Search results - ORA - Oxford University Research Archive

1 - 7 of 7

1

Journal article

Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.

Futema, M, Plagnol, V, Li, K, et al.
2014-08-01

2

Journal article

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

Sifrim, A, Hitz, M, Wilsdon, A, et al.
2016-08-01

3

Journal article

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Huang, J, Howie, B, McCarthy, S, et al.
2015-09-14

4

Journal article

Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps

Iotchkova, V, Huang, J, Morris, J, et al.
2016-09-01

5

Journal article

Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesia

Gorman, KM, Meyer, E, Grozeva, D, et al.
2019-04-11

6

Journal article

Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects.

Williamson, K, Rainger, J, Floyd, J, et al.
2014-02-01

7

Journal article

Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture.

Zheng, H, Forgetta, V, Hsu, Y, et al.
2015-10-01

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