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Number of items: 155.
Article
Abarrategi, A;
Foster, K;
Hamilton, A;
Mian, SA;
Passaro, D;
Gribben, J;
Mufti, G;
(2017)
Versatile humanized niche model enables study of normal and malignant human hematopoiesis.
Journal of Clinical Investigation
, 127
(2)
pp. 543-548.
10.1172/JCI89364.
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Achermann, JC;
Schwabe, J;
Fairall, L;
Chatterjee, K;
(2017)
Genetic disorders of nuclear receptors.
Journal of Clinical Investigation
, 127
(4)
pp. 1181-1192.
10.1172/JCI88892.
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Al Shahrani, M;
Heales, S;
Hargreaves, I;
Orford, M;
(2017)
Oxidative Stress: Mechanistic Insights into Inherited Mitochondrial Disorders and Parkinson's Disease.
Journal Of Clinical Medicine
, 6
(11)
, Article 100. 10.3390/jcm6110100.
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Antony, D;
Nampoory, N;
Bacchelli, C;
Melhem, M;
Wu, K;
James, CT;
Beales, PL;
... Alsmadi, O; + view all
(2017)
Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature.
[Review].
European Journal of Medical Genetics
, 60
(12)
pp. 658-666.
10.1016/j.ejmg.2017.08.019.
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Arber, C;
Angelova, PR;
Wiethoff, S;
Tsuchiya, Y;
Mazzacuva, F;
Preza, E;
Bhatia, KP;
... Wray, S; + view all
(2017)
iPSC-derived neuronal models of PANK2-associated neurodegeneration reveal mitochondrial dysfunction contributing to early disease.
PLoS One
, 12
(9)
, Article e0184104. 10.1371/journal.pone.0184104.
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Arno, G;
Carss, KJ;
Hull, S;
Zihni, C;
Robson, AG;
Fiorentino, A;
Hardcastle, AJ;
... Yu, P; + view all
(2017)
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.
The American Journal of Human Genetics
, 100
(2)
pp. 334-342.
10.1016/j.ajhg.2016.12.014.
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Bacchelli, C;
Moretti, FA;
Carmo, M;
Adams, S;
Stanescu, HC;
Pearce, K;
Madkaikar, M;
... Gaspar, HB; + view all
(2017)
Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency.
Journal of Allergy and Clinical Immunology
, 139
(2)
pp. 634-642.
10.1016/j.jaci.2016.05.036.
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Baranski Lamback, E;
Morandi, G;
Rapti, E;
Christov, G;
Brogan, PA;
Hindmarsh, P;
(2017)
Addison's disease presenting with perimyocarditis.
Journal of Pediatric Endocrinology and Metabolism
, 31
(1)
pp. 101-105.
10.1515/jpem-2017-0278.
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Baruteau, J;
Jameson, E;
Morris, AA;
Chakrapani, A;
Santra, S;
Vijay, S;
Kocadag, H;
... Davison, JE; + view all
(2017)
Expanding the phenotype in argininosuccinic aciduria: need for new therapies.
Journal of Inherited Metabolic Disease
, 40
(3)
pp. 357-368.
10.1007/s10545-017-0022-x.
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Baruteau, J;
Waddington, SN;
Alexander, IE;
Gissen, P;
(2017)
Delivering efficient liver-directed AAV-mediated gene therapy.
Gene Therapy
, 24
(5)
pp. 263-264.
10.1038/gt.2016.90.
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Baruteau, J;
Waddington, SN;
Alexander, IE;
Gissen, P;
(2017)
Gene therapy for monogenic liver diseases: clinical successes, current challenges and future prospects.
Journal of Inherited Metabolic Disease
, 40
(4)
pp. 497-517.
10.1007/s10545-017-0053-3.
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Batllori, M;
Molero-Luis, M;
Ormazabal, A;
Casado, M;
Sierra, C;
Garcia-Cazorla, A;
Kurian, M;
... Artuch, R; + view all
(2017)
Analysis of human cerebrospinal fluid monoamines and their cofactors by HPLC.
Nature Protocols
, 12
(11)
pp. 2359-2375.
