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Number of items: 137.
A
Abarrategi, A;
Gambera, S;
Alfranca, A;
Rodriguez-Milla, MA;
Perez-Tavarez, R;
Rouault-Pierre, K;
Waclawiczek, A;
... García-Castro, J; + view all
(2018)
c-Fos induces chondrogenic tumor formation in immortalized human mesenchymal progenitor cells.
Scientific Reports
, 8
, Article 15615. 10.1038/s41598-018-33689-0.
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Abarrategi, A;
Mian, SA;
Passaro, D;
Rouault-Pierre, K;
Grey, W;
Bonnet, D;
(2018)
Modeling the human bone marrow niche in mice: From host bone marrow engraftment to bioengineering approaches.
Journal of Experimental Medicine
, 215
(3)
pp. 729-743.
10.1084/jem.20172139.
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Aguti, S;
Malerba, A;
Zhou, H;
(2018)
The progress of AAV-mediated gene therapy in neuromuscular disorders.
Expert Opinion on Biological Therapy
, 18
(6)
pp. 681-693.
10.1080/14712598.2018.1479739.
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Al-Olabi, L;
Polubothu, S;
Dowsett, K;
Andrews, KA;
Stadnik, P;
Joseph, AP;
Knox, R;
... Kinsler, VA; + view all
(2018)
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.
The Journal of Clinical Investigation
, 128
(4)
pp. 1496-1508.
10.1172/JCI98589.
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Aldossary, Ahmad Mohammad;
(2018)
Correction of the ΔF508 mutation in the CFTR Gene by CRISPR/Cas9 system.
Doctoral thesis (Ph.D), UCL (University College London).
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Anttila, V;
Bulik-Sullivan, B;
Finucane, HK;
Walters, RK;
Bras, J;
Duncan, L;
Escott-Price, V;
... Neale, BM; + view all
(2018)
Analysis of shared heritability in common disorders of the brain.
Science
, 360
(6395)
, Article eaap8757. 10.1126/science.aap8757.
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Apps, JR;
Carreno, G;
Mario Gonzalez-Meljem, J;
Haston, S;
Guiho, R;
Cooper, JE;
Manshaei, S;
... Martinez-Barbera, JP; + view all
(2018)
Tumour compartment transcriptomics demonstrates the activation of inflammatory and odontogenic programmes in human adamantinomatous craniopharyngioma and identifies the MAPK/ERK pathway as a novel therapeutic target.
Acta Neuropathologica
, 135
(5)
pp. 757-777.
10.1007/s00401-018-1830-2.
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Augustin, K;
Khabbush, A;
Williams, S;
Eaton, SJ;
Orford, M;
Cross, H;
Heales, SJ;
... Williams, R; + view all
(2018)
Mechanisms of action for the medium-chain triglyceride ketogenic diet in neurological and metabolic disorders.
The Lancet Neurology
, 17
(1)
pp. 84-93.
10.1016/S1474-4422(17)30408-8.
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B
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Baruteau, J;
Perocheau, DP;
Hanley, J;
Lorvellec, M;
Rocha-Ferreira, E;
Karda, R;
Ng, J;
... Waddington, SN; + view all
(2018)
Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer.
Nature Communications
, 9
(1)
, Article 3505. 10.1038/s41467-018-05972-1.
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Bashamboo, A;
Eozenou, C;
Jorgensen, A;
Bignon-Topalovic, J;
Siffroi, J-P;
Hyon, C;
Tar, A;
... McElreavey, K; + view all
(2018)
Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children.
The American Journal of Human Genetics
, 102
(3)
pp. 487-493.
10.1016/j.ajhg.2018.01.021.
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Besser, REJ;
Ludvigsson, J;
Hindmarsh, PC;
Cole, TJ;
(2018)
Exploring C-peptide loss in type 1 diabetes using growth curve analysis.
PLoS ONE
, 13
(7)
, Article e0199635. 10.1371/journal.pone.0199635.
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Best, S;
Shoemark, A;
Rubbo, B;
Patel, MP;
Fassad, MR;
Dixon, M;
Rogers, AV;
... Hogg, C; + view all
(2018)
Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia.
Thorax
, 74
(2)
10.1136/thoraxjnl-2018-212104.
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Blauwendraat, C;
Kia, DA;
Pihlstrom, L;
Gan-Or, Z;
Lesage, S;
Gibbs, JR;
Ding, J;
... Wood, NW; + view all
(2018)
Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease.
