Publications by authors named "Gareth R Howell"

59Publications

Endothelin 1-induced retinal ganglion cell death is largely mediated by JUN activation.

Cell Death Dis 2020 Sep 26;11(9):811. Epub 2020 Sep 26.

Department of Ophthalmology, Flaum Eye Institute, University of Rochester Medical Center, Rochester, NY, USA.

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http://dx.doi.org/10.1038/s41419-020-02990-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7519907PMC
September 2020

Transcriptional profiling predicts running promotes cerebrovascular remodeling in young but not midlife mice.

BMC Genomics 2019 Nov 14;20(1):860. Epub 2019 Nov 14.

The Jackson Laboratory, 600 Main Street, Bar Harbor, ME, 04609, USA.

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http://dx.doi.org/10.1186/s12864-019-6230-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6854620PMC
November 2019

What are the earlier life contributions to reserve and resilience?

Neurobiol Aging 2019 11 30;83:135-139. Epub 2019 Apr 30.

Institute for Brain Aging and Dementia, University of California, Irvine, CA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2019.04.014DOI Listing
November 2019

Vascular Inflammation Risk Factors in Retinal Disease.

Annu Rev Vis Sci 2019 09 21;5:99-122. Epub 2019 Jun 21.

The Jackson Laboratory, Bar Harbor, Maine 04609, USA; email:

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http://dx.doi.org/10.1146/annurev-vision-091517-034416DOI Listing
September 2019

Exercise prevents obesity-induced cognitive decline and white matter damage in mice.

Neurobiol Aging 2019 08 3;80:154-172. Epub 2019 May 3.

The Jackson Laboratory, Bar Harbor, ME, USA; Sackler School of Graduate Biomedical Sciences, Tufts University School of Medicine, Boston, MA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2019.03.018DOI Listing
August 2019

Neuroinflammation in glaucoma: A new opportunity.

Exp Eye Res 2017 04 24;157:20-27. Epub 2017 Feb 24.

The Jackson Laboratory, Bar Harbor, ME, USA; Graduate Program of Genetics, Sackler School of Graduate Biomedical Sciences, Tufts University, Boston, MA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.exer.2017.02.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5497582PMC
April 2017

Meox2 haploinsufficiency increases neuronal cell loss in a mouse model of Alzheimer's disease.

Neurobiol Aging 2016 06 2;42:50-60. Epub 2016 Mar 2.

The Jackson Laboratory, Bar Harbor, ME, USA; Graduate Program in Genetics, Sackler School of Graduate Biomedical Sciences, Tufts University, Boston, MA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2016.02.025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4878023PMC
June 2016

Toward more predictive genetic mouse models of Alzheimer's disease.

Brain Res Bull 2016 Apr 17;122:1-11. Epub 2015 Dec 17.

The Jackson Laboratory, Bar Harbor, ME, United States. Electronic address:

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http://dx.doi.org/10.1016/j.brainresbull.2015.12.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4843786PMC
April 2016

Synapse Loss and Dendrite Remodeling in a Mouse Model of Glaucoma.

PLoS One 2015 4;10(12):e0144341. Epub 2015 Dec 4.

Harvard Medical School, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0144341PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4670161PMC
June 2016

APOE Stabilization by Exercise Prevents Aging Neurovascular Dysfunction and Complement Induction.

PLoS Biol 2015 Oct 29;13(10):e1002279. Epub 2015 Oct 29.

The Jackson Laboratory, Bar Harbor, Maine, United States of America; Sackler School of Graduate Biomedical Sciences, Tufts University, Boston, Massachusetts, United States of America.

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http://dx.doi.org/10.1371/journal.pbio.1002279DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4626092PMC
October 2015

Using genetic mouse models to gain insight into glaucoma: Past results and future possibilities.

Exp Eye Res 2015 Dec 24;141:42-56. Epub 2015 Jun 24.

