Paul Leo

Paul Leo

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Paul Leo

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A Rare Mutation in SMAD9 Associated With High Bone Mass Identifies the SMAD-Dependent BMP Signaling Pathway as a Potential Anabolic Target for Osteoporosis.

J Bone Miner Res 2019 Sep 16. Epub 2019 Sep 16.

Faculty of Health, Translational Genomics Group, Institute of Health and Biomedical Innovation, Queensland University of Technology (QUT), Translational Research Institute, Princess Alexandra Hospital, Woolloongabba, Australia.

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http://dx.doi.org/10.1002/jbmr.3875DOI Listing
September 2019

Genetic susceptibility to cervical neoplasia.

Papillomavirus Res 2019 06 5;7:132-134. Epub 2019 Apr 5.

Institute of Health and Biomedical Innovation, Queensland University of Technology, Translational Research Institute, Princess Alexandra Hospital, Woolloongabba, QLD, 4102, Australia.

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http://dx.doi.org/10.1016/j.pvr.2019.04.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6460319PMC
June 2019

Comprehensive genetic screening: The prevalence of maturity-onset diabetes of the young gene variants in a population-based childhood diabetes cohort.

Pediatr Diabetes 2019 02 14;20(1):57-64. Epub 2018 Nov 14.

Institute of Health and Biomedical Innovation, Faculty of Health, Queensland University of Technology (QUT), Translational Research Institute, Princess Alexandra Hospital, Brisbane, Queensland, Australia.

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http://doi.wiley.com/10.1111/pedi.12766
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http://dx.doi.org/10.1111/pedi.12766DOI Listing
February 2019

Cost-effectiveness Analysis of Routine Screening Using Massively Parallel Sequencing for Maturity-Onset Diabetes of the Young in a Pediatric Diabetes Cohort: Reduced Health System Costs and Improved Patient Quality of Life.

Diabetes Care 2019 01 6;42(1):69-76. Epub 2018 Dec 6.

Institute of Health and Biomedical Innovation, Faculty of Health, Queensland University of Technology, Translational Research Institute, Woolloongabba, Queensland, Australia

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http://dx.doi.org/10.2337/dc18-0261DOI Listing
January 2019

Genome-wide association study in Guillain-Barré syndrome.

J Neuroimmunol 2018 10 2;323:109-114. Epub 2018 Aug 2.

Translational Genomics Group, Institute of Health and Biomedical Innovation, School of Biomedical Sciences, Queensland University of Technology (QUT) at Translational Research Institute, Brisbane, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.jneuroim.2018.07.016DOI Listing
October 2018

Genome-wide association study of extreme high bone mass: Contribution of common genetic variation to extreme BMD phenotypes and potential novel BMD-associated genes.

Bone 2018 09 5;114:62-71. Epub 2018 Jun 5.

Translational Genomics Group, Institute of Health and Biomedical Innovation, Queensland University of Technology at Translational Research Institute, 37 Kent Street, Woolloongabba 4102, QLD, Australia; Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.

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https://linkinghub.elsevier.com/retrieve/pii/S87563282183022
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http://dx.doi.org/10.1016/j.bone.2018.06.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6086337PMC
September 2018

A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data.

Circ Genom Precis Med 2018 03;11(3):e001978

From the Victor Chang Cardiac Research Institute, Sydney, New South Wales, Australia (J.O.S., H.C., D.T.H., E.I., E.G., D.B.S., J.W.K.H., R.M.G., G.C., S.L.D.); Faculty of Science (J.O.S., S.L.D.) and Faculty of Medicine (H.C., D.T.H., E.I., E.G., D.B.S., J.W.K.H., R.M.G., G.C., S.L.D.), University of New South Wales, Sydney, New South Wales, Australia, Sydney, New South Wales, Australia; Children's Hospital at Westmead, Heart Centre for Children (G.M.B., G.F.S., D.S.W.), Sydney, New South Wales, Australia; Sydney Medical School, University of Sydney, New South Wales, Australia (G.M.B., G.F.S., D.S.W.); Genetic Services of Western Australia, Perth (K.H., N.P.); Sydney Children's Hospitals Network, New South Wales, Australia (G.F.S.); Institute of Health and Biomedical Innovation, Queensland University of Technology (P.L., E.L.D.); Department of Endocrinology and Diabetes, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia (E.L.D.); University of Queensland, Brisbane (E.L.D.); and School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia (N.P.).