Neurobiology of Aging
, 64
159.e5-159.e8.
10.1016/j.neurobiolaging.2017.12.012.
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Blauwendraat, C;
Reed, X;
Kia, DA;
Gan-Or, Z;
Lesage, S;
Pihlstrøm, L;
Guerreiro, R;
... COURAGE-PD (Comprehensive Unbiased Risk Factor Assessment for Ge; + view all
(2018)
Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease.
JAMA Neurology
10.1001/jamaneurol.2018.1885.
(In press).
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Blundell, J;
Frisson, S;
Chakrapani, A;
Gissen, P;
Hendriksz, C;
Vijay, S;
Olson, A;
(2018)
Oculomotor abnormalities in children with Niemann-Pick type C.
Molecular Genetics and Metabolism
, 123
(2)
pp. 159-168.
10.1016/j.ymgme.2017.11.004.
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Blundell, J;
Frisson, S;
Chakrapani, A;
Kearney, S;
Vijay, S;
MacDonald, A;
Gissen, P;
... Olson, A; + view all
(2018)
Markers of cognitive function in individuals with metabolic disease: Morquio syndrome and tyrosinemia type III.
Cognitive Neuropsychology
, 35
(3-4)
pp. 120-147.
10.1080/02643294.2018.1443913.
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Broce, I;
Karch, CM;
Wen, N;
Fan, CC;
Wang, Y;
Tan, CH;
Kouri, N;
... Sugrue, LP; + view all
(2018)
Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies.
PLoS Medicine
, 15
(1)
, Article e1002487. 10.1371/journal.pmed.1002487.
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Brookes, KJ;
McConnell, G;
Williams, K;
Chaudhury, S;
Madhan, G;
Patel, T;
Turley, C;
... Morgan, K; + view all
(2018)
Genotyping of the Alzheimer's Disease Genome-Wide Association Study Index Single Nucleotide Polymorphisms in the Brains for Dementia Research Cohort.
Journal of Alzheimer's Disease
, 64
(2)
pp. 355-362.
10.3233/JAD-180191.
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Bryant, D;
Liu, Y;
Datta, S;
Hariri, H;
Seda, M;
Anderson, G;
Peskett, E;
... Stanier, PM; + view all
(2018)
SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20.
Human Molecular Genetics
, 27
(11)
pp. 1927-1940.
10.1093/hmg/ddy101.
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C
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Calmont, A;
Anderson, N;
Suntharalingham, JP;
Ang, R;
Tinker, A;
Scambler, PJ;
(2018)
Defective Vagal Innervation in Murine Tbx1 Mutant Hearts.
Journal of Cardiovascular Development and Disease
, 5
(4)
, Article 49. 10.3390/jcdd5040049.
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Captur, G;
Arbustini, E;
Bonne, G;
Syrris, P;
Mills, K;
Wahbi, K;
Mohiddin, SA;
... Moon, JC; + view all
(2018)
Lamin and the heart.
Heart
, 104
(6)
pp. 468-479.
10.1136/heartjnl-2017-312338.
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Cetinkaya, S;
Guran, T;
Kurnaz, E;
Keskin, M;
Sagsak, E;
Erdeve, SS;
Suntharalingham, JP;
... Aycan, Z; + view all
(2018)
A Patient with Proopiomelanocortin Deficiency: An Increasingly Important Diagnosis to Make.
Journal of Clinical Research in Pediatric Endocrinology
, 10
(1)
pp. 68-73.
10.4274/jcrpe.4638.
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Chagraoui, H;
Kristiansen, MS;
Ruiz, JP;
Serra-Barros, A;
Richter, J;
Hall-Ponselé, E;
Gray, N;
... Porcher, C; + view all
(2018)
SCL/TAL1 cooperates with Polycomb RYBP-PRC1 to suppress alternative lineages in blood-fated cells.
Nature Communications
, 9
, Article 5375. 10.1038/s41467-018-07787-6.
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Chandler, N;
Best, S;
Hayward, J;
Faravelli, F;
Mansour, S;
Kivuva, E;
Tapon, D;
... Chitty, LS; + view all
(2018)
Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management.
Genetics in Medicine
, 20
pp. 1430-1437.
10.1038/gim.2018.30.
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Clayton, PT;
Mills, PB;
(2018)
Micronutrients: Speculation on Inborn Errors, Nutrigenomics, Evolution, the Microbiome, and Nutritional Immunity.
Journal of Inborn Errors of Metabolism and Screening
, 6
(1-5)
10.1177/2326409818765011.
