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Number of items: 36.
Article
Brouwer, MS;
Roberts, AP;
Hussain, H;
Williams, RJ;
Allan, E;
Mullany, P;
(2013)
Horizontal gene transfer converts non-toxigenic Clostridium difficile strains into toxin producers.
Nat Commun
, 4
, Article 2601. 10.1038/ncomms3601.
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Callaway, JL;
Shaffer, LG;
Chitty, L;
Rosenfeld, JA;
Crolla, JA;
(2013)
The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature.
Prenat Diagn
, 33
(12)
pp. 1119-1123.
10.1002/pd.4209.
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Chitty, LS;
Khalil, A;
Barrett, AN;
Pajkrt, E;
Griffin, DR;
Cole, TJ;
(2013)
Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA.
Prenat Diagn
, 33
(5)
416 - 423.
10.1002/pd.4066.
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Ferdinandusse, S;
Waterham, HR;
Heales, SJ;
Brown, GK;
Hargreaves, IP;
Taanman, JW;
Gunny, R;
... Rahman, S; + view all
(2013)
HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.
Orphanet J Rare Dis
, 8
(1)
, Article 188. 10.1186/1750-1172-8-188.
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Foley, AR;
Menezes, MP;
Pandraud, A;
Gonzalez, MA;
Al-Odaib, A;
Abrams, AJ;
Sugano, K;
... Houlden, H; + view all
(2013)
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.
Brain
, 137
(1)
, Article awt315. 10.1093/brain/awt315.
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Forabosco, P;
Ramasamy, A;
Trabzuni, D;
Walker, R;
Smith, C;
Bras, J;
Levine, AP;
... Ryten, M; + view all
(2013)
Insights into TREM2 biology by network analysis of human brain gene expression data.
Neurobiol Aging
, 34
(12)
pp. 2699-2714.
10.1016/j.neurobiolaging.2013.05.001.
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Gnanapavan, S;
Ho, P;
Heywood, W;
Jackson, S;
Grant, D;
Rantell, K;
Keir, G;
... Giovannoni, G; + view all
(2013)
Progression in multiple sclerosis is associated with low endogenous NCAM.
J Neurochem
, 125
(5)
766 - 773.
10.1111/jnc.12236.
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Griffiths, WJ;
Crick, PJ;
Wang, Y;
Ogundare, M;
Tuschl, K;
Morris, AA;
Bigger, BW;
... Wang, Y; + view all
(2013)
Analytical strategies for characterization of oxysterol lipidomes: Liver X receptor ligands in plasma.
Free Radical Biology and Medicine
, 59
69 - 84.
10.1016/j.freeradbiomed.2012.07.027.
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Halbritter, J;
Bizet, AA;
Schmidts, M;
Porath, JD;
Braun, DA;
Gee, HY;
McInerney-Leo, AM;
... Hildebrandt, F; + view all
(2013)
Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans.
Am J Hum Genet
, 93
(5)
pp. 915-925.
10.1016/j.ajhg.2013.09.012.
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Hernandez-Hernandez, V;
Pravincumar, P;
Diaz-Font, A;
May-Simera, H;
Jenkins, D;
Knight, M;
Beales, PL;
(2013)
Bardet-Biedl syndrome proteins control cilia length through regulation of actin polymerisation.
Human Molecular Genetics
, 22
(19)
pp. 3858-3868.
10.1093/hmg/ddt241.
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Karampetsou, E;
Morrogh, D;
Ballard, T;
Waters, JJ;
Lench, N;
Chitty, LS;
(2013)
Confined placental mosaicism: implications for fetal chromosomal analysis using microarray comparative genomic hybridization.
Prenatal Diagnosis
, 34
(1)
pp. 98-101.
10.1002/pd.4255.
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Kasperaviciute, D;
Catarino, CB;
Matarin, M;
Leu, C;
Novy, J;
Tostevin, A;
Leal, B;
... Sisodiya, SM; + view all
(2013)
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.
Brain: A Journal of Neurology
, 136
(10)
pp. 3140-3150.
10.1093/brain/awt233.