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http://dx.doi.org/10.1161/CIRCGEN.117.001978DOI Listing
March 2018

Genetic Variants in ERAP1 and ERAP2 Associated With Immune-Mediated Diseases Influence Protein Expression and the Isoform Profile.

Arthritis Rheumatol 2018 02 29;70(2):255-265. Epub 2017 Dec 29.

Queensland University of Technology and Princess Alexandra Hospital, Brisbane, Queensland, Australia.

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http://doi.wiley.com/10.1002/art.40369
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http://dx.doi.org/10.1002/art.40369DOI Listing
February 2018

NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

N Engl J Med 2017 08;377(6):544-552

From the Divisions of Developmental and Stem Cell Biology (H.S., A.E., M.R., E.M.M.A.M., R.W., J.M., J.O.S., E.I., K.S., J.H., K.K., G.C., D.B.S., S.L.D.), Vascular Biology (G.J.M., R.S.), and Molecular, Structural, and Computational Biology (D.T.H., J.W.K.H., E.G.), Victor Chang Cardiac Research Institute, the Faculties of Medicine and Science, University of New South Wales (H.S., A.E., J.O.S., E.I., D.T.H., G.J.M., J.W.K.H., K.K., R.S., E.G., G.C., D.B.S., S.L.D.), Liverpool Hospital, Department of Clinical Genetics (A.E., A.C.), the Department of Clinical Genetics (A.E., J.S., F.C., D.O.S.) and the Heart Centre for Children (D.S.W.), Children's Hospital at Westmead, the Discipline of Genetic Medicine (A.E., J.S., F.C., D.O.S.) and the Medical School (D.S.W.), University of Sydney, and the Faculty of Medicine and Health Sciences, Macquarie University (C.K.L., G.J.G.) - all in Sydney, the School of Biological Sciences, University of Adelaide, Adelaide, SA (J.N.H., P.Q.T.), and the Institute of Health and Biomedical Innovation, Queensland University of Technology (A.M.M.-L., P.J.L., M.A.B., E.L.D.), the Translational Research Institute (A.M.M.-L., P.J.L., M.A.B., E.L.D.), the Department of Endocrinology, Royal Brisbane and Women's Hospital (E.L.D.), and the University of Queensland School of Medicine (E.L.D.), Brisbane - all in Australia; and Spectrum Health Medical Group, Medical Genetics, Grand Rapids, MI (P.R.M.).

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http://dx.doi.org/10.1056/NEJMoa1616361DOI Listing
August 2017

Genetic diagnostic profiling in axial spondyloarthritis: a real world study.

Clin Exp Rheumatol 2017 Mar-Apr;35(2):229-233. Epub 2016 Oct 7.

University of Queensland Diamantina Institute, Translational Research Institute; and Institute of Health and Biomedical Innovation, Queensland University of Technology, Translational Research Institute, Princess Alexandra Hospital, Brisbane, Australia.

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June 2017

Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.

Am J Med Genet A 2017 Jun 19;173(6):1698-1704. Epub 2017 Apr 19.

Translational Genomics Group, Institute of Health and Biomedical Innovation (IHBI), Queensland University of Technology (QUT) at the Translational Research Institute, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1002/ajmg.a.38215DOI Listing
June 2017

Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.

J Med Genet 2016 07 11;53(7):457-64. Epub 2016 Apr 11.

Department of Genetics, Reference Center for Skeletal Dysplasia, Paris Descartes University-Sorbonne Paris Cité, INSERM U MR1163, IMAGINE Institute, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1136/jmedgenet-2015-103647DOI Listing
July 2016

Exome-wide study of ankylosing spondylitis demonstrates additional shared genetic background with inflammatory bowel disease.