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Coats, CJ;
Heywood, WE;
Virasami, A;
Ashrafi, N;
Syrris, P;
dos Remedios, C;
Treibel, TA;
... Elliott, PM; + view all
(2018)
Proteomic Analysis of the Myocardium in Hypertrophic Obstructive Cardiomyopathy.
Circulation: Genomic and Precision Medicine
, 11
(12)
, Article e001974. 10.1161/CIRCGEN.117.001974.
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Counsell, JR;
Karda, R;
Diaz, JA;
Carey, L;
Wiktorowicz, T;
Buckley, SMK;
Ameri, S;
... Howe, SJ; + view all
(2018)
Foamy Virus Vectors Transduce Visceral Organs and Hippocampal Structures following In Vivo Delivery to Neonatal Mice.
Molecular Therapy - Nucleic Acids
, 12
pp. 626-634.
10.1016/j.omtn.2018.07.006.
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D
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Danyukova, T;
Ariunbat, K;
Thelen, M;
Brocke-Ahmadinejad, N;
Mole, SE;
Storch, S;
(2018)
Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation.
Human Molecular Genetics
, 27
(10)
pp. 1711-1722.
10.1093/hmg/ddy076.
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Davies, Rosalind Jane;
(2018)
Advancing our understanding of the ciliopathy, Bardet-Biedl Syndrome: an omics approach.
Doctoral thesis (Ph.D), UCL (University College London).
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Davy, T;
Castellano, S;
(2018)
The genomics of selenium: Its past, present and future.
Biochimica et Biophysica Acta (BBA) - General Subjects
, 1862
(11)
pp. 2427-2432.
10.1016/j.bbagen.2018.05.020.
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de la Rosa Carrillo, D;
Vindenes, H;
Kinsler, VA;
Rønnestad, A;
Ringstad, G;
Müller, L-SO;
Tafjord, S;
... Clausen, OPF; + view all
(2018)
Aggressive melanoma in an infant with congenital melanocytic nevus syndrome and multiple, NRAS and BRAF mutation‐negative nodules.
Pediatric Dermatology
, 35
(5)
e281-e285.
10.1111/pde.13595.
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de Rooy, RLP;
Halbertsma, FJ;
Struijs, EA;
van Spronsen, FJ;
Lunsing, RJ;
Schippers, HM;
van Hasselt, PM;
... Bok, LA; + view all
(2018)
Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?
European Journal of Paediatric Neurology
, 22
(4)
pp. 662-666.
10.1016/j.ejpn.2018.03.009.
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Doreste Gonzalez, Bruno;
(2018)
The effect of modulating the dystrophic skeletal muscle environment on satellite cell engraftment.
Doctoral thesis (Ph.D), UCL (University College London).
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E
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Eastlake, K;
Heywood, WE;
Banerjee, P;
Bliss, E;
Mills, K;
Khaw, P;
Charteris, D;
(2018)
Comparative proteomic analysis of normal and gliotic PVR retina and contribution of Müller glia to this profile.
Experimental Eye Research
, 177
pp. 197-207.
10.1016/j.exer.2018.08.016.
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F
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Farley, H;
Rubbo, B;
Bukowy-Bieryllo, Z;
Fassad, M;
Goutaki, M;
Harman, K;
Hogg, C;
... Marthin, JK; + view all
(2018)
Proceedings of the 3rd BEAT-PCD Conference and 4th PCD Training School.
In:
Proceedings of the 3rd BEAT-PCD Conference and 4th PCD Training School.
BMC (BioMed Central): London, UK.
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Farmery, JHR;
Smith, ML;
Lynch, AG;
Huissoon, A;
Furnell, A;
Mead, A;
Levine, AP;
... Tan, Y; + view all
(2018)
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data (vol 8, 1300, 2018).
Scientific Reports
, 8
, Article 13376. 10.1038/s41598-018-31524-0.
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Farmery, JHR;
Smith, ML;
NIHR BioResource - Rare Diseases, .;
Lynch, AG;
Mead, A;
Levine, AP;
Manzur, A;
... Huissoon, A; + view all
(2018)
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data.
Scientific Reports
, 8
, Article 1300. 10.1038/s41598-017-14403-y.
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Fassad, Mahmoud Raafat;
(2018)
Novel Gene Discovery in Primary Ciliary Dyskinesia.
Doctoral thesis (Ph.D), UCL (University College London).
