UCL Discovery
UCL home » Library Services » Electronic resources » UCL Discovery

Browse by UCL Departments and Centres

Up a level
Export as [feed] Atom [feed] RSS 1.0 [feed] RSS 2.0
Group by: Author | Type
Jump to: A | B | C | D | E | F | G | H | I | K | L | M | N | P | R | S | T | V | W | Y
Number of items: 144.

A

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.

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. Green open access
file

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. Green open access
file

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. Green open access
file

B

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. Green open access
file

Baird, William; (2019) Genetic therapy for congenital melanocytic naevi. Doctoral thesis (Ph.D), UCL (University College London).

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. Green open access
file

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).

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.

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. Green open access
file

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. Green open access
filefile

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. Green open access
file

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. Green open access
file

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. Green open access
file

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. Green open access
filefile

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. Green open access
file

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. Green open access
filefilefilefilefilefilefilefilefilefile

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. Green open access
file

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. Green open access
file

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. Green open access
filefile

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. Green open access
file

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. Green open access
file

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. Green open access
file

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. Green open access
file

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. Green open access
file

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). Green open access
file

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. Green open access
file

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). Green open access
file

C

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. Green open access
file

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. Green open access
file

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). Green open access
file

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). Green open access
file

Clayton, P; (2019) The effectiveness of correcting abnormal metabolic profiles. Journal of Inherited Metabolic Disease 10.1002/jimd.12139. (In press). Green open access
file

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). Green open access
file

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. Green open access
file

D

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. Green open access
filefilefile

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. Green open access
file

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. Green open access
file

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. Green open access
file

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). Green open access
file

Demetriou, C; Chanudet, E; GOSgene, .; Joseph, A; Topf, M; Thomas, AC; Bitner-Glindzicz, M; ... Moore, GE; + view all (2019) Exome sequencing identifies variants in FKBP4 that are associated with recurrent fetal loss in humans. Human Molecular Genetics , 28 (20) pp. 3466-3474. 10.1093/hmg/ddz203. Green open access
file

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). Green open access
file

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. Green open access
filefilefilefilefilefile

E

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). Green open access
file

F

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. Green open access
file

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. Green open access
file

Forsythe, Elizabeth; (2019) Understanding the phenotype and preparing for therapeutics in Bardet-Biedl syndrome. Doctoral thesis (Ph.D), UCL (University College London). Green open access
file

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). Green open access
file

Fulop, N; Capelas Barbosa, E; Hill, M; Ledger, J; Sherlaw-Johnson, C; Spencer, J; Vindrola, C; (2019) Special Measures for Quality and Challenged Providers: Study Protocol for Evaluating the Impact of Improvement Interventions in NHS Trusts. International Journal of Health Policy and Management 10.15171/ijhpm.2019.100. (In press). Green open access
file

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. Green open access
file

G

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. Green open access
file

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. Green open access
file

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). Green open access
file

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. Green open access
file

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). Green open access
file

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. Green open access
filefilefilefile

Guelfi, Manuel Sebastian; (2019) Regulation of gene expression in human brain using transcriptome sequencing. Doctoral thesis (Ph.D), UCL (University College London). Green open access
file

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. Green open access
file

H

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). Green open access
file

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. Green open access
filefile

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). Green open access
filefilefile

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.

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. Green open access
file

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. Green open access
file

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). Green open access
file

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. Green open access
file

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. Green open access
file

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. Green open access
file

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). Green open access
file

Howe, LJ; Richardson, TG; Arathimos, R; Alvizi, L; Passos-Bueno, M-R; Stanier, PM; Nohr, E; ... Sharp, GC; + view all (2019) Evidence for DNA methylation mediating genetic liability to non-syndromic cleft lip/palate. Epigenomics 10.2217/epi-2018-0091. (In press). Green open access
file

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. Green open access
file

Hutchinson, C; Shelmerdine, SC; Lewis, C; Parmenter, J; Simcock, IC; Ward, L; Ashworth, MT; ... Sebire, NJ; + view all (2019) Minimally invasive perinatal and pediatric autopsy with laparoscopically assisted tissue sampling: feasibility and experience of the MinImAL procedure. Ultrasound in Obstetrics & Gynecology , 54 (5) pp. 661-669. 10.1002/uog.20211. Green open access
file

