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Year Number of Results
2015 2
2016 6
2017 2
2018 7
2019 1
2020 3
2022 1
2023 1
2024 0

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20 results

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Page 1
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.
Logan CV, Murray JE, Parry DA, Robertson A, Bellelli R, Tarnauskaitė Ž, Challis R, Cleal L, Borel V, Fluteau A, Santoyo-Lopez J; SGP Consortium; Aitman T, Barroso I, Basel D, Bicknell LS, Goel H, Hu H, Huff C, Hutchison M, Joyce C, Knox R, Lacroix AE, Langlois S, McCandless S, McCarrier J, Metcalfe KA, Morrissey R, Murphy N, Netchine I, O'Connell SM, Olney AH, Paria N, Rosenfeld JA, Sherlock M, Syverson E, White PC, Wise C, Yu Y, Zacharin M, Banerjee I, Reijns M, Bober MB, Semple RK, Boulton SJ, Rios JJ, Jackson AP. Logan CV, et al. Am J Hum Genet. 2018 Dec 6;103(6):1038-1044. doi: 10.1016/j.ajhg.2018.10.024. Epub 2018 Nov 29. Am J Hum Genet. 2018. PMID: 30503519 Free PMC article.
Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta.
Weerakkody R, Ross D, Parry DA, Ziganshin B, Vandrovcova J, Gampawar P, Abdullah A, Biggs J, Dumfarth J, Ibrahim Y; Yale Aortic Institute Data and Repository Team; Bicknell C, Field M, Elefteriades J, Cheshire N, Aitman TJ. Weerakkody R, et al. Genet Med. 2018 Nov;20(11):1414-1422. doi: 10.1038/gim.2018.27. Epub 2018 Mar 15. Genet Med. 2018. PMID: 29543232 Free PMC article.
Cross-species models of human melanoma.
van der Weyden L, Patton EE, Wood GA, Foote AK, Brenn T, Arends MJ, Adams DJ. van der Weyden L, et al. J Pathol. 2016 Jan;238(2):152-65. doi: 10.1002/path.4632. Epub 2015 Oct 9. J Pathol. 2016. PMID: 26354726 Free PMC article. Review.
C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca2+-permeable AMPA receptor-mediated excitotoxicity.
Selvaraj BT, Livesey MR, Zhao C, Gregory JM, James OT, Cleary EM, Chouhan AK, Gane AB, Perkins EM, Dando O, Lillico SG, Lee YB, Nishimura AL, Poreci U, Thankamony S, Pray M, Vasistha NA, Magnani D, Borooah S, Burr K, Story D, McCampbell A, Shaw CE, Kind PC, Aitman TJ, Whitelaw CBA, Wilmut I, Smith C, Miles GB, Hardingham GE, Wyllie DJA, Chandran S. Selvaraj BT, et al. Nat Commun. 2018 Jan 24;9(1):347. doi: 10.1038/s41467-017-02729-0. Nat Commun. 2018. PMID: 29367641 Free PMC article.
De novo mutations in autosomal recessive congenital malformations.
Black HA, Parry D, Atanur SS, Ross D, Rose E, Russell H, Stock S, Warner J, Porteous M, Aitman TJ, Evans MJ. Black HA, et al. Genet Med. 2016 Dec;18(12):1325-1326. doi: 10.1038/gim.2016.62. Epub 2016 Jun 9. Genet Med. 2016. PMID: 27280866 Free PMC article. No abstract available.
Familial Adrenocortical Carcinoma in Association With Lynch Syndrome.
Challis BG, Kandasamy N, Powlson AS, Koulouri O, Annamalai AK, Happerfield L, Marker AJ, Arends MJ, Nik-Zainal S, Gurnell M. Challis BG, et al. J Clin Endocrinol Metab. 2016 Jun;101(6):2269-72. doi: 10.1210/jc.2016-1460. Epub 2016 May 4. J Clin Endocrinol Metab. 2016. PMID: 27144940 Free PMC article.
Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome.
Weerakkody RA, Vandrovcova J, Kanonidou C, Mueller M, Gampawar P, Ibrahim Y, Norsworthy P, Biggs J, Abdullah A, Ross D, Black HA, Ferguson D, Cheshire NJ, Kazkaz H, Grahame R, Ghali N, Vandersteen A, Pope FM, Aitman TJ. Weerakkody RA, et al. Genet Med. 2016 Nov;18(11):1119-1127. doi: 10.1038/gim.2016.14. Epub 2016 Mar 24. Genet Med. 2016. PMID: 27011056 Free article.
20 results