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Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.
Nat Genet. 2015 Jan;47(1):73-7. doi: 10.1038/ng.3153. Epub 2014 Nov 24.
Nat Genet. 2015.
PMID: 25420144
Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.
Simons C, Rash LD, Crawford J, Ma L, Cristofori-Armstrong B, Miller D, Ru K, Baillie GJ, Alanay Y, Jacquinet A, Debray FG, Verloes A, Shen J, Yesil G, Guler S, Yuksel A, Cleary JG, Grimmond SM, McGaughran J, King GF, Gabbett MT, Taft RJ.
Simons C, et al. Among authors: cleary jg.
Nat Genet. 2015 Mar;47(3):304. doi: 10.1038/ng0315-304b.
Nat Genet. 2015.
PMID: 25711872
No abstract available.
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Joint variant and de novo mutation identification on pedigrees from high-throughput sequencing data.
Cleary JG, Braithwaite R, Gaastra K, Hilbush BS, Inglis S, Irvine SA, Jackson A, Littin R, Nohzadeh-Malakshah S, Rathod M, Ware D, Trigg L, De La Vega FM.
Cleary JG, et al.
J Comput Biol. 2014 Jun;21(6):405-19. doi: 10.1089/cmb.2014.0029.
J Comput Biol. 2014.
PMID: 24874280
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Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing.
Reumers J, De Rijk P, Zhao H, Liekens A, Smeets D, Cleary J, Van Loo P, Van Den Bossche M, Catthoor K, Sabbe B, Despierre E, Vergote I, Hilbush B, Lambrechts D, Del-Favero J.
Reumers J, et al.
Nat Biotechnol. 2011 Dec 18;30(1):61-8. doi: 10.1038/nbt.2053.
Nat Biotechnol. 2011.
PMID: 22178994
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AZuRE, a scalable system for automated term disambiguation of gene and protein names.
Podowski RM, Cleary JG, Goncharoff NT, Amoutzias G, Hayes WS.
Podowski RM, et al. Among authors: cleary jg.
Proc IEEE Comput Syst Bioinform Conf. 2004:415-24. doi: 10.1109/csb.2004.1332454.
Proc IEEE Comput Syst Bioinform Conf. 2004.
PMID: 16448034
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Suregene, a scalable system for automated term disambiguation of gene and protein names.
Podowski RM, Cleary JG, Goncharoff NT, Amoutzias G, Hayes WS.
Podowski RM, et al. Among authors: cleary jg.
J Bioinform Comput Biol. 2005 Jun;3(3):743-70. doi: 10.1142/s0219720005001223.
J Bioinform Comput Biol. 2005.
PMID: 16108092
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