Claire L Simpson

Claire L Simpson

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Claire L Simpson

Claire L Simpson

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Small posterior fossa in Chiari I malformation affected families is significantly linked to 1q43-44 and 12q23-24.11 using whole exome sequencing.

Eur J Hum Genet 2019 Oct 21;27(10):1599-1610. Epub 2019 Jun 21.

Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1038/s41431-019-0457-7DOI Listing
October 2019

Genome-wide scans of myopia in Pennsylvania Amish families reveal significant linkage to 12q15, 8q21.3 and 5p15.33.

Hum Genet 2019 Apr 2;138(4):339-354. Epub 2019 Mar 2.

Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, 333 Cassell Dr, Suite 1200, Baltimore, MD, 21224, USA.

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http://dx.doi.org/10.1007/s00439-019-01991-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6486401PMC
April 2019

The genetic dissection of gene expression in the retinas of BXD mice.

Mol Vis 2018 2;24:115-126. Epub 2018 Feb 2.

Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5802760PMC
November 2018

Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error.

Authors:
Milly S Tedja Robert Wojciechowski Pirro G Hysi Nicholas Eriksson Nicholas A Furlotte Virginie J M Verhoeven Adriana I Iglesias Magda A Meester-Smoor Stuart W Tompson Qiao Fan Anthony P Khawaja Ching-Yu Cheng René Höhn Kenji Yamashiro Adam Wenocur Clare Grazal Toomas Haller Andres Metspalu Juho Wedenoja Jost B Jonas Ya Xing Wang Jing Xie Paul Mitchell Paul J Foster Barbara E K Klein Ronald Klein Andrew D Paterson S Mohsen Hosseini Rupal L Shah Cathy Williams Yik Ying Teo Yih Chung Tham Preeti Gupta Wanting Zhao Yuan Shi Woei-Yuh Saw E-Shyong Tai Xue Ling Sim Jennifer E Huffman Ozren Polašek Caroline Hayward Goran Bencic Igor Rudan James F Wilson Peter K Joshi Akitaka Tsujikawa Fumihiko Matsuda Kristina N Whisenhunt Tanja Zeller Peter J van der Spek Roxanna Haak Hanne Meijers-Heijboer Elisabeth M van Leeuwen Sudha K Iyengar Jonathan H Lass Albert Hofman Fernando Rivadeneira André G Uitterlinden Johannes R Vingerling Terho Lehtimäki Olli T Raitakari Ginevra Biino Maria Pina Concas Tae-Hwi Schwantes-An Robert P Igo Gabriel Cuellar-Partida Nicholas G Martin Jamie E Craig Puya Gharahkhani Katie M Williams Abhishek Nag Jugnoo S Rahi Phillippa M Cumberland Cécile Delcourt Céline Bellenguez Janina S Ried Arthur A Bergen Thomas Meitinger Christian Gieger Tien Yin Wong Alex W Hewitt David A Mackey Claire L Simpson Norbert Pfeiffer Olavi Pärssinen Paul N Baird Veronique Vitart Najaf Amin Cornelia M van Duijn Joan E Bailey-Wilson Terri L Young Seang-Mei Saw Dwight Stambolian Stuart MacGregor Jeremy A Guggenheim Joyce Y Tung Christopher J Hammond Caroline C W Klaver

Nat Genet 2018 06 28;50(6):834-848. Epub 2018 May 28.

Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands.

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http://www.nature.com/articles/s41588-018-0127-7
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http://dx.doi.org/10.1038/s41588-018-0127-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5980758PMC
June 2018

Caucasian Families Exhibit Significant Linkage of Myopia to Chromosome 11p.

Invest Ophthalmol Vis Sci 2017 07;58(9):3547-3554

Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, Maryland, United States.

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http://dx.doi.org/10.1167/iovs.16-21271DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5510992PMC
July 2017

Reply.

Gastroenterology 2017 06 5;152(8):2083-2084. Epub 2017 May 5.

Department of Pediatrics and Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia.

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http://dx.doi.org/10.1053/j.gastro.2017.05.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6492261PMC
June 2017

Genome-Wide Association Study Identifies African-Specific Susceptibility Loci in African Americans With Inflammatory Bowel Disease.

