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

Year Number of Results
1935 1
1952 1
1964 1
1965 1
1967 1
1968 1
1970 1
1972 1
1973 1
1974 2
1975 2
1978 1
1979 3
1980 2
1982 1
1983 1
1984 3
1985 1
1986 1
1987 3
1988 2
1989 4
1990 2
1991 1
1992 2
1993 1
1994 1
1995 1
1996 1
1997 3
1998 2
2000 1
2001 4
2002 1
2003 5
2004 3
2005 6
2006 8
2007 7
2008 9
2009 6
2010 2
2011 7
2012 7
2013 11
2014 15
2015 13
2016 15
2017 12
2018 29
2019 41
2020 31
2021 32
2022 20
2023 20
2024 14

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313 results

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Page 1
IRF2BPL Is Associated with Neurological Phenotypes.
Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM Jr, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K; Program for Undiagnosed Diseases (UD-PrOZA); Undiagnosed Diseases Network; Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM. Marcogliese PC, et al. Am J Hum Genet. 2018 Aug 2;103(2):245-260. doi: 10.1016/j.ajhg.2018.07.006. Epub 2018 Jul 26. Am J Hum Genet. 2018. PMID: 30057031 Free PMC article.
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O'Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P; Undiagnosed Diseases Network; Rush E, Pitt GS, Au PYB, Shashi V. Rodan LH, et al. Genet Med. 2021 Oct;23(10):1922-1932. doi: 10.1038/s41436-021-01232-8. Epub 2021 Jun 23. Genet Med. 2021. PMID: 34163037 Free PMC article.
Coronary CT Angiography and 5-Year Risk of Myocardial Infarction.
SCOT-HEART Investigators; Newby DE, Adamson PD, Berry C, Boon NA, Dweck MR, Flather M, Forbes J, Hunter A, Lewis S, MacLean S, Mills NL, Norrie J, Roditi G, Shah ASV, Timmis AD, van Beek EJR, Williams MC. SCOT-HEART Investigators, et al. N Engl J Med. 2018 Sep 6;379(10):924-933. doi: 10.1056/NEJMoa1805971. Epub 2018 Aug 25. N Engl J Med. 2018. PMID: 30145934 Free article. Clinical Trial.
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
Frésard L, Smail C, Ferraro NM, Teran NA, Li X, Smith KS, Bonner D, Kernohan KD, Marwaha S, Zappala Z, Balliu B, Davis JR, Liu B, Prybol CJ, Kohler JN, Zastrow DB, Reuter CM, Fisk DG, Grove ME, Davidson JM, Hartley T, Joshi R, Strober BJ, Utiramerur S; Undiagnosed Diseases Network; Care4Rare Canada Consortium; Lind L, Ingelsson E, Battle A, Bejerano G, Bernstein JA, Ashley EA, Boycott KM, Merker JD, Wheeler MT, Montgomery SB. Frésard L, et al. Nat Med. 2019 Jun;25(6):911-919. doi: 10.1038/s41591-019-0457-8. Epub 2019 Jun 3. Nat Med. 2019. PMID: 31160820 Free PMC article.
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
Rare T-Cell Subtypes.
van der Weyden C, McCormack C, Lade S, Johnstone RW, Prince HM. van der Weyden C, et al. Among authors: mccormack c. Cancer Treat Res. 2019;176:195-224. doi: 10.1007/978-3-319-99716-2_10. Cancer Treat Res. 2019. PMID: 30596220
Neurobiology of maternal mental illness.
Maguire J, McCormack C, Mitchell A, Monk C. Maguire J, et al. Among authors: mccormack c. Handb Clin Neurol. 2020;171:97-116. doi: 10.1016/B978-0-444-64239-4.00005-9. Handb Clin Neurol. 2020. PMID: 32736761 Review.
Is There an Inflammatory Profile of Perinatal Depression?
McCormack C, Abuaish S, Monk C. McCormack C, et al. Curr Psychiatry Rep. 2023 Apr;25(4):149-164. doi: 10.1007/s11920-023-01414-y. Epub 2023 Mar 22. Curr Psychiatry Rep. 2023. PMID: 36947355 Review.
Simulating domain architecture evolution.
Cui X, Xue Y, McCormack C, Garces A, Rachman TW, Yi Y, Stolzer M, Durand D. Cui X, et al. Among authors: mccormack c. Bioinformatics. 2022 Jun 24;38(Suppl 1):i134-i142. doi: 10.1093/bioinformatics/btac242. Bioinformatics. 2022. PMID: 35758772 Free PMC article.
Immune-Metabolic Interactions and T Cell Tolerance in Pregnancy.
Moldenhauer LM, Hull ML, Foyle KL, McCormack CD, Robertson SA. Moldenhauer LM, et al. Among authors: mccormack cd. J Immunol. 2022 Oct 15;209(8):1426-1436. doi: 10.4049/jimmunol.2200362. J Immunol. 2022. PMID: 36192117 Review.
313 results