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Number of items: 143.
Article
Ali, SR;
Bryce, J;
Cools, M;
Korbonits, M;
Beun, JG;
Taruscio, D;
Danne, T;
... Ahmed, SF; + view all
(2019)
The current landscape of European registries for rare endocrine conditions.
European Journal of Endocrinology
, 180
(1)
pp. 89-98.
10.1530/EJE-18-0861.
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Alkhidir, AAI;
Holland, MJ;
Elhag, WI;
Williams, CA;
Breuer, J;
Elemam, AE;
El Hussain, KMK;
... Pickering, H; + view all
(2019)
Whole-genome sequencing of ocular Chlamydia trachomatis isolates from Gadarif State, Sudan.
Parasites and Vectors
, 12
, Article 518. 10.1186/s13071-019-3770-7.
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Anderson, R;
Rust, S;
Ashworth, J;
Clayton-Smith, J;
Taylor, RL;
Clayton, PT;
Morris, AAM;
(2019)
Lathosterolosis: A Relatively Mild Case with Cataracts and Learning Difficulties.
JIMD Reports
, 44
pp. 79-84.
10.1007/8904_2018_127.
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Bacila, I;
Adaway, J;
Hawley, J;
Mahdi, S;
Krone, R;
Patel, L;
Alvi, S;
... Krone, N; + view all
(2019)
Measurement of Salivary Adrenal-Specific Androgens as Biomarkers of Therapy Control in 21-Hydroxylase Deficiency.
The Journal of Clinical Endocrinology & Metabolism
, 104
(12)
pp. 6417-6429.
10.1210/jc.2019-00031.
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Balasubramaniam, S;
Christodoulou, J;
Rahman, S;
(2019)
Disorders of Riboflavin Metabolism.
Journal of Inherited Metabolic Disease
, 42
(4)
pp. 608-619.
10.1002/jimd.12058.
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Bandres-Ciga, S;
Ahmed, S;
Sabir, MS;
Blauwendraat, C;
Adarmes-Gomez, AD;
Bernal-Bernal, I;
Bonilla-Toribio, M;
... Singleton, A; + view all
(2019)
The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight.
Movement Disorders
10.1002/mds.27864.
(In press).
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Bandres-Ciga, S;
Saez-Atienzar, S;
Bonet-Ponce, L;
Billingsley, K;
Vitale, D;
Blauwendraat, C;
Gibbs, JR;
... Singleton, AB; + view all
(2019)
The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson's disease.
Movement Disorders
, 34
(4)
pp. 460-468.
10.1002/mds.27614.
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Barrell, WB;
Griffin, JN;
Harvey, J-L;
Danovi, D;
Beales, P;
Grigoriadis, AE;
Liu, KJ;
(2019)
Induction of Neural Crest Stem Cells From Bardet-Biedl Syndrome Patient Derived hiPSCs.
Frontiers In Molecular Neuroscience
, 12
, Article 139. 10.3389/fnmol.2019.00139.
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Baruteau, J;
Diez-Fernandez, C;
Lerner, S;
Ranucci, G;
Gissen, P;
Dionisi-Vici, C;
Nagamani, S;
... Häberle, J; + view all
(2019)
Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects.
Journal of Inherited Metabolic Disease
, 42
(6)
pp. 1147-1161.
10.1002/jimd.12047.
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Baruteau, J;
Khalil, Y;
Grunewald, S;
Zancolli, M;
Chakrapani, A;
Cleary, M;
Davison, J;
... Mills, P; + view all
(2019)
Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic Adjustment.
Metabolites
, 9
(11)
, Article 275. 10.3390/metabo9110275.
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Baruteau, J;
Waddington, SN;
(2019)
Fetal gene therapy for neurodegenerative lysosomal storage diseases.
Journal of Inherited Metabolic Disease
, 42
(3)
pp. 391-393.
10.1002/jimd.12018.
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Baud, A;
Heywood, WE;
Little, D;
Gissen, P;
Mills, K;
(2019)
Preparation of iPSCs for Targeted Proteomic Analysis.
Cell-Based Assays Using iPSCs for Drug Development and Testing
, 1994
pp. 131-139.
10.1007/978-1-4939-9477-9_11.
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Baud, A;
Little, D;
Wen, TQ;
Heywood, WE;
Gissen, P;
Mills, K;
(2019)
An Optimized Method for the Proteomic Analysis of Low Volumes of Cell Culture Media and the Secretome: The Application and the Demonstration of Altered Protein Expression in iPSC-Derived Neuronal Cell Lines from Parkinson’s Disease Patients.
