Publications: Prosir Mark Caulfield
Bailey C, Pich O, Thol K, Watkins TBK, Luebeck J, Rowan A, Stavrou G, Weiser NE et al.
(
2024
)
.
Origins and impact of extrachromosomal DNA
.
Nature
vol.
635
,
(
8037
)
193
-
200
.
Leong IUS, Cabrera CP, Cipriani V, Ross PJ, Turner RM, Stuckey A, Sanghvi S, Pasko D et al.
(
2024
)
.
Large-Scale Pharmacogenomics Analysis of Patients With Cancer Within the 100,000 Genomes Project Combining Whole-Genome Sequencing and Medical Records to Inform Clinical Practice
.
Journal of Clinical Oncology
Collier D, Taylor M, Godec T, Shiel J, Saxena M, Patel M, Goldsmith P, Deeming N et al.
(
2024
)
.
Do more with less? Impact of personalized very low doses of amlodipine in the PERSONAL-CovidBP trial
.
European Heart Journal
vol.
45
,
(
Supplement_1
)
Hepburn D, Hitchings AW, Wilson K, Bollington L, Magavern E, Caulfield MJ, Maxwell S
(
2024
)
.
Importance of the UK Prescribing Safety Assessment as a component of undergraduate medical assessment
.
British Journal of Clinical Pharmacology
Ibañez K, Jadhav B, Zanovello M, Gagliardi D, Clarkson C, Facchini S, Garg P, Martin-Trujillo A et al.
(
2024
)
.
Increased frequency of repeat expansion mutations across different populations
.
Nature Medicine1
-
12
.
Thompson DJ, Wells D, Selzam S, Peneva I, Moore R, Sharp K, Tarran WA, Beard EJ et al.
(
2024
)
.
A systematic evaluation of the performance and properties of the UK Biobank Polygenic Risk Score (PRS) Release
.
PLOS ONE
vol.
19
,
(
9
)
Magavern EF, McDermott JH, Caulfield MJ, Newman WG
(
2024
)
.
CYP2C19 genetic testing for Mavacamten and ischaemic stroke treatment: What does the result mean for cardiovascular prescribers in the UK and Europe?
.
European Heart Journal - Cardiovascular Pharmacotherapy
vol.
10
,
(
6
)
481
-
483
.
Shi S, Rubinacci S, Hu S, Moutsianas L, Stuckey A, Need AC, Palamara PF, Caulfield M et al.
(
2024
)
.
A Genomics England haplotype reference panel and imputation of UK Biobank
.
Nature Genetics
vol.
56
,
(
9
)
1800
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1803
.
Keaton JM, Kamali Z, Xie T, Vaez A, Williams A, Goleva SB, Ani A, Evangelou E et al.
(
2024
)
.
Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits
.
Nature Genetics
vol.
56
,
(
5
)
778
-
791
.
Smith CEL, Laugel-Haushalter V, Hany U, Best S, Taylor RL, Poulter JA, Wortmann SB, Feichtinger RG et al.
(
2024
)
.
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability
.
Journal of Medical Genetics
vol.
61
,
(
7
)
689
-
698
.
Magavern EF, Kapil V, Saxena M, Gupta A, Caulfield MJ
(
2024
)
.
Use of Genomics to Develop Novel Therapeutics and Personalize Hypertension Therapy
.
Arteriosclerosis Thrombosis and Vascular Biology
vol.
44
,
(
4
)
784
-
793
.
Collier DJ, Taylor M, Godec T, Shiel J, James R, Chowdury Y, Ebano P, Monk V et al.
(
2024
)
.
Personalized Antihypertensive Treatment Optimization With Smartphone‐Enabled Remote Precision Dosing of Amlodipine During the COVID‐19 Pandemic (PERSONAL‐CovidBP Trial)
.
Journal of the American Heart Association
vol.
13
,
(
4
)
Seaby EG, Leggatt G, Cheng G, Thomas NS, Ashton JJ, Stafford I, Baralle D, Rehm HL et al.
(
2024
)
.
A gene pathogenicity tool “GenePy” identifies missed biallelic diagnoses in the 100,000 Genomes Project
.
Genetics in Medicine
vol.
26
,
(
4
)
Sosinsky A, Ambrose J, Cross W, Turnbull C, Henderson S, Jones L, Hamblin A, Arumugam P et al.
(
2024
)
.
Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme
.
Nature Medicine
vol.
30
,
(
1
)
279
-
289
.
Olinger E, Wilson IJ, Orr S, Barroso-Gil M, Neatu R, Consortium GER, Ambrose JC, Arumugam P et al.
(
2024
)
.
Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy
.
Genetics in Medicine Open
vol.
2
,
Caulfield M
(
2024
)
.
Foreword
.
