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

Year Number of Results
1946 2
1954 1
1958 1
1967 1
1973 1
1981 1
1982 1
1983 3
1985 4
1986 1
1987 1
1988 2
1991 2
1992 2
1995 2
1996 3
1997 3
1998 1
1999 2
2000 1
2001 4
2002 6
2003 3
2004 2
2005 7
2006 6
2007 3
2008 4
2009 9
2010 5
2011 5
2012 4
2013 9
2014 9
2015 13
2016 13
2017 16
2018 13
2019 18
2020 28
2021 27
2022 17
2023 20
2024 5

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248 results

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Page 1
Dupilumab in Adults and Adolescents with Eosinophilic Esophagitis.
Dellon ES, Rothenberg ME, Collins MH, Hirano I, Chehade M, Bredenoord AJ, Lucendo AJ, Spergel JM, Aceves S, Sun X, Kosloski MP, Kamal MA, Hamilton JD, Beazley B, McCann E, Patel K, Mannent LP, Laws E, Akinlade B, Amin N, Lim WK, Wipperman MF, Ruddy M, Patel N, Weinreich DR, Yancopoulos GD, Shumel B, Maloney J, Giannelou A, Shabbir A. Dellon ES, et al. Among authors: mccann e. N Engl J Med. 2022 Dec 22;387(25):2317-2330. doi: 10.1056/NEJMoa2205982. N Engl J Med. 2022. PMID: 36546624 Clinical Trial.
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Mattison KA, Tossing G, Mulroe F, Simmons C, Butler KM, Schreiber A, Alsadah A, Neilson DE, Naess K, Wedell A, Wredenberg A, Sorlin A, McCann E, Burghel GJ, Menendez B, Hoganson GE, Botto LD, Filloux FM, Aledo-Serrano Á, Gil-Nagel A, Tatton-Brown K, Verbeek NE, van der Zwaag B, Aleck KA, Fazenbaker AC, Balciuniene J, Dubbs HA, Marsh ED, Garber K, Ek J, Duno M, Hoei-Hansen CE, Deardorff MA, Raca G, Quindipan C, van Hirtum-Das M, Breckpot J, Hammer TB, Møller RS, Whitney A, Douglas AGL, Kharbanda M, Brunetti-Pierri N, Morleo M, Nigro V, May HJ, Tao JX, Argilli E, Sherr EH, Dobyns WB; Genomics England Research Consortium; Baines RA, Warwicker J, Parker JA, Banka S, Campeau PM, Escayg A. Mattison KA, et al. Among authors: mccann e. Brain. 2023 Apr 19;146(4):1357-1372. doi: 10.1093/brain/awac330. Brain. 2023. PMID: 36074901 Free PMC article.
Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia.
Henden L, Fearnley LG, Grima N, McCann EP, Dobson-Stone C, Fitzpatrick L, Friend K, Hobson L, Chan Moi Fat S, Rowe DB, D'Silva S, Kwok JB, Halliday GM, Kiernan MC, Mazumder S, Timmins HC, Zoing M, Pamphlett R, Adams L, Bahlo M, Blair IP, Williams KL. Henden L, et al. Among authors: mccann ep. Sci Adv. 2023 May 5;9(18):eade2044. doi: 10.1126/sciadv.ade2044. Epub 2023 May 5. Sci Adv. 2023. PMID: 37146135 Free PMC article.
Clinical testing panels for ALS: global distribution, consistency, and challenges.
Dilliott AA, Al Nasser A, Elnagheeb M, Fifita J, Henden L, Keseler IM, Lenz S, Marriott H, Mccann E, Mesaros M, Opie-Martin S, Owens E, Palus B, Ross J, Wang Z, White H, Al-Chalabi A, Andersen PM, Benatar M, Blair I, Cooper-Knock J, Harrington EA, Heckmann J, Landers J, Moreno C, Nel M, Rampersaud E, Roggenbuck J, Rouleau G, Traynor B, Van Blitterswijk M, Van Rheenen W, Veldink J, Weishaupt J, Drury L, Harms MB, Farhan SMK; Amyotrophic lateral sclerosis spectrum disorders Gene Curation Expert Panel. Dilliott AA, et al. Among authors: mccann e. Amyotroph Lateral Scler Frontotemporal Degener. 2023 Aug;24(5-6):420-435. doi: 10.1080/21678421.2023.2173015. Epub 2023 Mar 10. Amyotroph Lateral Scler Frontotemporal Degener. 2023. PMID: 36896705 Review.