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Kenny, GD;
Bienemann, AS;
Tagalakis, AD;
Pugh, JA;
Welser, K;
Campbell, F;
Tabor, AB;
... Hart, SL; + view all
(2013)
Multifunctional receptor-targeted nanocomplexes for the delivery of therapeutic nucleic acids to the brain.
Biomaterials
, 34
(36)
pp. 9190-9200.
10.1016/j.biomaterials.2013.07.081.
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Kinsler, VA;
Thomas, AC;
Ishida, M;
Bulstrode, NW;
Loughlin, S;
Hing, S;
Chalker, J;
... Moore, GE; + view all
(2013)
Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS.
Journal of Investigative Dermatology
, 133
(9)
pp. 2229-2236.
10.1038/jid.2013.70.
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Klebe, S;
Golmard, JL;
Nalls, MA;
Saad, M;
Singleton, AB;
Bras, JM;
Hardy, J;
... Wood, NW; + view all
(2013)
The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism.
Journal of Neurology, Neurosurgery and Psychiatry
, 84
(6)
666 - 673.
10.1136/jnnp-2012-304475.
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McInerney-Leo, AM;
Schmidts, M;
Cortés, CR;
Leo, PJ;
Gener, B;
Courtney, AD;
Gardiner, B;
... Wicking, C; + view all
(2013)
Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60.
Am J Hum Genet
, 93
(3)
pp. 515-523.
10.1016/j.ajhg.2013.06.022.
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Meng, QH;
Irvine, S;
Tagalakis, AD;
McAnulty, RJ;
McEwan, JR;
Hart, SL;
(2013)
Inhibition of neointimal hyperplasia in a rabbit vein graft model following non-viral transfection with human iNOS cDNA.
Gene Therapy
, 20
(10)
979 -986.
10.1038/gt.2013.20.
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Mitrpant, C;
Porensky, P;
Zhou, H;
Price, L;
Muntoni, F;
Fletcher, S;
Wilton, SD;
(2013)
Improved Antisense Oligonucleotide Design to Suppress Aberrant SMN2 Gene Transcript Processing: Towards a Treatment for Spinal Muscular Atrophy.
PLoS One
, 8
(4)
, Article e62114. 10.1371/journal.pone.0062114.
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Onoufriadis, A;
Shoemark, A;
Munye, MM;
James, CT;
Schmidts, M;
Patel, M;
Rosser, EM;
... Mitchison, HM; + view all
(2013)
Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.
Journal of Medical Genetics
10.1136/jmedgenet-2013-101938.
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Oxenford, K;
Hill, M;
Chitty, L;
Silcock, C;
(2013)
Routine testing of fetal Rhesus D status in Rhesus D negative women using cell-free fetal DNA: An investigation into the preferences and information needs of women.
Prenatal Diagnosis
, 33
(7)
688 - 694.
10.1002/pd.4135.
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Pearce, LR;
Atanassova, N;
Banton, MC;
Bottomley, B;
van der Klaauw, AA;
Revelli, JP;
Hendricks, A;
... Farooqi, IS; + view all
(2013)
KSR2 mutations are associated with obesity, insulin resistance, and impaired cellular fuel oxidation.
Cell
, 155
(4)
pp. 765-777.
10.1016/j.cell.2013.09.058.
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Rahman, S;
Footitt, EJ;
Varadkar, S;
Clayton, PT;
(2013)
Inborn errors of metabolism causing epilepsy.
Dev Med Child Neurol
, 55
(1)
23 - 36.
10.1111/j.1469-8749.2012.04406.x.
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Ramasamy, A;
Trabzuni, D;
Gibbs, JR;
Dillman, A;
Hernandez, DG;
Arepalli, S;
Walker, R;
... Weale, ME; + view all
(2013)
Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies.
Nucleic Acids Research
, 41
(7)
, Article e88. 10.1093/nar/gkt069.
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Rymen, D;
Peanne, R;
Millón, MB;
Race, V;
Sturiale, L;
Garozzo, D;
Mills, P;
... Matthijs, G; + view all
(2013)
MAN1B1 Deficiency: An Unexpected CDG-II.
