Browse by UCL people
Group by: Type | Date
Number of items: 48.
Article
ArulJothi, KN;
Whitthall, RA;
Futema, M;
Humphries, SE;
George, M;
Elangovan, S;
Nair, DR;
(2016)
Molecular analysis of the LDLR gene in coronary artery disease patients from the Indian population.
Clinical Biochemistry
, 49
(9)
pp. 669-674.
10.1016/j.clinbiochem.2016.02.009.
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Boldt, K;
Van Reeuwijk, J;
Lu, Q;
Koutroumpas, K;
Nguyen, TM;
Texier, Y;
Van Beersum, SE;
... UK10K Rare Diseases Group; + view all
(2016)
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
Nature Communications
, 7
, Article 11491. 10.1038/ncomms11491.
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Cipriani, V;
Vestito, L;
Magavern, EF;
Jacobsen, JOB;
Arno, G;
Behr, ER;
Benson, KA;
... Smedley, D; + view all
(2025)
Rare disease gene association discovery in the 100,000 Genomes Project.
Nature
10.1038/s41586-025-08623-w.
(In press).
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Dharmayat, KI;
Vallejo-Vaz, AJ;
Stevens, CAT;
Brandts, JM;
Lyons, ARM;
Groselj, U;
Abifadel, M;
... Scholl-Bürgi, S; + view all
(2024)
Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study.
The Lancet
, 403
(10421)
pp. 55-66.
10.1016/S0140-6736(23)01842-1.
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Durst, R;
Ibe, UK;
Shpitzen, S;
Schurr, D;
Eliav, O;
Futema, M;
Whittall, R;
... Leitersdorf, E; + view all
(2017)
Molecular genetics of familial hypercholesterolemia in Israel-revisited.
Atherosclerosis
, 257
pp. 55-63.
10.1016/j.atherosclerosis.2016.12.021.
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Ekong, R;
Emmett, W;
Dawson, NL;
Futema, M;
Plagnol, V;
Humphries, SE;
Povey, MS;
(2016)
Variants within TSC2 exons 25 and 31 are very unlikely to cause clinically diagnosable tuberous sclerosis.
Human Mutation
, 37
(4)
pp. 364-370.
10.1002/humu.22951.
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Fairoozy, RH;
Futema, M;
Vakili, R;
Abbaszadegan, MR;
Hosseini, S;
Aminzadeh, M;
Zaeri, H;
... Sahebkar, A; + view all
(2017)
The Genetic Spectrum of Familial Hypercholesterolemia (FH) in the Iranian Population.
Sci Rep
, 7
(1)
, Article 17087. 10.1038/s41598-017-17181-9.
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Futema, M;
Ramaswami, U;
Tichy, L;
Bogsrud, MP;
Holven, KB;
van Lennep, JR;
Wiegman, A;
... Humphries, SE; + view all
(2021)
Comparison of the mutation spectrum and association with pre and post treatment lipid measures of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries.
Atherosclerosis
, 319
pp. 108-117.
10.1016/j.atherosclerosis.2021.01.008.
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Futema, M;
Taylor-Beadling, A;
Williams, M;
Humphries, SE;
(2021)
Genetic testing for Familial Hypercholesterolaemia - Past, Present and Future.
Journal of Lipid Research
, Article 100139. 10.1016/j.jlr.2021.100139.
(In press).
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Futema, M;
Bourbon, M;
Williams, M;
Humphries, SE;
(2018)
Clinical utility of the polygenic LDL-C SNP score in familial hypercholesterolemia.
Atherosclerosis
, 277
pp. 457-463.
10.1016/j.atherosclerosis.2018.06.006.
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Futema, M;
Cooper, JA;
Charakida, M;
Boustred, C;
Sattar, N;
Deanfield, J;
Lawlor, DA;
... Hingorani, AD; + view all
(2017)
Screening for familial hypercholesterolaemia in childhood: Avon Longitudinal Study of Parents and Children (ALSPAC).
Atherosclerosis
, 260
pp. 47-55.
10.1016/j.atherosclerosis.2017.03.007.
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Futema, M;
Kumari, M;
Boustred, C;
Kivimaki, M;
Humphries, SE;
(2015)
Would raising the total cholesterol diagnostic cut-off from 7.5 mmol/L to 9.3 mmol/L improve detection rate of patients with monogenic familial hypercholesterolaemia?