Journal of Proteome Research
, 18
(3)
pp. 1198-1207.
10.1021/acs.jproteome.8b00831.
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Bax, BE;
Levene, M;
Bain, MD;
Fairbanks, LD;
Filosto, M;
Kalkan Uçar, S;
Klopstock, T;
... Nirmalananthan, N; + view all
(2019)
Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial.
MDPI — JCM
, 8
(8)
, Article 1096. 10.3390/jcm8081096.
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Bayat, A;
Knaus, A;
Juul, AW;
Dukic, D;
Gardella, E;
Charzewska, A;
Clement, E;
... DDD Study Group, .; + view all
(2019)
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics.
Genetics in Medicine
, 21
pp. 2216-2223.
10.1038/s41436-019-0512-3.
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Berkovic, SF;
Oliver, KL;
Canafoglia, L;
Krieger, P;
Damiano, JA;
Hildebrand, MS;
Morbin, M;
... Carpenter, S; + view all
(2019)
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.
Brain
, 142
(1)
pp. 59-69.
10.1093/brain/awy297.
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Bevan, D;
White, A;
Marshall, J;
Peckham, C;
(2019)
Modelling the effect of the introduction of antenatal screening for group B Streptococcus (GBS) carriage in the UK.
BMJ Open
, 9
(3)
, Article e024324. 10.1136/bmjopen-2018-024324.
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Biebermann, H;
Kleinau, G;
Schnabel, D;
Bockenhauer, D;
Wilson, LC;
Tully, I;
Kiff, S;
... Grüters, A; + view all
(2019)
A new multi-system disorder caused by the Gαs mutation p.F376V.
The Journal of Clinical Endocrinology & Metabolism
, 104
(4)
pp. 1079-1089.
10.1210/jc.2018-01250.
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Billingsley, KJ;
Barbosa, IA;
Bandrés-Ciga, S;
Quinn, JP;
Bubb, VJ;
Deshpande, C;
Botia, JA;
... Koks, S; + view all
(2019)
Mitochondria function associated genes contribute to Parkinson's Disease risk and later age at onset.
npj Parkinson's Disease
, 5
, Article 8. 10.1038/s41531-019-0080-x.
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Bolduc, V;
Foley, AR;
Solomon-Degefa, H;
Sarathy, A;
Donkervoort, S;
Hu, Y;
Chen, GS;
... Bönnemann, CG; + view all
(2019)
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies.
JCI Insight
, 4
(6)
10.1172/jci.insight.124403.
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Bonham, LW;
Steele, NZR;
Karch, CM;
Broce, I;
Geier, EG;
Wen, NL;
Momeni, P;
... International FTD-Genomics Consortium (IFGC), .; + view all
(2019)
Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia.
Scientific Reports
, 9
, Article 10854. 10.1038/s41598-019-46415-1.
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Brial, F;
Le Lay, A;
Hedjazi, L;
Tsang, T;
Fearnside, JF;
Otto, GW;
Alzaid, F;
... Gauguier, D; + view all
(2019)
Systems Genetics of Hepatic Metabolome Reveals Octopamine as a Target for Non-Alcoholic Fatty Liver Disease Treatment.
Scientific Reports
, 9
, Article 3656. 10.1038/s41598-019-40153-0.
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Brown, JR;
Roy, S;
Shah, D;
Williams, CA;
Williams, R;
Dunn, H;
Hartley, J;
... Breuer, J; + view all
(2019)
Norovirus transmission dynamics in a paediatric hospital using full genome sequences.
Clinical Infectious Diseases
, 68
(2)
pp. 222-228.
10.1093/cid/ciy438.
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Brown, L-AK;
Ruis, C;
Clark, I;
Roy, S;
Brown, JR;
Albuquerque, AS;
Patel, SY;
... Lowe, DM; + view all
(2019)
A comprehensive characterization of chronic norovirus infection in immunodeficient hosts.
Journal of Allergy and Clinical Immunology
10.1016/j.jaci.2019.07.036.
(In press).
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Bugiardini, E;
Pope, S;
Feichtinger, RG;
Poole, OV;
Pittman, AM;
Woodward, CE;
Heales, S;
... Pitceathly, RDS; + view all
(2019)
Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases.
Journal Of Clinical Medicine
, 8
(7)
, Article 991. 10.3390/jcm8070991.
