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Number of items: 54.
Article
Achermann, JC;
Domenice, S;
Bachega, TASS;
Nishi, MY;
Mendonca, BB;
(2015)
Disorders of sex development: effect of molecular diagnostics.
Nature Reviews Endocrinology
, 11
(8)
pp. 478-488.
10.1038/nrendo.2015.69.
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Barber, JL;
Sebire, NJ;
Chitty, LS;
Taylor, AM;
Arthurs, OJ;
(2015)
Lung aeration on post-mortem magnetic resonance imaging is a useful marker of live birth versus stillbirth.
Int J Legal Med
, 129
(3)
531 - 536.
10.1007/s00414-014-1125-7.
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Bond, ME;
Brown, R;
Rallis, C;
Bahler, J;
Mole, SE;
(2015)
A central role for TOR signalling in a yeast model for juvenile CLN3 disease.
Microbial Cell
, 2
(12)
pp. 466-480.
10.15698/mic2015.12.241.
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Broomfield, A;
Sweeney, MG;
Woodward, CE;
Fratter, C;
Morris, AM;
Leonard, JV;
Abulhoul, L;
... Rahman, S; + view all
(2015)
Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease.
Journal of Inherited Metabolic Disease
, 38
(3)
pp. 445-457.
10.1007/s10545-014-9778-4.
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Brown, AC;
Bryant, JM;
Einer-Jensen, K;
Holdstock, J;
Houniet, DT;
Chan, JZ;
Depledge, DP;
... Breuer, J; + view all
(2015)
Rapid Whole-Genome Sequencing of Mycobacterium tuberculosis Isolates Directly from Clinical Samples.
Journal of Clinical Microbiology
, 53
(7)
pp. 2230-2237.
10.1128/JCM.00486-15.
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Buckley, SM;
Delhove, JM;
Perocheau, DP;
Karda, R;
Rahim, AA;
Howe, SJ;
Ward, NJ;
... McKay, TR; + view all
(2015)
In vivo bioimaging with tissue-specific transcription factor activated luciferase reporters.
Scientific Reports
, 5
, Article 11842. 10.1038/srep11842.
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Charlesworth, G;
Angelova, PR;
Bartolomé-Robledo, F;
Ryten, M;
Trabzuni, D;
Stamelou, M;
Abramov, AY;
... Wood, NW; + view all
(2015)
Mutations in HPCA cause autosomal-recessive primary isolated dystonia.
American Journal of Human Genetics
, 96
(4)
pp. 657-665.
10.1016/j.ajhg.2015.02.007.
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Choi, L;
Vernon, J;
Kopach, O;
Minett, MS;
Mills, K;
Clayton, PT;
Meert, T;
(2015)
The Fabry disease-associated lipid Lyso-Gb3 enhances voltage-gated calcium currents in sensory neurons and causes pain.
Neurosci Lett
, 594
163 - 168.
10.1016/j.neulet.2015.01.084.
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Clark, O;
Park, I;
Di Florio, A;
Cichon, AC;
Rustin, S;
Jugov, R;
Maeshima, R;
(2015)
Oxovanadium-based inhibitors can drive redox-sensitive cytotoxicity in neuroblastoma cells and synergise strongly with buthionine sulfoximine.
Cancer Lett
, 357
(1)
316 - 327.
10.1016/j.canlet.2014.11.039.
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Cole, TJ;
Ahmed, ML;
Preece, MA;
Hindmarsh, P;
Dunger, DB;
(2015)
The relationship between Insulin-like Growth Factor 1, sex steroids and timing of the pubertal growth spurt.
Clinical Endocrinology
, 82
(6)
pp. 862-869.
10.1111/cen.12682.
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Copp, AJ;
Adzick, NS;
Chitty, LS;
Fletcher, JM;
Holmbeck, GN;
Shaw, GM;
(2015)
Spina bifida.
Nature Reviews Disease Primers
, 1
, Article 15007. 10.1038/nrdp.2015.7.
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Estapé, A;
Josifova, D;
Rampling, D;
Glover, M;
Kinsler, VA;
(2015)
Congenital hemidysplasia with ichthyosiform naevus and limb defects (CHILD) syndrome without hemidysplasia.
British Journal of Dermatololgy
, 173
(1)
pp. 304-307.
10.1111/bjd.13636.
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Everett, TR;
Chitty, LS;
(2015)
Cell-free fetal DNA: the new tool in fetal medicine.
Ultrasound Obstet Gynecol
, 45
(5)
499 - 507.
