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

Year Number of Results
1967 1
1968 4
1969 1
1970 2
1972 1
1973 1
1974 2
1976 2
1977 1
1978 1
1980 1
1981 1
1983 2
1984 1
1985 1
1986 3
1987 1
1988 4
1989 1
1990 3
1991 4
1994 3
1995 3
1996 1
1997 1
1998 1
2000 1
2001 1
2005 2
2006 3
2008 7
2009 5
2010 4
2011 6
2012 8
2013 5
2014 3
2015 5
2016 6
2017 12
2018 5
2019 8
2020 7
2021 12
2022 13
2023 7
2024 15
2025 2

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167 results

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Page 1
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.
Pan X, Tao AM, Lu S, Ma M, Hannan SB, Slaugh R, Drewes Williams S, O'Grady L, Kanca O, Person R, Carter MT, Platzer K, Schnabel F, Abou Jamra R, Roberts AE, Newburger JW, Revah-Politi A, Granadillo JL, Stegmann APA, Sinnema M, Accogli A, Salpietro V, Capra V, Ghaloul-Gonzalez L, Brueckner M, Simon MEH, Sweetser DA, Glinton KE, Kirk SE; Baylor College of Medicine Center for Precision Medicine Models; Wangler MF, Yamamoto S, Chung WK, Bellen HJ. Pan X, et al. Among authors: o grady l. Am J Hum Genet. 2024 Apr 4;111(4):742-760. doi: 10.1016/j.ajhg.2024.02.007. Epub 2024 Mar 12. Am J Hum Genet. 2024. PMID: 38479391 Free PMC article.
How should health be defined?
Jadad AR, O'Grady L. Jadad AR, et al. Among authors: o grady l. BMJ. 2008 Dec 10;337:a2900. doi: 10.1136/bmj.a2900. BMJ. 2008. PMID: 19073663 No abstract available.
In search of health.
Smith R, O'Grady L, Jadad AR. Smith R, et al. Among authors: o grady l. J Eval Clin Pract. 2009 Aug;15(4):743-4. doi: 10.1111/j.1365-2753.2009.01263.x. J Eval Clin Pract. 2009. PMID: 19674228 No abstract available.
Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases.
Torene RI, Guillen Sacoto MJ, Millan F, Zhang Z, McGee S, Oetjens M, Heise E, Chong K, Sidlow R, O'Grady L, Sahai I, Martin CL, Ledbetter DH, Myers SM, Mitchell KJ, Retterer K. Torene RI, et al. Among authors: o grady l. Am J Hum Genet. 2024 Jan 4;111(1):70-81. doi: 10.1016/j.ajhg.2023.11.007. Epub 2023 Dec 12. Am J Hum Genet. 2024. PMID: 38091987 Free PMC article.
Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.
O'Grady L, Schrier Vergano SA, Hoffman TL, Sarco D, Cherny S, Bryant E, Schultz-Rogers L, Chung WK, Sacharow S, Immken LL, Holder S, Blackwell RR, Buchanan C, Yusupov R, Lecoquierre F, Guerrot AM, Rodan L, de Vries BBA, Kamsteeg EJ, Santos Simarro F, Palomares-Bralo M, Brown N, Pais L, Ferrer A, Klee EW, Babovic-Vuksanovic D, Rhodes L, Person R, Begtrup A, Keller-Ramey J, Santiago-Sim T, Schnur RE, Sweetser DA, Gold NB. O'Grady L, et al. Am J Med Genet A. 2022 Sep;188(9):2750-2759. doi: 10.1002/ajmg.a.62772. Epub 2022 May 11. Am J Med Genet A. 2022. PMID: 35543142
A review of paratuberculosis in dairy herds - Part 1: Epidemiology.
McAloon CG, Roche S, Ritter C, Barkema HW, Whyte P, More SJ, O'Grady L, Green MJ, Doherty ML. McAloon CG, et al. Among authors: o grady l. Vet J. 2019 Apr;246:59-65. doi: 10.1016/j.tvjl.2019.01.010. Epub 2019 Jan 30. Vet J. 2019. PMID: 30902190 Review.
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.
Neuser S, Brechmann B, Heimer G, Brösse I, Schubert S, O'Grady L, Zech M, Srivastava S, Sweetser DA, Dincer Y, Mall V, Winkelmann J, Behrends C, Darras BT, Graham RJ, Jayakar P, Byrne B, Bar-Aluma BE, Haberman Y, Szeinberg A, Aldhalaan HM, Hashem M, Al Tenaiji A, Ismayl O, Al Nuaimi AE, Maher K, Ibrahim S, Khan F, Houlden H, Ramakumaran VS, Pagnamenta AT, Posey JE, Lupski JR, Tan WH, ElGhazali G, Herman I, Muñoz T, Repetto GM, Seitz A, Krumbiegel M, Poli MC, Kini U, Efthymiou S, Meiler J, Maroofian R, Alkuraya FS, Abou Jamra R, Popp B, Ben-Zeev B, Ebrahimi-Fakhari D. Neuser S, et al. Among authors: o grady l. Hum Mutat. 2021 Jun;42(6):762-776. doi: 10.1002/humu.24206. Epub 2021 May 11. Hum Mutat. 2021. PMID: 33847017
167 results