Kim M Summers

Kim M Summers

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Kim M Summers

Kim M Summers

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Visualization and analysis of RNA-Seq assembly graphs.

Nucleic Acids Res 2019 Aug;47(14):7262-7275

Systems Immunology Group, The Roslin Institute and Royal (Dick) School of Veterinary Studies, The University of Edinburgh, Edinburgh EH25 9RG, UK.

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http://dx.doi.org/10.1093/nar/gkz599DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6698738PMC
August 2019

Phenotypic impacts of CSF1R deficiencies in humans and model organisms.

J Leukoc Biol 2019 Jul 22. Epub 2019 Jul 22.

Mater Research Institute, University of Queensland, Woolloongabba, Queensland, Australia.

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http://dx.doi.org/10.1002/JLB.MR0519-143RDOI Listing
July 2019

Lysine demethylases KDM6A and UTY: The X and Y of histone demethylation.

Mol Genet Metab 2019 05 6;127(1):31-44. Epub 2019 May 6.

Mater Research Institute-University of Queensland, Translational Research Institute, 37 Kent St, Woolloongabba, QLD 4102, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.04.012DOI Listing
May 2019

The Effect of Race Training on the Basal Gene Expression of Alveolar Macrophages Derived From Standardbred Racehorses.

J Equine Vet Sci 2019 Apr 29;75:48-54. Epub 2019 Jan 29.

The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Easter Bush, Midlothian, UK.

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http://dx.doi.org/10.1016/j.jevs.2019.01.010DOI Listing
April 2019

The influence of X chromosome variants on trait neuroticism.

Mol Psychiatry 2019 Mar 6. Epub 2019 Mar 6.

Centre for Cognitive Ageing and Cognitive Epidemiology, Department of Psychology, School of Philosophy, Psychology and Language Sciences, The University of Edinburgh, Edinburgh, UK.

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http://dx.doi.org/10.1038/s41380-019-0388-2DOI Listing
March 2019

Exploiting novel valve interstitial cell lines to study calcific aortic valve disease.

Mol Med Rep 2018 Feb 27;17(2):2100-2106. Epub 2017 Nov 27.

The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Midlothian EH25 9RG, UK.

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http://dx.doi.org/10.3892/mmr.2017.8163DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5783449PMC
February 2018

Identification of the macrophage-specific promoter signature in FANTOM5 mouse embryo developmental time course data.

J Leukoc Biol 2017 10 27;102(4):1081-1092. Epub 2017 Jul 27.

The Roslin Institute and Royal (Dick) School of Veterinary Studies, The University of Edinburgh, Easter Bush Campus, Midlothian, United Kingdom; and

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http://dx.doi.org/10.1189/jlb.1A0417-150RRDOI Listing
October 2017

A high resolution atlas of gene expression in the domestic sheep (Ovis aries).

PLoS Genet 2017 Sep 15;13(9):e1006997. Epub 2017 Sep 15.

The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Edinburgh, Scotland, United Kingdom.

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http://dx.doi.org/10.1371/journal.pgen.1006997DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5626511PMC
September 2017

FANTOM5 CAGE profiles of human and mouse samples.