10.1002/uog.14746.
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Forsythe, E;
Sparks, K;
Hoskins, BE;
Bagkeris, E;
McGowan, BM;
Carroll, PV;
Huda, MS;
... Beales, PL; + view all
(2015)
Genetic predictors of cardiovascular morbidity in Bardet-Biedl syndrome.
Clin Genet
, 87
(4)
343 - 349.
10.1111/cge.12373.
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Fuggle, NR;
Bragoli, W;
Mahto, A;
Glover, M;
Martinez, AE;
Kinsler, VA;
(2015)
The adverse effect profile of oral azathioprine in pediatric atopic dermatitis, and recommendations for monitoring.
Journal of the American Academy of Dermatology
, 72
(1)
pp. 108-114.
10.1016/j.jaad.2014.08.048.
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Gissen, P;
Arias, IM;
(2015)
Structural and functional hepatocyte polarity and liver disease.
Journal of Hepatology
, 63
(4)
pp. 1023-1037.
10.1016/j.jhep.2015.06.015.
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Heywood, WE;
Camuzeaux, S;
Doykov, I;
Patel, N;
Preece, RL;
Footitt, E;
Cleary, M;
... Mills, K; + view all
(2015)
Proteomic Discovery and Development of a Multiplexed Targeted MRM-LC-MS/MS Assay for Urine Biomarkers of Extracellular Matrix Disruption in Mucopolysaccharidoses I, II, and VI.
Analytical Chemistry
, 87
(24)
pp. 12238-12244.
10.1021/acs.analchem.5b03232.
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Heywood, WE;
Galimberti, D;
Bliss, E;
Sirka, E;
Paterson, RW;
Magdalinou, NK;
Carecchio, M;
... Mills, K; + view all
(2015)
Identification of novel CSF biomarkers for neurodegeneration and their validation by a high-throughput multiplexed targeted proteomic assay.
Molecular Neurodegeneration
, 10
, Article 64. 10.1186/s13024-015-0059-y.
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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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Huntington, SE;
(2015)
The risk of viral rebound in the year after delivery in women remaining on antiretroviral therapy.
AIDS
, 29
(17)
pp. 2269-2278.
10.1097/QAD.0000000000000826.
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Ivins, S;
Chappell, J;
Vernay, B;
Suntharalingham, J;
Martineau, A;
Mohun, TJ;
Scambler, PJ;
(2015)
The CXCL12/CXCR4 Axis Plays a Critical Role in Coronary Artery Development.
Developmental Cell
, 33
(4)
pp. 455-468.
10.1016/j.devcel.2015.03.026.
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Kinsler, VA;
Drury, S;
Khan, A;
Waelchli, R;
Rukaite, G;
Barnicoat, A;
Lench, N;
... O'Shaughnessy, RF; + view all
(2015)
A novel microdeletion in LOR causing autosomal dominant loricrin keratoderma.
Br J Dermatol
, 172
(1)
262 - 264.
10.1111/bjd.13361.
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Kohan, R;
Mole, SE;
Cotman, SL;
(2015)
Special issue: Molecular basis of NCL.
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
, 1852
(10 Pt B)
pp. 2235-2236.
10.1016/j.bbadis.2015.06.023.
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Mazarello Paes, V;
Charalampopoulos, D;
Khanolkar, AR;
Taylor-Robinson, D;
Viner, R;
Edge, J;
Stephenson, T;
(2015)
Protocol for systematic review of evidence on the determinants and influence of early glycaemic control in childhood-onset type 1 diabetes.
Systematic Reviews
, 4
(1)
, Article 159. 10.1186/s13643-015-0146-8.
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McCabe, MJ;
Hu, Y;
Gregory, LC;
Gaston-Massuet, C;
Alatzoglou, KS;
Saldanha, JW;
Gualtieri, A;
... Dattani, MT; + view all
(2015)
Novel application of luciferase assay for the in vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD).
Molecular and Cellular Endocrinology
, 417
pp. 63-72.
10.1016/j.mce.2015.09.010.
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Mencacci, NE;
Erro, R;
Wiethoff, S;
Hersheson, J;
Ryten, M;
Balint, B;
Ganos, C;
... Bhatia, KP; + view all
(2015)
ADCY5 mutations are another cause of benign hereditary chorea.
Neurology
, 85
(1)
pp. 80-88.
10.1212/WNL.0000000000001720.