Flaum Eye Institute, University of Rochester Medical Center, Rochester, NY, USA; Department of Biomedical Genetics, University of Rochester Medical Center, Rochester, NY, USA. Electronic address:

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http://dx.doi.org/10.1016/j.exer.2015.06.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4628898PMC
December 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

TREM2 deficiency eliminates TREM2+ inflammatory macrophages and ameliorates pathology in Alzheimer's disease mouse models.

J Exp Med 2015 Mar 2;212(3):287-95. Epub 2015 Mar 2.

The Lerner Research Institute and Lou Ruvo Center for Brain Health, Cleveland Clinic, Cleveland, OH 44195 The Lerner Research Institute and Lou Ruvo Center for Brain Health, Cleveland Clinic, Cleveland, OH 44195 Case Western Reserve University, Cleveland, OH 44106

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http://dx.doi.org/10.1084/jem.20142322DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4354365PMC
March 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

DBA/2J mice are susceptible to diabetic nephropathy and diabetic exacerbation of IOP elevation.

PLoS One 2014 10;9(9):e107291. Epub 2014 Sep 10.

The Jackson Laboratory, Bar Harbor, Maine, United States of America; The Howard Hughes Medical Institute, Bar Harbor, Maine, United States of America; Department of Ophthalmology, Tufts University of Medicine, Boston, Massachusetts, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0107291PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4160242PMC
March 2016

Combinatorial targeting of early pathways profoundly inhibits neurodegeneration in a mouse model of glaucoma.

Neurobiol Dis 2014 Nov 15;71:44-52. Epub 2014 Aug 15.

The Jackson Laboratory, 600 Main Street, Bar Harbor, ME, USA; The Howard Hughes Medical Institute, The Jackson Laboratory, 600 Main Street, Bar Harbor, ME, USA; Department of Ophthalmology, Tufts University School of Medicine, Boston, MA, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09699961140023
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http://dx.doi.org/10.1016/j.nbd.2014.07.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4319373PMC
November 2014

The complex role of neuroinflammation in glaucoma.

Cold Spring Harb Perspect Med 2014 Jul 3;4(8). Epub 2014 Jul 3.

The Jackson Laboratory, Bar Harbor, Maine 04609 School of Medicine, Tufts University, Boston, Massachusetts 02111.

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http://dx.doi.org/10.1101/cshperspect.a017269DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4109578PMC
July 2014

Retinal ganglion cell dendritic atrophy in DBA/2J glaucoma.

PLoS One 2013 19;8(8):e72282. Epub 2013 Aug 19.

School of Optometry and Vision Sciences, Cardiff University, Cardiff, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0072282PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3747092PMC
January 2015

Deficiency of complement component 5 ameliorates glaucoma in DBA/2J mice.

J Neuroinflammation 2013 Jun 27;10:76. Epub 2013 Jun 27.

The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine, USA.

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http://dx.doi.org/10.1186/1742-2094-10-76DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3708765PMC
June 2013

Adding metabolomics to the toolbox for studying retinal disease.

Invest Ophthalmol Vis Sci 2013 Jun 21;54(6):4260. Epub 2013 Jun 21.

The Jackson Laboratory, Bar Harbor, Maine, USA.

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http://dx.doi.org/10.1167/iovs.13-12479DOI Listing
June 2013

High throughput sequencing approaches to mutation discovery in the mouse.

Mamm Genome 2012 Oct 19;23(9-10):499-513. Epub 2012 Sep 19.

MRC Harwell, Harwell Science and Innovation Campus, Oxfordshire OX11 0RD, UK.

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http://dx.doi.org/10.1007/s00335-012-9424-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3724459PMC
October 2012

Under pressure: cellular and molecular responses during glaucoma, a common neurodegeneration with axonopathy.

Annu Rev Neurosci 2012 12;35:153-79. Epub 2012 Apr 12.