Genomic and Molecular Cardiovascular Medicine
,
Elsevier
Magavern EF, Jacobs B, Warren H, Finocchiaro G, Finer S, Van Heel DA, Smedley D, Caulfield MJ
(
2023
)
.
CYP2C19 genotype prevalence and association with recurrent myocardial infarction in British-South Asians treated with clopidogrel
.
European Heart Journal
vol.
44
,
(
Supplement_2
)
Magavern EF, Van Heel DA, Smedley D, Caulfield MJ
(
2023
)
.
SLCO1B1*5 is protective against non-senile cataracts in cohort prescribed statins: analysis in a British-South Asian cohort
.
European Heart Journal
vol.
44
,
(
Supplement_2
)
Magavern EF, Hitchings A, Bollington L, Wilson K, Hepburn D, Westacott RJ, Sam AH, Caulfield MJ et al.
(
2023
)
.
UK Prescribing Safety Assessment (PSA): The development, implementation and outcomes of a national online prescribing assessment
.
British Journal of Clinical Pharmacology
vol.
90
,
(
2
)
493
-
503
.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier J-M, Ji W, Ionita C et al.
(
2023
)
.
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections
.
Genetics in Medicine
vol.
26
,
(
2
)
Magavern EF, Durrani F, Raza M, Lerner R, Islam MR, Clinch M, Caulfield MJ
(
2023
)
.
British South Asian ancestry participants views of pharmacogenomics clinical implementation and research: a thematic analysis
.
The Pharmacogenomics Journal
vol.
23
,
(
6
)
185
-
194
.
Hartmann S, Yasmeen S, Jacobs BM, Denaxas S, Pirmohamed M, Gamazon ER, Caulfield MJ, Hemingway H et al.
(
2023
)
.
ADRA2A and IRX1 are putative risk genes for Raynaud’s phenomenon
.
Nature Communications
vol.
14
,
(
1
)
Xiao S, Kai Z, Murphy D, Li D, Patel D, Bielowka AM, Bernabeu-Herrero ME, Abdulmogith A et al.
(
2023
)
.
Functional filter for whole-genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants >5 kb from coding DNA
.
American Journal of Human Genetics
vol.
110
,
(
11
)
1903
-
1918
.
Kovilakam SC, Gu M, Dunn WG, Marando L, Barcena C, Consortium GER, Ambrose JC, Arumugam P et al.
(
2023
)
.
Prevalence and significance of DDX41 gene variants in the general population
.
Blood
vol.
142
,
(
14
)
1185
-
1192
.
Lagou V, Jiang L, Ulrich A, Zudina L, González KSG, Balkhiyarova Z, Faggian A, Maina JG et al.
(
2023
)
.
GWAS of random glucose in 476,326 individuals provide insights into diabetes pathophysiology, complications and treatment stratification
.
Nature Genetics
vol.
55
,
(
9
)
1448
-
1461
.
Magavern EF, Team GHR, Smedley D, Caulfield MJ
(
2023
)
.
Factor V Leiden, estrogen, and multimorbidity association with venous thromboembolism in a British-South Asian cohort
.
iScience
vol.
26
,
(
10
)
Magavern EF, Jacobs B, Warren H, Finocchiaro G, Finer S, van Heel DA, Team GHR, Smedley D et al.
(
2023
)
.
CYP2C19 Genotype Prevalence and Association With Recurrent Myocardial Infarction in British–South Asians Treated With Clopidogrel
.
JACC Advances
vol.
2
,
(
7
)
Magavern EF, van Heel DA, Team GHR, Smedley D, Caulfield MJ
(
2023
)
.
CYP2C19 loss‐of‐function alleles are not associated with higher prevalence of gastrointestinal bleeds in those who have been prescribed antidepressants: Analysis in a British‐South Asian cohort
.
British Journal of Clinical Pharmacology
vol.
89
,
(
11
)
3432
-
3438
.
Niggl E, Bouman A, Briere LC, Hoogenboezem RM, Wallaard I, Park J, Admard J, Wilke M et al.
(
2023
)
.
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder
.
American Journal of Human Genetics
vol.
110
,
(
8
)
1414
-
1435
.
Dominik N, Magri S, Currò R, Abati E, Facchini S, Corbetta M, Macpherson H, Di Bella D et al.
(
2023
)
.
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis
.
Brain
vol.
146
,
(
12
)
5060
-
5069
.
Vetro A, Pelorosso C, Balestrini S, Masi A, Hambleton S, Argilli E, Conti V, Giubbolini S et al.
(
2023
)
.
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration
.
American Journal of Human Genetics
vol.
110
,
(
8
)
1356
-
1376
.
Sadeghi-Alavijeh O, Chan MMY, Moochhala SH, Consortium GER, Ambrose JC, Arumugam P, Bevers R, Bleda M et al.