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Buonocore, F;
Clifford-Mobley, O;
King, TFJ;
Striglioni, N;
Man, E;
Suntharalingham, JP;
del Valle, I;
... Achermann, JC; + view all
(2019)
Next generation sequencing reveals novel genetic variants (SRY, DMRT1, NR5A1, DHH, DHX37) in adults with 46,XY DSD.
Journal of the Endocrine Society
10.1210/js.2019-00306.
(In press).
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Cerbone, M;
Clement, E;
McClatchey, M;
Dobbin, J;
Gilbert, C;
Keane, M;
Boukhibar, L;
... Shah, P; + view all
(2019)
Sotos Syndrome Presenting with Neonatal Hyperinsulinaemic Hypoglycaemia, Extensive Thrombosis, and Multisystem Involvement.
Hormone Research in Paediatrics
, 2019
(92)
pp. 64-70.
10.1159/000496545.
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Chandler, NJ;
Ahlfors, H;
Drury, S;
Mellis, R;
Hill, M;
McKay, FJ;
Collinson, C;
... Chitty, LS; + view all
(2019)
Noninvasive Prenatal Diagnosis for Cystic Fibrosis: Implementation, Uptake, Outcome, and Implications.
Clinical Chemistry
, 65
(11)
10.1373/clinchem.2019.305011.
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Chelban, V;
Wilson, MP;
Warman Chardon, J;
Vandrovcova, J;
Zanetti, MN;
Zamba-Papanicolaou, E;
Efthymiou, S;
... SYNaPS Study Group, .; + view all
(2019)
PDXK mutations cause polyneuropathy responsive to PLP supplementation.
Annals of Neurology
10.1002/ana.25524.
(In press).
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Chiesa, R;
Standing, JF;
Winter, R;
Nademi, Z;
Chu, J;
Pinner, D;
Kloprogge, F;
... Slatter, M; + view all
(2019)
Proposed therapeutic range of treosulfan in reduced toxicity pediatric allogeneic hematopoietic stem cell transplant conditioning: results from a prospective trial.
Clinical Pharmacology & Therapeutics
10.1002/cpt.1715.
(In press).
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Clayton, P;
(2019)
The effectiveness of correcting abnormal metabolic profiles.
Journal of Inherited Metabolic Disease
10.1002/jimd.12139.
(In press).
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Crow, Y;
Keshavan, N;
Barbet, JP;
Bercu, G;
Bondet, V;
Boussard, C;
Dedieu, N;
... Rahman, S; + view all
(2019)
Cardiac valve involvement in ADAR-related type I interferonopathy.
Journal of Medical Genetics
10.1136/jmedgenet-2019-106457.
(In press).
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Cudini, J;
Roy, S;
Houldcroft, CJ;
Bryant, JM;
Depledge, DP;
Tutill, H;
Veys, P;
... Breuer, J; + view all
(2019)
Human cytomegalovirus haplotype reconstruction reveals high diversity due to superinfection and evidence of within-host recombination.
Proceedings of the National Academy of Sciences of the United States of America
, 116
(12)
pp. 5693-5698.
10.1073/pnas.1818130116.
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Dastamani, A;
Güemes, M;
Pitfield, C;
Morgan, K;
Rajab, M;
Rottenburger, C;
Bomanji, J;
... Shah, P; + view all
(2019)
The Use of a Long-Acting Somatostatin Analogue (Lanreotide) in Three Children with Focal Forms of Congenital Hyperinsulinaemic Hypoglycaemia.
Hormone Research in Paediatrics
, 91
(1)
pp. 56-61.
10.1159/000491101.
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Dastamani, A;
Malhorta, N;
Güemes, M;
Morgan, K;
Rees, CM;
Dattani, M;
Shah, P;
(2019)
Post-Prandial Hyperinsulinaemic Hypoglycaemia after Oesophageal Surgery in Children.
Hormone Research in Paediatrics
, 91
(3)
pp. 216-220.
10.1159/000491647.
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Dattani, MT;
(2019)
Letrozole: a new treatment for delayed puberty in boys?
[Editorial comment].
The Lancet Child & Adolescent Health
, 3
(2)
pp. 60-62.
10.1016/S2352-4642(18)30405-X.
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Davison, J;
Lemonde, H;
Rahman, S;
(2019)
Inherited mitochondrial disease.
[Review].
Paediatrics and Child Health
, 29
(3)
pp. 116-122.
10.1016/j.paed.2019.01.009.
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Deans, ZC;
Allen, S;
Jenkins, L;
Khawaja, F;
Gutowska-Ding, W;
Patton, SJ;
Chitty, LS;
(2019)
Ensuring high standards for the delivery of NIPT world-wide: Development of an international external quality assessment scheme.
