Browse by UCL people
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Number of items: 30.
Article
Ahluwalia, TS;
Prins, BP;
Abdollahi, M;
Armstrong, NJ;
Aslibekyan, S;
Bain, L;
Jefferis, B;
... Alizadeh, BZ; + view all
(2021)
Genome-Wide Association Study of Circulating Interleukin 6 Levels Identifies Novel Loci.
Human Molecular Genetics
, 30
(5)
pp. 393-409.
10.1093/hmg/ddab023.
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Behr, ER;
Ritchie, MD;
Tanaka, T;
Kääb, S;
Crawford, DC;
Nicoletti, P;
Floratos, A;
... Roden, DM; + view all
(2013)
Genome Wide Analysis of Drug-Induced Torsades de Pointes: Lack of Common Variants with Large Effect Sizes.
PLoS One
, 8
(11)
, Article e78511. 10.1371/journal.pone.0078511.
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Bihlmeyer, NA;
Brody, JA;
Smith, AV;
Warren, HR;
Lin, H;
Isaacs, A;
Liu, C-T;
... Sotoodehnia, N; + view all
(2018)
ExomeChip-Wide Analysis of 95 626 Individuals Identifies 10 Novel Loci Associated With QT and JT Intervals.
Circulation: Genomic and Precision Medicine
, 11
(1)
, Article e001758. 10.1161/CIRCGEN.117.001758.
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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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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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Hedberg-Oldfors, C;
Abramsson, A;
Osborn, DPS;
Danielsson, O;
Fazlinezhad, A;
Nilipour, Y;
Hübbert, L;
... Jamshidi, Y; + view all
(2019)
Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24.
Human Molecular Genetics
, 28
(11)
pp. 1919-1929.
10.1093/hmg/ddz032.
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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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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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Kaiyrzhanov, Rauan;
Rad, Aboulfazl;
Lin, Sheng-Jia;
Bertoli-Avella, Aida;
Kallemeijn, Wouter W;
Godwin, Annie;
Zaki, Maha S;
... Maroofian, Reza; + view all
(2023)
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
Brain
10.1093/brain/awad380.
(In press).
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Koopmann, Tamara T;
Jamshidi, Yalda;
Naghibi-Sistani, Mohammad;
van der Klift, Heleen M;
Birjandi, Hassan;
Al-Hassnan, Zuhair;
Alwadai, Abdullah;
... Maroofian, Reza; + view all
(2022)
Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy.
European Journal of Human Genetics
10.1038/s41431-022-01204-9.
(In press).
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Lin, H;
van Setten, J;
Smith, AV;
Bihlmeyer, NA;
Warren, HR;
Brody, JA;
Radmanesh, F;
... Isaacs, A; + view all
(2018)
Common and Rare Coding Genetic Variation Underlying the Electrocardiographic PR Interval.
Circulation: Genomic and Precision Medicine
, 11
(5)
, Article e002037. 10.1161/CIRCGEN.117.002037.
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Manole, A;
Efthymiou, S;
O'Connor, E;
Mendes, MI;
Jennings, M;
Maroofian, R;
Davagnanam, I;
... Houlden, H; + view all
(2020)
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
American Journal of Human Genetics
, 107
(2)
pp. 311-324.
10.1016/j.ajhg.2020.06.016.
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Maurer, Constance;
Boleti, Olga;
Najarzadeh Torbati, Paria;
Norouzi, Farzaneh;
Fowler, Anna Nicole Rebekah;
Minaee, Shima;
Salih, Khalid Hama;
... Jamshidi, Yalda; + view all
(2023)
Genetic Insights from Consanguineous Cardiomyopathy Families.
Genes
, 14
(1)
, Article 182. 10.3390/genes14010182.
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Neuray, C;
Maroofian, R;
Scala, M;
Sultan, T;
Pai, GS;
Mojarrad, M;
El Khashab, H;
... Houlden, H; + view all
(2020)
Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants.
Brain
10.1093/brain/awaa178.
(In press).
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Nolte, IM;
Jansweijer, JA;
Riese, H;
Asselbergs, FW;
van der Harst, P;
Spector, TD;
Pinto, YM;
... Jamshidi, Y; + view all
(2017)
A Comparison of Heritability Estimates by Classical Twin Modeling and Based on Genome-Wide Genetic Relatedness for Cardiac Conduction Traits.
