Vincent Plagnol

Vincent Plagnol

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Vincent Plagnol

Publications by authors named "Vincent Plagnol"

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Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy.

J Allergy Clin Immunol 2019 Jun 13. Epub 2019 Jun 13.

Adult Immunodeficiency Unit, Infectious Diseases, Inflammation Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Rare Diseases Center and Pediatric Research Center, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2019.06.003DOI Listing
June 2019

GWAS and colocalization analyses implicate carotid intima-media thickness and carotid plaque loci in cardiovascular outcomes.

Authors:
Nora Franceschini Claudia Giambartolomei Paul S de Vries Chris Finan Joshua C Bis Rachael P Huntley Ruth C Lovering Salman M Tajuddin Thomas W Winkler Misa Graff Maryam Kavousi Caroline Dale Albert V Smith Edith Hofer Elisabeth M van Leeuwen Ilja M Nolte Lingyi Lu Markus Scholz Muralidharan Sargurupremraj Niina Pitkänen Oscar Franzén Peter K Joshi Raymond Noordam Riccardo E Marioni Shih-Jen Hwang Solomon K Musani Ulf Schminke Walter Palmas Aaron Isaacs Adolfo Correa Alan B Zonderman Albert Hofman Alexander Teumer Amanda J Cox André G Uitterlinden Andrew Wong Andries J Smit Anne B Newman Annie Britton Arno Ruusalepp Bengt Sennblad Bo Hedblad Bogdan Pasaniuc Brenda W Penninx Carl D Langefeld Christina L Wassel Christophe Tzourio Cristiano Fava Damiano Baldassarre Daniel H O'Leary Daniel Teupser Diana Kuh Elena Tremoli Elmo Mannarino Enzo Grossi Eric Boerwinkle Eric E Schadt Erik Ingelsson Fabrizio Veglia Fernando Rivadeneira Frank Beutner Ganesh Chauhan Gerardo Heiss Harold Snieder Harry Campbell Henry Völzke Hugh S Markus Ian J Deary J Wouter Jukema Jacqueline de Graaf Jacqueline Price Janne Pott Jemma C Hopewell Jingjing Liang Joachim Thiery Jorgen Engmann Karl Gertow Kenneth Rice Kent D Taylor Klodian Dhana Lambertus A L M Kiemeney Lars Lind Laura M Raffield Lenore J Launer Lesca M Holdt Marcus Dörr Martin Dichgans Matthew Traylor Matthias Sitzer Meena Kumari Mika Kivimaki Mike A Nalls Olle Melander Olli Raitakari Oscar H Franco Oscar L Rueda-Ochoa Panos Roussos Peter H Whincup Philippe Amouyel Philippe Giral Pramod Anugu Quenna Wong Rainer Malik Rainer Rauramaa Ralph Burkhardt Rebecca Hardy Reinhold Schmidt Renée de Mutsert Richard W Morris Rona J Strawbridge S Goya Wannamethee Sara Hägg Sonia Shah Stela McLachlan Stella Trompet Sudha Seshadri Sudhir Kurl Susan R Heckbert Susan Ring Tamara B Harris Terho Lehtimäki Tessel E Galesloot Tina Shah Ulf de Faire Vincent Plagnol Wayne D Rosamond Wendy Post Xiaofeng Zhu Xiaoling Zhang Xiuqing Guo Yasaman Saba Abbas Dehghan Adrie Seldenrijk Alanna C Morrison Anders Hamsten Bruce M Psaty Cornelia M van Duijn Deborah A Lawlor Dennis O Mook-Kanamori Donald W Bowden Helena Schmidt James F Wilson James G Wilson Jerome I Rotter Joanna M Wardlaw John Deanfield Julian Halcox Leo-Pekka Lyytikäinen Markus Loeffler Michele K Evans Stéphanie Debette Steve E Humphries Uwe Völker Vilmundur Gudnason Aroon D Hingorani Johan L M Björkegren Juan P Casas Christopher J O'Donnell

Nat Commun 2018 12 3;9(1):5141. Epub 2018 Dec 3.

Intramural Administration Management Branch, National Heart, Lung, and Blood Institute, NIH, Bethesda, MD, 20892, USA.

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http://dx.doi.org/10.1038/s41467-018-07340-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6277418PMC
December 2018

Effects of Collection and Processing Procedures on Plasma Circulating Cell-Free DNA from Cancer Patients.

J Mol Diagn 2018 11 28;20(6):883-892. Epub 2018 Aug 28.