Prenatal Diagnosis
10.1002/pd.5438.
(In press).
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Doykov, ID;
Heywood, WE;
Nikolaenko, V;
Śpiewak, J;
Hällqvist, J;
Clayton, PT;
Mills, P;
... Mills, K; + view all
(2019)
Rapid, proteomic urine assay for monitoring progressive organ disease in Fabry disease.
Journal of Medical Genetics
10.1136/jmedgenet-2019-106030.
(In press).
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Dufek, S;
Cheshire, C;
Levine, AP;
Trompeter, RS;
Issler, N;
Stubbs, M;
Mozere, M;
... Bockenhauer, D; + view all
(2019)
Genetic identification of two novel loci associated with steroid-sensitive nephrotic syndrome.
Journal of the American Society of Nephrology
, 30
(8)
pp. 1375-1384.
10.1681/ASN.2018101054.
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Efthymiou, S;
Salpietro, V;
Malintan, N;
Poncelet, M;
Kriouile, Y;
Fortuna, S;
De Zorzi, R;
... Houlden, H; + view all
(2019)
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.
Brain
10.1093/brain/awz248.
(In press).
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Ferretti, L;
Mellis, R;
Chitty, LS;
(2019)
Update on the use of exome sequencing in the diagnosis of fetal abnormalities.
European Journal of Medical Genetics
, 62
(8)
, Article 103663. 10.1016/j.ejmg.2019.05.002.
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Forny, P;
Hochuli, M;
Rahman, Y;
Deheragoda, M;
Weber, A;
Baruteau, J;
Grunewald, S;
(2019)
Liver neoplasms in methylmalonic aciduria: An emerging complication.
Journal of Inherited Metabolic Disease
, 42
(5)
pp. 793-802.
10.1002/jimd.12143.
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Fu Md, S;
Thompson PhD, CL;
Ali, A;
Wang PhD, W;
Chapple PhD, P;
Mitchison Phd, HM;
Beales, PL;
... Knight PhD, MM; + view all
(2019)
Mechanical loading inhibits cartilage inflammatory signalling via an HDAC6 and IFT-dependent mechanism regulating primary cilia elongation.
Osteoarthritis Cartilage
10.1016/j.joca.2019.03.003.
(In press).
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Funkhouser, CH;
Kinsler, VA;
Frieden, IJ;
(2019)
Striking contiguous depigmentation across the lower limbs in piebaldism and its implications for understanding melanocytic migration and development.
Pediatric Dermatology
, 36
(4)
pp. 511-513.
10.1111/pde.13831.
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Gagunashvili, AN;
Ocaka, L;
Kelberman, D;
Munot, P;
Bacchelli, C;
Beales, PL;
Ganesan, V;
(2019)
Novel missense variants in the RNF213 gene from a European family with Moyamoya disease.
Human Genome Variation
, 6
, Article 35. 10.1038/s41439-019-0066-6.
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Gardner, E;
Bailey, M;
Schulz, A;
Aristorena, M;
Miller, N;
Mole, SE;
(2019)
Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease.
Human Mutation
, 40
(11)
pp. 1924-1938.
10.1002/humu.23860.
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Gault, EJ;
Cole, TJ;
Casey, S;
Hindmarsh, PC;
Betts, P;
Dunger, DB;
Donaldson, MDC;
(2019)
Effect of oxandrolone and timing of pubertal induction on final height in Turner syndrome: final analysis of the UK randomised placebo-controlled trial.
Archives of Disease in Childhood
10.1136/archdischild-2019-317695.
(In press).
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Gorman, KM;
Meyer, E;
Grozeva, D;
Spinelli, E;
McTague, A;
Sanchis-Juan, A;
Carss, KJ;
... Kurian, MA; + view all
(2019)
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
American Journal of Human Genetics
, 104
(5)
pp. 948-956.
10.1016/j.ajhg.2019.03.005.
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Gregory, LC;
Ferreira, CB;
Young-Baird, SK;
Williams, HJ;
Harakalova, M;
van Haaften, G;
Rahman, SA;
... Dattani, MT; + view all
(2019)
Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation.
EBioMedicine
10.1016/j.ebiom.2019.03.013.
(In press).
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Gregory, LC;
Shah, P;
Sanner, JRF;
Arancibia, M;
Hurst, J;
Jones, WD;
Spoudeas, H;
... Dattani, MT; + view all
(2019)
Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis.
