Authors and Affiliations

Click on the link below to download the author list from the submitted Flagship UK10K paper:

Click on the links below to download author lists for each working group (these have not been updated since 2012):

Publications

Whole-genome sequence-based analysis of thyroid function
Nat. Comm. 2015 Mar. 6;6:5681.
Taylor et al.
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Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study
Cardiovasc Res. 2015 Feb 17. pii: cvv042.
Behr et al.


A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans
Nat. Commun. 2014 Sep. 16;5:4871.
Timpson et al.
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Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations
J Med Genet. 2014 Jul. (1);0, 1-8.
Futema et al.
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Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations
Am J Hum Genet. 2014 Jun. (5);94, 915-923
Rainger et al.
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Expansion of Ocular Phenotypic Features Associated With Mutations in ADAMTS18
JAMA Ophthalmol. 2014 May (29)
Chandra et al.
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Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects
Am J Hum Genet. 2014 Feb. (6);94, 295-302
Williamson et al.
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Sequencing of SCN5A Identifies Rare and Common Variants Associated With Cardiac Conduction: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium
Circ Cardiovasc Genet. 2014 June.
Magnani et al.
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Estimating telomere length from whole genome sequence data
Nucleic Acids Res. 2014 May 1;42(9):e75.
Ding et al.
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Managing clinically significant findings in research: the UK10K example
Eur J Hum Genet 2014 Jan 15.
Kaye et al.
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Implementing a successful data-management framework: the UK10K managed access model
Genome Med. 2013 Nov 15;5(11):100.
Muddyman et al.
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NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease
Cell Rep. 2013 Jun 27;3(6):1795-805.
Pitceathly et al.
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Approaches to the detection of recessive effects using next generation sequencing data from outbred populations
Adv Appl Bioinform Chem. 2013 Jun 11;6:29-35.
Curtis, D
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Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia
Am J Hum Genet. 2013 Jun 6;92(6):965-73.
Oates and Rossor et al.
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Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease
Hum Mutat. 2013 May;34(5):714-24.
Schmidts et al.
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Supplementary Information

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement
J Med Genet. 2013 May;50(5):309-23.
Schmidts et al.
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Supplementary Data

Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing
J Med Genet. 2013 Apr;50(4):228-39.
Lopes et al.
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Supplementary Data

Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan
Am J Hum Genet. 2013 Mar 7;92(3):354-65.
Stevens and Carss et al.
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Mutations in CCDC39 and CCDC40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms
Human Mutat. 2013 Mar;34(3):462-72.
Antony et al.
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Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia
Am J Human Genet. 2013 Jan 10;92(1):88-98.
Onoufriadis et al.
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Supplementary Information

ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.
Brain. 2013 Jan;136(Pt1):269-81.
Cirak et al.
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Supplementary Information

Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry.
Am J Hum Genet. 2012 Oct 5;91(4):672-84.
Olbrich, Schmidts, Werner, Onoufriadis et al.
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Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia.
J Med Genet. 2012 Oct 5;91(4):672-84.
Futema et al.
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