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Page 1
Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.
McInerney-Leo AM, Harris JE, Gattas M, Peach EE, Sinnott S, Dudding-Byth T, Rajagopalan S, Barnett CP, Anderson LK, Wheeler L, Brown MA, Leo PJ, Wicking C, Duncan EL. McInerney-Leo AM, et al. Among authors: wheeler l. Hum Mutat. 2016 Jul;37(7):695-702. doi: 10.1002/humu.22994. Epub 2016 May 6. Hum Mutat. 2016. PMID: 27038415
Compound heterozygous mutations in FBN1 in a large family with Marfan syndrome.
McInerney-Leo AM, West J, Wheeler L, Leo PJ, Summers KM, Anderson L, Brown MA, West M, Duncan EL. McInerney-Leo AM, et al. Among authors: wheeler l. Mol Genet Genomic Med. 2020 Mar;8(3):e1116. doi: 10.1002/mgg3.1116. Epub 2020 Jan 16. Mol Genet Genomic Med. 2020. PMID: 31950671 Free PMC article.
Germline ERBB3 mutation in familial non-small-cell lung carcinoma: expanding ErbB's role in oncogenesis.
McInerney-Leo AM, Chew HY, Inglis PL, Leo PJ, Joseph SR, Cooper CL, Okano S, Hassall T, Anderson LK, Bowman RV, Gattas M, Harris JE, Marshall MS, Shaw JG, Wheeler L, Yang IA, Brown MA, Fong KM, Simpson F, Duncan EL. McInerney-Leo AM, et al. Among authors: wheeler l. Hum Mol Genet. 2021 Nov 30;30(24):2393-2401. doi: 10.1093/hmg/ddab172. Hum Mol Genet. 2021. PMID: 34274969 Free PMC article.
A Rare Mutation in SMAD9 Associated With High Bone Mass Identifies the SMAD-Dependent BMP Signaling Pathway as a Potential Anabolic Target for Osteoporosis.
Gregson CL, Bergen DJM, Leo P, Sessions RB, Wheeler L, Hartley A, Youlten S, Croucher PI, McInerney-Leo AM, Fraser W, Tang JC, Anderson L, Marshall M, Sergot L, Paternoster L, Davey Smith G; AOGC Consortium; Brown MA, Hammond C, Kemp JP, Tobias JH, Duncan EL. Gregson CL, et al. Among authors: wheeler l. J Bone Miner Res. 2020 Jan;35(1):92-105. doi: 10.1002/jbmr.3875. Epub 2019 Nov 14. J Bone Miner Res. 2020. PMID: 31525280 Free PMC article.
Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese.
Gratten J, Zhao Q, Benyamin B, Garton F, He J, Leo PJ, Mangelsdorf M, Anderson L, Zhang ZH, Chen L, Chen XD, Cremin K, Deng HW, Edson J, Han YY, Harris J, Henders AK, Jin ZB, Li Z, Lin Y, Liu X, Marshall M, Mowry BJ, Ran S, Reutens DC, Song S, Tan LJ, Tang L, Wallace RH, Wheeler L, Wu J, Yang J, Xu H, Visscher PM, Bartlett PF, Brown MA, Wray NR, Fan D. Gratten J, et al. Among authors: wheeler l. Genome Med. 2017 Nov 17;9(1):97. doi: 10.1186/s13073-017-0487-0. Genome Med. 2017. PMID: 29149916 Free PMC article.
Mutations in Known Monogenic High Bone Mass Loci Only Explain a Small Proportion of High Bone Mass Cases.
Gregson CL, Wheeler L, Hardcastle SA, Appleton LH, Addison KA, Brugmans M, Clark GR, Ward KA, Paggiosi M, Stone M, Thomas J, Agarwal R, Poole KE, McCloskey E, Fraser WD, Williams E, Bullock AN, Davey Smith G, Brown MA, Tobias JH, Duncan EL. Gregson CL, et al. Among authors: wheeler l. J Bone Miner Res. 2016 Mar;31(3):640-9. doi: 10.1002/jbmr.2706. Epub 2015 Oct 6. J Bone Miner Res. 2016. PMID: 26348019 Free PMC article.
Genome-wide association study in Turkish and Iranian populations identify rare familial Mediterranean fever gene (MEFV) polymorphisms associated with ankylosing spondylitis.
Li Z, Akar S, Yarkan H, Lee SK, Çetin P, Can G, Kenar G, Çapa F, Pamuk ON, Pehlivan Y, Cremin K, De Guzman E, Harris J, Wheeler L, Jamshidi A, Vojdanian M, Farhadi E, Ahmadzadeh N, Yüce Z, Dalkılıç E, Solmaz D, Akın B, Dönmez S, Sarı İ, Leo PJ, Kenna TJ, Önen F, Mahmoudi M, Brown MA, Akkoc N. Li Z, et al. Among authors: wheeler l. PLoS Genet. 2019 Apr 4;15(4):e1008038. doi: 10.1371/journal.pgen.1008038. eCollection 2019 Apr. PLoS Genet. 2019. PMID: 30946743 Free PMC article.
Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis.
Benyamin B, He J, Zhao Q, Gratten J, Garton F, Leo PJ, Liu Z, Mangelsdorf M, Al-Chalabi A, Anderson L, Butler TJ, Chen L, Chen XD, Cremin K, Deng HW, Devine M, Edson J, Fifita JA, Furlong S, Han YY, Harris J, Henders AK, Jeffree RL, Jin ZB, Li Z, Li T, Li M, Lin Y, Liu X, Marshall M, McCann EP, Mowry BJ, Ngo ST, Pamphlett R, Ran S, Reutens DC, Rowe DB, Sachdev P, Shah S, Song S, Tan LJ, Tang L, van den Berg LH, van Rheenen W, Veldink JH, Wallace RH, Wheeler L, Williams KL, Wu J, Wu X, Yang J, Yue W, Zhang ZH, Zhang D, Noakes PG, Blair IP, Henderson RD, McCombe PA, Visscher PM, Xu H, Bartlett PF, Brown MA, Wray NR, Fan D. Benyamin B, et al. Among authors: wheeler l. Nat Commun. 2017 Sep 20;8(1):611. doi: 10.1038/s41467-017-00471-1. Nat Commun. 2017. PMID: 28931804 Free PMC article.
585 results