(
2023
)
.
Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease
.
Kidney International
vol.
104
,
(
5
)
975
-
984
.
Tesi B, Boileau C, Boycott KM, Canaud G, Caulfield M, Choukair D, Hill S, Spielmann M et al.
(
2023
)
.
Precision medicine in rare diseases: What is next?
.
Journal of Internal Medicine
vol.
294
,
(
4
)
397
-
412
.
Graham SE, Clarke SL, Wu K-HH, Kanoni S, Zajac GJM, Ramdas S, Surakka I, Ntalla I et al.
(
2023
)
.
Author Correction: The power of genetic diversity in genome-wide association studies of lipids
.
Nature
vol.
618
,
(
7965
)
e19
-
e20
.
Magavern EF, van Heel DA, Smedley D, Caulfield MJ
(
2023
)
.
SLCO1B1*5 is protective against non-senile cataracts in cohort prescribed statins: analysis in a British-South Asian cohort
.
The Pharmacogenomics Journal
vol.
23
,
(
5
)
134
-
139
.
Choi D-J, Armstrong G, Lozzi B, Vijayaraghavan P, Plon SE, Wong TC, Boerwinkle E, Muzny DM et al.
(
2023
)
.
The genomic landscape of familial glioma
.
Science Advances
vol.
9
,
(
17
)
Martins Custodio H, Clayton LM, Bellampalli R, Pagni S, Silvennoinen K, Caswell R, Ambrose JC, Arumugam P et al.
(
2023
)
.
Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition
.
Brain
vol.
146
,
(
9
)
3885
-
3897
.
Siedlinski M, Carnevale L, Xu X, Carnevale D, Evangelou E, Caulfield MJ, Maffia P, Wardlaw J et al.
(
2023
)
.
Genetic analyses identify brain structures related to cognitive impairment associated with elevated blood pressure
.
European Heart Journal
vol.
44
,
(
23
)
2114
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2125
.
Jackson A, Lin S-J, Jones EA, Chandler KE, Orr D, Moss C, Haider Z, Ryan G et al.
(
2023
)
.
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14
.
Human Genetics and Genomics Advances
vol.
4
,
(
2
)
Magavern EF, Caulfield MJ
(
2023
)
.
Equal access to pharmacogenomics testing: The ethical imperative for population‐wide access in the UK NHS
.
British Journal of Clinical Pharmacology
vol.
89
,
(
5
)
1701
-
1703
.
Dominiczak AF, Padmanabhan S, Caulfield M, Sutherland K, Wang J, Jones JK
(
2023
)
.
Introducing Cambridge prisms: Precision medicine
.
Cambridge Prisms Precision Medicine
vol.
1
,
Magavern E, Smedley D, Caulfield M
(
2023
)
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Factor V Leiden and oestrogen use in the context of multiple common chronic medical conditions: Analysis in the Genes & Health British-South Asian Cohort
.
BRITISH JOURNAL OF PHARMACOLOGY
.
vol.
180
,
368
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371
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Magavern E, van Heel D, Smedley D, Caulfield M
(
2023
)
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Precision prescribing would not reduce gastrointestinal bleeds associated with CYP2C19 metabolized antidepressants:: Analysis in a British-South Asian cohort
.
BRITISH JOURNAL OF PHARMACOLOGY
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180
,
365
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368
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Kanoni S, Graham SE, Wang Y, Surakka I, Ramdas S, Zhu X, Clarke SL, Bhatti KF et al.
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2022
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Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis
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Genome Biology
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23
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(
1
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Robbe P, Ridout KE, Vavoulis DV, Dréau H, Kinnersley B, Denny N, Chubb D, Appleby N et al.
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2022
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Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features
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Nature Genetics
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54
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11
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1675
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1689
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Cacheiro P, Westerberg CH, Mager J, Dickinson ME, Nutter LMJ, Muñoz-Fuentes V, Hsu C-W, Van den Veyver IB et al.
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2022
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Mendelian gene identification through mouse embryo viability screening
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Genome Medicine
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14
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1
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Yengo L, Vedantam S, Marouli E, Sidorenko J, Bartell E, Sakaue S, Graff M, Eliasen AU et al.
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2022
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A saturated map of common genetic variants associated with human height
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Nature
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610
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7933
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704
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712
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Wei W, Schon KR, Elgar G, Orioli A, Tanguy M, Giess A, Tischkowitz M, Caulfield MJ et al.
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2022
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Nuclear-embedded mitochondrial DNA sequences in 66,083 human genomes
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Nature
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611
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7934
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105
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114
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Moreno-Ruiz N, Lao O, Aróstegui JI, Laayouni H, Casals F
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2022
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Assessing the digenic model in rare disorders using population sequencing data
.
European Journal of Human Genetics
vol.