Cancer Research UK Cambridge Institute, Li Ka Shing Centre, Robinson Way, University of Cambridge, Cambridge, United Kingdom; Cancer Research UK Major Centre, Cambridge, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2018.07.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6197164PMC
November 2018

A Transcriptomic Signature of the Hypothalamic Response to Fasting and BDNF Deficiency in Prader-Willi Syndrome.

Cell Rep 2018 03;22(13):3401-3408

University of Cambridge Metabolic Research Laboratories and NIHR Cambridge Biomedical Research Centre, Wellcome Trust-MRC Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2018.03.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5896230PMC
March 2018

Familial Limbal Stem Cell Deficiency: Clinical, Cytological and Genetic Characterization.

Stem Cell Rev 2018 02;14(1):148-151

Research Unit for Rare Diseases; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, Praha 2, 128 08, Prague, Czech Republic.

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http://link.springer.com/10.1007/s12015-017-9780-y
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http://dx.doi.org/10.1007/s12015-017-9780-yDOI Listing
February 2018

Quantitative analysis of cryptic splicing associated with TDP-43 depletion.

BMC Med Genomics 2017 05 26;10(1):38. Epub 2017 May 26.

University College London Genetics Institute, Gower Street, London, UK.

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http://dx.doi.org/10.1186/s12920-017-0274-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5446763PMC
May 2017

Bidirectional nucleolar dysfunction in C9orf72 frontotemporal lobar degeneration.

Acta Neuropathol Commun 2017 04 18;5(1):29. Epub 2017 Apr 18.

Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1186/s40478-017-0432-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5395972PMC
April 2017

Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa.

JAMA Ophthalmol 2017 Feb;135(2):137-144

Moorfields Eye Hospital, London, England2University College London Institute of Ophthalmology, London, England.

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http://dx.doi.org/10.1001/jamaophthalmol.2016.5213DOI Listing
February 2017

The ophthalmic presentation of Hermansky-Pudlak syndrome 6.

Br J Ophthalmol 2016 Nov 28;100(11):1521-1524. Epub 2016 Jan 28.

University College London Institute of Ophthalmology, London, UK.

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http://dx.doi.org/10.1136/bjophthalmol-2015-308067DOI Listing
November 2016

Genetic Complexity of Crohn's Disease in Two Large Ashkenazi Jewish Families.

Gastroenterology 2016 10 1;151(4):698-709. Epub 2016 Jul 1.

Division of Medicine, University College London (UCL), London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1053/j.gastro.2016.06.040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5643259PMC
October 2016

A Frameshift in CSF2RB Predominant Among Ashkenazi Jews Increases Risk for Crohn's Disease and Reduces Monocyte Signaling via GM-CSF.

Gastroenterology 2016 10 1;151(4):710-723.e2. Epub 2016 Jul 1.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York; Division of Gastroenterology, Icahn School of Medicine at Mount Sinai, New York, New York; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York. Electronic address:

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http://dx.doi.org/10.1053/j.gastro.2016.06.045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5037012PMC
October 2016

Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis.

Haematologica 2016 10 9;101(10):1180-1189. Epub 2016 Sep 9.

Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, Barts NHS Trust, London, UK.

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http://dx.doi.org/10.3324/haematol.2016.147769DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5046647PMC
October 2016

Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy.

JAMA Ophthalmol 2016 Sep;134(9):992-1000

UCL (University College of London) Institute of Ophthalmology, London, England2Moorfields Eye Hospital, London, England.

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http://dx.doi.org/10.1001/jamaophthalmol.2016.2089DOI Listing
September 2016

Expanding the Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction.

JAMA Ophthalmol 2016 Sep;134(9):1049-53

Institute of Ophthalmology, University College London, London, England2Moorfields Eye Hospital, London, England7Department of Ophthalmology, University of California, San Francisco.

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http://dx.doi.org/10.1001/jamaophthalmol.2015.5833DOI Listing
September 2016

Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3).

JAMA Ophthalmol 2016 Aug;134(8):924-7

University College London Institute of Ophthalmology, London, England2Moorfields Eye Hospital, London, England.

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http://dx.doi.org/10.1001/jamaophthalmol.2016.1543DOI Listing
August 2016

Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions.

Am J Hum Genet 2016 08 28;99(2):430-6. Epub 2016 Jul 28.

Centre for Cell Biology and Cutaneous Research, Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.06.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974070PMC
August 2016

DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation.