Authors:
Shuhei Noguchi Takahiro Arakawa Shiro Fukuda Masaaki Furuno Akira Hasegawa Fumi Hori Sachi Ishikawa-Kato Kaoru Kaida Ai Kaiho Mutsumi Kanamori-Katayama Tsugumi Kawashima Miki Kojima Atsutaka Kubosaki Ri-Ichiroh Manabe Mitsuyoshi Murata Sayaka Nagao-Sato Kenichi Nakazato Noriko Ninomiya Hiromi Nishiyori-Sueki Shohei Noma Eri Saijyo Akiko Saka Mizuho Sakai Christophe Simon Naoko Suzuki Michihira Tagami Shoko Watanabe Shigehiro Yoshida Peter Arner Richard A Axton Magda Babina J Kenneth Baillie Timothy C Barnett Anthony G Beckhouse Antje Blumenthal Beatrice Bodega Alessandro Bonetti James Briggs Frank Brombacher Ailsa J Carlisle Hans C Clevers Carrie A Davis Michael Detmar Taeko Dohi Albert S B Edge Matthias Edinger Anna Ehrlund Karl Ekwall Mitsuhiro Endoh Hideki Enomoto Afsaneh Eslami Michela Fagiolini Lynsey Fairbairn Mary C Farach-Carson Geoffrey J Faulkner Carmelo Ferrai Malcolm E Fisher Lesley M Forrester Rie Fujita Jun-Ichi Furusawa Teunis B Geijtenbeek Thomas Gingeras Daniel Goldowitz Sven Guhl Reto Guler Stefano Gustincich Thomas J Ha Masahide Hamaguchi Mitsuko Hara Yuki Hasegawa Meenhard Herlyn Peter Heutink Kelly J Hitchens David A Hume Tomokatsu Ikawa Yuri Ishizu Chieko Kai Hiroshi Kawamoto Yuki I Kawamura Judith S Kempfle Tony J Kenna Juha Kere Levon M Khachigian Toshio Kitamura Sarah Klein S Peter Klinken Alan J Knox Soichi Kojima Haruhiko Koseki Shigeo Koyasu Weonju Lee Andreas Lennartsson Alan Mackay-Sim Niklas Mejhert Yosuke Mizuno Hiromasa Morikawa Mitsuru Morimoto Kazuyo Moro Kelly J Morris Hozumi Motohashi Christine L Mummery Yutaka Nakachi Fumio Nakahara Toshiyuki Nakamura Yukio Nakamura Tadasuke Nozaki Soichi Ogishima Naganari Ohkura Hiroshi Ohno Mitsuhiro Ohshima Mariko Okada-Hatakeyama Yasushi Okazaki Valerio Orlando Dmitry A Ovchinnikov Robert Passier Margaret Patrikakis Ana Pombo Swati Pradhan-Bhatt Xian-Yang Qin Michael Rehli Patrizia Rizzu Sugata Roy Antti Sajantila Shimon Sakaguchi Hiroki Sato Hironori Satoh Suzana Savvi Alka Saxena Christian Schmidl Claudio Schneider Gundula G Schulze-Tanzil Anita Schwegmann Guojun Sheng Jay W Shin Daisuke Sugiyama Takaaki Sugiyama Kim M Summers Naoko Takahashi Jun Takai Hiroshi Tanaka Hideki Tatsukawa Andru Tomoiu Hiroo Toyoda Marc van de Wetering Linda M van den Berg Roberto Verardo Dipti Vijayan Christine A Wells Louise N Winteringham Ernst Wolvetang Yoko Yamaguchi Masayuki Yamamoto Chiyo Yanagi-Mizuochi Misako Yoneda Yohei Yonekura Peter G Zhang Silvia Zucchelli Imad Abugessaisa Erik Arner Jayson Harshbarger Atsushi Kondo Timo Lassmann Marina Lizio Serkan Sahin Thierry Sengstag Jessica Severin Hisashi Shimoji Masanori Suzuki Harukazu Suzuki Jun Kawai Naoto Kondo Masayoshi Itoh Carsten O Daub Takeya Kasukawa Hideya Kawaji Piero Carninci Alistair R R Forrest Yoshihide Hayashizaki

Sci Data 2017 08 29;4:170112. Epub 2017 Aug 29.

RIKEN Omics Science Center, Yokohama, Kanagawa 230-0045, Japan.

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http://dx.doi.org/10.1038/sdata.2017.112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5574368PMC
August 2017

Comparative Transcriptomic Profiling and Gene Expression for Myxomatous Mitral Valve Disease in the Dog and Human.

Vet Sci 2017 Jul 17;4(3). Epub 2017 Jul 17.

Roslin Institute, The University of Edinburgh, Easterbush Veterinary Centre, Roslin, Scotland EH25 9RG, UK.

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http://dx.doi.org/10.3390/vetsci4030034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5644653PMC
July 2017

Integration of quantitated expression estimates from polyA-selected and rRNA-depleted RNA-seq libraries.

BMC Bioinformatics 2017 Jun 13;18(1):301. Epub 2017 Jun 13.

The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Easter Bush, Midlothian, EH25 9RG, UK.