NPJ Genom Med 2016 4;1:16008. Epub 2016 May 4.

Institute of Health and Biomedical Innovation, Queensland University of Technology, Translational Research Institute, Princess Alexandra Hospital Herston, QLD, Australia.

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http://dx.doi.org/10.1038/npjgenmed.2016.8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5685324PMC
May 2016

Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin.

Neurobiol Aging 2015 Dec 18;36(12):3334.e1-3334.e5. Epub 2015 Aug 18.

Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2015.08.013DOI Listing
December 2015

Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture.

Authors:
Hou-Feng Zheng Vincenzo Forgetta Yi-Hsiang Hsu Karol Estrada Alberto Rosello-Diez Paul J Leo Chitra L Dahia Kyung Hyun Park-Min Jonathan H Tobias Charles Kooperberg Aaron Kleinman Unnur Styrkarsdottir Ching-Ti Liu Charlotta Uggla Daniel S Evans Carrie M Nielson Klaudia Walter Ulrika Pettersson-Kymmer Shane McCarthy Joel Eriksson Tony Kwan Mila Jhamai Katerina Trajanoska Yasin Memari Josine Min Jie Huang Petr Danecek Beth Wilmot Rui Li Wen-Chi Chou Lauren E Mokry Alireza Moayyeri Melina Claussnitzer Chia-Ho Cheng Warren Cheung Carolina Medina-Gómez Bing Ge Shu-Huang Chen Kwangbom Choi Ling Oei James Fraser Robert Kraaij Matthew A Hibbs Celia L Gregson Denis Paquette Albert Hofman Carl Wibom Gregory J Tranah Mhairi Marshall Brooke B Gardiner Katie Cremin Paul Auer Li Hsu Sue Ring Joyce Y Tung Gudmar Thorleifsson Anke W Enneman Natasja M van Schoor Lisette C P G M de Groot Nathalie van der Velde Beatrice Melin John P Kemp Claus Christiansen Adrian Sayers Yanhua Zhou Sophie Calderari Jeroen van Rooij Chris Carlson Ulrike Peters Soizik Berlivet Josée Dostie Andre G Uitterlinden Stephen R Williams Charles Farber Daniel Grinberg Andrea Z LaCroix Jeff Haessler Daniel I Chasman Franco Giulianini Lynda M Rose Paul M Ridker John A Eisman Tuan V Nguyen Jacqueline R Center Xavier Nogues Natalia Garcia-Giralt Lenore L Launer Vilmunder Gudnason Dan Mellström Liesbeth Vandenput Najaf Amin Cornelia M van Duijn Magnus K Karlsson Östen Ljunggren Olle Svensson Göran Hallmans François Rousseau Sylvie Giroux Johanne Bussière Pascal P Arp Fjorda Koromani Richard L Prince Joshua R Lewis Bente L Langdahl A Pernille Hermann Jens-Erik B Jensen Stephen Kaptoge Kay-Tee Khaw Jonathan Reeve Melissa M Formosa Angela Xuereb-Anastasi Kristina Åkesson Fiona E McGuigan Gaurav Garg Jose M Olmos Maria T Zarrabeitia Jose A Riancho Stuart H Ralston Nerea Alonso Xi Jiang David Goltzman Tomi Pastinen Elin Grundberg Dominique Gauguier Eric S Orwoll David Karasik George Davey-Smith Albert V Smith Kristin Siggeirsdottir Tamara B Harris M Carola Zillikens Joyce B J van Meurs Unnur Thorsteinsdottir Matthew T Maurano Nicholas J Timpson Nicole Soranzo Richard Durbin Scott G Wilson Evangelia E Ntzani Matthew A Brown Kari Stefansson David A Hinds Tim Spector L Adrienne Cupples Claes Ohlsson Celia M T Greenwood Rebecca D Jackson David W Rowe Cynthia A Loomis David M Evans Cheryl L Ackert-Bicknell Alexandra L Joyner Emma L Duncan Douglas P Kiel Fernando Rivadeneira J Brent Richards

Nature 2015 Oct 14;526(7571):112-7. Epub 2015 Sep 14.