Am J Hum Genet 2016 07 23;99(1):115-24. Epub 2016 Jun 23.

Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.05.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5005432PMC
July 2016

Common variable immunodeficiency and natural killer cell lymphopenia caused by Ets-binding site mutation in the IL-2 receptor γ (IL2RG) gene promoter.

J Allergy Clin Immunol 2016 Mar 31;137(3):940-2.e4. Epub 2015 Oct 31.

Molecular and Cellular Immunology, Institute of Child Health, University College London, London, United Kingdom; Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom.

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http://dx.doi.org/10.1016/j.jaci.2015.08.049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4774944PMC
March 2016

Post-GWAS methodologies for localisation of functional non-coding variants: ANGPTL3.

Atherosclerosis 2016 Mar 12;246:193-201. Epub 2015 Dec 12.

Department of Cardiovascular Genetics, Institute of Cardiovascular Sciences, University College London, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.atherosclerosis.2015.12.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4773290PMC
March 2016

Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.

Invest Ophthalmol Vis Sci 2016 Mar;57(3):1053-62

University College London Institute of Ophthalmology, London, United Kingdom 2Moorfields Eye Hospital, London, United Kingdom 12Ophthalmology, University of California, San Francisco, California, United States.

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http://dx.doi.org/10.1167/iovs.15-17976DOI Listing
March 2016

CHCHD10 Pro34Ser is not a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia.

Brain 2016 Feb 11;139(Pt 2):e9. Epub 2015 Sep 11.

1 Department of Neurodegenerative Disease, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK 4 Sobell Department of Motor Neuroscience and Movement Disorders, Queen Square, London, WC1N 3BG, UK

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http://dx.doi.org/10.1093/brain/awv223DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5963427PMC
February 2016

Limited Clinical Utility of Non-invasive Prenatal Testing for Subchromosomal Abnormalities.

Am J Hum Genet 2016 Jan 17;98(1):34-44. Epub 2015 Dec 17.

North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3BH, UK; UCL Institute of Child Health, University College London, London WC1N 1EH, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.11.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4716686PMC
January 2016

Variants in KCNJ11 and BAD do not predict response to ketogenic dietary therapies for epilepsy.

Epilepsy Res 2015 Dec 24;118:22-8. Epub 2015 Oct 24.

NIHR University College London Hospitals Biomedical Research Centre, Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, London, United Kingdom; Epilepsy Society, Chalfont St Peter, United Kingdom.

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http://dx.doi.org/10.1016/j.eplepsyres.2015.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4819482PMC
December 2015

Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission.

Brain 2015 Oct 29;138(Pt 10):2834-46. Epub 2015 Jun 29.

1 Mitochondrial Research Group, Genetics and Genomic Medicine, UCL Institute of Child Health, Guilford Street, London, UK 1 Mitochondrial Research Group, Genetics and Genomic Medicine, UCL Institute of Child Health, Guilford Street, London, UK.

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http://dx.doi.org/10.1093/brain/awv182DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5808733PMC
October 2015

Bayesian mixture analysis for metagenomic community profiling.

Bioinformatics 2015 Sep 21;31(18):2930-8. Epub 2015 May 21.

UCL Genetics Institute, University College London, London WC1E 6BT, UK.

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http://dx.doi.org/10.1093/bioinformatics/btv317DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4565032PMC
September 2015

Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL1.

Blood 2015 Sep 29;126(13):1527-35. Epub 2015 Jul 29.

Department of Immunology, Royal Free London NHS Foundation Trust, London, United Kingdom; and University College London Institute of Immunity and Transplantation, London, United Kingdom.

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http://dx.doi.org/10.1182/blood-2014-12-611012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4671330PMC
September 2015

Exome sequencing reveals ADAM9 mutations in a child with cone-rod dystrophy.

Acta Ophthalmol 2015 Aug 28;93(5):e392-3. Epub 2014 Dec 28.

Inherited Eye Diseases, UCL Institute of Ophthalmology, London, UK.

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http://dx.doi.org/10.1111/aos.12592DOI Listing
August 2015

A novel frameshift MSX1 mutation in a Saudi family with autosomal dominant premolar and third molar agenesis.

Arch Oral Biol 2015 Jul 3;60(7):982-8. Epub 2015 Mar 3.

Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, Newark Street, London E1 4AT, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S00039969150005
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http://dx.doi.org/10.1016/j.archoralbio.2015.02.023DOI Listing
July 2015

Recursive splicing in long vertebrate genes.

