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UK10K
117  results:
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1

A recurrent de novo mutation inACTG1causes isolated ocular ..:

Rainger, Joe ; Williamson, Kathleen A ; Soares, Dinesh C...
Human Mutation.  38 (2017)  8 - p. 942-946 , 2017
Link: https://doi.org/10.1002/..
 
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2

Exome sequencing of Pakistani consanguineous families ident..:

UK10K ; Riazuddin, S ; Hussain, M...
Molecular Psychiatry.  22 (2016)  11 - p. 1604-1614 , 2016
Link: https://doi.org/10.1038/..
 
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3

'Pop-Up' Governance: developing internal governance framewo..:

UK10K ; Kaye, Jane ; Muddyman, Dawn...
Life Sciences, Society and Policy.  11 (2015)  1 - p. , 2015
Link: https://doi.org/10.1186/..
 
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4

Targeted NGS gene panel identifies mutations in RSPH1 causi..:

Onoufriadis, Alexandros ; Shoemark, Amelia ; Schmidts, Miriam...
Human Molecular Genetics.  23 (2014)  13 - p. 3362-3374 , 2014
Link: https://doi.org/10.1093/..
 
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5

DYX1C1 is required for axonemal dynein assembly and ciliary..:

UK10K ; Tarkar, Aarti ; Loges, Niki T...
Nature Genetics.  45 (2013)  9 - p. 995-1003 , 2013
Link: https://doi.org/10.1038/..
 
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6

Steroid receptor coactivator-1 modulates the function of Po..:

Yang, Yongjie ; van der Klaauw, Agatha A. ; Zhu, Liangru...
Nature Communications.  10 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
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7

GARFIELD classifies disease-relevant genomic features throu..:

UK10K Consortium ; Iotchkova, Valentina ; Ritchie, Graham R. S....
Nature Genetics.  51 (2019)  2 - p. 343-353 , 2019
Link: https://doi.org/10.1038/..
 
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8

Bi-allelic mutations in MYL1 cause a severe congenital myop..:

Ravenscroft, Gianina ; Zaharieva, Irina ; Bortolotti, Carlo A...
Human Molecular Genetics.  , 2018
Link: https://doi.org/10.1093/..
 
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9

Author Correction: Discovery and refinement of genetic loci..:

UK10K Consortium ; Iotchkova, Valentina ; Huang, Jie...
Nature Genetics.  50 (2018)  12 - p. 1752-1752 , 2018
Link: https://doi.org/10.1038/..
 
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10

Erratum: Corrigendum: Mutations in the histone methyltransf..:

UK10K Consortium ; Meyer, Esther ; Carss, Keren J...
Nature Genetics.  49 (2017)  6 - p. 969-969 , 2017
Link: https://doi.org/10.1038/..
 
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11

The contribution of rare variants to risk of schizophrenia ..:

INTERVAL Study ; Singh, Tarjinder ; Walters, James T R...
Nature Genetics.  49 (2017)  8 - p. 1167-1173 , 2017
Link: https://doi.org/10.1038/..
 
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12

A secreted WNT-ligand-binding domain of FZD5 generated by a..:

Liu, Chunqiao ; Widen, Sonya A. ; Williamson, Kathleen A....
Human Molecular Genetics.  25 (2016)  7 - p. 1382-1391 , 2016
Link: https://doi.org/10.1093/..
 
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13

Mutations in the histone methyltransferase gene KMT2B cause..:

UK10K Consortium ; Meyer, Esther ; Carss, Keren J...
Nature Genetics.  49 (2016)  2 - p. 223-237 , 2016
Link: https://doi.org/10.1038/..
 
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14

Discovery and refinement of genetic loci associated with ca..:

UK10K Consortium ; Iotchkova, Valentina ; Huang, Jie...
Nature Genetics.  48 (2016)  11 - p. 1303-1312 , 2016
Link: https://doi.org/10.1038/..
 
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15

A method for analyzing multiple continuous phenotypes in ra..:

UK10K Consortium ; Sun, Jianping ; Oualkacha, Karim...
European Journal of Human Genetics.  24 (2016)  9 - p. 1344-1351 , 2016
Link: https://doi.org/10.1038/..
 
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