Departments of Medicine, Human Genetics, Epidemiology and Biostatistics, McGill University, Montréal H3A 1A2, Canada.

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http://dx.doi.org/10.1038/nature14878DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4755714PMC
October 2015

C9orf72 hexanucleotide repeat expansions in Chinese sporadic amyotrophic lateral sclerosis.

Neurobiol Aging 2015 Sep 9;36(9):2660.e1-8. Epub 2015 Jun 9.

Department of Neurology, Peking University Third Hospital, Beijing, China. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2015.06.002DOI Listing
September 2015

Identification of a novel FGFRL1 MicroRNA target site polymorphism for bone mineral density in meta-analyses of genome-wide association studies.

Hum Mol Genet 2015 Aug 4;24(16):4710-27. Epub 2015 May 4.

Center for Bioinformatics and Genomics, Department of Biostatistics and Bioinformatics, Tulane University School of Public Health and Tropical Medicine, New Orleans, LA 70112, USA, Key Laboratory of Protein Chemistry and Developmental Biology of State Education Ministry of China, College of Life Sciences, Hunan Normal University, Changsha, Hunan 410081, P. R. China,

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https://hmg.oxfordjournals.org/content/early/2015/06/11/hmg.
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http://www.hmg.oxfordjournals.org/lookup/doi/10.1093/hmg/ddv
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http://dx.doi.org/10.1093/hmg/ddv144DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4512621PMC
August 2015

Corrigendum: a common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.

Authors:
Tin Aung Mineo Ozaki Takanori Mizoguchi R Rand Allingham Zheng Li Aravind Haripriya Satoko Nakano Steffen Uebe Jeffrey M Harder Anita S Y Chan Mei Chin Lee Kathryn P Burdon Yury S Astakhov Khaled K Abu-Amero Juan C Zenteno Yildirim Nilgün Tomasz Zarnowski Mohammad Pakravan Leen Abu Safieh Liyun Jia Ya Xing Wang Susan Williams Daniela Paoli Patricio G Schlottmann Lulin Huang Kar Seng Sim Jia Nee Foo Masakazu Nakano Yoko Ikeda Rajesh S Kumar Morio Ueno Shin-Ichi Manabe Ken Hayashi Shigeyasu Kazama Ryuichi Ideta Yosai Mori Kazunori Miyata Kazuhisa Sugiyama Tomomi Higashide Etsuo Chihara Kenji Inoue Satoshi Ishiko Akitoshi Yoshida Masahide Yanagi Yoshiaki Kiuchi Makoto Aihara Tsutomu Ohashi Toshiya Sakurai Takako Sugimoto Hideki Chuman Fumihiko Matsuda Kenji Yamashiro Norimoto Gotoh Masahiro Miyake Sergei Y Astakhov Essam A Osman Saleh A Al-Obeidan Ohoud Owaidhah Leyla Al-Jasim Sami Al Shahwan Rhys A Fogarty Paul Leo Yaz Yetkin Çilingir Oğuz Mozhgan Rezaei Kanavi Afsaneh Naderi Beni Shahin Yazdani Evgeny L Akopov Kai-Yee Toh Gareth R Howell Andrew C Orr Yufen Goh Wee Yang Meah Su Qin Peh Ewa Kosior-Jarecka Urszula Lukasik Mandy Krumbiegel Eranga N Vithana Tien Yin Wong Yutao Liu Allison E Ashley Koch Pratap Challa Robyn M Rautenbach David A Mackey Alex W Hewitt Paul Mitchell Jie Jin Wang Ari Ziskind Trevor Carmichael Rangappa Ramakrishnan Kalpana Narendran Rangaraj Venkatesh Saravanan Vijayan Peiquan Zhao Xueyi Chen Dalia Guadarrama-Vallejo Ching Yu Cheng Shamira A Perera Rahat Husain Su-Ling Ho Ulrich-Christoph Welge-Luessen Christian Mardin Ursula Schloetzer-Schrehardt Axel M Hillmer Stefan Herms Susanne Moebus Markus M Nöthen Nicole Weisschuh Rohit Shetty Arkasubhra Ghosh Yik Ying Teo Matthew A Brown Ignacio Lischinsky Jonathan G Crowston Michae Coote Bowen Zhao Jinghong Sang Nihong Zhang Qisheng You Vera Vysochinskaya Panayiota Founti Anthoula Chatzikyriakidou Alexandros Lambropoulos Eleftherios Anastasopoulos Anne L Coleman M Roy Wilson Douglas J Rhee Jae Hee Kang Inna May-Bolchakova Steffen Heegaard Kazuhiko Mori Wallace L M Alward Jost B Jonas Liang Xu Jeffrey M Liebmann Balram Chowbay Elke Schaeffeler Matthias Schwab Fabian Lerner Ningli Wang Zhenglin Yang Paolo Frezzotti Shigeru Kinoshita John H Fingert Masaru Inatani Kei Tashiro André Reis Deepak P Edward Louis R Pasquale Toshiaki Kubota Janey L Wiggs Francesca Pasutto Fotis Topouzis Michael Dubina Jamie E Craig Nagahisa Yoshimura Periasamy Sundaresan Simon W M John Robert Ritch Michael A Hauser Chiea-Chuen Khor