Gastroenterology 2017 01 28;152(1):206-217.e2. Epub 2016 Sep 28.

Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia. Electronic address:

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http://dx.doi.org/10.1053/j.gastro.2016.09.032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5164948PMC
January 2017

Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error.

Authors:
Qiao Fan Virginie J M Verhoeven Robert Wojciechowski Veluchamy A Barathi Pirro G Hysi Jeremy A Guggenheim René Höhn Veronique Vitart Anthony P Khawaja Kenji Yamashiro S Mohsen Hosseini Terho Lehtimäki Yi Lu Toomas Haller Jing Xie Cécile Delcourt Mario Pirastu Juho Wedenoja Puya Gharahkhani Cristina Venturini Masahiro Miyake Alex W Hewitt Xiaobo Guo Johanna Mazur Jenifer E Huffman Katie M Williams Ozren Polasek Harry Campbell Igor Rudan Zoran Vatavuk James F Wilson Peter K Joshi George McMahon Beate St Pourcain David M Evans Claire L Simpson Tae-Hwi Schwantes-An Robert P Igo Alireza Mirshahi Audrey Cougnard-Gregoire Céline Bellenguez Maria Blettner Olli Raitakari Mika Kähönen Ilkka Seppala Tanja Zeller Thomas Meitinger Janina S Ried Christian Gieger Laura Portas Elisabeth M van Leeuwen Najaf Amin André G Uitterlinden Fernando Rivadeneira Albert Hofman Johannes R Vingerling Ya Xing Wang Xu Wang Eileen Tai-Hui Boh M Kamran Ikram Charumathi Sabanayagam Preeti Gupta Vincent Tan Lei Zhou Candice E H Ho Wan'e Lim Roger W Beuerman Rosalynn Siantar E-Shyong Tai Eranga Vithana Evelin Mihailov Chiea-Chuen Khor Caroline Hayward Robert N Luben Paul J Foster Barbara E K Klein Ronald Klein Hoi-Suen Wong Paul Mitchell Andres Metspalu Tin Aung Terri L Young Mingguang He Olavi Pärssinen Cornelia M van Duijn Jie Jin Wang Cathy Williams Jost B Jonas Yik-Ying Teo David A Mackey Konrad Oexle Nagahisa Yoshimura Andrew D Paterson Norbert Pfeiffer Tien-Yin Wong Paul N Baird Dwight Stambolian Joan E Bailey Wilson Ching-Yu Cheng Christopher J Hammond Caroline C W Klaver Seang-Mei Saw Jugnoo S Rahi Jean-François Korobelnik John P Kemp Nicholas J Timpson George Davey Smith Jamie E Craig Kathryn P Burdon Rhys D Fogarty Sudha K Iyengar Emily Chew Sarayut Janmahasatian Nicholas G Martin Stuart MacGregor Liang Xu Maria Schache Vinay Nangia Songhomitra Panda-Jonas Alan F Wright Jeremy R Fondran Jonathan H Lass Sheng Feng Jing Hua Zhao Kay-Tee Khaw Nick J Wareham Taina Rantanen Jaakko Kaprio Chi Pui Pang Li Jia Chen Pancy O Tam Vishal Jhanji Alvin L Young Angela Döring Leslie J Raffel Mary-Frances Cotch Xiaohui Li Shea Ping Yip Maurice K H Yap Ginevra Biino Simona Vaccargiu Maurizio Fossarello Brian Fleck Seyhan Yazar Jan Willem L Tideman Milly Tedja Margaret M Deangelis Margaux Morrison Lindsay Farrer Xiangtian Zhou Wei Chen Nobuhisa Mizuki Akira Meguro Kari Matti Mäkelä

Nat Commun 2016 Mar 29;7:11008. Epub 2016 Mar 29.

Department of Ophthalmology, Erasmus Medical Center, 3000 CA Rotterdam, The Netherlands.

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http://dx.doi.org/10.1038/ncomms11008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4820539PMC
March 2016

Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.

Hum Genet 2015 Feb 4;134(2):131-46. Epub 2014 Nov 4.

