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Author/Creator Leo, Paul

1. A Rare Mutation in SMAD9 Associated With High Bone Mass Identifies the SMAD‐Dependent BMP Signaling Pathway as a Potential Anabolic Target for Osteoporosis. (14th November 2019)

Authors:
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,...
Journal:
Journal of bone and mineral research
Issue:
Volume 35:Number 1(2020)
Page Start:
92
Record Type:
Journal Article
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2. A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data. (March 2018)

Authors:
Szot, Justin O.; Cuny, Hartmut; Blue, Gillian M.; Humphreys, David T.; Ip, Eddie; Harrison, Katrina; Sholler, Gary F.; Giannoulatou, Eleni; Leo, Paul; Duncan, Emma L.; Sparrow, Duncan B.; Ho, Joshua W.K.; Graham, Robert M.; Pachter, Nicholas; Chapman, Gavin; Winlaw, David S.; Dunwoodie, Sally L.
Journal:
Circulation
Issue:
Volume 11:Number 3(2018)
Page Start:
Record Type:
Journal Article
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3. An N‐Ethyl‐N‐Nitrosourea (ENU)‐Induced Tyr265Stop Mutation of the DNA Polymerase Accessory Subunit Gamma 2 (Polg2) Is Associated With Renal Calcification in Mice. (14th December 2018)

Authors:
Gorvin, Caroline M; Ahmad, Bushra N; Stechman, Michael J; Loh, Nellie Y; Hough, Tertius A; Leo, Paul; Marshall, Mhairi; Sethi, Siddharth; Bentley, Liz; Piret, Sian E; Reed, Anita; Jeyabalan, Jeshmi; Christie, Paul T; Wells, Sara; Simon, Michelle M; Mallon, Ann‐Marie; Schulz, Herbert; Huebner, Nor...
Journal:
Journal of bone and mineral research
Issue:
Volume 34:Number 3(2019)
Page Start:
497
Record Type:
Journal Article
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4. Analysis of human leukocyte antigen associations in human papillomavirus–positive and –negative head and neck cancer: Comparison with cervical cancer. Issue 10 (17th February 2022)

Authors:
Ekanayake Weeramange, Chameera; Shu, Danhua; Tang, Kai Dun; Batra, Jyotsna; Ladwa, Rahul; Kenny, Lizbeth; Vasani, Sarju; Frazer, Ian H.; Dolcetti, Riccardo; Ellis, Jonathan J.; Sturm, Richard A.; Leo, Paul; Punyadeera, Chamindie
Journal:
Cancer
Issue:
Volume 128:Issue 10(2022)
Page Start:
1937
Record Type:
Journal Article
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5. Clinical usefulness of comprehensive genetic screening in maturity onset diabetes of the young (MODY): A novel ABCC8 mutation in a previously screened family: 综合遗传筛查在青少年发病的成年型糖尿病(MODY)患者中的临床应用价值:在既往筛查过的一个家族中找到了一个新的ABCC8突变. Issue 9 (13th June 2018)

Authors:
Johnson, Stephanie R.; Leo, Paul; Conwell, Louise S.; Harris, Mark; Brown, Matthew A.; Duncan, Emma L.
Journal:
Journal of diabetes
Issue:
Volume 10:Issue 9(2018)
Page Start:
764
Record Type:
Journal Article
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6. ERAP2 is associated with ankylosing spondylitis in HLA-B27-positive and HLA-B27-negative patients. Issue 8 (27th April 2015)

Authors:
Robinson, Philip C; Costello, Mary-Ellen; Leo, Paul; Bradbury, Linda A; Hollis, Kelly; Cortes, Adrian; Lee, Seunghun; Joo, Kyung Bin; Shim, Seung-Cheol; Weisman, Michael; Ward, Michael; Zhou, Xiaodong; Garchon, Henri-Jean; Chiocchia, Gilles; Nossent, Johannes; Lie, Benedicte A; Førre, Øystein; Tu...
Journal:
Annals of the rheumatic diseases
Issue:
Volume 74:Issue 8(2015)
Page Start:
1627
Record Type:
Journal Article
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8. Genetic Dissection of Acute Anterior Uveitis Reveals Similarities and Differences in Associations Observed With Ankylosing Spondylitis. Issue 1 (January 2015)

Authors:
Robinson, Philip C.; Claushuis, Theodora A. M.; Cortes, Adrian; Martin, Tammy M.; Evans, David M.; Leo, Paul; Mukhopadhyay, Pamela; Bradbury, Linda A.; Cremin, Katie; Harris, Jessica; Maksymowych, Walter P.; Inman, Robert D.; Rahman, Proton; Haroon, Nigil; Gensler, Lianne; Powell, Joseph E.; van ...
Journal:
Arthritis & rheumatology
Issue:
Volume 67:Issue 1(2015)
Page Start:
140
Record Type:
Journal Article
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10. Genetic Variants in ERAP1 and ERAP2 Associated With Immune‐Mediated Diseases Influence Protein Expression and the Isoform Profile. Issue 2 (29th December 2017)

Authors:
Hanson, Aimee L.; Cuddihy, Thomas; Haynes, Katelin; Loo, Dorothy; Morton, Craig J.; Oppermann, Udo; Leo, Paul; Thomas, Gethin P.; Lê Cao, Kim‐Anh; Kenna, Tony J.; Brown, Matthew A.
Journal:
Arthritis & rheumatology
Issue:
Volume 70:Issue 2(2018)
Page Start:
255
Record Type:
Journal Article
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