The Journal of Clinical Endocrinology & Metabolism
, 104
(12)
pp. 5737-5750.
10.1210/jc.2019-00631.
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Guelfi, S;
Botia, JA;
Thom, M;
Ramasamy, A;
Perona, M;
Stanyer, L;
Martinian, L;
... Matarin, M; + view all
(2019)
Transcriptomic and genetic analyses reveal potential causal drivers for intractable partial epilepsy.
Brain
, 142
(6)
pp. 1616-1630.
10.1093/brain/awz074.
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Hampton-O'Neil, LA;
Severn, CE;
Cross, SJ;
Gurung, S;
Nobes, CD;
Toye, AM;
(2019)
Ephrin/Eph Receptor Interaction Facilitates Macrophage Recognition Of Differentiating Human Erythroblasts.
Haematologica
10.3324/haematol.2018.215160.
(In press).
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Haq, N;
Schmidt-Hieber, C;
Sialana, FJ;
Ciani, L;
Heller, JP;
Stewart, M;
Bentley, L;
... Christou-Savina, S; + view all
(2019)
Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons.
PLoS Biology
, 17
(9)
, Article e3000414. 10.1371/journal.pbio.3000414.
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Haworth, S;
Shapland, CY;
Hayward, C;
Prins, BP;
Felix, JF;
Medina-Gomez, C;
Rivadeneira, F;
... St Pourcain, B; + view all
(2019)
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume.
Nature Communications
, 10
, Article 357. 10.1038/s41467-018-07863-x.
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Heywood, W;
Doykov, I;
Spiewak, J;
Hallqvist, J;
Mills, K;
Nowak, A;
(2019)
Global glycosphingolipid analysis in urine and plasma of female Fabry disease patients.
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
, 1865
(10)
pp. 2726-2735.
10.1016/j.bbadis.2019.07.005.
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Hill, M;
Lewis, C;
Riddington, M;
Crowe, B;
DeVile, C;
David, AL;
Semler, O;
... Chitty, LS; + view all
(2019)
Stakeholder views and attitudes towards prenatal and postnatal transplantation of fetal mesenchymal stem cells to treat Osteogenesis Imperfecta.
European Journal of Human Genetics
10.1038/s41431-019-0387-4.
(In press).
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Hill, M;
Lewis, C;
Riddington, M;
Crowe, B;
DeVile, C;
Gotherstrom, C;
Chitty, L;
(2019)
Exploring the impact of Osteogenesis Imperfecta on families: A mixed-methods systematic review.
Disability and Health Journal
, 12
(3)
pp. 340-349.
10.1016/j.dhjo.2018.12.003.
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Holthaus, S-MK;
Herranz-Martin, S;
Massaro, G;
Aristorena, M;
Hoke, J;
Hughes, MP;
Maswood, R;
... Ali, RR; + view all
(2019)
Neonatal brain-directed gene therapy rescues a mouse model of neurodegenerative CLN6 Batten disease.
Human Molecular Genetics
, 28
(23)
pp. 3867-3879.
10.1093/hmg/ddz210.
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Hong, Y;
Nanthapisal, S;
Omoyinmi, E;
Olbrich, P;
Neth, O;
Speckmann, C;
Lucena, JM;
... Brogan, P; + view all
(2019)
Secondary C1q Deficiency in Activated PI3Kδ Syndrome Type 2.
Frontiers in Immunology
, 10
, Article 2589. 10.3389/fimmu.2019.02589.
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Horga, A;
Woodward, CE;
Mills, A;
Pareés, I;
Hargreaves, IP;
Brown, RM;
Bugiardini, E;
... Hanna, MG; + view all
(2019)
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair.
Human Genetics
10.1007/s00439-019-02075-9.
(In press).
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Hughes, CD;
Choi, ML;
Ryten, M;
Hopkins, L;
Drews, A;
Botía, JA;
Iljina, M;
... Klenerman, D; + view all
(2019)
Picomolar concentrations of oligomeric alpha-synuclein sensitizes TLR4 to play an initiating role in Parkinson's disease pathogenesis.
Acta Neuropathologica
, 137
(1)
pp. 103-120.
10.1007/s00401-018-1907-y.
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Hutchinson, C;
Shelmerdine, SC;
Lewis, C;
Parmenter, J;
Simcock, IC;
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Olbrich, H;
Loges, NT;
... Omran, H; + view all
(2019)
De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry.
American Journal of Human Genetics
, 105
(5)
pp. 1030-1039.
10.1016/j.ajhg.2019.09.022.