Atherosclerosis
, 239
(2)
295 - 298.
10.1016/j.atherosclerosis.2015.01.028.
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Futema, M;
Plagnol, V;
Li, K;
Whittall, RA;
Neil, HA;
Seed, M;
Simon Broome Consortium, .;
... Humphries, SE; + view all
(2014)
Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.
J Med Genet
, 51
(8)
537 - 544.
10.1136/jmedgenet-2014-102405.
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Futema, M;
Plagnol, V;
Whittall, RA;
Neil, HA;
Simon Broome Register Group;
Humphries, SE;
UK10K;
(2012)
Use of targeted exome sequencing as a diagnostic tool for familial hypercholesterolaemia.
Journal of Medical Genetics
, 49
(10)
644 -649.
10.1136/jmedgenet-2012-101189.
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Futema, M;
Shah, S;
Cooper, JA;
Li, K;
Whittall, RA;
Sharifi, M;
Goldberg, O;
... Humphries, SE; + view all
(2014)
Refinement of Variant Selection for the LDL Cholesterol Genetic Risk Score in the Diagnosis of the Polygenic Form of Clinical Familial Hypercholesterolemia and Replication in Samples from 6 Countries.
Clinical Chemistry
, 61
(1)
pp. 231-238.
10.1373/clinchem.2014.231365.
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Gorman, KM;
Meyer, E;
Grozeva, D;
Spinelli, E;
McTague, A;
Sanchis-Juan, A;
Carss, KJ;
... Kurian, MA; + view all
(2019)
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
American Journal of Human Genetics
, 104
(5)
pp. 948-956.
10.1016/j.ajhg.2019.03.005.
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Gratton, Jasmine;
Finan, Chris;
Hingorani, Aroon D;
Humphries, Steve E;
Futema, Marta;
(2022)
LDL-C Concentrations and the 12-SNP LDL-C Score for Polygenic Hypercholesterolaemia in Self-Reported South Asian, Black and Caribbean Participants of the UK Biobank.
Frontiers in Genetics
, 13
, Article 845498. 10.3389/fgene.2022.845498.
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Gratton, Jasmine;
Futema, Marta;
Humphries, Steve E;
Hingorani, Aroon D;
Finan, Chris;
Schmidt, Amand F;
(2023)
A Machine Learning Model to Aid Detection of Familial Hypercholesterolemia.
JACC: Advances
, 2
(4)
, Article 100333. 10.1016/j.jacadv.2023.100333.
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Gratton, Jasmine;
Humphries, Steve E;
Futema, Marta;
(2023)
Prevalence of FH-Causing Variants and Impact on LDL-C Concentration in European, South Asian, and African Ancestry Groups of the UK Biobank-Brief Report.
Arteriosclerosis, Thrombosis, and Vascular Biology
, 43
(9)
pp. 1737-1742.
10.1161/ATVBAHA.123.319438.
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Hall, CL;
Akhtar, MM;
Sabater-Molina, M;
Futema, M;
Asimaki, A;
Protonotarios, A;
Dalageorgou, C;
... McKenna, WJ; + view all
(2020)
Filamin C variants are associated with a distinctive clinical and immunohistochemical arrhythmogenic cardiomyopathy phenotype.
International Journal of Cardiology
, 307
pp. 101-108.
10.1016/j.ijcard.2019.09.048.
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Hall, CL;
Gurha, P;
Sabater-Molina, M;
Asimaki, A;
Futema, M;
Lovering, RC;
Suárez, MP;
... Syrris, P; + view all
(2019)
RNA sequencing-based transcriptome profiling of cardiac tissue implicates novel putative disease mechanisms in FLNC-associated arrhythmogenic cardiomyopathy.
International Journal of Cardiology
10.1016/j.ijcard.2019.12.002.
(In press).
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Hall, CL;
Sutanto, H;
Dalageorgou, C;
McKenna, WJ;
Syrris, P;
Futema, M;
(2018)
Frequency of genetic variants associated with arrhythmogenic right ventricular cardiomyopathy in the genome aggregation database.
European Journal of Human Genetics
, 26
pp. 1312-1318.
10.1038/s41431-018-0169-4.
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Haworth, S;
Shapland, CY;
Hayward, C;
Prins, BP;
Felix, JF;
Medina-Gomez, C;
Rivadeneira, F;
... St Pourcain, B; + view all
(2019)
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume.