I

Ivanova, R; Benton, DCH; Munye, MM; Rangseesorranan, S; Hart, SL; Moss, GWJ; (2019) A Nanosensor Toolbox for Rapid, Label-Free Measurement of Airway Surface Liquid and Epithelial Cell Function. ACS Applied Materials and Interfaces 10.1021/acsami.8b14122. (In press). Green open access
file

K

Keatley, K; Stromei-Cleroux, S; Wiltshire, T; Rajala, N; Burton, G; Holt, WV; Littlewood, DTJ; ... McGeehan, RE; + view all (2019) Integrated Approach Reveals Role of Mitochondrial Germ-Line Mutation F18L in Respiratory Chain, Oxidative Alterations, Drug Sensitivity, and Patient Prognosis in Glioblastoma. MDPI — IJMS , 20 (13) , Article 3364. 10.3390/ijms20133364. Green open access
file

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). Green open access
filefilefilefilefilefilefile

Kiff, S; Babb, C; Guemes, M; Dastamani, A; Gilbert, C; Flanagan, SE; Ellard, S; ... Shah, P; + view all (2019) Partial diazoxide responsiveness in a neonate with hyperinsulinism due to homozygous ABCC8 mutation. Endocrinology, Diabetes and Metabolism Case Reports , 2019 (1) 10.1530/EDM-18-0120. Green open access
file

Kittler, NW; Mathes, EF; Kinsler, V; Frieden, IJ; (2019) The biker-glove pattern of congenital melanocytic nevi. Pediatric Dermatology , 36 (6) pp. 918-921. 10.1111/pde.13939. Green open access
file

Krieger, TG; Moran, CM; Frangini, A; Visser, WE; Schoenmakers, E; Muntoni, F; Clark, CA; ... Livesey, FJ; + view all (2019) Mutations in thyroid hormone receptor α1 cause premature neurogenesis and progenitor cell depletion in human cortical development. Proceedings of the National Academy of Sciences of the United States of America , 116 (45) pp. 22754-22763. 10.1073/pnas.1908762116. Green open access
file

Kör, D; Şeker-Yılmaz, B; Bulut, FD; Kılavuz, S; Öktem, M; Ceylaner, S; Yıldızdaş, D; (2019) Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations. The Turkish Journal of Pediatrics , 61 (3) pp. 330-336. 10.24953/turkjped.2019.03.003. Green open access
file

L

Lambert, JRA; Howe, SJ; Rahim, AA; Burke, DG; Heales, SJR; (2019) Inhibition of Mitochondrial Complex I Impairs Release of α-Galactosidase by Jurkat Cells. International Journal of Molecular Sciences , 20 (18) , Article 4349. 10.3390/ijms20184349. Green open access
file

Lewis, C; Hutchinson, JC; Riddington, M; Hill, M; Arthurs, OJ; Fisher, J; Wade, A; ... Sebire, NJ; + view all (2019) Minimally invasive autopsy for fetuses and children based on a combination of post-mortem MRI and endoscopic examination: a feasibility study. Health Technology Assessment , 23 (46) 10.3310/hta23460. Green open access
file

Lewis, C; Loe, BS; Sidey-Gibbons, C; Patch, C; Chitty, LS; Sanderson, SC; (2019) Development of a measure of genome sequencing knowledge for young people: The kids-KOGS. Clinical Genetics , 96 (5) pp. 411-417. 10.1111/cge.13607. Green open access
file

Lewis, C; Riddington, M; Hill, M; Arthurs, OJ; Hutchinson, JC; Chitty, LS; Bevan, C; ... Sebire, NJ; + view all (2019) Availability of less invasive prenatal, perinatal and paediatric autopsy will improve uptake rates: a mixed‐methods study with bereaved parents. BJOG: An International Journal of Obstetrics & Gynaecology , 126 (6) pp. 745-753. 10.1111/1471-0528.15591. Green open access
file