PLoS Genetics
, 9
(12)
, Article e1003989. 10.1371/journal.pgen.1003989.
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Schmidts, M;
Vodopiutz, J;
Christou-Savina, S;
Cortés, CR;
McInerney-Leo, AM;
Emes, RD;
Arts, HH;
... Mitchison, HM; + view all
(2013)
Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy.
The American Journal of Human Genetics
, 93
(5)
932 - 944.
10.1016/j.ajhg.2013.10.003.
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Shahni, R;
Wedatilake, Y;
Cleary, MA;
Lindley, KJ;
Sibson, KR;
Rahman, S;
(2013)
A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations.
American Journal of Medical Genetics Part A
, 161
(9)
pp. 2334-2338.
10.1002/ajmg.a.36065.
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Trabzuni, D;
Ramasamy, A;
Imran, S;
Walker, R;
Smith, C;
Weale, ME;
Hardy, J;
... North American Brain Expression Consortium; + view all
(2013)
Widespread sex differences in gene expression and splicing in the adult human brain.
Nat Commun
, 4
, Article 2771. 10.1038/ncomms3771.
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Trabzuni, D;
Ryten, M;
Emmett, W;
Ramasamy, A;
Lackner, KJ;
Zeller, T;
Walker, R;
... Plagnol, V; + view all
(2013)
Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 Locus.
PLOS ONE
, 8
(8)
, Article e70724. 10.1371/journal.pone.0070724.
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Tucci, A;
Liu, YT;
Preza, E;
Pitceathly, RD;
Chalasani, A;
Plagnol, V;
Land, JM;
... Houlden, H; + view all
(2013)
Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy.
Journal of Neurology, Neurosurgery & Psychiatry
10.1136/jnnp-2013-306387.
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Webb, EA;
O'Reilly, MA;
Clayden, JD;
Seunarine, KK;
Dale, N;
Salt, A;
Clark, CA;
(2013)
Reduced ventral cingulum integrity and increased behavioral problems in children with isolated optic nerve hypoplasia and mild to moderate or no visual impairment.
PLoS One
, 8
(3)
, Article e59048. 10.1371/journal.pone.0059048.
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Wedatilake, Y;
Brown, R;
McFarland, R;
Yaplito-Lee, J;
Morris, AA;
Champion, M;
Jardine, PE;
... Rahman, S; + view all
(2013)
SURF1 deficiency: a multi-centre natural history study.
Orphanet Journal of Rare Diseases
, 8
(1)
, Article 96. 10.1186/1750-1172-8-96.
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Williams, CE;
Nakhal, RS;
Achermann, JC;
Creighton, SM;
(2013)
Persistent unexplained congenital clitoromegaly in females born extremely prematurely.
Journal of Pediatric Urology
, 9
(6/A)
pp. 962-965.
10.1016/j.jpurol.2013.03.001.
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Wu, JY;
McGown, IN;
Lin, L;
Achermann, JC;
Harris, M;
Cowley, DM;
Aftimos, S;
... Cotterill, AM; + view all
(2013)
A novel NR5A1 variant in an infant with elevated testosterone from an Australasian cohort of 46,XY patients with disorders of sex development.
Clinical Endocrinology
, 78
(4)
545 - 550.
10.1111/cen.12012.
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Zhou, H;
Rokach, O;
Feng, L;
Munteanu, I;
Mamchaoui, K;
Wilmshurst, JM;
Sewry, C;
... Muntoni, F; + view all
(2013)
RyR1 Deficiency in Congenital Myopathies Disrupts Excitation-Contraction Coupling.
Human Mutation
, 34
(7)
pp. 986-996.
10.1002/humu.22326.
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Thesis
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Cheung, L;
(2013)
Genetic Manipulation of the Wnt and Notch Signalling Pathways in the Pituitary Gland in Vivo.
Doctoral thesis , UCL (University College London).
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Rahman, SA;
(2013)
Investigating the role of gut hormones in energy and glucose homeostasis.
Doctoral thesis (PhD), UCL (University College London).
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