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Fassad, MR;
Shoemark, A;
le Borgne, P;
Koll, F;
Patel, M;
Dixon, M;
Hayward, J;
... Mitchison, HM; + view all
(2018)
C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia.
The American Journal of Human Genetics
, 102
(5)
pp. 956-972.
10.1016/j.ajhg.2018.03.024.
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Fassad, MR;
Shoemark, A;
Legendre, M;
Hirst, RA;
Koll, F;
le Borgne, P;
Louis, B;
... Mitchison, HM; + view all
(2018)
Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus.
The American Journal of Human Genetics
10.1016/j.ajhg.2018.10.016.
(In press).
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Fernando, O;
Tagalakis, AD;
Shiekh Hassan Awwad, S;
Brocchini, S;
Khaw, PT;
Hart, S;
Yu-Wai-Man, C;
(2018)
Development of targeted siRNA nanocomplexes to prevent fibrosis in experimental glaucoma filtration surgery.
Molecular Therapy
, 26
(12)
pp. 2812-2822.
10.1016/j.ymthe.2018.09.004.
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Forsythe, E;
Kenny, J;
Bacchelli, C;
Beales, PL;
(2018)
Managing Bardet-Biedl Syndrome-Now and in the Future.
Frontiers in Pediatrics
, 6
, Article 23. 10.3389/fped.2018.00023.
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Fratta, P;
Sivakumar, P;
Humphrey, J;
Lo, K;
Ricketts, T;
Oliveira, H;
Brito-Armas, JM;
... Acevedo-Arozena, A; + view all
(2018)
Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis.
EMBO Journal
, 2018
, Article e98684. 10.15252/embj.201798684.
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G
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Gagunashvili, AN;
Andrésson, OS;
(2018)
Distinctive characters of Nostoc genomes in cyanolichens.
BMC Genomics
, 19
, Article 434. 10.1186/s12864-018-4743-5.
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Gambera, S;
Abarrategi, A;
González-Camacho, F;
Morales-Molina, Á;
Roma, J;
Alfranca, A;
García-Castro, J;
(2018)
Clonal dynamics in osteosarcoma defined by RGB marking.
Nature Communications
, 9
(1)
, Article 3994. 10.1038/s41467-018-06401-z.
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Gambera, S;
Abarrategi, A;
Rodríguez-Milla, MA;
Mulero, F;
Menéndez, ST;
Rodriguez, R;
Navarro, S;
(2018)
Role of Activator Protein-1 Complex on the Phenotype of Human Osteosarcomas Generated from Mesenchymal Stem Cells.
Stem Cells
, 36
(10)
pp. 1487-1500.
10.1002/stem.2869.
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Garone, C;
Taylor, RW;
Nascimento, A;
Poulton, J;
Fratter, C;
Dominguez-Gonzalez, C;
Evans, JC;
... Hirano, M; + view all
(2018)
Retrospective natural history of thymidine kinase 2 deficiency.
Journal of Medical Genetics
, 55
(8)
pp. 515-521.
10.1136/jmedgenet-2017-105012.
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Geberhiwot, T;
Moro, A;
Dardis, A;
Ramaswami, U;
Sirrs, S;
Marfa, MP;
Vanier, MT;
... Patterson, M; + view all
(2018)
Consensus clinical management guidelines for Niemann-Pick disease type C.
Orphanet Journal of Rare Diseases
, 13
, Article 50. 10.1186/s13023-018-0785-7.
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H
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Hargreaves, I;
Mody, N;
Land, J;
Heales, S;
(2018)
Blood Mononuclear Cell Mitochondrial Respiratory Chain Complex IV Activity Is Decreased in Multiple Sclerosis Patients: Effects of β-Interferon Treatment.
Journal of Clinical Medicine
, 7
(2)
, Article 36. 10.3390/jcm7020036.
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Harrison, P;
Hart, S;
(2018)
Gene editing and gene regulation with CRISPR.
Experimental Physiology
, 103
(4)
pp. 437-438.
10.1113/EP086864.
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Harrison, PT;
Hart, S;
(2018)
A beginner's guide to gene editing.
Experimental Physiology
, 103
(4)
pp. 439-448.
10.1113/EP086047.
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Heywood, WE;
Hallqvist, J;
Heslegrave, AJ;
Zetterberg, H;
Fenoglio, C;
Scarpini, E;
Rohrer, JD;
... Mills, K; + view all
(2018)
CSF pro-orexin and amyloid-β38 expression in Alzheimer's disease and frontotemporal dementia.
