MC, Goodrich JK, Garimella KV, England E, Weisburd B, Aguet F, Bacino CA, Murdock DR, Dai H, Rosenfeld JA, Emrick LT, Ketkar S, Sarusi Y, Sanlaville D, Kayani S, Broadbent B, Pengam A, Isidor B, Bezieau S, Cogné B, MacArthur DG, Ulitsky I, Carvill GL, O'Donnell-Luria A. Ganesh VS, et al. Among authors: o leary mc. N Engl J Med. 2024 Oct 24;391(16):1511-1518. doi: 10.1056/NEJMoa2400718. N Engl J Med. 2024. PMID: 39442041
Paediatric acute hepatitis of unknown aetiology: a national investigation and adenoviraemia case-control study in the UK.
Mandal S, Simmons R, Ireland G, Charlett A, Desai M, Coughlan L, Powell A, Leeman D, Williams C, Neill C, O'Leary MC, Sawyer C, Rowley F, Harris C, Houlihan C, Gordon C, Rampling T, Callaby H, Hoschler K, Cogdale J, Renz E, Sebastianpilli P, Thompson C, Talts T, Celma C, Davies EA, Ahmad S, Machin N, Gifford L, Moore C, Dickson EM, Divala TH, Henderson D, Li K, Broadbent P, Ushiro-Lumb I, Humphreys C, Grammatikopoulos T, Hartley J, Kelgeri C, Rajwal S, Okike I, Kelly DA, Guiver M, Borrow R, Bindra R, Demirjian A, Brown KE, Ladhani SN, Ramsay ME, Bradley DT, Gjini A, Roy K, Chand M, Zambon M, Watson CH. Mandal S, et al. Among authors: o leary mc. Lancet Child Adolesc Health. 2023 Nov;7(11):786-796. doi: 10.1016/S2352-4642(23)00215-8. Epub 2023 Sep 26. Lancet Child Adolesc Health. 2023. PMID: 37774733 Free article.
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Stenton SL, O'Leary MC, Lemire G, VanNoy GE, DiTroia S, Ganesh VS, Groopman E, O'Heir E, Mangilog B, Osei-Owusu I, Pais LS, Serrano J, Singer-Berk M, Weisburd B, Wilson MW, Austin-Tse C, Abdelhakim M, Althagafi A, Babbi G, Bellazzi R, Bovo S, Carta MG, Casadio R, Coenen PJ, De Paoli F, Floris M, Gajapathy M, Hoehndorf R, Jacobsen JOB, Joseph T, Kamandula A, Katsonis P, Kint C, Lichtarge O, Limongelli I, Lu Y, Magni P, Mamidi TKK, Martelli PL, Mulargia M, Nicora G, Nykamp K, Pejaver V, Peng Y, Pham THC, Podda MS, Rao A, Rizzo E, Saipradeep VG, Savojardo C, Schols P, Shen Y, Sivadasan N, Smedley D, Soru D, Srinivasan R, Sun Y, Sunderam U, Tan W, Tiwari N, Wang X, Wang Y, Williams A, Worthey EA, Yin R, You Y, Zeiberg D, Zucca S, Bakolitsa C, Brenner SE, Fullerton SM, Radivojac P, Rehm HL, O'Donnell-Luria A. Stenton SL, et al. Among authors: o leary mc. Hum Genomics. 2024 Apr 29;18(1):44. doi: 10.1186/s40246-024-00604-w. Hum Genomics. 2024. PMID: 38685113 Free PMC article.
Implementation strategies in the Exploration and Preparation phases of a colorectal cancer screening intervention in community health centers.
Ferrari RM, Leeman J, Brenner AT, Correa SY, Malo TL, Moore AA, O'Leary MC, Randolph CM, Ratner S, Frerichs L, Farr D, Crockett SD, Wheeler SB, Lich KH, Beasley E, Hogsed M, Bland A, Richardson C, Newcomer M, Reuland DS. Ferrari RM, et al. Among authors: o leary mc. Implement Sci Commun. 2023 Sep 20;4(1):118. doi: 10.1186/s43058-023-00485-5. Implement Sci Commun. 2023. PMID: 37730659 Free PMC article.
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection.
Negi S, Stenton SL, Berger SI, McNulty B, Violich I, Gardner J, Hillaker T, O'Rourke SM, O'Leary MC, Carbonell E, Austin-Tse C, Lemire G, Serrano J, Mangilog B, VanNoy G, Kolmogorov M, Vilain E, O'Donnell-Luria A, Délot E, Miga KH, Monlong J, Paten B. Negi S, et al. Among authors: o leary mc. medRxiv [Preprint]. 2024 Aug 22:2024.08.22.24312327. doi: 10.1101/2024.08.22.24312327. medRxiv. 2024. PMID: 39228712 Free PMC article. Preprint.
Monozygotic twins discordant for neurofibromatosis 1.
Kaplan L, Foster R, Shen Y, Parry DM, McMaster ML, O'Leary MC, Gusella JF. Kaplan L, et al. Among authors: o leary mc. Am J Med Genet A. 2010 Mar;152A(3):601-6. doi: 10.1002/ajmg.a.33271. Am J Med Genet A. 2010. PMID: 20186797 Free PMC article.
59 results