Nat Genet 2015 Jun;47(6):689

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http://dx.doi.org/10.1038/ng0615-689cDOI Listing
June 2015

A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.

Authors:
Tin Aung Mineo Ozaki Takanori Mizoguchi R Rand Allingham Zheng Li Aravind Haripriya Satoko Nakano Steffen Uebe Jeffrey M Harder Anita S Y Chan Mei Chin Lee Kathryn P Burdon Yury S Astakhov Khaled K Abu-Amero Juan C Zenteno Yildirim Nilgün Tomasz Zarnowski Mohammad Pakravan Leen Abu Safieh Liyun Jia Ya Xing Wang Susan Williams Daniela Paoli Patricio G Schlottmann Lulin Huang Kar Seng Sim Jia Nee Foo Masakazu Nakano Yoko Ikeda Rajesh S Kumar Morio Ueno Shin-ichi Manabe Ken Hayashi Shigeyasu Kazama Ryuichi Ideta Yosai Mori Kazunori Miyata Kazuhisa Sugiyama Tomomi Higashide Etsuo Chihara Kenji Inoue Satoshi Ishiko Akitoshi Yoshida Masahide Yanagi Yoshiaki Kiuchi Makoto Aihara Tsutomu Ohashi Toshiya Sakurai Takako Sugimoto Hideki Chuman Fumihiko Matsuda Kenji Yamashiro Norimoto Gotoh Masahiro Miyake Sergei Y Astakhov Essam A Osman Saleh A Al-Obeidan Ohoud Owaidhah Leyla Al-Jasim Sami Al Shahwan Rhys A Fogarty Paul Leo Yaz Yetkin Çilingir Oğuz Mozhgan Rezaei Kanavi Afsaneh Nederi Beni Shahin Yazdani Evgeny L Akopov Kai-Yee Toh Gareth R Howell Andrew C Orr Yufen Goh Wee Yang Meah Su Qin Peh Ewa Kosior-Jarecka Urszula Lukasik Mandy Krumbiegel Eranga N Vithana Tien Yin Wong Yutao Liu Allison E Ashley Koch Pratap Challa Robyn M Rautenbach David A Mackey Alex W Hewitt Paul Mitchell Jie Jin Wang Ari Ziskind Trevor Carmichael Rangappa Ramakrishnan Kalpana Narendran Rangaraj Venkatesh Saravanan Vijayan Peiquan Zhao Xueyi Chen Dalia Guadarrama-Vallejo Ching Yu Cheng Shamira A Perera Rahat Husain Su-Ling Ho Ulrich-Christoph Welge-Luessen Christian Mardin Ursula Schloetzer-Schrehardt Axel M Hillmer Stefan Herms Susanne Moebus Markus M Nöthen Nicole Weisschuh Rohit Shetty Arkasubhra Ghosh Yik Ying Teo Matthew A Brown Ignacio Lischinsky Jonathan G Crowston Michael Coote Bowen Zhao Jinghong Sang Nihong Zhang Qisheng You Vera Vysochinskaya Panayiota Founti Anthoula Chatzikyriakidou Alexandros Lambropoulos Eleftherios Anastasopoulos Anne L Coleman M Roy Wilson Douglas J Rhee Jae Hee Kang Inna May-Bolchakova Steffen Heegaard Kazuhiko Mori Wallace L M Alward Jost B Jonas Liang Xu Jeffrey M Liebmann Balram Chowbay Elke Schaeffeler Matthias Schwab Fabian Lerner Ningli Wang Zhenglin Yang Paolo Frezzotti Shigeru Kinoshita John H Fingert Masaru Inatani Kei Tashiro André Reis Deepak P Edward Louis R Pasquale Toshiaki Kubota Janey L Wiggs Francesca Pasutto Fotis Topouzis Michael Dubina Jamie E Craig Nagahisa Yoshimura Periasamy Sundaresan Simon W M John Robert Ritch Michael A Hauser Chiea-Chuen Khor