10.1038/nprot.2017.103.
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Baud, A;
Wessely, F;
Mazzacuva, F;
McCormick, J;
Camuzeaux, S;
Heywood, WE;
Little, D;
... Mills, K; + view all
(2017)
Multiplex High-Throughput Targeted Proteomic Assay To Identify Induced Pluripotent Stem Cells.
Analytical Chemistry
, 89
(4)
pp. 2440-2448.
10.1021/acs.analchem.6b04368.
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Beesley, C;
Guerreiro, RJ;
Bras, JT;
Williams, RE;
Taratuto, AL;
Eltze, C;
Mole, SE;
(2017)
CLN8 disease caused by large genomic deletions.
Molecular Genetics & Genomic Medicine
, 5
(1)
pp. 85-91.
10.1002/mgg3.263.
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Bernabò, P;
Tebaldi, T;
Groen, EJN;
Lane, FM;
Perenthaler, E;
Mattedi, F;
Newbery, HJ;
... Viero, G; + view all
(2017)
In Vivo Translatome Profiling in Spinal Muscular Atrophy Reveals a Role for SMN Protein in Ribosome Biology.
Cell Reports
, 21
(4)
pp. 953-965.
10.1016/j.celrep.2017.10.010.
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Blauwendraat, C;
Faghri, F;
Pihlstrom, L;
Geiger, JT;
Elbaz, A;
Lesage, S;
Corvol, J-C;
... Scholz, S; + view all
(2017)
NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases.
Neurobiology of Aging
, 57
247.e9-247.e13.
10.1016/j.neurobiolaging.2017.05.009.
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Boldrin, L;
Ross, JA;
Whitmore, C;
Doreste, B;
Beaver, C;
Eddaoudi, A;
Pearce, DJ;
(2017)
The effect of calorie restriction on mouse skeletal muscle is sex, strain and time-dependent.
Science Reports
, 7
(1)
, Article 5160. 10.1038/s41598-017-04896-y.
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Botía, JA;
Vandrovcova, J;
Forabosco, P;
Guelfi, S;
D'Sa, K;
United Kingdom Brain Expression Consortium, .;
Hardy, J;
... Weale, ME; + view all
(2017)
An additional k-means clustering step improves the biological features of WGCNA gene co-expression networks.
BMC Systems Biology
, 11
, Article 47. 10.1186/s12918-017-0420-6.
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Brown, JR;
Roy, S;
Tutill, H;
Williams, R;
Breuer, J;
(2017)
Super-infections and relapses occur in chronic norovirus infections.
Journal of Clinical Virology
, 96
pp. 44-48.
10.1016/j.jcv.2017.09.009.
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Bryant, DT;
Landles, C;
Papadopoulou, AS;
Benjamin, AC;
Duckworth, JK;
Rosahl, T;
Benn, CL;
(2017)
Disruption to schizophrenia-associated gene Fez1 in the hippocampus of HDAC11 knockout mice.
Scientific Reports
, 7
(1)
, Article 11900. 10.1038/s41598-017-11630-1.
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Buonocore, F;
Kühnen, P;
Suntharalingham, JP;
Del Valle, I;
Digweed, M;
Stachelscheid, H;
Khajavi, N;
... Achermann, JC; + view all
(2017)
Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans.
Journal of Clinical Investigation
, 127
(5)
pp. 1700-1713.
10.1172/JCI91913.
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Busam, KJ;
Shah, KN;
Gerami, P;
Sitzman, T;
Jungbluth, AA;
Kinsler, V;
(2017)
Reduced H3K27me3 Expression Is Common in Nodular Melanomas of Childhood Associated With Congenital Melanocytic Nevi But Not in Proliferative Nodules.
The American Journal of Surgical Pathology
, 41
(3)
pp. 396-404.
10.1097/PAS.0000000000000769.
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Carss, KJ;
Arno, G;
Erwood, M;
Stephens, J;
Sanchis-Juan, A;
Hull, S;
Megy, K;
... Raymond, FL; + view all
(2017)
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
American Journal of Human Genetics
, 100
(1)
pp. 75-90.