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http://dx.doi.org/10.1186/s12859-017-1714-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5470212PMC
June 2017

Incidence rates and risk factor analyses for owner reported vomiting and diarrhoea in Labrador Retrievers - findings from the Dogslife Cohort.

Prev Vet Med 2017 May 27;140:19-29. Epub 2017 Feb 27.

Royal (Dick) School of Veterinary Studies and Roslin Institute, University of Edinburgh, Easter Bush, Midlothian, EH25 9RG, Scotland, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.prevetmed.2017.02.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5424887PMC
May 2017

Analysis of gene expression in the nervous system identifies key genes and novel candidates for health and disease.

Neurogenetics 2017 Apr 11;18(2):81-95. Epub 2017 Feb 11.

The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Easter Bush, Midlothian, EH25 9RG, UK.

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http://dx.doi.org/10.1007/s10048-017-0509-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5359387PMC
April 2017

Expression of FBN1 during adipogenesis: Relevance to the lipodystrophy phenotype in Marfan syndrome and related conditions.

Mol Genet Metab 2016 09 23;119(1-2):174-85. Epub 2016 Jun 23.

The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Easter Bush, EH25 9RG, UK. Electronic address:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5044862PMC
http://dx.doi.org/10.1016/j.ymgme.2016.06.009DOI Listing
September 2016

Macrophage colony-stimulating factor (CSF1) controls monocyte production and maturation and the steady-state size of the liver in pigs.

Am J Physiol Gastrointest Liver Physiol 2016 09 21;311(3):G533-47. Epub 2016 Jul 21.

The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Easter Bush, Scotland, United Kingdom; and

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http://dx.doi.org/10.1152/ajpgi.00116.2016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5076001PMC
September 2016

Datasets of genes coexpressed with FBN1 in mouse adipose tissue and during human adipogenesis.

Data Brief 2016 Sep 5;8:851-7. Epub 2016 Jul 5.

The Roslin Institute, University of Edinburgh, Easter Bush, EH25 9RG, UK.

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http://dx.doi.org/10.1016/j.dib.2016.06.055DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4959917PMC
September 2016

What can cohort studies in the dog tell us?

Canine Genet Epidemiol 2014 15;1. Epub 2014 May 15.

The Roslin Institute and The Royal (Dick) School of Veterinary Studies, The University of Edinburgh, Easter Bush, Midlothian, EH25 9RG UK.

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http://dx.doi.org/10.1186/2052-6687-1-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4574393PMC
September 2015

The challenges of pedigree dog health: approaches to combating inherited disease.

Canine Genet Epidemiol 2015 11;2. Epub 2015 Feb 11.

The Roslin Institute and the Royal (Dick) School of Veterinary Studies, University of Edinburgh, Easter Bush Campus, Midlothian, EHG25 9RG UK.

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http://dx.doi.org/10.1186/s40575-015-0014-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4579364PMC
September 2015

Validity of Internet-based longitudinal study data: the elephant in the virtual room.

J Med Internet Res 2015 Apr 16;17(4):e96. Epub 2015 Apr 16.

The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Edinburgh, United Kingdom.

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http://dx.doi.org/10.2196/jmir.3530DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4416133PMC
April 2015

Transcribed enhancers lead waves of coordinated transcription in transitioning mammalian cells.