Nat Genet 2015 Apr 23;47(4):387-92. Epub 2015 Feb 23.

1] Singapore Eye Research Institute, Singapore. [2] Department of Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore. [3] Division of Human Genetics, Genome Institute of Singapore, Singapore.

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http://dx.doi.org/10.1038/ng.3226DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4605818PMC
April 2015

Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.

Hum Mol Genet 2015 Mar 24;24(5):1234-42. Epub 2014 Oct 24.

The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital, Woolloongabba QLD 4102, Australia, Department of Endocrinology, James Mayne Building, Royal Brisbane and Women's Hospital, Butterfield Road, Herston, QLD 4029, Australia The University of Queensland, University of Queensland Centre for Clinical Research, Herston, QLD 4029, Australia

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http://dx.doi.org/10.1093/hmg/ddu534DOI Listing
March 2015

Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.

Nat Genet 2014 Oct 31;46(10):1126-1130. Epub 2014 Aug 31.

Singapore Eye Research Institute, Singapore National Eye Centre, Singapore.

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http://dx.doi.org/10.1038/ng.3087DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4177225PMC
October 2014

Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.

Authors:
Alireza Moayyeri Yi-Hsiang Hsu David Karasik Karol Estrada Su-Mei Xiao Carrie Nielson Priya Srikanth Sylvie Giroux Scott G Wilson Hou-Feng Zheng Albert V Smith Stephen R Pye Paul J Leo Alexander Teumer Joo-Yeon Hwang Claes Ohlsson Fiona McGuigan Ryan L Minster Caroline Hayward José M Olmos Leo-Pekka Lyytikäinen Joshua R Lewis Karin M A Swart Laura Masi Chris Oldmeadow Elizabeth G Holliday Sulin Cheng Natasja M van Schoor Nicholas C Harvey Marcin Kruk Fabiola del Greco M Wilmar Igl Olivia Trummer Efi Grigoriou Robert Luben Ching-Ti Liu Yanhua Zhou Ling Oei Carolina Medina-Gomez Joseph Zmuda Greg Tranah Suzanne J Brown Frances M Williams Nicole Soranzo Johanna Jakobsdottir Kristin Siggeirsdottir Kate L Holliday Anke Hannemann Min Jin Go Melissa Garcia Ozren Polasek Marika Laaksonen Kun Zhu Anke W Enneman Mark McEvoy Roseanne Peel Pak Chung Sham Maciej Jaworski Åsa Johansson Andrew A Hicks Pawel Pludowski Rodney Scott Rosalie A M Dhonukshe-Rutten Nathalie van der Velde Mika Kähönen Jorma S Viikari Harri Sievänen Olli T Raitakari Jesús González-Macías Jose L Hernández Dan Mellström Osten Ljunggren Yoon Shin Cho Uwe Völker Matthias Nauck Georg Homuth