Nature 2015 May 13;521(7552):371-375. Epub 2015 May 13.

Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1038/nature14466DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4471124PMC
May 2015

Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy.

Invest Ophthalmol Vis Sci 2015 Apr;56(4):2358-65

UCL Institute of Ophthalmology, London, United Kingdom 2Moorfields Eye Hospital, London, United Kingdom 4Ophthalmology Department, Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom 5Department of Ophthalmology, University of Cali.

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http://dx.doi.org/10.1167/iovs.15-16520DOI Listing
April 2015

Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.

Am J Hum Genet 2015 Apr 26;96(4):666-74. Epub 2015 Mar 26.

Medical Genetics Laboratory, INSERM U1112, Institute of Genetics and Medicine of Alsace, Strasbourg Medical School, University of Strasbourg, 67085 Strasbourg, France; Centre de Référence National pour les Affections Rares en Génétique Ophtalmologique, Hôpitaux Universitaires de Strasbourg, 67091 Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.02.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4385181PMC
April 2015

Detection and correction of artefacts in estimation of rare copy number variants and analysis of rare deletions in type 1 diabetes.

Hum Mol Genet 2015 Mar 25;24(6):1774-90. Epub 2014 Nov 25.

JDRF/Wellcome Trust Diabetes and Inflammation Laboratory, Department of Medical Genetics, NIHR Cambridge Biomedical Research Centre, Cambridge Institute for Medical Research, University of Cambridge, Wellcome Trust/MRC Building, Cambridge Biomedical Campus, Cambridge CB2 0XY, UK,

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http://hmg.oxfordjournals.org/content/early/2014/11/25/hmg.d
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddu581
Publisher Site
http://dx.doi.org/10.1093/hmg/ddu581DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4381751PMC
March 2015

Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation.

J Inherit Metab Dis 2015 Mar 18;38(2):211-9. Epub 2015 Jan 18.

Genetics and Genomic Medicine, UCL Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK.

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http://dx.doi.org/10.1007/s10545-015-9813-0DOI Listing
March 2015

Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.

Am J Hum Genet 2015 Mar 12;96(3):440-7. Epub 2015 Feb 12.

Department of Dermatology, Peking University First Hospital, Beijing 100034, China; Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing 100034, China; Peking-Tsinghua Center for Life Sciences, Beijing 100871, China. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.12.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375526PMC
March 2015

RAPIDR: an analysis package for non-invasive prenatal testing of aneuploidy.

Bioinformatics 2014 Oct 1;30(20):2965-7. Epub 2014 Jul 1.

University College London Genetics Institute, University College London, UK and North East Thames Regional Genetics Service, Great Ormond Street Hospital NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1093/bioinformatics/btu419DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4184262PMC
October 2014

The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype.

Invest Ophthalmol Vis Sci 2014 Sep 30;55(10):6934-44. Epub 2014 Sep 30.

Inherited Eye Diseases, UCL Institute of Ophthalmology, London, United Kingdom Moorfields Eye Hospital, London, United Kingdom.

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http://dx.doi.org/10.1167/iovs.14-14715DOI Listing
September 2014

The effect of inhaled IFN-β on worsening of asthma symptoms caused by viral infections. A randomized trial.

Am J Respir Crit Care Med 2014 Jul;190(2):145-54

1 NIHR Southampton Respiratory Biomedical Research Unit, Clinical and Experimental Sciences, University of Southampton Faculty of Medicine, Southampton, United Kingdom.

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http://dx.doi.org/10.1164/rccm.201312-2235OCDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4226052PMC
July 2014

Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol.

BMC Pregnancy Childbirth 2014 Jul 16;14:229. Epub 2014 Jul 16.

North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, Level 5, York House, 37 Queen Square, London WC1N 3BH, UK.

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http://dx.doi.org/10.1186/1471-2393-14-229DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4226037PMC
July 2014

Widespread RNA metabolism impairment in sporadic inclusion body myositis TDP43-proteinopathy.

Neurobiol Aging 2014 Jun 30;35(6):1491-8. Epub 2013 Dec 30.

MRC Centre for Neuromuscular Disease, UCL Institute of Neurology, London, UK; Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2013.12.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3988933PMC
June 2014

ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function.

Am J Hum Genet 2014 Feb;94(2):246-56

Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK; Barts Health NHS Trust, London E1 1BB, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S00029297140000
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http://dx.doi.org/10.1016/j.ajhg.2014.01.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928664PMC
February 2014