Authors:
Erik Arner Carsten O Daub Kristoffer Vitting-Seerup Robin Andersson Berit Lilje Finn Drabløs Andreas Lennartsson Michelle Rönnerblad Olga Hrydziuszko Morana Vitezic Tom C Freeman Ahmad M N Alhendi Peter Arner Richard Axton J Kenneth Baillie Anthony Beckhouse Beatrice Bodega James Briggs Frank Brombacher Margaret Davis Michael Detmar Anna Ehrlund Mitsuhiro Endoh Afsaneh Eslami Michela Fagiolini Lynsey Fairbairn Geoffrey J Faulkner Carmelo Ferrai Malcolm E Fisher Lesley Forrester Daniel Goldowitz Reto Guler Thomas Ha Mitsuko Hara Meenhard Herlyn Tomokatsu Ikawa Chieko Kai Hiroshi Kawamoto Levon M Khachigian S Peter Klinken Soichi Kojima Haruhiko Koseki Sarah Klein Niklas Mejhert Ken Miyaguchi Yosuke Mizuno Mitsuru Morimoto Kelly J Morris Christine Mummery Yutaka Nakachi Soichi Ogishima Mariko Okada-Hatakeyama Yasushi Okazaki Valerio Orlando Dmitry Ovchinnikov Robert Passier Margaret Patrikakis Ana Pombo Xian-Yang Qin Sugata Roy Hiroki Sato Suzana Savvi Alka Saxena Anita Schwegmann Daisuke Sugiyama Rolf Swoboda Hiroshi Tanaka Andru Tomoiu Louise N Winteringham Ernst Wolvetang Chiyo Yanagi-Mizuochi Misako Yoneda Susan Zabierowski Peter Zhang Imad Abugessaisa Nicolas Bertin Alexander D Diehl Shiro Fukuda Masaaki Furuno Jayson Harshbarger Akira Hasegawa Fumi Hori Sachi Ishikawa-Kato Yuri Ishizu Masayoshi Itoh Tsugumi Kawashima Miki Kojima Naoto Kondo Marina Lizio Terrence F Meehan Christopher J Mungall Mitsuyoshi Murata Hiromi Nishiyori-Sueki Serkan Sahin Sayaka Nagao-Sato Jessica Severin Michiel J L de Hoon Jun Kawai Takeya Kasukawa Timo Lassmann Harukazu Suzuki Hideya Kawaji Kim M Summers Christine Wells David A Hume Alistair R R Forrest Albin Sandelin Piero Carninci Yoshihide Hayashizaki

Science 2015 Feb 12;347(6225):1010-4. Epub 2015 Feb 12.

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http://dx.doi.org/10.1126/science.1259418DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4681433PMC
February 2015

Transcriptional switching in macrophages associated with the peritoneal foreign body response.

Immunol Cell Biol 2014 Jul 18;92(6):518-26. Epub 2014 Mar 18.

Australian Institute for Bioengineering and Nanotechnology, University of Queensland, Brisbane, Queensland, Australia.

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http://doi.wiley.com/10.1038/icb.2014.19
Publisher Site
http://dx.doi.org/10.1038/icb.2014.19DOI Listing
July 2014

Transcriptional profiling of the human fibrillin/LTBP gene family, key regulators of mesenchymal cell functions.

Mol Genet Metab 2014 May 16;112(1):73-83. Epub 2013 Dec 16.

The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Easter Bush EH25 9RG, UK; The University of Queensland Northside Clinical School, Prince Charles Hospital, Chermside 4032, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2013.12.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4019825PMC
May 2014

A promoter-level mammalian expression atlas.