Henry Völzke Robin Haring Matthew A Brown Eugene McCloskey Geoffrey C Nicholson Richard Eastell John A Eisman Graeme Jones Ian R Reid Elaine M Dennison John Wark Steven Boonen Dirk Vanderschueren Frederick C W Wu Thor Aspelund J Brent Richards Doug Bauer Albert Hofman Kay-Tee Khaw George Dedoussis Barbara Obermayer-Pietsch Ulf Gyllensten Peter P Pramstaller Roman S Lorenc Cyrus Cooper Annie Wai Chee Kung Paul Lips Markku Alen John Attia Maria Luisa Brandi Lisette C P G M de Groot Terho Lehtimäki José A Riancho Harry Campbell Yongmei Liu Tamara B Harris Kristina Akesson Magnus Karlsson Jong-Young Lee Henri Wallaschofski Emma L Duncan Terence W O'Neill Vilmundur Gudnason Timothy D Spector François Rousseau Eric Orwoll Steven R Cummings Nick J Wareham Fernando Rivadeneira Andre G Uitterlinden Richard L Prince Douglas P Kiel Jonathan Reeve Stephen K Kaptoge

Hum Mol Genet 2014 Jun 14;23(11):3054-68. Epub 2014 Jan 14.

Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.

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http://dx.doi.org/10.1093/hmg/ddt675DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4038791PMC
June 2014

Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.

Bonekey Rep 2013 4;2:456. Epub 2013 Dec 4.

The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital , Brisbane, Queensland, Australia ; Department of Endocrinology, Royal Brisbane and Women's Hospital , Herston, Queensland, Australia.

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http://pubmedcentralcanada.ca/pmcc/articles/PMC3909233/pdf/b
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http://www.nature.com/doifinder/10.1038/bonekey.2013.190
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http://dx.doi.org/10.1038/bonekey.2013.190DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3909233PMC
February 2014

Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas.

Clin Endocrinol (Oxf) 2014 Jan 25;80(1):25-33. Epub 2013 Oct 25.

The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital, Woolloongabba, Brisbane, Australia.

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http://dx.doi.org/10.1111/cen.12331DOI Listing
January 2014

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.

Hum Mol Genet 2013 Apr 17;22(8):1625-31. Epub 2013 Jan 17.

Developmental and Stem Cell Biology Division, Victor Chang Cardiac Research Institute, Sydney, NSW 2010, Australia.

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http://dx.doi.org/10.1093/hmg/ddt012DOI Listing
April 2013

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.