Efficacy and safety of dupilumab up to 52 weeks in adults and adolescents with eosinophilic oesophagitis (LIBERTY EoE TREET study): a multicentre, double-blind, randomised, placebo-controlled, phase 3 trial.
Rothenberg ME, Dellon ES, Collins MH, Hirano I, Chehade M, Bredenoord AJ, Lucendo AJ, Spergel JM, Sun X, Hamilton JD, Mortensen E, Laws E, Maloney J, Mannent LP, McCann E, Liu X, Glotfelty L, Shabbir A. Rothenberg ME, et al. Among authors: mccann e. Lancet Gastroenterol Hepatol. 2023 Nov;8(11):990-1004. doi: 10.1016/S2468-1253(23)00204-2. Epub 2023 Aug 31. Lancet Gastroenterol Hepatol. 2023. PMID: 37660704
Genomic testing in patients with renal disease.
Lyulcheva-Bennett K, Williams S, Howse M, McCann E. Lyulcheva-Bennett K, et al. Among authors: mccann e. Br J Hosp Med (Lond). 2023 Jul 2;84(7):1-11. doi: 10.12968/hmed.2023.0085. Br J Hosp Med (Lond). 2023. PMID: 37490441 Free article. Review.
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Tolonen JP, Parolin Schnekenberg R, McGowan S, Sims D, McEntagart M, Elmslie F, Shears D, Stewart H, Tofaris GK, Dabir T, Morrison PJ, Johnson D, Hadjivassiliou M, Ellard S, Shaw-Smith C, Znaczko A, Dixit A, Suri M, Sarkar A, Harrison RE, Jones G, Houlden H, Ceravolo G, Jarvis J, Williams J, Shanks ME, Clouston P, Rankin J, Blumkin L, Lerman-Sagie T, Ponger P, Raskin S, Granath K, Uusimaa J, Conti H, McCann E, Joss S, Blakes AJM, Metcalfe K, Kingston H, Bertoli M, Kneen R, Lynch SA, Martínez Albaladejo I, Moore AP, Jones WD; Genomics England Research Consortium; Becker EBE, Németh AH. Tolonen JP, et al. Among authors: mccann e. Mov Disord. 2024 Jan;39(1):141-151. doi: 10.1002/mds.29651. Epub 2023 Nov 14. Mov Disord. 2024. PMID: 37964426 Free PMC article.
Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.
Jain V, Foo SH, Chooi S, Moss C, Goodwin R, Berland S, Clarke AJ, Davies SJ, Corrin S, Murch O, Doyle S, Graham GE, Greenhalgh L, Holder SE, Johnson D, Kumar A, Ladda RL, Sell S, Begtrup A, Lynch SA, McCann E, Østern R, Pottinger C, Splitt M, Fry AE. Jain V, et al. Among authors: mccann e. Eur J Hum Genet. 2023 Dec;31(12):1421-1429. doi: 10.1038/s41431-023-01447-0. Epub 2023 Sep 14. Eur J Hum Genet. 2023. PMID: 37704779 Free PMC article.
The phenotype of Sotos syndrome in adulthood: A review of 44 individuals.
Foster A, Zachariou A, Loveday C, Ashraf T, Blair E, Clayton-Smith J, Dorkins H, Fryer A, Gener B, Goudie D, Henderson A, Irving M, Joss S, Keeley V, Lahiri N, Lynch SA, Mansour S, McCann E, Morton J, Motton N, Murray A, Riches K, Shears D, Stark Z, Thompson E, Vogt J, Wright M, Cole T, Tatton-Brown K. Foster A, et al. Among authors: mccann e. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):502-508. doi: 10.1002/ajmg.c.31738. Epub 2019 Sep 3. Am J Med Genet C Semin Med Genet. 2019. PMID: 31479583 Review.
248 results