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Year | Number of Results |
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2008 | 2 |
2009 | 1 |
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2019 | 1 |
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Page 1
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume.
Nat Commun. 2019 Jan 21;10(1):357. doi: 10.1038/s41467-018-07863-x.
Nat Commun. 2019.
PMID: 30664637
Free PMC article.
The UK10K project identifies rare variants in health and disease.
UK10K Consortium; Walter K, Min JL, Huang J, Crooks L, Memari Y, McCarthy S, Perry JR, Xu C, Futema M, Lawson D, Iotchkova V, Schiffels S, Hendricks AE, Danecek P, Li R, Floyd J, Wain LV, Barroso I, Humphries SE, Hurles ME, Zeggini E, Barrett JC, Plagnol V, Richards JB, Greenwood CM, Timpson NJ, Durbin R, Soranzo N.
UK10K Consortium, et al.
Nature. 2015 Oct 1;526(7571):82-90. doi: 10.1038/nature14962. Epub 2015 Sep 14.
Nature. 2015.
PMID: 26367797
Free PMC article.
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Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity.
Hendricks AE, Bochukova EG, Marenne G, Keogh JM, Atanassova N, Bounds R, Wheeler E, Mistry V, Henning E, Körner A, Muddyman D, McCarthy S, Hinney A, Hebebrand J, Scott RA, Langenberg C, Wareham NJ, Surendran P, Howson JM, Butterworth AS, Danesh J, Nordestgaard BG, Nielsen SF, Afzal S, Papadia S, Ashford S, Garg S, Millhauser GL, Palomino RI, Kwasniewska A, Tachmazidou I, O'Rahilly S, Zeggini E, Barroso I, Farooqi IS; Understanding Society Scientific Group; EPIC-CVD Consortium; UK10K Consortium.
Hendricks AE, et al.
Sci Rep. 2017 Jun 29;7(1):4394. doi: 10.1038/s41598-017-03054-8.
Sci Rep. 2017.
PMID: 28663568
Free PMC article.
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Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel.
Huang J, Howie B, McCarthy S, Memari Y, Walter K, Min JL, Danecek P, Malerba G, Trabetti E, Zheng HF; UK10K Consortium; Gambaro G, Richards JB, Durbin R, Timpson NJ, Marchini J, Soranzo N.
Huang J, et al.
Nat Commun. 2015 Sep 14;6:8111. doi: 10.1038/ncomms9111.
Nat Commun. 2015.
PMID: 26368830
Free PMC article.
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Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency.
Ridout CK, Brown RM, Walter JH, Brown GK.
Ridout CK, et al.
Hum Genet. 2008 Sep;124(2):187-93. doi: 10.1007/s00439-008-0538-0. Epub 2008 Aug 17.
Hum Genet. 2008.
PMID: 18709504
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Pyruvate dehydrogenase E2 deficiency: a potentially treatable cause of episodic dystonia.
McWilliam CA, Ridout CK, Brown RM, McWilliam RC, Tolmie J, Brown GK.
McWilliam CA, et al. Among authors: ridout ck.
Eur J Paediatr Neurol. 2010 Jul;14(4):349-53. doi: 10.1016/j.ejpn.2009.11.001. Epub 2009 Dec 21.
Eur J Paediatr Neurol. 2010.
PMID: 20022530
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A putative exonic splicing enhancer in exon 7 of the PDHA1 gene affects splicing of adjacent exons.
Ridout CK, Keighley P, Krywawych S, Brown RM, Brown GK.
Ridout CK, et al.
Hum Mutat. 2008 Mar;29(3):451. doi: 10.1002/humu.9525.
Hum Mutat. 2008.
PMID: 18273899
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