Department of Ophthalmology and Visual Sciences, University of Wisconsin, Madison, Wisconsin 53706, USA.

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http://dx.doi.org/10.1146/annurev.neuro.051508.135728DOI Listing
November 2012

Intrinsic axonal degeneration pathways are critical for glaucomatous damage.

Exp Neurol 2013 Aug 18;246:54-61. Epub 2012 Jan 18.

The Howard Hughes Medical Institute, The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA.

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http://dx.doi.org/10.1016/j.expneurol.2012.01.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3831512PMC
August 2013

Mouse genetic models: an ideal system for understanding glaucomatous neurodegeneration and neuroprotection.

Prog Brain Res 2008 ;173:303-21

The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA.

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http://dx.doi.org/10.1016/S0079-6123(08)01122-9DOI Listing
March 2009

Transgenic rescue of the mouse t complex haplolethal locus Thl1.

Mamm Genome 2005 Nov 11;16(11):838-46. Epub 2005 Nov 11.

The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine 04660, USA.

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http://dx.doi.org/10.1007/s00335-005-0045-8DOI Listing
November 2005

Identification of a cryptic lethal mutation in the mouse t(w73) haplotype.

Genet Res 2004 Dec;84(3):153-9

The Jackson Laboratory, Bar Harbor, Maine 04609, USA.

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http://dx.doi.org/10.1017/s0016672304007219DOI Listing
December 2004

The DNA sequence of the human X chromosome.