Authors:
Alistair R R Forrest Hideya Kawaji Michael Rehli J Kenneth Baillie Michiel J L de Hoon Vanja Haberle Timo Lassmann Ivan V Kulakovskiy Marina Lizio Masayoshi Itoh Robin Andersson Christopher J Mungall Terrence F Meehan Sebastian Schmeier Nicolas Bertin Mette Jørgensen Emmanuel Dimont Erik Arner Christian Schmidl Ulf Schaefer Yulia A Medvedeva Charles Plessy Morana Vitezic Jessica Severin Colin A Semple Yuri Ishizu Robert S Young Margherita Francescatto Intikhab Alam Davide Albanese Gabriel M Altschuler Takahiro Arakawa John A C Archer Peter Arner Magda Babina Sarah Rennie Piotr J Balwierz Anthony G Beckhouse Swati Pradhan-Bhatt Judith A Blake Antje Blumenthal Beatrice Bodega Alessandro Bonetti James Briggs Frank Brombacher A Maxwell Burroughs Andrea Califano Carlo V Cannistraci Daniel Carbajo Yun Chen Marco Chierici Yari Ciani Hans C Clevers Emiliano Dalla Carrie A Davis Michael Detmar Alexander D Diehl Taeko Dohi Finn Drabløs Albert S B Edge Matthias Edinger Karl Ekwall Mitsuhiro Endoh Hideki Enomoto Michela Fagiolini Lynsey Fairbairn Hai Fang Mary C Farach-Carson Geoffrey J Faulkner Alexander V Favorov Malcolm E Fisher Martin C Frith Rie Fujita Shiro Fukuda Cesare Furlanello Masaaki Furino Jun-ichi Furusawa Teunis B Geijtenbeek Andrew P Gibson Thomas Gingeras Daniel Goldowitz Julian Gough Sven Guhl Reto Guler Stefano Gustincich Thomas J Ha Masahide Hamaguchi Mitsuko Hara Matthias Harbers Jayson Harshbarger Akira Hasegawa Yuki Hasegawa Takehiro Hashimoto Meenhard Herlyn Kelly J Hitchens Shannan J Ho Sui Oliver M Hofmann Ilka Hoof Furni Hori Lukasz Huminiecki Kei Iida Tomokatsu Ikawa Boris R Jankovic Hui Jia Anagha Joshi Giuseppe Jurman Bogumil Kaczkowski Chieko Kai Kaoru Kaida Ai Kaiho Kazuhiro Kajiyama Mutsumi Kanamori-Katayama Artem S Kasianov Takeya Kasukawa Shintaro Katayama Sachi Kato Shuji Kawaguchi Hiroshi Kawamoto Yuki I Kawamura Tsugumi Kawashima Judith S Kempfle Tony J Kenna Juha Kere Levon M Khachigian Toshio Kitamura S Peter Klinken Alan J Knox Miki Kojima Soichi Kojima Naoto Kondo Haruhiko Koseki Shigeo Koyasu Sarah Krampitz Atsutaka Kubosaki Andrew T Kwon Jeroen F J Laros Weonju Lee Andreas Lennartsson Kang Li Berit Lilje Leonard Lipovich Alan Mackay-Sim Ri-ichiroh Manabe Jessica C Mar Benoit Marchand Anthony Mathelier Niklas Mejhert Alison Meynert Yosuke Mizuno David A de Lima Morais Hiromasa Morikawa Mitsuru Morimoto Kazuyo Moro Efthymios Motakis Hozumi Motohashi Christine L Mummery Mitsuyoshi Murata Sayaka Nagao-Sato Yutaka Nakachi Fumio Nakahara Toshiyuki Nakamura Yukio Nakamura Kenichi Nakazato Erik van Nimwegen Noriko Ninomiya Hiromi Nishiyori Shohei Noma Shohei Noma Tadasuke Noazaki Soichi Ogishima Naganari Ohkura Hiroko Ohimiya Hiroshi Ohno Mitsuhiro Ohshima Mariko Okada-Hatakeyama Yasushi Okazaki Valerio Orlando Dmitry A Ovchinnikov Arnab Pain Robert Passier Margaret Patrikakis Helena Persson Silvano Piazza James G D Prendergast Owen J L Rackham Jordan A Ramilowski Mamoon Rashid Timothy Ravasi Patrizia Rizzu Marco Roncador Sugata Roy Morten B Rye Eri Saijyo Antti Sajantila Akiko Saka Shimon Sakaguchi Mizuho Sakai Hiroki Sato Suzana Savvi Alka Saxena Claudio Schneider Erik A Schultes Gundula G Schulze-Tanzil Anita Schwegmann Thierry Sengstag Guojun Sheng Hisashi Shimoji Yishai Shimoni Jay W Shin Christophe Simon Daisuke Sugiyama Takaai Sugiyama Masanori Suzuki Naoko Suzuki Rolf K Swoboda Peter A C 't Hoen Michihira Tagami Naoko Takahashi Jun Takai Hiroshi Tanaka Hideki Tatsukawa Zuotian Tatum Mark Thompson Hiroo Toyodo Tetsuro Toyoda Elvind Valen Marc van de Wetering Linda M van den Berg Roberto Verado Dipti Vijayan Ilya E Vorontsov Wyeth W Wasserman Shoko Watanabe Christine A Wells Louise N Winteringham Ernst Wolvetang Emily J Wood Yoko Yamaguchi Masayuki Yamamoto Misako Yoneda Yohei Yonekura Shigehiro Yoshida Susan E Zabierowski Peter G Zhang Xiaobei Zhao Silvia Zucchelli Kim M Summers Harukazu Suzuki Carsten O Daub Jun Kawai Peter Heutink Winston Hide Tom C Freeman Boris Lenhard Vladimir B Bajic Martin S Taylor Vsevolod J Makeev Albin Sandelin David A Hume Piero Carninci Yoshihide Hayashizaki

Nature 2014 Mar;507(7493):462-70

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http://dx.doi.org/10.1038/nature13182DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4529748PMC
March 2014

Outpatient healthcare settings and transmission of Clostridium difficile.