Lewis, C; Riddington, M; Hill, M; Bevan, C; Fisher, J; Lyas, L; Chalmers, A; ... Sebire, N; + view all (2019) "The communication and support from the health professional is incredibly important": A qualitative study exploring the processes and practices that support parental decision-making about postmortem examination. Prenatal Diagnosis , 39 (13) pp. 1242-1253. 10.1002/pd.5575. Green open access
file

Little, D; Ketteler, R; Gissen, P; Devine, MJ; (2019) Using stem cell-derived neurons in drug screening for neurological diseases. Neurobiology of Aging , 78 pp. 130-141. 10.1016/j.neurobiolaging.2019.02.008. Green open access
file

Little, D; Luft, C; Mosaku, O; Ketteler, R; Devine, MJ; Gissen, P; (2019) High-Content Analysis of Mitochondrial Function in iPSC-Derived Neurons. Methods in Molecular Biology , 1994 pp. 175-184. 10.1007/978-1-4939-9477-9_16. Green open access
file

Little, D; Luft, C; Mosaku, O; Ketteler, R; Devine, MJ; Gissen, P; (2019) High-Content Autophagy Analysis in iPSC-Derived Neurons Using Immunofluorescence. Methods in Molecular Biology , 1994 pp. 165-174. 10.1007/978-1-4939-9477-9_15. Green open access
file

Little, D; Luft, C; Pezzini-Picart, O; Mosaku, O; Ketteler, R; Devine, MJ; Gissen, P; (2019) Seeding Induced Pluripotent Stem Cell-Derived Neurons onto 384-Well Plates. Methods in Molecular Biology , 1994 pp. 159-164. 10.1007/978-1-4939-9477-9_14. Green open access
file

Lord, J; McMullan, DJ; Eberhardt, RY; Rinck, G; Hamilton, SJ; Quinlan-Jones, E; Prigmore, E; ... Prenatal Assessment of Genomes and Exomes Consortium, ; + view all (2019) Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. The Lancet , 393 (10173) pp. 747-757. 10.1016/S0140-6736(18)31940-8. Green open access
file

M

Maekawa, M; Jinnoh, I; Matsumoto, Y; Narita, A; Mashima, R; Takahashi, H; Iwahori, A; ... Mano, N; + view all (2019) Structural Determination of Lysosphingomyelin-509 and Discovery of Novel Class Lipids from Patients with Niemann–Pick Disease Type C. International Journal of Molecular Sciences , 20 (20) , Article 5018. 10.3390/ijms20205018. Green open access
file

Maekawa, M; Jinnoh, I; Narita, A; Iida, T; Saigusa, D; Iwahori, A; Nittono, H; ... Mano, N; + view all (2019) Development of a simultaneous analytical method for five conjugated cholesterol metabolites in urine and investigation of their performance as diagnostic markers for Niemann-Pick disease type C. Journal of Lipid Research 10.1194/jlr.M093971. (In press). Green open access
file

Maekawa, M; Narita, A; Jinnoh, I; Iida, T; Marquardt, T; Mengel, E; Eto, Y; ... Mano, N; + view all (2019) Diagnostic performance evaluation of sulfate-conjugated cholesterol metabolites as urinary biomarkers of Niemann-Pick disease type C. Clinica Chimica Acta , 494 pp. 58-63. 10.1016/j.cca.2019.03.1610. Green open access
file

Maharaj, A; Buonocore, F; Meimaridou, E; Ruiz-Babot, G; Guasti, L; Peng, H-M; Capper, CP; ... Metherell, LA; + view all (2019) Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing. Journal of the Endocrine Society , 3 (1) pp. 201-221. 10.1210/js.2018-00130. Green open access
file

Maldonado, EM; Taha, F; Rahman, J; Rahman, S; (2019) Systems Biology Approaches Toward Understanding Primary Mitochondrial Diseases. Frontiers in Genetics , 10 , Article 19. 10.3389/fgene.2019.00019. Green open access
file

