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Page 1
Variants associated with HHIP expression have sex-differential effects on lung function.
Fawcett KA, Obeidat M, Melbourne C, Shrine N, Guyatt AL, John C, Luan J, Richmond A, Moksnes MR, Granell R, Weiss S, Imboden M, May-Wilson S, Hysi P, Boutin TS, Portas L, Flexeder C, Harris SE, Wang CA, Lyytikäinen LP, Palviainen T, Foong RE, Keidel D, Minelli C, Langenberg C, Bossé Y, Van den Berge M, Sin DD, Hao K, Campbell A, Porteous D, Padmanabhan S, Smith BH, Evans DM, Ring S, Langhammer A, Hveem K, Willer C, Ewert R, Stubbe B, Pirastu N, Klaric L, Joshi PK, Patasova K, Massimo M, Polasek O, Starr JM, Karrasch S, Strauch K, Meitinger T, Rudan I, Rantanen T, Pietiläinen K, Kähönen M, Raitakari OT, Hall GL, Sly PD, Pennell CE, Kaprio J, Lehtimäki T, Vitart V, Deary IJ, Jarvis D, Wilson JF, Spector T, Probst-Hensch N, Wareham NJ, Völzke H, Henderson J, Strachan DP, Brumpton BM, Hayward C, Hall IP, Tobin MD, Wain LV. Fawcett KA, et al. Among authors: massimo m. Wellcome Open Res. 2021 May 24;5:111. doi: 10.12688/wellcomeopenres.15846.2. eCollection 2020. Wellcome Open Res. 2021. PMID: 33728380 Free PMC article.
Whole-genome sequence-based analysis of thyroid function.
Taylor PN, Porcu E, Chew S, Campbell PJ, Traglia M, Brown SJ, Mullin BH, Shihab HA, Min J, Walter K, Memari Y, Huang J, Barnes MR, Beilby JP, Charoen P, Danecek P, Dudbridge F, Forgetta V, Greenwood C, Grundberg E, Johnson AD, Hui J, Lim EM, McCarthy S, Muddyman D, Panicker V, Perry JR, Bell JT, Yuan W, Relton C, Gaunt T, Schlessinger D, Abecasis G, Cucca F, Surdulescu GL, Woltersdorf W, Zeggini E, Zheng HF, Toniolo D, Dayan CM, Naitza S, Walsh JP, Spector T, Davey Smith G, Durbin R, Richards JB, Sanna S, Soranzo N, Timpson NJ, Wilson SG; UK0K Consortium. Taylor PN, et al. Nat Commun. 2015 Mar 6;6:5681. doi: 10.1038/ncomms6681. Nat Commun. 2015. PMID: 25743335 Free PMC article.
A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans.
Timpson NJ, Walter K, Min JL, Tachmazidou I, Malerba G, Shin SY, Chen L, Futema M, Southam L, Iotchkova V, Cocca M, Huang J, Memari Y, McCarthy S, Danecek P, Muddyman D, Mangino M, Menni C, Perry JR, Ring SM, Gaye A, Dedoussis G, Farmaki AE, Burton P, Talmud PJ, Gambaro G, Spector TD, Smith GD, Durbin R, Richards JB, Humphries SE, Zeggini E, Soranzo N; UK1OK Consortium Members; UK1OK Consortium Members. Timpson NJ, et al. Nat Commun. 2014 Sep 16;5:4871. doi: 10.1038/ncomms5871. Nat Commun. 2014. PMID: 25225788 Free PMC article.
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource; Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA. Gorman KM, et al. Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982612 Free PMC article.
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.
Schmidts M, Hou Y, Cortés CR, Mans DA, Huber C, Boldt K, Patel M, van Reeuwijk J, Plaza JM, van Beersum SE, Yap ZM, Letteboer SJ, Taylor SP, Herridge W, Johnson CA, Scambler PJ, Ueffing M, Kayserili H, Krakow D, King SM; UK10K; Beales PL, Al-Gazali L, Wicking C, Cormier-Daire V, Roepman R, Mitchison HM, Witman GB. Schmidts M, et al. Nat Commun. 2015 Jun 5;6:7074. doi: 10.1038/ncomms8074. Nat Commun. 2015. PMID: 26044572 Free PMC article.
Transcatheter Aortic Valve Replacement in Low Surgical Risk Patients: An Updated Metanalysis of Extended Follow-Up Randomized Controlled Trials.
Pietro GD, Improta R, De Filippo O, Bruno F, Birtolo LI, Tocci M, Fabris T, Saade W, Colantonio R, Celli P, Sardella G, Esposito G, Tarantini G, Massimo M, D'Ascenzo F. Pietro GD, et al. Among authors: massimo m. Am J Cardiol. 2024 May 8:S0002-9149(24)00358-8. doi: 10.1016/j.amjcard.2024.05.005. Online ahead of print. Am J Cardiol. 2024. PMID: 38729335
In preprints: shaping the developing human brain.
Massimo M, Long KR. Massimo M, et al. Development. 2023 Dec 15;150(24):dev202567. doi: 10.1242/dev.202567. Epub 2023 Dec 11. Development. 2023. PMID: 38078654 No abstract available.
Outcome after chimeric antigen receptor (CAR) T-cell therapy failure in large B-cell lymphomas.
Dodero A, Bramanti S, Di Trani M, Pennisi M, Ljevar S, Chiappella A, Massimo M, Guidetti A, Corrado F, Nierychlewska PM, Di Rocco A, Lorenzini D, Daoud R, De Philippis C, Santoro A, Carlo-Stella C, Corradini P. Dodero A, et al. Among authors: massimo m. Br J Haematol. 2024 Jan;204(1):151-159. doi: 10.1111/bjh.19057. Epub 2023 Sep 10. Br J Haematol. 2024. PMID: 37690811 Free article.
48 results