Neurobiology of Aging
, 72
pp. 171-176.
10.1016/j.neurobiolaging.2018.08.019.
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Hikmat, O;
Naess, K;
Engvall, M;
Klingenberg, C;
Rasmussen, M;
Tallaksen, CME;
Brodtkorb, E;
... Bindoff, LA; + view all
(2018)
Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implications.
Epilepsia
, 59
(8)
pp. 1595-1602.
10.1111/epi.14459.
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I
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Ip, HF;
Jansen, R;
Abdellaoui, A;
Bartels, M;
UK Brain Expression Consortium, .;
Boomsma, DI;
Nivard, MG;
(2018)
Characterizing the Relation Between Expression QTLs and Complex Traits: Exploring the Role of Tissue Specificity.
Behavior Genetics
, 48
(5)
pp. 374-385.
10.1007/s10519-018-9914-2.
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Irving, S;
Dixon, M;
Fassad, MR;
Frost, E;
Hayward, J;
Kilpin, K;
Ollosson, S;
... Bush, A; + view all
(2018)
Primary Ciliary Dyskinesia Due to Microtubular Defects is Associated with Worse Lung Clearance Index.
Lung
, 196
(2)
pp. 231-238.
10.1007/s00408-018-0086-x.
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Ishida, M;
Cullup, T;
Boustred, C;
James, C;
Docker, J;
English, C;
GOSgene, .;
... Stanier, PM; + view all
(2018)
A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly.
Clinical Genetics
, 93
(4)
pp. 870-879.
10.1111/cge.13189.
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Ito, Y;
Carss, KJ;
Duarte, ST;
Hartley, T;
Keren, B;
Kurian, MA;
Marey, I;
... Revel-Vilk, S; + view all
(2018)
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.
American Journal of Human Genetics
, 103
(1)
pp. 144-153.
10.1016/j.ajhg.2018.06.001.
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J
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Jabbari, E;
Woodside, J;
Tan, MMX;
Shoai, M;
Pittman, A;
Ferrari, R;
Mok, KY;
... Morris, HR; + view all
(2018)
Variation at the TRIM11 locus modifies progressive supranuclear palsy phenotype.
Annals of Neurology
, 84
(4)
pp. 485-496.
10.1002/ana.25308.
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Johannsson, G;
Bidlingmaier, M;
Biller, BMK;
Boguszewski, M;
Casanueva, FF;
Chanson, P;
Clayton, PE;
... Jorgensen, JOL; + view all
(2018)
Growth hormone research society perspective on biomarkers of gh action in children and adults.
Endocrine Connections
, 7
(3)
R126-R134.
10.1530/EC-18-0047.
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K
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Karamitros, D;
Stoilova, B;
Aboukhalil, Z;
Hamey, F;
Reinisch, A;
Samitsch, M;
Quek, L;
... Vyas, P; + view all
(2018)
Single-cell analysis reveals the continuum of human lympho-myeloid progenitor cells.
Nature Immunologyvolume
, 19
pp. 85-97.
10.1038/s41590-017-0001-2.
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Karampetsou, Evangelia;
(2018)
A novel arrayCGH-based non-invasive prenatal test for common trisomies.
Doctoral thesis (Ph.D), UCL (University College London).
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Karch, CM;
Wen, N;
Fan, CC;
Yokoyama, JS;
Kouri, N;
Ross, OA;
Höglinger, G;
... International Frontotemporal Dementia (FTD)–Genomics Consortium,; + view all
(2018)
Selective Genetic Overlap Between Amyotrophic Lateral Sclerosis and Diseases of the Frontotemporal Dementia Spectrum.
JAMA Neurol
10.1001/jamaneurol.2018.0372.
(In press).
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Keshavan, N;
Rahman, S;
(2018)
Natural history of mitochondrial disorders: a systematic review.
Essays In Biochemistry
, 62
(3)
pp. 423-442.
10.1042/EBC20170108.
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Klammt, J;
Neumann, D;
Gevers, EF;
Andrew, SF;
Schwartz, ID;
Rockstroh, D;
Colombo, R;
... Hwa, V; + view all
(2018)
Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation.
Nature Communications
, 9
(1)
, Article 2105. 10.1038/s41467-018-04521-0.
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Kleine Holthaus, S-M;
Ribeiro, J;
Abelleira-Hervas, L;
Pearson, RA;
Duran, Y;
Georgiadis, A;
Sampson, RD;
... Ali, RR; + view all
(2018)
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