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Genome-wide association study in Turkish and Iranian populations identify rare familial Mediterranean fever gene (MEFV) polymorphisms associated with ankylosing spondylitis.
Published in:
PLoS Genetics, 2019, v. 15, n. 4, p. 1, doi. 10.1371/journal.pgen.1008038
By:
- Li, Zhixiu;
- Akar, Servet;
- Yarkan, Handan;
- Lee, Sau Kuen;
- Çetin, Pınar;
- Can, Gerçek;
- Kenar, Gökce;
- Çapa, Fernur;
- Pamuk, Omer Nuri;
- Pehlivan, Yavuz;
- Cremin, Katie;
- De Guzman, Erika;
- Harris, Jessica;
- Wheeler, Lawrie;
- Jamshidi, Ahmadreza;
- Vojdanian, Mahdi;
- Farhadi, Elham;
- Ahmadzadeh, Nooshin;
- Yüce, Zeynep;
- Dalkılıç, Ediz
Publication type:
Article
Compound heterozygous mutations in FBN1 in a large family with Marfan syndrome.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 3, p. 1, doi. 10.1002/mgg3.1116
By:
- McInerney‐Leo, Aideen M.;
- West, Jennifer;
- Wheeler, Lawrie;
- Leo, Paul J.;
- Summers, Kim M.;
- Anderson, Lisa;
- Brown, Matthew A.;
- West, Malcolm;
- Duncan, Emma L.
Publication type:
Article
Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1698, doi. 10.1002/ajmg.a.38215
By:
- McInerney‐Leo, Aideen M.;
- Wheeler, Lawrie;
- Marshall, Mhairi S.;
- Anderson, Lisa K.;
- Zankl, Andreas;
- Brown, Matthew A.;
- Leo, Paul J.;
- Wicking, Carol;
- Duncan, Emma L.
Publication type:
Article
Longitudinal expression profiling of CD4+ and CD8+ cells in patients with active to quiescent giant cell arteritis.
Published in:
BMC Medical Genomics, 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s12920-018-0376-4
By:
- De Smit, Elisabeth;
- Lukowski, Samuel W.;
- Anderson, Lisa;
- Senabouth, Anne;
- Dauyey, Kaisar;
- Song, Sharon;
- Wyse, Bruce;
- Wheeler, Lawrie;
- Chen, Christine Y.;
- Cao, Khoa;
- Wong Ten Yuen, Amy;
- Shuey, Neil;
- Clarke, Linda;
- Lopez Sanchez, Isabel;
- Hung, Sandy S. C.;
- Pébay, Alice;
- Mackey, David A.;
- Brown, Matthew A.;
- Hewitt, Alex W.;
- Powell, Joseph E.
Publication type:
Article
Germline ERBB3 mutation in familial non-small-cell lung carcinoma: expanding ErbB’s role in oncogenesis.
Published in:
Human Molecular Genetics, 2021, v. 30, n. 24, p. 2393, doi. 10.1093/hmg/ddab172
By:
- McInerney-Leo, Aideen M.;
- Hui Yi Chew;
- Inglis, Po-Ling;
- Leo, Paul J.;
- Joseph, Shannon R.;
- Cooper, Caroline L.;
- Satomi Okano;
- Hassall, Tim;
- Anderson, Lisa K.;
- Bowman, Rayleen V.;
- Gattas, Michael;
- Harris, Jessica E.;
- Marshall, Mhairi S.;
- Shaw, Janet G.;
- Wheeler, Lawrie;
- Yang, Ian A.;
- Brown, Matthew A.;
- Fong, Kwun M.;
- Simpson, Fiona;
- Duncan, Emma L.
Publication type:
Article
Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.
Published in:
Human Mutation, 2016, v. 37, n. 7, p. 695, doi. 10.1002/humu.22994
By:
- McInerney‐Leo, Aideen M.;
- Harris, Jessica E.;
- Gattas, Michael;
- Peach, Elizabeth E.;
- Sinnott, Stephen;
- Dudding‐Byth, Tracy;
- Rajagopalan, Sulekha;
- Barnett, Christopher P.;
- Anderson, Lisa K.;
- Wheeler, Lawrie;
- Brown, Matthew A.;
- Leo, Paul J.;
- Wicking, Carol;
- Duncan, Emma L.
Publication type:
Article
Interleukin‐1 Is Overexpressed in Injured Muscles Following Spinal Cord Injury and Promotes Neurogenic Heterotopic Ossification.
Published in:
Journal of Bone & Mineral Research, 2022, v. 37, n. 3, p. 531, doi. 10.1002/jbmr.4482
By:
- Tseng, Hsu‐Wen;
- Kulina, Irina;
- Girard, Dorothée;
- Gueguen, Jules;
- Vaquette, Cedryck;
- Salga, Marjorie;
- Fleming, Whitney;
- Jose, Beulah;
- Millard, Susan M;
- Pettit, Allison R;
- Schroder, Kate;
- Thomas, Gethin;
- Wheeler, Lawrie;
- Genêt, François;
- Banzet, Sébastien;
- Alexander, Kylie A;
- Lévesque, Jean‐Pierre
Publication type:
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.
Published in:
Journal of Bone & Mineral Research, 2020, v. 35, n. 1, p. 92, doi. 10.1002/jbmr.3875
By:
- Gregson, Celia L;
- Bergen, Dylan J. M.;
- Leo, Paul;
- Sessions, Richard B;
- Wheeler, Lawrie;
- Hartley, April;
- Youlten, Scott;
- Croucher, Peter I;
- McInerney‐Leo, Aideen M;
- Fraser, William;
- Tang, Jonathan CY;
- Anderson, Lisa;
- Marshall, Mhairi;
- Sergot, Leon;
- Paternoster, Lavinia;
- Davey Smith, George;
- Brown, Matthew A;
- Hammond, Chrissy;
- Kemp, John P;
- Tobias, Jon H
Publication type:
Article
Mutations in Known Monogenic High Bone Mass Loci Only Explain a Small Proportion of High Bone Mass Cases.
Published in:
Journal of Bone & Mineral Research, 2016, v. 31, n. 3, p. 640, doi. 10.1002/jbmr.2706
By:
- Gregson, Celia L;
- Wheeler, Lawrie;
- Hardcastle, Sarah A;
- Appleton, Louise H;
- Addison, Kathryn A;
- Brugmans, Marieke;
- Clark, Graeme R;
- Ward, Kate A;
- Paggiosi, Margaret;
- Stone, Mike;
- Thomas, Joegi;
- Agarwal, Rohan;
- Poole, Kenneth ES;
- McCloskey, Eugene;
- Fraser, William D;
- Williams, Eleanor;
- Bullock, Alex N;
- Davey Smith, George;
- Brown, Matthew A;
- Tobias, Jon H
Publication type:
Article

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