10.1016/j.ajhg.2016.12.003.
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Casanova, MA;
Monteagudo-Sánchez, A;
Guerineau, LR;
Court, F;
Serrano, IG;
Martorell, L;
Zurriaga, CR;
... Hernando, JM; + view all
(2017)
Maternal mutations of FOXF1 cause Alveolar capillary dysplasia despite not being imprinted.
Human Mutation
, 38
(6)
pp. 615-620.
10.1002/humu.23213.
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Cerbone, M;
Dattani, MT;
(2017)
Progression from isolated growth hormone deficiency to combined pituitary hormone deficiency.
Growth Hormone and IGF Research
, 37
pp. 19-25.
10.1016/j.ghir.2017.10.005.
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Chelban, V;
Patel, N;
Vandrovcova, J;
Zanetti, MN;
Lynch, DS;
Ryten, M;
Botia, JA;
... Houlden, H; + view all
(2017)
Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.
American Journal of Human Genetics
, 100
(6)
pp. 969-977.
10.1016/j.ajhg.2017.05.009.
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Chow, J;
Rahman, J;
Achermann, JC;
Dattani, MT;
Rahman, S;
(2017)
Mitochondrial disease and endocrine dysfunction.
Nature Reviews Endocrinology
, 13
(2)
pp. 92-104.
10.1038/nrendo.2016.151.
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Christiansen, MT;
Hullegie, SJ;
Schutten, M;
Einer-Jensen, K;
Tutill, HJ;
Breuer, J;
Rijnders, BJA;
(2017)
Use of whole genome sequencing in the Dutch Acute HCV in HIV study: focus on transmitted antiviral resistance.
Clinical Microbiology and Infection
, 23
(2)
123.e1-123.e4.
10.1016/j.cmi.2016.09.018.
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Clayton, PT;
(2017)
Inherited disorders of transition metal metabolism: an update.
Journal of Inherited Metabolic Disease
, 40
(4)
pp. 519-529.
10.1007/s10545-017-0030-x.
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Counsell, JR;
Asgarian, Z;
Meng, J;
Ferrer, V;
Vink, CA;
Howe, SJ;
Waddington, SN;
... Danos, O; + view all
(2017)
Lentiviral vectors can be used for full-length dystrophin gene therapy.
Scientific Reports
, 7
, Article 44775. 10.1038/srep44775.
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Dattani, M;
Hawton, K;
Walton-Bethancourth, S;
Rumsby, G;
Raine, J;
(2017)
Growth Hormone With Aromatase Inhibitor May Improve Height in CYP11B1 Congenital Adrenal Hyperplasia.
Pediatrics
, 139
(2)
, Article e20160730. 10.1542/peds.2016-0730.
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Davison, JE;
Rahman, S;
(2017)
Recognition, investigation and management of mitochondrial disease.
Archives of Disease in Childhood
, 102
(11)
pp. 1082-1090.
10.1136/archdischild-2016-311370.
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De La Fuente Barrigon, C;
Burke, D;
Eaton, SJ;
Heales, S;
(2017)
Inhibition of Neuronal Mitochondrial Complex I or Lysosomal Glucocerebrosidase is associated with Increased Dopamine and Serotonin Turnover.
Neurochemistry International
, 109
pp. 94-100.
10.1016/j.neuint.2017.02.013.
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Del Valle, I;
Buonocore, F;
Duncan, AJ;
Lin, L;
Barenco, M;
Parnaik, R;
Shah, S;
... Achermann, JC; + view all
(2017)
A genomic atlas of human adrenal and gonad development [version 1; referees: awaiting peer review].
Wellcome Open Research
, 2
, Article 25. 10.12688/wellcomeopenres.11253.1.
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del Valle, I;
Buonocore, F;
Duncan, AJ;
Lin, L;
Barenco, M;
Parnaik, R;
Shah, S;
... Achermann, JC; + view all
(2017)
A genomic atlas of human adrenal and gonad development [version 2; referees: 4 approved].