National Human Genome Research Institute, National Institutes of Health, 333 Cassell Drive Suite 1200, Baltimore, MD, 21224, USA.

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http://dx.doi.org/10.1007/s00439-014-1500-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4291519PMC
February 2015

False-positive rates in two-point parametric linkage analysis.

BMC Proc 2014 17;8(Suppl 1 Genetic Analysis Workshop 18Vanessa Olmo):S110. Epub 2014 Jun 17.

Statistical Genetics Section, Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, 333 Cassell Drive, Suite 1200, Baltimore, MD 21224, USA.

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http://dx.doi.org/10.1186/1753-6561-8-S1-S110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4143621PMC
December 2014

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

Regional replication of association with refractive error on 15q14 and 15q25 in the Age-Related Eye Disease Study cohort.

Mol Vis 2013 2;19:2173-86. Epub 2013 Nov 2.

Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3826323PMC
March 2014

Genetic ablation of phospholipase C delta 1 increases survival in SOD1(G93A) mice.

Neurobiol Dis 2013 Dec 19;60:11-7. Epub 2013 Aug 19.

Laboratory of Neurobiology, Belgium; Leuven Research Institute of Neuroscience and Disease (LIND), KU Leuven, Belgium; Vesalius Research Center, VIB, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2013.08.006DOI Listing
December 2013

Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.

Authors:
Ching-Yu Cheng Maria Schache M Kamran Ikram Terri L Young Jeremy A Guggenheim Veronique Vitart Stuart MacGregor Virginie J M Verhoeven Veluchamy A Barathi Jiemin Liao Pirro G Hysi Joan E Bailey-Wilson Beate St Pourcain John P Kemp George McMahon Nicholas J Timpson David M Evans Grant W Montgomery Aniket Mishra Ya Xing Wang Jie Jin Wang Elena Rochtchina Ozren Polasek Alan F Wright Najaf Amin Elisabeth M van Leeuwen James F Wilson Craig E Pennell Cornelia M van Duijn Paulus T V M de Jong Johannes R Vingerling Xin Zhou Peng Chen Ruoying Li Wan-Ting Tay Yingfeng Zheng Merwyn Chew Kathryn P Burdon Jamie E Craig Sudha K Iyengar Robert P Igo Jonathan H Lass Emily Y Chew Toomas Haller Evelin Mihailov Andres Metspalu Juho Wedenoja Claire L Simpson Robert Wojciechowski René Höhn Alireza Mirshahi Tanja Zeller Norbert Pfeiffer Karl J Lackner Thomas Bettecken Thomas Meitinger Konrad Oexle Mario Pirastu Laura Portas Abhishek Nag Katie M Williams Ekaterina Yonova-Doing Ronald Klein Barbara E Klein S Mohsen Hosseini Andrew D Paterson Kari-Matti Makela Terho Lehtimaki Mika Kahonen Olli Raitakari Nagahisa Yoshimura Fumihiko Matsuda Li Jia Chen Chi Pui Pang Shea Ping Yip Maurice K H Yap Akira Meguro Nobuhisa Mizuki Hidetoshi Inoko Paul J Foster Jing Hua Zhao Eranga Vithana E-Shyong Tai Qiao Fan Liang Xu Harry Campbell Brian Fleck Igor Rudan Tin Aung Albert Hofman André G Uitterlinden Goran Bencic Chiea-Chuen Khor Hannah Forward Olavi Pärssinen Paul Mitchell Fernando Rivadeneira Alex W Hewitt Cathy Williams Ben A Oostra Yik-Ying Teo Christopher J Hammond Dwight Stambolian David A Mackey Caroline C W Klaver Tien-Yin Wong Seang-Mei Saw Paul N Baird

Am J Hum Genet 2013 Aug;93(2):264-77

Department of Ophthalmology, National University of Singapore and National University Health System, Singapore 119228, Singapore; Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore 117597, Singapore; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore 168751, Singapore; Centre for Quantitative Medicine, Office of Clinical Sciences, Duke-National University of Singapore Graduate Medical School, Singapore 169857, Singapore.

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http://dx.doi.org/10.1016/j.ajhg.2013.06.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3772747PMC
August 2013

Genetic heterogeneity in Finnish hereditary prostate cancer using ordered subset analysis.