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Walton, E;
Hibar, D;
Yilmaz, Z;
Jahanshad, N;
Cheung, J;
Batury, V-L;
Seitz, J;
... Bulik, CM; + view all
(2019)
Exploration of Shared Genetic Architecture Between Subcortical Brain Volumes and Anorexia Nervosa.
Molecular Neurobiology
, 56
(7)
pp. 5146-5156.
10.1007/s12035-018-1439-4.
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Wei, W;
Tuna, S;
Keogh, MJ;
Smith, KR;
Aitman, TJ;
Beales, PL;
Bennett, DL;
... Chinnery, PF; + view all
(2019)
Germline selection shapes human mitochondrial DNA diversity.
Science
, 364
(6442)
, Article eaau6520. 10.1126/science.aau6520.
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Wheway, G;
Mitchison, H;
(2019)
Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project.
Frontiers in Genetics
, 10
, Article 127. 10.3389/fgene.2019.00127.
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Wigley, R;
Scalco, R S;
Gardiner, A R;
Godfrey, R;
Booth, S;
Kirk, R;
Hilton-Jones, D;
... Quinlivan, R; + view all
(2019)
The need for biochemical testing in beta‐enolase deficiency in the genomic era.
JIMD Reports
, 50
(1)
pp. 40-43.
10.1002/jmd2.12070.
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Yang, Y;
van der Klaauw, AA;
Zhu, L;
Cacciottolo, TM;
He, Y;
Stadler, LKJ;
Wang, C;
... Zhang, W; + view all
(2019)
Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis.
Nature Communications
, 10
, Article 1718. 10.1038/s41467-019-08737-6.
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Book
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Dattani, MT and Brook, CGD (Eds).
(2019)
Brook's Clinical Pediatric Endocrinology.
[Book].
(7th ed.).
Wiley-Blackwell: Oxford, UK.
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Book chapter
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Abril, JF;
Castellano Hereza, S;
(2019)
Genome Annotation.
In: Ranganathan, S and Gribskov, M and Schönbach, C, (eds.)
Encyclopedia of Bioinformatics and Computational Biology.
(pp. 195-209).
Elsevier: Amsterdam, Netherlands.
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Hart, SL;
Walker, AJ;
(2019)
New Genetic Approaches to Treating Diseases of the Skin.
In: Hoeger, PH and Kinsler, V and Yan, AC and Harper, J and Oranje, AP and Bodemer, C and Larralde, M and luk, D and Mendiratta, V and Purvis, D, (eds.)
Harper's Textbook of Pediatric Dermatology, 2 Volume Set.
Wiley-Blackwell
(In press).
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Hart, SL;
Walker, AJ;
Harrison, PT;
(2019)
New genetic approaches to treating cystic fibrosis.
In: Scherman, D, (ed.)
Advanced Textbook on Gene Transfer, Gene Therapy and Genetic Pharmacology.
World Scientific: London, UK.
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Conference item
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Perretta Tejedor, N;
Seda, M;
Jenkins, D;
Ronco, P;
Woolf, AS;
Winyard, P;
Long, DA;
(2019)
Vascular endothelial growth factor-C (VEGF-C) reduces cystogenesis in a human cellular model of polycystic kidney disease generated by CRISPR technology.
Presented at: UK Kidney Week 2019, Brighton, UK.
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Thesis
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Baird, William;
(2019)
Genetic therapy for congenital melanocytic naevi.
Doctoral thesis (Ph.D), UCL (University College London).
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Forsythe, Elizabeth;
(2019)
Understanding the phenotype and preparing for therapeutics in Bardet-Biedl syndrome.
Doctoral thesis (Ph.D), UCL (University College London).
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Gardner, Emily;
(2019)
Anti-vaccine activism: agnotological dissent and epistemic harm.
Masters thesis (M.Sc), UCL (University College London).
|
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Guelfi, Manuel Sebastian;
(2019)
Regulation of gene expression in human brain using transcriptome sequencing.
Doctoral thesis (Ph.D), UCL (University College London).
|
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Kenny, Joanna;
(2019)
Genomics and Personalised Medicine: Diagnostics, Deep Phenotyping and Pharmacogenomics in Cohorts of Rare Disease Patients.
Doctoral thesis (Ph.D), UCL (University College London).
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Walker, Amy;
(2019)
Delivery of CRISPR/Cas9 by receptor-targeted nanoparticles as a corrective therapy for Cystic Fibrosis.
Doctoral thesis (Ph.D), UCL (University College London).
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