Wellcome Open Research
, 2
, Article 25. 10.12688/wellcomeopenres.11253.2.
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Delhove, JM;
Buckley, SM;
Perocheau, DP;
Karda, R;
Arbuthnot, P;
Henderson, NC;
Waddington, SN;
(2017)
Longitudinal in vivo bioimaging of hepatocyte transcription factor activity following cholestatic liver injury in mice.
Scientific Reports
, 7
, Article 41874. 10.1038/srep41874.
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Desai, R;
Frazier, AE;
Durigon, R;
Patel, H;
Jones, AW;
Rosa, ID;
Lake, NJ;
... Spinazzola, A; + view all
(2017)
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.
Brain
, 140
(6)
pp. 1595-1610.
10.1093/brain/awx094.
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Di Tullio, A;
Rouault-Pierre, K;
Abarrategi, A;
Mian, S;
Grey, W;
Gribben, J;
Stewart, A;
... Bonnet, D; + view all
(2017)
The combination of CHK1 inhibitor with G-CSF overrides cytarabine resistance in human acute myeloid leukemia.
Nature Communications
, 8
, Article 1679. 10.1038/s41467-017-01834-4.
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Dubruc, E;
Nadaud, B;
Ruchelli, E;
Heissat, S;
Baruteau, J;
Broue, P;
Debray, D;
... Collardeau-Frachon, S; + view all
(2017)
Relevance of C5b9 immunostaining in the diagnosis of neonatal hemochromatosis.
Pediatric Research
, 81
(5)
pp. 712-721.
10.1038/pr.2017.8.
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Eastlake, K;
Heywood, WE;
Tracey-White, D;
Aquino, E;
Bliss, E;
Vasta, GR;
Mills, K;
... Limb, GA; + view all
(2017)
Comparison of proteomic profiles in the zebrafish retina during experimental degeneration and regeneration.
Scientific Reports
, 7
, Article 44601. 10.1038/srep44601.
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Eichler, F;
Duncan, C;
Musolino, PL;
Orchard, PJ;
De Oliveira, S;
Thrasher, AJ;
Armant, M;
... Williams, DA; + view all
(2017)
Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy.
The New England Journal of Medicine
, 377
pp. 1630-1638.
10.1056/NEJMoa1700554.
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Fazal, SV;
Gomez-Sanchez, JA;
Wagstaff, LJ;
Musner, N;
Otto, G;
Janz, M;
Mirsky, R;
(2017)
Graded elevation of c-Jun in Schwann cells in vivo: gene dosage determines effects on development, re-myelination, tumorigenesis and hypomyelination.
Journal of Neuroscience
, 37
(50)
pp. 12297-12313.
10.1523/JNEUROSCI.0986-17.2017.
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Forsythe, E;
Sparks, K;
Best, S;
Borrows, S;
Hoskins, B;
Sabir, A;
Barrett, T;
... Beales, PL; + view all
(2017)
Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome.
Journal of the American Society of Nephrology
, 28
(3)
pp. 963-970.
10.1681/ASN.2015091029.
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Geissler, JM;
International Parkinson Disease Genomics Consortium members;
Romanos, M;
Gerlach, M;
Berg, D;
Schulte, C;
(2017)
No genetic association between attention-deficit/hyperactivity disorder (ADHD) and Parkinson’s disease in nine ADHD candidate SNPs.
ADHD Attention Deficit and Hyperactivity Disorders
, 9
(2)
pp. 121-127.
10.1007/s12402-017-0219-8.
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Gevers, EF;
Meredith, S;
Shah, P;
Torpiano, J;
Peters, C;
Sebire, NJ;
Slater, O;
... Dattani, MT; + view all
(2017)
Cushing syndrome in a child due to pro-opiomelanocortin (POMC) secretion from a yolk sac tumor.
Eur J Endocrinol
, 176
(2)
K1-K7.
10.1530/EJE-16-0776.
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Griffiths, WJ;
Abdel-Khalik, J;
Crick, PJ;
Ogundare, M;
Shackleton, CH;
Tuschl, K;
Kwok, MK;
... Wang, Y; + view all
(2017)
Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients.