Nature Communications
, 10
, Article 357. 10.1038/s41467-018-07863-x.
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Hendricks, AE;
Bochukova, EG;
Marenne, G;
Keogh, JM;
Atanassova, N;
Bounds, R;
Wheeler, E;
... Bhattacharyaa, S; + view all
(2017)
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity.
Scientific Reports
, 7
(1)
, Article 4394. 10.1038/s41598-017-03054-8.
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Hingorani, AD;
Futema, M;
Humphries, S;
(2017)
Child–Parent Familial Hypercholesterolemia Screening in Primary Care.
[Letter].
New England Journal of Medicine
, 376
(5)
p. 499.
10.1056/NEJMc1615365.
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Huang, J;
Howie, B;
McCarthy, S;
Memari, Y;
Walter, K;
Min, JL;
Danecek, P;
... Soranzo, N; + view all
(2015)
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel.
Nature Communications
, 6
(811)
10.1038/ncomms9111.
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Humphries, Steve Eric;
Futema, Marta;
(2025)
Genetic Determinants of the Familial Hypercholesterolaemia Phenotype.
Annals of Human Genetics
, 89
(5)
pp. 293-304.
10.1111/ahg.12594.
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Leigh, S;
Futema, M;
Whittall, R;
Taylor-Beadling, A;
Williams, M;
den Dunnen, JT;
Humphries, SE;
(2017)
The UCL low-density lipoprotein receptor gene variant database: pathogenicity update.
Journal of Medical Genetics
, 54
(4)
pp. 217-223.
10.1136/jmedgenet-2016-104054.
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Lopes, LR;
Murphy, D;
Bugiardini, E;
Salem, R;
Jager, J;
Futema, M;
Akhtar, MM;
... Elliott, PM; + view all
(2021)
Iterative Reanalysis of Hypertrophic Cardiomyopathy Exome Data Reveals Causative Pathogenic Mitochondrial DNA Variants.
Circulation: Genomic and Precision Medicine
, 14
(3)
, Article e003388. 10.1161/CIRCGEN.121.003388.
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Lopes, LR;
Barbosa, P;
Torrado, M;
Quinn, E;
Merino, A;
Ochoa, JP;
Jager, J;
... Elliott, PM; + view all
(2020)
Cryptic Splice-altering Variants in MYBPC3 Are a Prevalent Cause of Hypertrophic Cardiomyopathy.
Circulation: Genomic and Precision Medicine
, 13
(3)
, Article e002905. 10.1161/CIRCGEN.120.002905.
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Lopes, LR;
Futema, M;
Akhtar, MM;
Lorenzini, M;
Pittman, A;
Syrris, P;
Elliott, PM;
(2019)
Prevalence of TTR variants detected by whole-exome sequencing in hypertrophic cardiomyopathy.
The Journal of Protein Folding Disorders
, 26
(4)
pp. 243-247.
10.1080/13506129.2019.1665996.
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Lopes, LR;
Garcia-Hernández, S;
Lorenzini, M;
Futema, M;
Chumakova, O;
Zateyshchikov, D;
Isidoro-Garcia, M;
... Elliott, PM; + view all
(2021)
Alpha-protein kinase 3 (ALPK3)-truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy.
European Heart Journal
10.1093/eurheartj/ehab424.
(In press).
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Mariano, C;
Alves, AC;
Medeiros, A;
Chora, JR;
Antunes, M;
Futema, M;
Humphries, SE;
(2020)
The familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causes.
Clinical Genetics
, 97
(3)
pp. 457-466.
10.1111/cge.13697.
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Mickiewicz, A;
Futema, M;
Ćwiklinska, A;
Kuchta, A;
Jankowski, M;
Kaszubowski, M;
Chmara, M;
... Gruchała, M; + view all
(2020)
Higher Responsiveness to Rosuvastatin in Polygenic versus Monogenic Hypercholesterolaemia: A Propensity Score Analysis.
Life
, 10
(5)
, Article 73. 10.3390/life10050073.
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Olcese, C;
Patel, MP;
Shoemark, A;
Kiviluoto, S;
Legendre, M;
Williams, HJ;
Vaughan, CK;
... Mitchison, HM; + view all
(2017)
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.
Nature Communications
, 8
, Article 14279. 10.1038/ncomms14279.
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Pears, R;
Griffin, M;
Futema, M;
Humphries, SE;
(2015)
Improving the cost effectiveness equation of cascade testing for Familial Hypercholesterolaemia (FH).
