Search results - ORA - Oxford University Research Archive

1 - 27 of 27

1

Conference item

Expansion of a diagnostic service for hypertrophic cardiomyopathy using next generation sequencing

Reid, S, Woodley, J, Kaur, K, et al.
2011-09-01

2

Conference item

Inherited Cardiac Conditions - current issues and future directions

Ormondroyd, L, Oates, S, Thomson, K, et al.
2009-09-01

3

Journal article

An in vivo model of reverse signalling through CD40L.

Thomson, K, Manis, J, Jones, M, et al.
1999-11-15

4

Journal article

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel

Kelly, M, Caleshu, C, Morales, A, et al.
2018-01-04

5

Conference item

A fast-throughput service for Familial Hypertrophic and Dilated Cardiomyopathy using High resolution melt curve analysis on the Lightscanner

Thistleton, J, Thomson, K, Wilson, M, et al.
2007-09-01

6

Conference item

Oxford Molecular Genetics Laboratory Cardiomyopathy Service

Thistleton, J, Thomson, K, Blair, E, et al.
2006-09-01

7

Journal article

Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY).

Thomson, K, Gloyn, A, Colclough, K, et al.
2003-11-01

8

Journal article

Distinct subgroups in hypertrophic cardiomyopathy in the NHLBI HCM Registry

Neubauer, S, Kolm, P, Ho, CY, et al.
2019-11-04

9

Journal article

Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield

Thomson, K, Ormondroyd, E, Harper, A, et al.
2018-12-11

10

Journal article

When signalling goes wrong: pathogenic variants in structural and signalling proteins causing cardiomyopathies

Ehsan, M, Jiang, H, Thomson, K, et al.
2017-11-08

11

Journal article

Clinical evidence of a graft-versus-Hodgkin's-lymphoma effect after reduced-intensity allogeneic transplantation.

Peggs, K, Hunter, A, Chopra, R, et al.
2005-01-01

12

Journal article

Interviewing strategies in the face of beauty: a psychophysiological investigation into the job negotiation process.

Senior, C, Thomson, K, Badger, J, et al.
2007-11-01

13

Journal article

Data-driven modelling of mutational hotspots and in silico predictors in hypertrophic cardiomyopathy

Waring, A, Harper, A, Salatino, S, et al.
2020-07-30

14

Journal article

Identification of a novel gene, ETX1 from Xp21.1, a candidate gene for X-linked retintis pigmentosa (RP3).

Dry, K, Aldred, M, Edgar, A, et al.
1995-12-01

15

Journal article

Characterization of antimicrobial-resistant Gram-negative bacteria that cause neonatal sepsis in seven low- and middle-income countries

Sands, K, Walsh, TR, Carvalho, MJ, et al.
2021-03-29

16

Journal article

Impact of in vivo alemtuzumab dose before reduced intensity conditioning and HLA-identical sibling stem cell transplantation: pharmacokinetics, GVHD, and immune reconstitution.

Chakraverty, R, Orti, G, Roughton, M, et al.
2010-10-01

17

Journal article

Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper IgE

Kienzler, A, van Schouwenburg, P, Taylor, J, et al.
2016

18

Journal article

Incremental value of left atrial booster and reservoir strain in predicting atrial fibrillation in patients with hypertrophic cardiomyopathy: a cardiovascular magnetic resonance study

Raman, B, Smillie, RW, Mahmod, M, et al.
2021-10-11

19

Journal article

HLA-mismatched unrelated donors are a viable alternate graft source for allogeneic transplantation following alemtuzumab-based reduced-intensity conditioning.

Mead, A, Thomson, K, Morris, E, et al.
2010-06-01

20

Journal article

DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model.

Wordsworth, S, Leal, J, Blair, E, et al.
2010-04-01

21

Journal article

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

Thomson, K, Watkins, H, Farrall, M, et al.
2016-08-17

22

Journal article

TCR beta spectratyping in RA: evidence of clonal expansions in peripheral blood lymphocytes.

Hall, F, Thomson, K, Procter, J, et al.
1998-05-01

23

Journal article

Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series

Taylor, J, Craft, J, Blair, E, et al.
2019-07-25

24

Conference item

Is DNA testing for hypertrophic cardiomyopathy cost-effective?

Wordsworth, S, Leal, J, Legood, R, et al.
2006-09-01

25

Journal article

Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes

Walsh, R, Buchan, R, Wilk, A, et al.
2017-01-11

26

Journal article

DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model

Wordsworth, S, Leal, J, Blair, E, et al.
2010-01-01

27

Thesis

Refining the genetic architecture of inherited cardiomyopathies through case-control analyses

Thomson, K
2018

TO TOP