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

Year Number of Results
1962 1
1998 1
2003 1
2005 1
2012 1
2013 2
2014 3
2015 2
2016 9
2017 5
2018 1
2019 4
2020 1
2021 1
2022 1
2023 2
2024 0

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29 results

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Page 1
Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease.
Sharma M, Leung D, Momenilandi M, Jones LCW, Pacillo L, James AE, Murrell JR, Delafontaine S, Maimaris J, Vaseghi-Shanjani M, Del Bel KL, Lu HY, Chua GT, Di Cesare S, Fornes O, Liu Z, Di Matteo G, Fu MP, Amodio D, Tam IYS, Chan GSW, Sharma AA, Dalmann J, van der Lee R, Blanchard-Rohner G, Lin S, Philippot Q, Richmond PA, Lee JJ, Matthews A, Seear M, Turvey AK, Philips RL, Brown-Whitehorn TF, Gray CJ, Izumi K, Treat JR, Wood KH, Lack J, Khleborodova A, Niemela JE, Yang X, Liang R, Kui L, Wong CSM, Poon GWK, Hoischen A, van der Made CI, Yang J, Chan KW, Rosa Duque JSD, Lee PPW, Ho MHK, Chung BHY, Le HTM, Yang W, Rohani P, Fouladvand A, Rokni-Zadeh H, Changi-Ashtiani M, Miryounesi M, Puel A, Shahrooei M, Finocchi A, Rossi P, Rivalta B, Cifaldi C, Novelli A, Passarelli C, Arasi S, Bullens D, Sauer K, Claeys T, Biggs CM, Morris EC, Rosenzweig SD, O'Shea JJ, Wasserman WW, Bedford HM, van Karnebeek CDM, Palma P, Burns SO, Meyts I, Casanova JL, Lyons JJ, Parvaneh N, Nguyen ATV, Cancrini C, Heimall J, Ahmed H, McKinnon ML, Lau YL, Béziat V, Turvey SE. Sharma M, et al. Among authors: mckinnon ml. J Exp Med. 2023 May 1;220(5):e20221755. doi: 10.1084/jem.20221755. Epub 2023 Mar 8. J Exp Med. 2023. PMID: 36884218 Free PMC article.
Human JAK1 gain of function causes dysregulated myelopoeisis and severe allergic inflammation.
Biggs CM, Cordeiro-Santanach A, Prykhozhij SV, Deveau AP, Lin Y, Del Bel KL, Orben F, Ragotte RJ, Saferali A, Mostafavi S, Dinh L, Dai D, Weinacht KG, Dobbs K, Ott de Bruin L, Sharma M, Tsai K, Priatel JJ, Schreiber RA, Rozmus J, Hosking MC, Shopsowitz KE, McKinnon ML, Vercauteren S, Seear M, Notarangelo LD, Lynn FC, Berman JN, Turvey SE. Biggs CM, et al. Among authors: mckinnon ml. JCI Insight. 2022 Dec 22;7(24):e150849. doi: 10.1172/jci.insight.150849. JCI Insight. 2022. PMID: 36546480 Free PMC article.
The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency.
Turvey SE, Durandy A, Fischer A, Fung SY, Geha RS, Gewies A, Giese T, Greil J, Keller B, McKinnon ML, Neven B, Rozmus J, Ruland J, Snow AL, Stepensky P, Warnatz K. Turvey SE, et al. Among authors: mckinnon ml. J Allergy Clin Immunol. 2014 Aug;134(2):276-84. doi: 10.1016/j.jaci.2014.06.015. J Allergy Clin Immunol. 2014. PMID: 25087226 Free PMC article. Review.
A case of splenomegaly in CBL syndrome.
Coe RR, McKinnon ML, Tarailo-Graovac M, Ross CJ, Wasserman WW, Friedman JM, Rogers PC, van Karnebeek CDM. Coe RR, et al. Among authors: mckinnon ml. Eur J Med Genet. 2017 Jul;60(7):374-379. doi: 10.1016/j.ejmg.2017.04.009. Epub 2017 Apr 13. Eur J Med Genet. 2017. PMID: 28414188
Atypical cerebral palsy: genomics analysis enables precision medicine.
Matthews AM, Blydt-Hansen I, Al-Jabri B, Andersen J, Tarailo-Graovac M, Price M, Selby K, Demos M, Connolly M, Drögemoller B, Shyr C, Mwenifumbo J, Elliott AM, Lee J, Ghani A, Stöckler S, Salvarinova R, Vallance H, Sinclair G, Ross CJ, Wasserman WW, McKinnon ML, Horvath GA, Goez H, van Karnebeek CD; TIDE BC, United for Metabolic Diseases and the CAUSES Study. Matthews AM, et al. Among authors: mckinnon ml. Genet Med. 2019 Jul;21(7):1621-1628. doi: 10.1038/s41436-018-0376-y. Epub 2018 Dec 13. Genet Med. 2019. PMID: 30542205 Free article.
Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.
Brodehl A, Ferrier RA, Hamilton SJ, Greenway SC, Brundler MA, Yu W, Gibson WT, McKinnon ML, McGillivray B, Alvarez N, Giuffre M, Schwartzentruber J; FORGE Canada Consortium; Gerull B. Brodehl A, et al. Among authors: mckinnon ml. Hum Mutat. 2016 Mar;37(3):269-79. doi: 10.1002/humu.22942. Epub 2016 Jan 8. Hum Mutat. 2016. PMID: 26666891
Combined immunodeficiency associated with homozygous MALT1 mutations.
McKinnon ML, Rozmus J, Fung SY, Hirschfeld AF, Del Bel KL, Thomas L, Marr N, Martin SD, Marwaha AK, Priatel JJ, Tan R, Senger C, Tsang A, Prendiville J, Junker AK, Seear M, Schultz KR, Sly LM, Holt RA, Patel MS, Friedman JM, Turvey SE. McKinnon ML, et al. J Allergy Clin Immunol. 2014 May;133(5):1458-62, 1462.e1-7. doi: 10.1016/j.jaci.2013.10.045. Epub 2013 Dec 12. J Allergy Clin Immunol. 2014. PMID: 24332264 Clinical Trial. No abstract available.
Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CA.
Davis S, Ware MA, Zeiger J, Deardorff MA, Grand K, Grimberg A, Hsu S, Kelsey M, Majidi S, Matthew RP, Napier M, Nokoff N, Prasad C, Riggs AC, McKinnon ML, Mirzaa G. Davis S, et al. Among authors: mckinnon ml. Am J Med Genet A. 2020 Jan;182(1):162-168. doi: 10.1002/ajmg.a.61403. Epub 2019 Nov 15. Am J Med Genet A. 2020. PMID: 31729162 Free PMC article.
29 results