Current Opinion in Lipidology
, 26
(3)
pp. 162-168.
10.1097/MOL.0000000000000173.
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Protonotarios, A;
Brodehl, A;
Asimaki, A;
Jager, J;
Quinn, E;
Stanasiuk, C;
Ratnavadivel, S;
... Lopes, LR; + view all
(2021)
The Novel Desmin Variant p.Leu115Ile Is Associated With a Unique Form of Biventricular Arrhythmogenic Cardiomyopathy.
Canadian Journal of Cardiology
, 37
(6)
pp. 857-866.
10.1016/j.cjca.2020.11.017.
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Ramaswami, U;
Futema, M;
Bogsrud, MP;
Holven, KB;
Roeters van Lennep, J;
Wiegman, A;
Descamps, OS;
... Humphries, SE; + view all
(2020)
Comparison of the characteristics at diagnosis and treatment of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries.
Atherosclerosis
, 292
pp. 178-187.
10.1016/j.atherosclerosis.2019.11.012.
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Schmidts, M;
Hou, Y;
Cortés, CR;
Mans, DA;
Huber, C;
Boldt, K;
Patel, M;
... Witman, GB; + view all
(2015)
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.
Nature Communications
, 6
, Article 7074. 10.1038/ncomms8074.
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Sharifi, M;
Futema, M;
Nair, D;
Humphries, SE;
(2019)
Polygenic Hypercholesterolemia and Cardiovascular Disease Risk.
Current Cardiology Reports
, 21
(6)
, Article 43. 10.1007/s11886-019-1130-z.
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Sharifi, M;
Higginson, E;
Bos, S;
Gallivan, A;
Harvey, D;
Li, KW;
Abeysekera, A;
... Humphries, SE; + view all
(2017)
Greater preclinical atherosclerosis in treated monogenic familial hypercholesterolemia vs. polygenic hypercholesterolemia.
Atherosclerosis
, 263
pp. 405-411.
10.1016/j.atherosclerosis.2017.05.015.
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Sharifi, M;
Walus-Miarka, M;
Idzior-Waluś, B;
Malecki, MT;
Sanak, M;
Whittall, R;
Li, KW;
... Humphries, SE; + view all
(2016)
The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.
Metabolism
, 65
(3)
pp. 48-53.
10.1016/j.metabol.2015.10.018.
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Walter, K;
Min, JL;
Huang, J;
Crooks, L;
Memari, Y;
McCarthy, S;
Perry, JRB;
... Zhang, W; + view all
(2015)
The UK10K project identifies rare variants in health and disease.
Nature
, 526
(7571)
pp. 82-90.
10.1038/nature14962.
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Yang, Y;
van der Klaauw, AA;
Zhu, L;
Cacciottolo, TM;
He, Y;
Stadler, LKJ;
Wang, C;
... Zhang, W; + view all
(2019)
Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis.
Nature Communications
, 10
, Article 1718. 10.1038/s41467-019-08737-6.
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Zanoni, P;
Panteloglou, G;
Othman, A;
Haas, JT;
Meier, R;
Rimbert, A;
Futema, M;
... Von Eckardstein, A; + view all
(2022)
Posttranscriptional Regulation of the Human LDL Receptor by the U2-Spliceosome.
Circulation Research
, 130
(1)
pp. 80-95.
10.1161/CIRCRESAHA.120.318141.
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Proceedings paper
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Bird, Martin;
Rimbert, Antoine;
Pittman, Alan Michael;
Humphries, Steve Eric;
Futema, Marta;
(2024)
Variants in LPA are associated with familial hypercholesterolaemia: whole genome sequencing analysis in the 100 000 Genomes Project.
In:
European Journal of Preventive Cardiology.
(pp. zwae371).
Oxford University Press: Oxford, UK.
(In press).
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Conference item
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Sharifi, M;
Gallivan, A;
Harvey, D;
Wah, LK;
Cooper, J;
Futema, M;
Humphries, SE;
(2016)
Atherosclerosis in monogenic familial hypercholesterolemia versus polygenic hypercholesterolemia.
Presented at: Congress of the European-Atherosclerosis-Society (EAS), Innsbruck, Austria.
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Thesis
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Futema, M;
(2014)
The Genetic Architecture of Familial Hypercholesterolaemia.
Doctoral thesis (PhD), UCL (University College London).
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