Publications by authors named "Matthew M Hims"

12Publications

NxTrim: optimized trimming of Illumina mate pair reads.

Bioinformatics 2015 Jun 5;31(12):2035-7. Epub 2015 Feb 5.

Computational Biology Group and Technology Development, Illumina Cambridge Ltd., Chesterford Research Park, Little Chesterford, Essex CB10 1XL, UK.

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http://dx.doi.org/10.1093/bioinformatics/btv057DOI Listing
June 2015

Specific correction of a splice defect in brain by nutritional supplementation.

Hum Mol Genet 2011 Nov 5;20(21):4093-101. Epub 2011 Aug 5.

Center for Human Genetic Research, Massachusetts General Hospital and Harvard Medical School, 185 Cambridge Street, CPZN-5254, Boston, MA 02114, USA.

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http://dx.doi.org/10.1093/hmg/ddr333DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3188989PMC
November 2011

Loss of mouse Ikbkap, a subunit of elongator, leads to transcriptional deficits and embryonic lethality that can be rescued by human IKBKAP.

Mol Cell Biol 2009 Feb 17;29(3):736-44. Epub 2008 Nov 17.

Center for Human Genetic Research, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA. .

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http://dx.doi.org/10.1128/MCB.01313-08DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2630687PMC
February 2009

Accurate whole human genome sequencing using reversible terminator chemistry.

Authors:
David R Bentley Shankar Balasubramanian Harold P Swerdlow Geoffrey P Smith John Milton Clive G Brown Kevin P Hall Dirk J Evers Colin L Barnes Helen R Bignell Jonathan M Boutell Jason Bryant Richard J Carter R Keira Cheetham Anthony J Cox Darren J Ellis Michael R Flatbush Niall A Gormley Sean J Humphray Leslie J Irving Mirian S Karbelashvili Scott M Kirk Heng Li Xiaohai Liu Klaus S Maisinger Lisa J Murray Bojan Obradovic Tobias Ost Michael L Parkinson Mark R Pratt Isabelle M J Rasolonjatovo Mark T Reed Roberto Rigatti Chiara Rodighiero Mark T Ross Andrea Sabot Subramanian V Sankar Aylwyn Scally Gary P Schroth Mark E Smith Vincent P Smith Anastassia Spiridou Peta E Torrance Svilen S Tzonev Eric H Vermaas Klaudia Walter Xiaolin Wu Lu Zhang Mohammed D Alam Carole Anastasi Ify C Aniebo David M D Bailey Iain R Bancarz Saibal Banerjee Selena G Barbour Primo A Baybayan Vincent A Benoit Kevin F Benson Claire Bevis Phillip J Black Asha Boodhun Joe S Brennan John A Bridgham Rob C Brown Andrew A Brown Dale H Buermann Abass A Bundu James C Burrows Nigel P Carter Nestor Castillo Maria Chiara E Catenazzi Simon Chang R Neil Cooley Natasha R Crake Olubunmi O Dada Konstantinos D Diakoumakos Belen Dominguez-Fernandez David J Earnshaw Ugonna C Egbujor David W Elmore Sergey S Etchin Mark R Ewan Milan Fedurco Louise J Fraser Karin V Fuentes Fajardo W Scott Furey David George Kimberley J Gietzen Colin P Goddard George S Golda Philip A Granieri David E Green David L Gustafson Nancy F Hansen Kevin Harnish Christian D Haudenschild Narinder I Heyer Matthew M Hims Johnny T Ho Adrian M Horgan Katya Hoschler Steve Hurwitz Denis V Ivanov Maria Q Johnson Terena James T A Huw Jones Gyoung-Dong Kang Tzvetana H Kerelska Alan D Kersey Irina Khrebtukova Alex P Kindwall Zoya Kingsbury Paula I Kokko-Gonzales Anil Kumar Marc A Laurent Cynthia T Lawley Sarah E Lee Xavier Lee Arnold K Liao Jennifer A Loch Mitch Lok Shujun Luo Radhika M Mammen John W Martin Patrick G McCauley Paul McNitt Parul Mehta Keith W Moon Joe W Mullens Taksina Newington Zemin Ning Bee Ling Ng Sonia M Novo Michael J O'Neill Mark A Osborne Andrew Osnowski Omead Ostadan Lambros L Paraschos Lea Pickering Andrew C Pike Alger C Pike D Chris Pinkard Daniel P Pliskin Joe Podhasky Victor J Quijano Come Raczy Vicki H Rae Stephen R Rawlings Ana Chiva Rodriguez Phyllida M Roe John Rogers Maria C Rogert Bacigalupo Nikolai Romanov Anthony Romieu Rithy K Roth Natalie J Rourke Silke T Ruediger Eli Rusman Raquel M Sanches-Kuiper Martin R Schenker Josefina M Seoane Richard J Shaw Mitch K Shiver Steven W Short Ning L Sizto Johannes P Sluis Melanie A Smith Jean Ernest Sohna Sohna Eric J Spence Kim Stevens Neil Sutton Lukasz Szajkowski Carolyn L Tregidgo Gerardo Turcatti Stephanie Vandevondele Yuli Verhovsky Selene M Virk Suzanne Wakelin Gregory C Walcott Jingwen Wang Graham J Worsley Juying Yan Ling Yau Mike Zuerlein Jane Rogers James C Mullikin Matthew E Hurles Nick J McCooke John S West Frank L Oaks Peter L Lundberg David Klenerman Richard Durbin Anthony J Smith

Nature 2008 Nov;456(7218):53-9

Illumina Cambridge Ltd. (Formerly Solexa Ltd), Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK.

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http://dx.doi.org/10.1038/nature07517DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2581791PMC
November 2008

A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect.

Genomics 2007 Sep 17;90(3):389-96. Epub 2007 Jul 17.

Center for Human Genetic Research, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.

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http://dx.doi.org/10.1016/j.ygeno.2007.05.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1976430PMC
September 2007

Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia.

J Mol Med (Berl) 2007 Feb 6;85(2):149-61. Epub 2007 Jan 6.

Center for Human Genetic Research, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.

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http://dx.doi.org/10.1007/s00109-006-0137-2DOI Listing
February 2007

Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia.

Hum Mutat 2007 Jan;28(1):41-53

Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1002/humu.20401DOI Listing
January 2007

Rescue of a human mRNA splicing defect by the plant cytokinin kinetin.

Hum Mol Genet 2004 Feb 6;13(4):429-36. Epub 2004 Jan 6.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Charlestown, MA 02129, USA.

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http://dx.doi.org/10.1093/hmg/ddh046DOI Listing
February 2004