Eur J Hum Genet 2013 Apr 5;21(4):437-43. Epub 2012 Sep 5.

Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD, USA.

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http://dx.doi.org/10.1038/ejhg.2012.185DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3598326PMC
April 2013

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.

Authors:
Virginie J M Verhoeven Pirro G Hysi Robert Wojciechowski Qiao Fan Jeremy A Guggenheim René Höhn Stuart MacGregor Alex W Hewitt Abhishek Nag Ching-Yu Cheng Ekaterina Yonova-Doing Xin Zhou M Kamran Ikram Gabriëlle H S Buitendijk George McMahon John P Kemp Beate St Pourcain Claire L Simpson Kari-Matti Mäkelä Terho Lehtimäki Mika Kähönen Andrew D Paterson S Mohsen Hosseini Hoi Suen Wong Liang Xu Jost B Jonas Olavi Pärssinen Juho Wedenoja Shea Ping Yip Daniel W H Ho Chi Pui Pang Li Jia Chen Kathryn P Burdon Jamie E Craig Barbara E K Klein Ronald Klein Toomas Haller Andres Metspalu Chiea-Chuen Khor E-Shyong Tai Tin Aung Eranga Vithana Wan-Ting Tay Veluchamy A Barathi Peng Chen Ruoying Li Jiemin Liao Yingfeng Zheng Rick T Ong Angela Döring David M Evans Nicholas J Timpson Annemieke J M H Verkerk Thomas Meitinger Olli Raitakari Felicia Hawthorne Tim D Spector Lennart C Karssen Mario Pirastu Federico Murgia Wei Ang Aniket Mishra Grant W Montgomery Craig E Pennell Phillippa M Cumberland Ioana Cotlarciuc Paul Mitchell Jie Jin Wang Maria Schache Sarayut Janmahasatian Sarayut Janmahasathian Robert P Igo Jonathan H Lass Emily Chew Sudha K Iyengar Theo G M F Gorgels Igor Rudan Caroline Hayward Alan F Wright Ozren Polasek Zoran Vatavuk James F Wilson Brian Fleck Tanja Zeller Alireza Mirshahi Christian Müller André G Uitterlinden Fernando Rivadeneira Johannes R Vingerling Albert Hofman Ben A Oostra Najaf Amin Arthur A B Bergen Yik-Ying Teo Jugnoo S Rahi Veronique Vitart Cathy Williams Paul N Baird Tien-Yin Wong Konrad Oexle Norbert Pfeiffer David A Mackey Terri L Young Cornelia M van Duijn Seang-Mei Saw Joan E Bailey-Wilson Dwight Stambolian Caroline C Klaver Christopher J Hammond

Nat Genet 2013 Mar 10;45(3):314-8. Epub 2013 Feb 10.

Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1038/ng.2554DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3740568PMC
March 2013

Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium.

Authors:
Virginie J M Verhoeven Pirro G Hysi Seang-Mei Saw Veronique Vitart Alireza Mirshahi Jeremy A Guggenheim Mary Frances Cotch Kenji Yamashiro Paul N Baird David A Mackey Robert Wojciechowski M Kamran Ikram Alex W Hewitt Priya Duggal Sarayut Janmahasatian Chiea-Chuen Khor Qiao Fan Xin Zhou Terri L Young E-Shyong Tai Liang-Kee Goh Yi-Ju Li Tin Aung Eranga Vithana Yik-Ying Teo Wanting Tay Xueling Sim Igor Rudan Caroline Hayward Alan F Wright Ozren Polasek Harry Campbell James F Wilson Brian W Fleck Isao Nakata Nagahisa Yoshimura Ryo Yamada Fumihiko Matsuda Kyoko Ohno-Matsui Abhishek Nag George McMahon Beate St Pourcain Yi Lu Jugnoo S Rahi Phillippa M Cumberland Shomi Bhattacharya Claire L Simpson Larry D Atwood Xiaohui Li Leslie J Raffel Federico Murgia Laura Portas Dominiek D G Despriet Leonieke M E van Koolwijk Christian Wolfram Karl J Lackner Anke Tönjes Reedik Mägi Terho Lehtimäki Mika Kähönen Tõnu Esko Andres Metspalu Taina Rantanen Olavi Pärssinen Barbara E Klein Thomas Meitinger Timothy D Spector Ben A Oostra Albert V Smith Paulus T V M de Jong Albert Hofman Najaf Amin Lennart C Karssen Fernando Rivadeneira Johannes R Vingerling Guðný Eiríksdóttir Vilmundur Gudnason Angela Döring Thomas Bettecken André G Uitterlinden Cathy Williams Tanja Zeller Raphaële Castagné Konrad Oexle Cornelia M van Duijn Sudha K Iyengar Paul Mitchell Jie Jin Wang René Höhn Norbert Pfeiffer Joan E Bailey-Wilson Dwight Stambolian Tien-Yin Wong Christopher J Hammond Caroline C W Klaver

