Mhairi Marshall

Mhairi Marshall

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Mhairi Marshall

Mhairi Marshall

Publications by authors named "Mhairi Marshall"

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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

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

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

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

Brief Report: Intestinal Dysbiosis in Ankylosing Spondylitis.

Arthritis Rheumatol 2015 Mar;67(3):686-691

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

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http://dx.doi.org/10.1002/art.38967DOI Listing
March 2015

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

Comparative pathogenomics reveals horizontally acquired novel virulence genes in fungi infecting cereal hosts.

PLoS Pathog 2012 Sep 27;8(9):e1002952. Epub 2012 Sep 27.

Commonwealth Scientific and Industrial Research Organization (CSIRO) Plant Industry, Queensland Bioscience Precinct, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1371/journal.ppat.1002952DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3460631PMC
September 2012

Pfam: clans, web tools and services.

Nucleic Acids Res 2006 Jan;34(Database issue):D247-51

Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK.

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http://dx.doi.org/10.1093/nar/gkj149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1347511PMC
January 2006

iPfam: visualization of protein-protein interactions in PDB at domain and amino acid resolutions.

Bioinformatics 2005 Feb 7;21(3):410-2. Epub 2004 Sep 7.

The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.

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https://academic.oup.com/bioinformatics/article-lookup/doi/1
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http://dx.doi.org/10.1093/bioinformatics/bti011DOI Listing
February 2005

Rfam: annotating non-coding RNAs in complete genomes.

Nucleic Acids Res 2005 Jan;33(Database issue):D121-4

The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.

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http://dx.doi.org/10.1093/nar/gki081DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC540035PMC
January 2005

A census of human cancer genes.

Nat Rev Cancer 2004 Mar;4(3):177-83

Cancer Genome Project, Human Genome Analysis Group and Pfam Group, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton Cambs, CB10 1SA, UK.

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http://dx.doi.org/10.1038/nrc1299DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2665285PMC
March 2004

The Pfam protein families database.

Nucleic Acids Res 2004 Jan;32(Database issue):D138-41

Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.

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http://dx.doi.org/10.1093/nar/gkh121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC308855PMC
January 2004

Rfam: an RNA family database.

Nucleic Acids Res 2003 Jan;31(1):439-41

The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC165453PMC
http://dx.doi.org/10.1093/nar/gkg006DOI Listing
January 2003

The Pfam protein families database.

Nucleic Acids Res 2002 Jan;30(1):276-80

Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC99071PMC
http://dx.doi.org/10.1093/nar/30.1.276DOI Listing
January 2002