Authors:
Karol Estrada Unnur Styrkarsdottir Evangelos Evangelou Yi-Hsiang Hsu Emma L Duncan Evangelia E Ntzani Ling Oei Omar M E Albagha Najaf Amin John P Kemp Daniel L Koller Guo Li Ching-Ti Liu Ryan L Minster Alireza Moayyeri Liesbeth Vandenput Dana Willner Su-Mei Xiao Laura M Yerges-Armstrong Hou-Feng Zheng Nerea Alonso Joel Eriksson Candace M Kammerer Stephen K Kaptoge Paul J Leo Gudmar Thorleifsson Scott G Wilson James F Wilson Ville Aalto Markku Alen Aaron K Aragaki Thor Aspelund Jacqueline R Center Zoe Dailiana David J Duggan Melissa Garcia Natàlia Garcia-Giralt Sylvie Giroux Göran Hallmans Lynne J Hocking Lise Bjerre Husted Karen A Jameson Rita Khusainova Ghi Su Kim Charles Kooperberg Theodora Koromila Marcin Kruk Marika Laaksonen Andrea Z Lacroix Seung Hun Lee Ping C Leung Joshua R Lewis Laura Masi Simona Mencej-Bedrac Tuan V Nguyen Xavier Nogues Millan S Patel Janez Prezelj Lynda M Rose Serena Scollen Kristin Siggeirsdottir Albert V Smith Olle Svensson Stella Trompet Olivia Trummer Natasja M van Schoor Jean Woo Kun Zhu Susana Balcells Maria Luisa Brandi Brendan M Buckley Sulin Cheng Claus Christiansen Cyrus Cooper George Dedoussis Ian Ford Morten Frost David Goltzman Jesús González-Macías Mika Kähönen Magnus Karlsson Elza Khusnutdinova Jung-Min Koh Panagoula Kollia Bente Lomholt Langdahl William D Leslie Paul Lips Östen Ljunggren Roman S Lorenc Janja Marc Dan Mellström Barbara Obermayer-Pietsch José M Olmos Ulrika Pettersson-Kymmer David M Reid José A Riancho Paul M Ridker François Rousseau P Eline Slagboom Nelson L S Tang Roser Urreizti Wim Van Hul Jorma Viikari María T Zarrabeitia Yurii S Aulchenko Martha Castano-Betancourt Elin Grundberg Lizbeth Herrera Thorvaldur Ingvarsson Hrefna Johannsdottir Tony Kwan Rui Li Robert Luben Carolina Medina-Gómez Stefan Th Palsson Sjur Reppe Jerome I Rotter Gunnar Sigurdsson Joyce B J van Meurs Dominique Verlaan Frances M K Williams Andrew R Wood Yanhua Zhou Kaare M Gautvik Tomi Pastinen Soumya Raychaudhuri Jane A Cauley Daniel I Chasman Graeme R Clark Steven R Cummings Patrick Danoy Elaine M Dennison Richard Eastell John A Eisman Vilmundur Gudnason Albert Hofman Rebecca D Jackson Graeme Jones J Wouter Jukema Kay-Tee Khaw Terho Lehtimäki Yongmei Liu Mattias Lorentzon Eugene McCloskey Braxton D Mitchell Kannabiran Nandakumar Geoffrey C Nicholson Ben A Oostra Munro Peacock Huibert A P Pols Richard L Prince Olli Raitakari Ian R Reid John Robbins Philip N Sambrook Pak Chung Sham Alan R Shuldiner Frances A Tylavsky Cornelia M van Duijn Nick J Wareham L Adrienne Cupples Michael J Econs David M Evans Tamara B Harris Annie Wai Chee Kung Bruce M Psaty Jonathan Reeve Timothy D Spector Elizabeth A Streeten M Carola Zillikens Unnur Thorsteinsdottir Claes Ohlsson David Karasik J Brent Richards Matthew A Brown Kari Stefansson André G Uitterlinden Stuart H Ralston John P A Ioannidis Douglas P Kiel Fernando Rivadeneira

Nat Genet 2012 Apr 15;44(5):491-501. Epub 2012 Apr 15.

Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands.

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Tumor-initiating activity and tumor morphology of HNSCC is modulated by interactions between clonal variants within the tumor.

Lab Invest 2010 Nov 26;90(11):1594-603. Epub 2010 Jul 26.

Epithelial Pathobiology Group, Diamantina Institute, Princess Alexandra Hospital, University of Queensland, Woolloongabba, Queensland, Australia.

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Diamantina Institute for Cancer, Immunology & Metabolic Medicine, Princess Alexandra Hospital, Ipswich Road, Woolloongabba, QLD 4102, Australia.

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Cisplatin treatment induces a transient increase in tumorigenic potential associated with high interleukin-6 expression in head and neck squamous cell carcinoma.

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Diamantina Institute, The University of Queensland, Princess Alexandra Hospital, Ipswich Road, Brisbane, Queensland, Australia.

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Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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Professorial Research Fellow, Deputy Director and Head Cancer Biology Program, University of Queensland Diamantina Institute for Cancer, Immunology and Metabolic Medicine, Princess Alexandra Hospital, Woolloongabba, Queensland, Australia.

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