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Mencacci, NE;
Rubio-Agusti, I;
Zdebik, A;
Asmus, F;
Ludtmann, MH;
Ryten, M;
Plagnol, V;
... Wood, NW; + view all
(2015)
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.
Am J Hum Genet
, 96
(6)
pp. 938-947.
10.1016/j.ajhg.2015.04.008.
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Moazen, M;
Peskett, E;
Babbs, C;
Pauws, E;
Fagan, MJ;
(2015)
Mechanical properties of calvarial bones in a mouse model for craniosynostosis.
PLoS One
, 10
(5)
, Article e0125757. 10.1371/journal.pone.0125757.
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Moore, GE;
Ishida, M;
Demetriou, C;
Al-Olabi, L;
Leon, LJ;
Thomas, AC;
Abu-Amero, S;
... Stanier, P; + view all
(2015)
The role and interaction of imprinted genes in human fetal growth.
Philos Trans R Soc Lond B Biol Sci
, 370
(1663)
, Article 20140074 . 10.1098/rstb.2014.0074.
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Munye, MM;
Ravi, J;
Tagalakis, AD;
McCarthy, D;
Ryadnov, MG;
Hart, SL;
(2015)
Role of liposome and peptide in the synergistic enhancement of transfection with a lipopolyplex vector.
Sci Rep
, 5
, Article 9292. 10.1038/srep09292.
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Nivsarkar, MS;
Buckley, SM;
Parker, AL;
Perocheau, D;
McKay, TR;
Rahim, AA;
Howe, SJ;
(2015)
Evidence for Contribution of CD4+CD25+ Regulatory T Cells in Maintaining Immune Tolerance to Human Factor IX following Perinatal Adenovirus Vector Delivery.
Journal of Immunology Research
, 2015
, Article 397879. 10.1155/2015/397879.
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O'Sullivan, M;
Rutland, P;
Lucas, D;
Ashton, E;
Hendricks, S;
Rahman, S;
Bitner-Glindzicz, M;
(2015)
Mitochondrial m.1584A 12S m62A rRNA methylation in families with m.1555A>G associated hearing loss.
Human Molecular Genetics
, 24
(4)
pp. 1036-1044.
10.1093/hmg/ddu518.
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Pai, YJ;
Leung, KY;
Savery, D;
Hutchin, T;
Prunty, H;
Heales, S;
Brosnan, ME;
... Greene, ND; + view all
(2015)
Glycine decarboxylase deficiency causes neural tube defects and features of non-ketotic hyperglycinemia in mice.
Nat Commun
, 6
, Article 6388. 10.1038/ncomms7388.
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Patel, N;
Gold, MG;
(2015)
The genetically encoded tool set for investigating cAMP: more than the sum of its parts.
Frontiers in Pharmacology
, 6
, Article 164. 10.3389/fphar.2015.00164.
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Pawlikowski, JS;
Brock, C;
Chen, SC;
Al-Olabi, L;
Nixon, C;
McGregor, F;
Paine, S;
... Adams, PD; + view all
(2015)
Acute Inhibition of MEK Suppresses Congenital Melanocytic Nevus Syndrome in a Murine Model Driven by Activated NRAS and Wnt Signaling.
Journal of Investigative Dermatology
, 135
(8)
pp. 2093-2101.
10.1038/jid.2015.114.
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Perchard, R;
MacDonald, D;
Say, J;
Pitts, J;
Pye, S;
Allgrove, J;
Banerjee, K;
(2015)
Islet autoantibody status in a multi-ethnic UK clinic cohort of children presenting with diabetes.
Arch Dis Child
, 100
(4)
pp. 348-352.
10.1136/archdischild-2014-306542.
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Pitceathly, RD;
Morrow, JM;
Sinclair, CD;
Woodward, C;
Sweeney, MG;
Rahman, S;
Plant, GT;
... Thornton, JS; + view all
(2015)
Extra-ocular muscle MRI in genetically-defined mitochondrial disease.
European Radiology
, 26
pp. 130-137.
10.1007/s00330-015-3801-5.
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Raman, S;
Klein, N;
Kwan, A;
Hubank, M;
Rahman, S;
Rashid, A;
Peters, MJ;
(2015)
Oxidative phosphorylation gene expression falls at onset and throughout the development of meningococcal sepsis-induced multi-organ failure in children.
Intensive Care Med
, 41
(8)
pp. 1489-1490.
10.1007/s00134-015-3817-y.