Hum Genet 2012 Sep 5;131(9):1467-80. Epub 2012 Jun 5.

Department of Ophthalmology, Erasmus Medical Center, 3000 CA Rotterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00439-012-1176-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3418496PMC
September 2012

Common polymorphisms in the SERPINI2 gene are associated with refractive error in the 1958 British Birth Cohort.

Invest Ophthalmol Vis Sci 2012 Jan 25;53(1):440-7. Epub 2012 Jan 25.

MRC Centre of Epidemiology for Child Health, Institute of Child Health, University College London, London, United Kingdom.

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http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.1
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http://dx.doi.org/10.1167/iovs.10-5640DOI Listing
January 2012

Dissecting the genetic heterogeneity of myopia susceptibility in an Ashkenazi Jewish population using ordered subset analysis.

Mol Vis 2011 17;17:1641-51. Epub 2011 Jun 17.

1nherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD 21224, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3123157PMC
November 2011

Old lessons learned anew: family-based methods for detecting genes responsible for quantitative and qualitative traits in the Genetic Analysis Workshop 17 mini-exome sequence data.

BMC Proc 2011 Nov 29;5 Suppl 9:S83. Epub 2011 Nov 29.

Statistical Genetics Section, Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, 31 Center Drive, 333 Cassell Drive Suite 1200, Baltimore, MD 21224, USA.

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http://dx.doi.org/10.1186/1753-6561-5-S9-S83DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3287924PMC
November 2011

Performance of random forests and logic regression methods using mini-exome sequence data.

BMC Proc 2011 Nov 29;5 Suppl 9:S104. Epub 2011 Nov 29.

Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD 21224, USA.

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http://dx.doi.org/10.1186/1753-6561-5-S9-S104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3287827PMC
November 2011

Comparison of results from tests of association in unrelated individuals with uncollapsed and collapsed sequence variants using tiled regression.

BMC Proc 2011 Nov 29;5 Suppl 9:S15. Epub 2011 Nov 29.

Genometrics Section, Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, 333 Cassell Drive, Baltimore, MD 21224, USA.

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http://bmcproc.biomedcentral.com/articles/10.1186/1753-6561-
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http://dx.doi.org/10.1186/1753-6561-5-S9-S15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3287849PMC
November 2011

The Roles of PAX6 and SOX2 in Myopia: lessons from the 1958 British Birth Cohort.

Invest Ophthalmol Vis Sci 2007 Oct;48(10):4421-5

MRC Centre of Epidemiology for Child Health, Institute of Child Health, University College London, London, United Kingdom.

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http://dx.doi.org/10.1167/iovs.07-0231DOI Listing
October 2007

Amyotrophic lateral sclerosis as a complex genetic disease.

Biochim Biophys Acta 2006 Nov-Dec;1762(11-12):973-85. Epub 2006 Aug 5.

MRC Centre for Neurodegeneration Research P 043, King's College London, Institute of Psychiatry, London SE5 8AF, UK.

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http://dx.doi.org/10.1016/j.bbadis.2006.08.001DOI Listing
January 2007

MaGIC: a program to generate targeted marker sets for genome-wide association studies.

Biotechniques 2004 Dec;37(6):996-9

Institute of Psychiatry, Kings College London, London, UK.

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http://dx.doi.org/10.2144/04376BIN03DOI Listing
December 2004