The Journal of Steroid Biochemistry and Molecular Biology
, 169
pp. 77-87.
10.1016/j.jsbmb.2016.03.018.
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Gruber, R;
Rogerson, C;
Windpassinger, C;
Banushi, B;
Straatman-Iwanowska, A;
Hanley, J;
Forneris, F;
... Gissen, P; + view all
(2017)
Autosomal Recessive Keratoderma-Ichthyosis- Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification.
JOURNAL OF INVESTIGATIVE DERMATOLOGY
, 137
(4)
pp. 845-854.
10.1016/j.jid.2016.12.010.
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Hanley, J;
Kumar Dhar, D;
Mazzacuva, F;
Fiadeiro, R;
Burden, JJ;
Lyne, AM;
Smith, H;
... Gissen, P; + view all
(2017)
Vps33b is Crucial for Structural and Functional Hepatocyte Polarity.
Journal of Hepatology
, 66
(5)
pp. 1001-1011.
10.1016/j.jhep.2017.01.001.
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Hart, SL;
(2017)
Prospects for RNA delivery with nanotechnologies.
[Editorial comment].
Gene Therapy
, 24
(3)
p. 121.
10.1038/gt.2017.15.
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Hart, SL;
Harrison, PT;
(2017)
Genetic therapies for cystic fibrosis lung disease.
Current Opinion in Pharmacology
, 34
pp. 119-124.
10.1016/j.coph.2017.10.006.
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Hartill, VL;
van de Hoek, G;
Patel, MP;
Little, R;
Watson, CM;
Berry, IR;
Shoemark, A;
... Johnson, CA; + view all
(2017)
DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport.
Human Molecular Genetics
10.1093/hmg/ddx422.
(In press).
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He, CH;
Black, DS;
Allan, CM;
Meunier, B;
Rahman, S;
Clarke, CF;
(2017)
Human COQ9 Rescues a coq9 Yeast Mutant by Enhancing Coenzyme Q Biosynthesis from 4-Hydroxybenzoic Acid and Stabilizing the CoQ-Synthome.
Frontiers in Physiology
, 8
, Article 463. 10.3389/fphys.2017.00463.
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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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Heywood, W;
Preece, RL;
Pryce, J;
Clayton, R;
Hallqvist, J;
Virasami, A;
Mills, K;
(2017)
Proteomic profiling reveals sub proteomes of the human placenta.
Placenta
, 59
pp. 69-72.
10.1016/j.placenta.2017.09.014.
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Hibar, DP;
Adams, HH;
Jahanshad, N;
Chauhan, G;
Stein, JL;
Hofer, E;
Renteria, ME;
... Ikram, MA; + view all
(2017)
Novel genetic loci associated with hippocampal volume.
Nature Communications
, 8
, Article 13624. 10.1038/ncomms13624.
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Hikmat, O;
Charalampos, T;
Klingenberg, C;
Rasmussen, M;
Tallaksen, CME;
Brodtkorb, E;
Fiskerstrand, T;
... Bindoff, LA; + view all
(2017)
The presence of anaemia negatively influences survival in patients with POLG disease.
Journal of Inherited Metabolic Disease
, 40
(6)
pp. 861-866.
10.1007/s10545-017-0084-9.
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Hikmat, O;
Tzoulis, C;
Chong, WK;
Chentouf, L;
Klingenberg, C;
Fratter, C;
Carr, LJ;
... Rahman, S; + view all
(2017)
The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.
Genetics in Medicine
, 19
(11)
pp. 1217-1225.
10.1038/gim.2017.35.
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Hill, M;
Oteng-Ntim, E;
Forya, F;
Petrou, M;
Morris, S;
Chitty, LS;
(2017)
Preferences for prenatal diagnosis of sickle-cell disorder: A discrete choice experiment comparing potential service users and health-care providers.
Health Expectations
, 20
(6)
pp. 1289-1295.
10.1111/hex.12568.
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Illingworth, CJR;
Roy, S;
Beale, MA;
Tutill, H;
Williams, R;
Breuer, J;
(2017)
On the effective depth of viral sequence data.