30
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12
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1439
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1443
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Chan MM, Sadeghi-Alavijeh O, Lopes FM, Hilger AC, Stanescu HC, Voinescu CD, Beaman GM, Newman WG et al.
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2022
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Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves
.
eLife
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11
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Nguyen H, Solomonson M, Palotie A, Davis L, Lee S, Priest J, Sankaran VG, van Heel D et al.
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2022
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A first update on mapping the human genetic architecture of COVID-19
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Nature
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7921
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e1
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e10
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Ramdas S, Judd J, Graham SE, Kanoni S, Wang Y, Surakka I, Wenz B, Clarke SL et al.
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2022
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A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids
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American Journal of Human Genetics
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109
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1366
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Joyce KE, Onabanjo E, Brownlow S, Nur F, Olupona K, Fakayode K, Sroya M, Thomas GA et al.
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2022
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Whole genome sequences discriminate hereditary hemorrhagic telangiectasia phenotypes by non-HHT deleterious DNA variation
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Blood Advances
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3956
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3969
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Shoemark A, Griffin H, Wheway G, Hogg C, Lucas JS, Camps C, Taylor J, Carroll M et al.
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2022
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Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis
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European Respiratory Journal
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60
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Trotman J, Armstrong R, Firth H, Trayers C, Watkins J, Allinson K, Jacques TS, Nicholson JC et al.
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2022
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The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer
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British Journal of Cancer
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137
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144
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Calabrese C, Pyle A, Griffin H, Coxhead J, Hussain R, Braund PS, Li L, Burgess A et al.
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2022
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Heteroplasmic mitochondrial DNA variants in cardiovascular diseases
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PLOS Genetics
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Al-Jawahiri R, Foroutan A, Kerkhof J, McConkey H, Levy M, Haghshenas S, Rooney K, Turner J et al.
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2022
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SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile
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Lesurf R, Said A, Akinrinade O, Breckpot J, Delfosse K, Liu T, Yao R, Persad G et al.
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2022
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Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy
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npj Genomic Medicine
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Baillie JK, Begg C, Clohisey Hendry S, Hinds C, Horby P, Knight J, Ling L, Maslove D et al.
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Whole-genome sequencing reveals host factors underlying critical COVID-19
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Ibañez K, Polke J, Hagelstrom RT, Dolzhenko E, Pasko D, Thomas ERA, Daugherty LC, Kasperaviciute D et al.
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2022
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Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study
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The Lancet Neurology
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234
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245
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Horgan D, Borisch B, Cattaneo I, Caulfield M, Chiti A, Chomienne C, Cole A, Facey K et al.
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2022
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Factors Affecting Citizen Trust and Public Engagement Relating to the Generation and Use of Real-World Evidence in Healthcare
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International Journal of Environmental Research and Public Health
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Owen N, Toms M, Young RM, Eintracht J, Sarkar H, Brooks BP, Moosajee M, Consortium GER et al.
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2022
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Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis
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The Pharmacogenetics of Statin Therapy on Clinical Events: No Evidence that Genetic Variation Affects Statin Response on Myocardial Infarction
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Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update
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Evaluating the performance of a clinical genome sequencing programme for diagnosis of rare genetic disease, seen through the lens of craniosynostosis
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Personalized electronic record supported optimisation when alone for patients with hypertension- pilot study for remote medical management of hypertension during the Covid-19 pandemic (personal covidBP)
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JOURNAL OF HUMAN HYPERTENSION
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Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations
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The power of genetic diversity in genome-wide association studies of lipids
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Cardiac Investigations in Sudden Unexpected Death in DEPDC5‐Related Epilepsy
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Pagnamenta AT, Diaz-Gonzalez F, Banos-Pinero B, Ferla MP, Toosi MB, Calder AD, Karimiani EG, Doosti M et al.
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2021
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Variable skeletal phenotypes associated with biallelic variants in PRKG2
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950
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Smedley D, Smith KR, Martin AR, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G et al.
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2021
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100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report
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2021
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Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study
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The BMJ
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375
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Best S, Lord J, Roche M, Watson CM, Poulter JA, Bevers RPJ, Stuckey A, Szymanska K et al.
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Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project
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Wei Y, Papachristou N, Mueller S, Chang WH, Lai AG
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2021
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Application of ensemble clustering and survival tree analysis for identifying prognostic clinicogenomic features in patients with colorectal cancer from the 100,000 Genomes Project
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BMC Research Notes
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1
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Magavern EF, Kaski JC, Turner RM, Drexel H, Janmohamed A, Scourfield A, Burrage D, Floyd CN et al.
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2021
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Challenges in cardiovascular pharmacogenomics implementation: a viewpoint from the European Society of Cardiology Working Group on Cardiovascular Pharmacotherapy
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European Heart Journal - Cardiovascular Pharmacotherapy
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100
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