Authors:
Mark T Ross Darren V Grafham Alison J Coffey Steven Scherer Kirsten McLay Donna Muzny Matthias Platzer Gareth R Howell Christine Burrows Christine P Bird Adam Frankish Frances L Lovell Kevin L Howe Jennifer L Ashurst Robert S Fulton Ralf Sudbrak Gaiping Wen Matthew C Jones Matthew E Hurles T Daniel Andrews Carol E Scott Stephen Searle Juliane Ramser Adam Whittaker Rebecca Deadman Nigel P Carter Sarah E Hunt Rui Chen Andrew Cree Preethi Gunaratne Paul Havlak Anne Hodgson Michael L Metzker Stephen Richards Graham Scott David Steffen Erica Sodergren David A Wheeler Kim C Worley Rachael Ainscough Kerrie D Ambrose M Ali Ansari-Lari Swaroop Aradhya Robert I S Ashwell Anne K Babbage Claire L Bagguley Andrea Ballabio Ruby Banerjee Gary E Barker Karen F Barlow Ian P Barrett Karen N Bates David M Beare Helen Beasley Oliver Beasley Alfred Beck Graeme Bethel Karin Blechschmidt Nicola Brady Sarah Bray-Allen Anne M Bridgeman Andrew J Brown Mary J Brown David Bonnin Elspeth A Bruford Christian Buhay Paula Burch Deborah Burford Joanne Burgess Wayne Burrill John Burton Jackie M Bye Carol Carder Laura Carrel Joseph Chako Joanne C Chapman Dean Chavez Ellson Chen Guan Chen Yuan Chen Zhijian Chen Craig Chinault Alfredo Ciccodicola Sue Y Clark Graham Clarke Chris M Clee Sheila Clegg Kerstin Clerc-Blankenburg Karen Clifford Vicky Cobley Charlotte G Cole Jen S Conquer Nicole Corby Richard E Connor Robert David Joy Davies Clay Davis John Davis Oliver Delgado Denise Deshazo Pawandeep Dhami Yan Ding Huyen Dinh Steve Dodsworth Heather Draper Shannon Dugan-Rocha Andrew Dunham Matthew Dunn K James Durbin Ireena Dutta Tamsin Eades Matthew Ellwood Alexandra Emery-Cohen Helen Errington Kathryn L Evans Louisa Faulkner Fiona Francis John Frankland Audrey E Fraser Petra Galgoczy James Gilbert Rachel Gill Gernot Glöckner Simon G Gregory Susan Gribble Coline Griffiths Russell Grocock Yanghong Gu Rhian Gwilliam Cerissa Hamilton Elizabeth A Hart Alicia Hawes Paul D Heath Katja Heitmann Steffen Hennig Judith Hernandez Bernd Hinzmann Sarah Ho Michael Hoffs Phillip J Howden Elizabeth J Huckle Jennifer Hume Paul J Hunt Adrienne R Hunt Judith Isherwood Leni Jacob David Johnson Sally Jones Pieter J de Jong Shirin S Joseph Stephen Keenan Susan Kelly Joanne K Kershaw Ziad Khan Petra Kioschis Sven Klages Andrew J Knights Anna Kosiura Christie Kovar-Smith Gavin K Laird Cordelia Langford Stephanie Lawlor Margaret Leversha Lora Lewis Wen Liu Christine Lloyd David M Lloyd Hermela Loulseged Jane E Loveland Jamieson D Lovell Ryan Lozado Jing Lu Rachael Lyne Jie Ma Manjula Maheshwari Lucy H Matthews Jennifer McDowall Stuart McLaren Amanda McMurray Patrick Meidl Thomas Meitinger Sarah Milne George Miner Shailesh L Mistry Margaret Morgan Sidney Morris Ines Müller James C Mullikin Ngoc Nguyen Gabriele Nordsiek Gerald Nyakatura Christopher N O'Dell Geoffery Okwuonu Sophie Palmer Richard Pandian David Parker Julia Parrish Shiran Pasternak Dina Patel Alex V Pearce Danita M Pearson Sarah E Pelan Lesette Perez Keith M Porter Yvonne Ramsey Kathrin Reichwald Susan Rhodes Kerry A Ridler David Schlessinger Mary G Schueler Harminder K Sehra Charles Shaw-Smith Hua Shen Elizabeth M Sheridan Ratna Shownkeen Carl D Skuce Michelle L Smith Elizabeth C Sotheran Helen E Steingruber Charles A Steward Roy Storey R Mark Swann David Swarbreck Paul E Tabor Stefan Taudien Tineace Taylor Brian Teague Karen Thomas Andrea Thorpe Kirsten Timms Alan Tracey Steve Trevanion Anthony C Tromans Michele d'Urso Daniel Verduzco Donna Villasana Lenee Waldron Melanie Wall Qiaoyan Wang James Warren Georgina L Warry Xuehong Wei Anthony West Siobhan L Whitehead Mathew N Whiteley Jane E Wilkinson David L Willey Gabrielle Williams Leanne Williams Angela Williamson Helen Williamson Laurens Wilming Rebecca L Woodmansey Paul W Wray Jennifer Yen Jingkun Zhang Jianling Zhou Huda Zoghbi Sara Zorilla David Buck Richard Reinhardt Annemarie Poustka André Rosenthal Hans Lehrach Alfons Meindl Patrick J Minx Ladeana W Hillier Huntington F Willard Richard K Wilson Robert H Waterston Catherine M Rice Mark Vaudin Alan Coulson David L Nelson George Weinstock John E Sulston Richard Durbin Tim Hubbard Richard A Gibbs Stephan Beck Jane Rogers David R Bentley

Nature 2005 Mar;434(7031):325-37

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

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http://www.genenames.org/sites/genenames.org/files/documents
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http://www.nature.com/doifinder/10.1038/nature03440
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http://dx.doi.org/10.1038/nature03440DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2665286PMC
March 2005

A candidate gene for congenital bilateral isolated ptosis identified by molecular analysis of a de novo balanced translocation.

Hum Genet 2002 Mar 1;110(3):244-50. Epub 2002 Feb 1.

Southampton University School of Medicine, Human Genetics Division, Southampton General Hospital, Southampton SO16 6YD, UK.

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http://dx.doi.org/10.1007/s00439-002-0679-5DOI Listing
March 2002