Mazzacuva, F; Lorvellec, M; Cilibrizzi, A; Mills, K; Clayton, P; Gissen, P; (2019) Measurement of Bile Acids as a Marker of the Functionality of iPSC-Derived Hepatocytes. Cell-Based Assays Using iPSCs for Drug Development and Testing , 1994 pp. 141-147. 10.1007/978-1-4939-9477-9_12. Green open access
filefilefilefile

Mazzacuva, F; Lorvellec, M; Cilibrizzi, A; Mills, K; Heywood, WE; Clayton, P; Gissen, P; (2019) Mass Spectrometry Measurement of Albumin-Alpha Fetoprotein Ratio as an Indicator of iPSC-Derived Hepatocyte Differentiation. Cell-Based Assays Using iPSCs for Drug Development and Testing , 1994 pp. 149-156. 10.1007/978-1-4939-9477-9_13. Green open access
filefilefilefilefilefilefilefile

McElreavey, K; Jorgensen, A; Eozenou, C; Merel, T; Bignon-Topalovic, J; Tan, DS; Houzelstein, D; ... Bashamboo, A; + view all (2019) Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome. Genetics in Medicine 10.1038/s41436-019-0606-y. (In press). Green open access
file

Mills, PB; Clayton, P; Wilson, M; Plecko, B; (2019) Disorders affecting vitamin B₆ metabolism. Journal of Inherited Metabolic Disease , 42 (4) pp. 629-646. 10.1002/jimd.12060. Green open access
file

Minikel, EV; Vallabh, SM; Orseth, MC; Brandel, J-P; Haïk, S; Laplanche, J-L; Zerr, I; ... Mead, S; + view all (2019) Age at onset in genetic prion disease and the design of preventive clinical trials. Neurology , 93 (2) e125-e134. 10.1212/WNL.0000000000007745.

Mitchison, H; (2019) Clinical utility of NGS diagnosis and disease stratification in a multi-ethnic primary ciliary dyskinesia cohort. Journal of Medical Genetics 10.1136/jmedgenet-2019-106501. (In press). Green open access
filefile

Mohammadi, A; Kudsiova, L; Mustapa, MFM; Campbell, F; Vlaho, D; Welser, K; Story, H; ... Hailes, HC; + view all (2019) The discovery and enhanced properties of trichain lipids in lipopolyplex gene delivery systems. Organic and Biomolecular Chemistry 10.1039/c8ob02374c. Green open access
file

Mole, SE; Anderson, G; Band, HA; Berkovic, SF; Cooper, JD; Kleine Holthaus, S-M; McKay, TR; ... Smith, AJ; + view all (2019) Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis. [Review]. Lancet Neurology , 18 (1) pp. 107-116. 10.1016/S1474-4422(18)30368-5. Green open access
file

N

Nalls, MA; Blauwendraat, C; Vallerga, CL; Heilbron, K; Bandres-Ciga, S; Chang, D; Tan, M; ... Guerreiro, R; + view all (2019) Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies. The Lancet Neurology , 18 (12) pp. 1091-1102. 10.1016/S1474-4422(19)30320-5. Green open access
file

Ng, X; Sadeghian, M; Heales, S; Hargreaves, IP; (2019) Assessment of Mitochondrial Dysfunction in Experimental Autoimmune Encephalomyelitis (EAE) Models of Multiple Sclerosis. International Journal of Molecular Sciences , 20 (20) , Article 4975. 10.3390/ijms20204975. Green open access
file

P

Parikh, S; Karaa, A; Goldstein, A; Bertini, ES; Chinnery, PF; Christodoulou, J; Cohen, BH; ... Rahman, S; + view all (2019) Diagnosis of 'possible' mitochondrial disease: an existential crisis. Journal of Medical Genetics 10.1136/jmedgenet-2018-105800. (In press). Green open access
file

Pereira, BI; Devine, OP; Vukmanovic-Stejic, M; Chambers, ES; Subramanian, P; Patel, N; Virasami, A; ... Akbar, AN; + view all (2019) Senescent cells evade immune clearance via HLA-E-mediated NK and CD8^{+} T cell inhibition. Nature Communications , 10 (1) , Article 2387. 10.1038/s41467-019-10335-5. Green open access
file