Virus Evolution
, 3
(2)
, Article vex030. 10.1093/ve/vex030.
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Improda, N;
Ponmani, C;
Schoenmakers, N;
Senniappan, S;
Atterbury, A;
Barnicoat, A;
Chatterjee, K;
(2017)
Intrafamilial Phenotypic Variability and Consequences of Non-Compliance with Treatment in Congenital Adrenal Hyperplasia and Congenital Hypothyroidism within a Single Family.
Hormone Research in Paediatrics
, 88
(2)
pp. 172-178.
10.1159/000465521.
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Jansen, IE;
Ye, H;
Heetveld, S;
Lechler, MC;
Michels, H;
Seinstra, RI;
Lubbe, SJ;
... Heutink, P; + view all
(2017)
Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.
Genome Biology
, 18
, Article 22. 10.1186/s13059-017-1147-9.
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Kammermeier, J;
Dziubak, R;
Pescarin, M;
Drury, S;
Godwin, H;
Reeve, K;
Chadokufa, S;
... Shah, N; + view all
(2017)
Phenotypic and genotypic characterisation of inflammatory bowel disease presenting before the age of 2 years.
Journal of Crohn's and Colitis
, 11
(1)
pp. 60-69.
10.1093/ecco-jcc/jjw118.
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Karaa, A;
Rahman, S;
Lombes, A;
Yu-Wai-Man, P;
Sheikh, MK;
Alai-Hansen, S;
Cohen, BH;
... Goldstein, A; + view all
(2017)
Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project.
Journal of Inherited Metabolic Disease
, 40
(3)
pp. 403-414.
10.1007/s10545-017-0035-5.
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Karda, R;
Perocheau, DP;
Suff, N;
Ng, J;
Delhove, JMKM;
Buckley, SMK;
Richards, S;
... Waddington, SN; + view all
(2017)
Continual conscious bioluminescent imaging in freely moving somatotransgenic mice.
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The Calcineurin-FoxO-MuRF1 signaling pathway regulates myofibril integrity in cardiomyocytes.
eLife
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(2017)
Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia.
American Journal of Respiratory and Critical Care Medicine
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10.1164/rccm.201607-1351OC.
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Soreq, L;
UK Brain Expression Consortium, .;
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Hardy, J;
Trabzuni, D;
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(2017)
Major Shifts in Glial Regional Identity Are a Transcriptional Hallmark of Human Brain Aging.
Cell Reports
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Sweeney, NP;
Meng, J;
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McClure, M;
(2017)
Delivery of large transgene cassettes by foamy virus vector.
Scientific Reports
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Tagalakis, AD;
Maeshima, R;
Yu-Wai-Man, C;
Meng, J;
Syed, F;
Wu, LP;
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(2017)
Peptide and nucleic acid-directed self-assembly of cationic nanovehicles through giant unilamellar vesicle modification: targetable nanocomplexes for in vivo nucleic acid delivery.
Acta Biomaterialia
10.1016/j.actbio.2017.01.048.
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Thompson, CL;
Plant, JC;
Wann, AK;
Bishop, CL;
Novak, P;
Mitchison, HM;
Beales, PL;
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(2017)
Chondrocyte expansion is associated with loss of primary cilia and disrupted hedgehog signalling.
European Cells and Materials
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10.22203/eCM.v034a09.
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Titre-Johnson, S;
Schoeler, N;
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McCullagh, H;
Freemantle, N;
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(2017)
Ketogenic diet in the treatment of epilepsy in children under the age of 2 years: study protocol for a randomised controlled trial.
Trials
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Tomaz, RA;
Harman, JL;
Karimlou, D;
Weavers, L;
Fritsch, L;
Bou-Kheir, T;
Bell, E;
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(2017)
Jmjd2c facilitates the assembly of essential enhancer-protein complexes at the onset of embryonic stem cell differentiation.
Development
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10.1242/dev.142489.
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Tuschl, K;
Gregory, A;
Meyer, E;
Clayton, PT;
Hayflick, SJ;
Mills, PB;
Kurian, MA;
(2017)
SLC39A14 Deficiency.