Twin Research and Human Genetics
, 20
(6)
pp. 489-498.
10.1017/thg.2017.55.
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Nolte, IM;
Wallace, C;
Newhouse, SJ;
Waggott, D;
Fu, JY;
Soranzo, N;
Gwilliam, R;
... QTSCD Consortium; + view all
(2009)
Common Genetic Variation Near the Phospholamban Gene Is Associated with Cardiac Repolarisation: Meta-Analysis of Three Genome-Wide Association Studies.
PLOS ONE
, 4
(7)
, Article e6138. 10.1371/journal.pone.0006138.
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Ntalla, I;
Weng, L-C;
Cartwright, JH;
Hall, AW;
Sveinbjornsson, G;
Tucker, NR;
Choi, SH;
... Munroe, PB; + view all
(2020)
Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction.
Nature Communications
, 11
(1)
, Article 2542. 10.1038/s41467-020-15706-x.
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Prins, BP;
Abbasi, A;
Wong, A;
Vaez, A;
Nolte, I;
Franceschini, N;
Stuart, PE;
... Alizadeh, BZ; + view all
(2016)
Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization Study.
PLoS Medicine
, 13
(6)
, Article e1001976. 10.1371/journal.pmed.1001976.
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Prins, BP;
Mead, TJ;
Brody, JA;
Sveinbjornsson, G;
Ntalla, I;
Bihlmeyer, NA;
van den Berg, M;
... Jamshidi, Y; + view all
(2018)
Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6.
Genome Biology
, 19
, Article 87. 10.1186/s13059-018-1457-6.
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Ross, JA;
Webster, RG;
Lechertier, T;
Reynolds, LE;
Turmaine, M;
Bencze, M;
Jamshidi, Y;
... Conti, FJ; + view all
(2017)
Multiple roles of integrin-α3 at the neuromuscular junction.
Journal of Cell Science
, 130
(10)
pp. 1772-1784.
10.1242/jcs.201103.
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Scala, M;
Chua, GL;
Chin, CF;
Alsaif, HS;
Borovikov, A;
Riazuddin, S;
Riazuddin, S;
... Silver, DL; + view all
(2020)
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features.
European Journal of Human Genetics
, 28
pp. 1509-1519.
10.1038/s41431-020-0669-x.
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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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van den Berg, ME;
Warren, HR;
Cabrera, CP;
Verweij, N;
Mifsud, B;
Haessler, J;
Bihlmeyer, NA;
... Munroe, PB; + view all
(2017)
Discovery of novel heart rate-associated loci using the Exome Chip.
Human Molecular Genetics
, 26
(12)
pp. 2346-2363.
10.1093/hmg/ddx113.
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van der Harst, P;
van Setten, J;
Verweij, N;
Vogler, G;
Franke, L;
Maurano, MT;
Wang, X;
... de Bakker, PIW; + view all
(2016)
52 Genetic Loci Influencing Myocardial Mass.
Journal of the American College of Cardiology
, 68
(13)
pp. 1435-1448.
10.1016/j.jacc.2016.07.729.
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van Setten, J;
Brody, JA;
Jamshidi, Y;
Swenson, BR;
Butler, AM;
Campbell, H;
Del Greco, FM;
... Sotoodehnia, N; + view all
(2018)
PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity.
Nature Communications
, 9
(1)
, Article 2904. 10.1038/s41467-018-04766-9.
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van Setten, J;
Verweij, N;
Mbarek, H;
Niemeijer, MN;
Trompet, S;
Arking, DE;
Brody, JA;
... Isaacs, A; + view all
(2019)
Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits.
European Journal of Human Genetics
10.1038/s41431-018-0295-z.
(In press).
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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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Wang, H;
Kaçar Bayram, A;
Sprute, R;
Ozdemir, O;
Cooper, E;
Pergande, M;
Efthymiou, S;
... Cirak, S; + view all
(2019)
Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking.
Frontiers in Neuroscience
, 13
, Article 974. 10.3389/fnins.2019.00974.
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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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Young, William J;
Lahrouchi, Najim;
Isaacs, Aaron;
Duong, ThuyVy;
Foco, Luisa;
Ahmed, Farah;
Brody, Jennifer A;
... Munroe, Patricia B; + view all
(2022)
Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways.
Nature Communications
, 13
, Article 5144. 10.1038/s41467-022-32821-z.
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