Perocheau, D; Cunningham, S; Lee, J; Antinao Diaz, J; Waddington, SN; Gilmour, K; Eaglestone, S; ... Baruteau, J; + view all (2019) Age-Related Seroprevalence of Antibodies Against AAV-LK03 in a UK Population Cohort. Human Gene Therapy , 30 (1) pp. 79-87. 10.1089/hum.2018.098. Green open access
file

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. Green open access
file

Peters, MJ; Williams, HJ; (2019) Information Is the Resolution of Uncertainty: Whole Genome Approaches to Genetic Diagnosis on the PICU. [Editorial comment]. Pediatric Critical Care Medicine , 20 (11) pp. 1087-1088. 10.1097/PCC.0000000000002091. Green open access
file

Polubothu, S; McGuire, N; Al-Olabi, L; Baird, W; Bulstrode, N; Chalker, J; Josifova, D; ... Kinsler, VA; + view all (2019) Does the gene matter? Genotype-phenotype and genotype-outcome associations in congenital melanocytic naevi. British Journal of Dermatology 10.1111/bjd.18106. (In press). Green open access
file

Pope, S; Artuch, R; Heales, S; Rahman, S; (2019) Cerebral folate deficiency: Analytical tests and differential diagnosis. Journal of Inherited Metabolic Disease , 42 (4) pp. 655-672. 10.1002/jimd.12092. Green open access
file

R

Rahman, J; Rahman, S; (2019) The utility of phenomics in diagnosis of inherited metabolic disorders. Clinical Medicine , 19 (1) pp. 30-36. 10.7861/clinmedicine.19-1-30. Green open access
file

Rahman, S; (2019) Advances in the treatment of mitochondrial epilepsies. Epilepsy & Behavior , 101 , Article 106546. 10.1016/j.yebeh.2019.106546. Green open access
file

Rahman, S; Baumgartner, M; (2019) B Vitamins: Small molecules, big effects. [Editorial comment]. Journal of Inherited Metabolic Disease , 42 (4) pp. 579-580. 10.1002/jimd.12127. Green open access
file

Reynolds, RH; Botía, J; Nalls, MA; International Parkinson’s Disease Genomics Consortium (IPDGC), .; System Genomics of Parkinson’s Disease (SGPD), .; Hardy, J; Gagliano Taliun, SA; (2019) Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson's disease heritability. NPJ Parkinson's Disease , 5 , Article 6. 10.1038/s41531-019-0076-6. Green open access
file

Reynolds, RH; Hardy, J; Ryten, M; Gagliano Taliun, SA; (2019) Informing disease modelling with brain-relevant functional genomic annotations. Brain 10.1093/brain/awz295. (In press). Green open access
file

Riachi, M; Bas, F; Darendeliler, F; Hussain, K; (2019) A novel 3' untranslated region mutation in the SLC29A3 gene associated with pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus syndrome. Pediatric Diabetes , 20 (4) pp. 474-481. 10.1111/pedi.12839. Green open access
file

Riachi, M; Yilmaz, S; Kurnaz, E; Aycan, Z; Çetinkaya, S; Tranebjærg, L; Rendtorff, ND; ... Hussain, K; + view all (2019) Functional Assessment of Variants Associated with Wolfram Syndrome. Human Molecular Genetics , 28 (22) pp. 3815-3824. 10.1093/hmg/ddz212. Green open access
file

Roy, S; Hartley, J; Dunn, H; Williams, R; Williams, CA; Breuer, J; (2019) Whole-genome Sequencing Provides Data for Stratifying Infection Prevention and Control Management of Nosocomial Influenza A. Clinical Infectious Diseases 10.1093/cid/ciz020. (In press). Green open access
file

S

Salih, DA; Bayram, S; Guelfi, S; Reynolds, RH; Shoai, M; Ryten, M; Brenton, J; ... Hardy, J; + view all (2019) Genetic variability in response to amyloid beta deposition influences Alzheimer's disease risk. Brain Communications 10.1093/braincomms/fcz022. (In press). Green open access
filefile