PLoS One 2013 24;8(7):e70175. Epub 2013 Jul 24.

Geriatric Research Education and Clinical Center, Cleveland Veterans Affairs Medical Center, Cleveland, Ohio, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0070175PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722238PMC
February 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
Publisher Site
http://dx.doi.org/10.1038/bonekey.2013.190DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3909233PMC
February 2014

Population structure and genetic heterogeneity in popular dog breeds in the UK.

Vet J 2013 Apr 22;196(1):92-7. Epub 2012 Oct 22.

Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Easter Bush, Midlothian EH25 9RG, UK.

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http://dx.doi.org/10.1016/j.tvjl.2012.08.009DOI Listing
April 2013

Structure and function of the mammalian fibrillin gene family: implications for human connective tissue diseases.

Mol Genet Metab 2012 Dec 3;107(4):635-47. Epub 2012 Aug 3.

The Roslin Institute and Royal (Dick) School of Veterinary Studies, The University of Edinburgh, Easter Bush, Midlothian, EH25 9RG, UK.

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http://dx.doi.org/10.1016/j.ymgme.2012.07.023DOI Listing
December 2012

Recent developments in the diagnosis of Marfan syndrome and related disorders.

Med J Aust 2012 Nov;197(9):494-7

The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Edinburgh, UK.

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http://dx.doi.org/10.5694/mja12.10560DOI Listing
November 2012

Genome-wide analysis of mitral valve disease in Cavalier King Charles Spaniels.

Vet J 2012 Jul 2;193(1):283-6. Epub 2011 Nov 2.

Royal (Dick) School of Veterinary Studies, The University of Edinburgh, Easter Bush, Roslin, Midlothian EH25 9RG, UK.

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http://dx.doi.org/10.1016/j.tvjl.2011.09.011DOI Listing
July 2012

Molecular genetics of long QT syndrome.

Mol Genet Metab 2010 Sep 9;101(1):1-8. Epub 2010 Jun 9.

The University of Queensland, School of Chemistry and Molecular Biosciences, Brisbane, QLD, Australia.

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http://dx.doi.org/10.1016/j.ymgme.2010.05.011DOI Listing
September 2010

Mutations at KCNQ1 and an unknown locus cause long QT syndrome in a large Australian family: implications for genetic testing.

Am J Med Genet A 2010 Mar;152A(3):613-21

The Roslin Institute and Royal (Dick) School of Veterinary Studies, The University of Edinburgh, Midlothian, Scotland, UK.

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http://dx.doi.org/10.1002/ajmg.a.33274DOI Listing
March 2010

Experimental and bioinformatic characterisation of the promoter region of the Marfan syndrome gene, FBN1.

Genomics 2009 Oct 30;94(4):233-40. Epub 2009 Jun 30.

The University of Edinburgh, The Roslin Institute and Royal (Dick) School of Veterinary Studies, Roslin, Midlothian EH25 9PS, UK.

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http://dx.doi.org/10.1016/j.ygeno.2009.06.005DOI Listing
October 2009

Familial muscular ventricular septal defects and aneurysms of the muscular interventricular septum.

Cardiol Young 2007 Oct 18;17(5):523-7. Epub 2007 Jul 18.

Department of Cardiology, The Prince Charles Hospital, Brisbane, Australia.

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http://dx.doi.org/10.1017/S1047951107000996DOI Listing
October 2007

Challenges in the diagnosis of Marfan syndrome.

Med J Aust 2006 Jun;184(12):627-31

School of Molecular and Microbial Sciences, The University of Queensland, Brisbane, QLD, Australia.

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June 2006