GeneReviews
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Viner, RM;
White, B;
Amin, R;
Peters, C;
Khanolkar, A;
Christie, D;
Hindmarsh, PC;
(2017)
Impact of deprivation, ethnicity, and insulin pump therapy on developmental trajectories of diabetes control in COB type 1 diabetes.
Pediatric Diabetes
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10.1111/pedi.12407.
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Vink, CA;
Counsell, JR;
Perocheau, DP;
Karda, R;
Buckley, SMK;
Brugman, MH;
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(2017)
Eliminating HIV-1 Packaging Sequences from Lentiviral Vector Proviruses Enhances Safety and Expedites Gene Transfer for Gene Therapy.
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10.1016/j.ymthe.2017.04.028.
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Hoffmann, GF;
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Garcia-Cazorla, A;
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(2017)
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.
Orphanet Journal of Rare Diseases
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Williams, DM;
Buxton, JL;
Kantomaa, MT;
Tammelin, TH;
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Järvelin, M-R;
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Associations of Leukocyte Telomere Length With Aerobic and Muscular Fitness in Young Adults.
American Journal of Epidemiology
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(2017)
An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy.
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Witoelar, A;
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Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases.
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Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.
Journal of Inherited Metabolic Disease
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10.1007/s10545-017-0015-9.
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Yokoyama, JS;
Karch, CM;
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Kouri, N;
Ross, OA;
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(2017)
Shared genetic risk between corticobasal degeneration, progressive supranuclear palsy, and frontotemporal dementia.
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10.1007/s00401-017-1693-y.
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Yu Wai Man, C;
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Meng, JH;
Bouremel, Y;
Lee, RM;
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Hart, SL;
(2017)
Genotype-Phenotype Associations of IL6 and PRG4 With Conjunctival Fibrosis After Glaucoma Surgery.
JAMA Ophthalmology
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10.1001/jamaophthalmol.2017.3407.
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Yu-Wai-Man, C;
Owen, N;
Lees, J;
Tagalakis, AD;
Hart, SL;
Webster, AR;
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Genome-wide RNA-Sequencing analysis identifies a distinct fibrosis gene signature in the conjunctiva after glaucoma surgery.
Scientific Reports
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Proceedings paper
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Daudvohra, F;
Fassad, MR;
Dixon, M;
Burgoyne, T;
Rogers, AV;
Loebinger, MR;
Hogg, C;
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(2017)
Genetic and structural characterisation of outer dynein arm variants causing primary ciliary dyskinesia.
In:
(Proceedings) Winter Meeting of the British-Thoracic-Society.
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BMJ PUBLISHING GROUP
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Conference item
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Al-Olabi, L;
Polubothu, S;
Dowsett, K;
Andrews, KA;
Stadnik, P;
Joseph, AP;
Knox, R;
... Kinsler, VA; + view all
(2017)
C2.2 Postzygotic activating variants in mapk pathway genes cause intracranial and extracranial vascular malformations that respond to targeted inhibition.
Presented at: Great Ormond Street Hospital Conference, London, UK.
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Thesis
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Bamber, Andrew Richard;
(2017)
A proteomic approach to determining cause of death in sudden unexpected death in infancy (SUDI).
Doctoral thesis (M.D(Res)), UCL (University College London).
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Baruteau, JC;
(2017)
A gene therapy approach for Argininosuccinic aciduria.
Doctoral thesis , UCL (University College London).
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Burke, Derek Gerard;
(2017)
Interplay between Glucocerebrosidase 1 and Glucocerebrosidase 2; potential implications for the pathogenesis of Gaucher and Parkinson's diseases.
Doctoral thesis , UCL (University College London).
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Gregory, LC;
(2017)
Investigation of new candidate genes in a cohort of patients with familial congenital hypopituitarism and associated disorders.
Doctoral thesis , UCL (University College London).
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Tuschl, K;
(2017)
Zebrafish disease models to study the pathogenesis of inherited manganese transporter defects and provide a route for drug discovery.
Doctoral thesis , UCL (University College London).
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