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Rees, E;
Kirov, G;
Walters, JT;
Richards, AL;
Howrigan, D;
Kavanagh, DH;
Pocklington, AJ;
... O'Donovan, MC; + view all
(2015)
Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia.
Translational Psychiatry
, 5
, Article e607. 10.1038/tp.2015.99.
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Rudge, P;
Jaunmuktane, Z;
Adlard, P;
Bjurstrom, N;
Caine, D;
Lowe, J;
Norsworthy, P;
... Collinge, J; + view all
(2015)
Iatrogenic CJD due to pituitary-derived growth hormone with genetically determined incubation times of up to 40 years.
Brain
, 138
(Pt 11)
pp. 3386-3399.
10.1093/brain/awv235.
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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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Shaheen, R;
Schmidts, M;
Faqeih, E;
Hashem, A;
Lausch, E;
Holder, I;
Superti-Furga, A;
... Alkuraya, FS; + view all
(2015)
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.
Hum Mol Genet
, 24
(5)
1410 - 1419.
10.1093/hmg/ddu555.
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Shahni, R;
Cale, CM;
Anderson, G;
Osellame, LD;
Hambleton, S;
Jacques, S;
Wadatilake, Y;
... Rahman, S; + view all
(2015)
Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission.
Brain
, 138
(10)
pp. 2834-2846.
10.1093/brain/awv182.
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Stödberg, T;
McTague, A;
Ruiz, AJ;
Hirata, H;
Zhen, J;
Long, P;
Farabella, I;
... Kurian, MA; + view all
(2015)
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.
Nature Communications
, 6
p. 8038.
10.1038/ncomms9038.
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Suntharalingham, JP;
Buonocore, F;
Duncan, AJ;
Achermann, JC;
(2015)
DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease.
Best Practice & Research Clinical Endocrinology & Metabolism
, 29
(4)
pp. 607-619.
10.1016/j.beem.2015.07.004.
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Tagalakis, AD;
Castellaro, S;
Zhou, H;
Bienemann, A;
Munye, MM;
McCarthy, D;
White, EA;
(2015)
A method for concentrating lipid peptide DNA and siRNA nanocomplexes that retains their structure and transfection efficiency.
Int J Nanomedicine
, 10
2673 - 2683.
10.2147/IJN.S78935.
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Waelchi, R;
Williams, J;
Cole, T;
Dattani, M;
Hindmarsh, P;
Kennedy, H;
Martinez, A;
... Kinsler, V; + view all
(2015)
Growth and hormonal profiling in children with congenital melanocytic naevi.
British Journal of Dermatology
, 173
pp. 1471-1478.
10.1111/bjd.14091.
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Waelchli, R;
Aylett, SE;
Atherton, D;
Thompson, DJ;
Chong, WK;
Kinsler, VA;
(2015)
Classification of neurological abnormalities in children with congenital melanocytic naevus syndrome identifies magnetic resonance imaging as the best predictor of clinical outcome.
British Journal of Dermatology
, 173
(3)
pp. 739-750.
10.1111/bjd.13898.
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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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Waters, AM;
Asfahani, R;
Carroll, P;
Bicknell, L;
Lescai, F;
Bright, A;
Chanudet, E;
... Beales, PL; + view all
(2015)
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.
Journal of Medical Genetics
, 52
(3)
pp. 147-156.
10.1136/jmedgenet-2014-102691.
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Wavre-Shapton, ST;
Calvi, AA;
Turmaine, M;
Seabra, MC;
Cutler, DF;
Futter, CE;
Mitchison, HM;
(2015)
Photoreceptor phagosome processing defects and disturbed autophagy in retinal pigment epithelium of Cln3Δex1-6 mice modelling juvenile neuronal ceroid lipofuscinosis (Batten disease).
Human Molecular Genetics
, 24
(24)
pp. 7060-7074.
10.1093/hmg/ddv406.
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Wedatilake, Y;
Plagnol, V;
Anderson, G;
Paine, SM;
Clayton, PT;
Jacques, TS;
Rahman, S;
(2015)
Tubular aggregates caused by serine active site containing 1 (SERAC1) mutations in a patient with a mitochondrial encephalopathy.
Neuropathol Appl Neurobiol
, 41
(3)
399 - 402.
10.1111/nan.12190.
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Thesis
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Marotta, D;
(2015)
Defining the role of the Golgi apparatus in juvenile NCL (Batten disease).
Doctoral thesis , UCL (University College London).
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Vieira, MCD;
(2015)
Towards therapy for Batten disease.
Doctoral thesis , UCL (University College London).
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