Sanderson, SC; Hill, M; Patch, C; Searle, B; Lewis, C; Chitty, LS; (2019) Delivering genome sequencing in clinical practice: an interview study with healthcare professionals involved in the 100 000 Genomes Project. BMJ Open , 9 (11) , Article e029699. 10.1136/bmjopen-2019-029699. Green open access
file

Saoura, M; Powell, CA; Kopajtich, R; Alahmad, A; Al-Balool, HH; Albash, B; Alfadhel, M; ... Minczuk, M; + view all (2019) Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing. Human Mutation , 40 (10) pp. 1731-1748. 10.1002/humu.23777. Green open access
file

Schmidt, JM; de Manuel, M; Marques-Bonet, T; Castellano, S; Andrés, AM; (2019) The impact of genetic adaptation on chimpanzee subspecies differentiation. PLoS Genetics , 15 (11) , Article e1008485. 10.1371/journal.pgen.1008485. (In press). Green open access
file

Seda, M; Geerlings, M; Lim, P; Jayabalan-Srikaran, J; Cichon, A-C; Scambler, PJ; Beales, PL; ... Jenkins, D; + view all (2019) An FDA-Approved Drug Screen for Compounds Influencing Craniofacial Skeletal Development and Craniosynostosis. Molecuar Syndromology , 10 (1-2) 10.1159/000491567. (In press). Green open access
file

Seda, M; Peskett, E; Demetriou, C; Bryant, D; Moore, G; Stanier, P; Jenkins, D; (2019) Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene PTDSS1 in skeletal cell lineages. Child Health Open Research , 8 , Article 273. 10.12688/f1000research.17314.1. Green open access
file

Seselgyte, R; Bryant, D; Demetriou, C; Ishida, M; Peskett, E; Moreno, N; Morrogh, D; ... Stanier, P; + view all (2019) Disruption of FOXF2 as a Likely Cause of Absent Uvula in an Egyptian Family. Journal of Dental Research , 98 (6) pp. 659-665. 10.1177/0022034519837245. Green open access
file

Shelmerdine, SC; Arthurs, OJ; Gilpin, I; Norman, W; Jones, R; Taylor, AM; Sebire, NJ; (2019) Is traditional perinatal autopsy needed after detailed fetal ultrasound and post-mortem MRI? Prenatal Diagnosis , 39 (9) pp. 818-829. 10.1002/pd.5448. Green open access
file

Sironen, A; Shoemark, A; Patel, M; Loebinger, MR; Mitchison, HM; (2019) Sperm defects in primary ciliary dyskinesia and related causes of male infertility. Cellular and Molecular Life Sciences 10.1007/s00018-019-03389-7. (In press). Green open access
file

Sliepka, JM; McGriff, SC; Rossetti, LZ; Bizargity, P; Streff, H; Lee, Y-S; Dai, H; ... Marafi, D; + view all (2019) GNA11 brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis. Neurology Genetics , 5 (6) , Article e366. 10.1212/NXG.0000000000000366. Green open access
file

Smets, F; Dobbelaere, D; McKiernan, P; Dionisi-Vici, C; Broue, P; Jacquemin, E; Lopes, AI; ... Sokal, E; + view all (2019) Phase I/II Trial of Liver-derived Mesenchymal Stem Cells in Pediatric Liver-based Metabolic Disorders: A Prospective, Open Label, Multicenter, Partially Randomized, Safety Study of One Cycle of Heterologous Human Adult Liver-derived Progenitor Cells (HepaStem) in Urea Cycle Disorders and Crigler-Najjar Syndrome Patients. Transplantation , 103 (9) pp. 1903-1915. 10.1097/TP.0000000000002605. Green open access
file

Sommerlad, B; Seselgyte, R; Lees, M; Pauws, E; Stanier, P; Sell, D; (2019) Familial absent uvula with velopharyngeal incompetence - a new syndrome? The Cleft Palate-Craniofacial Journal 10.1177/1055665619880401. (In press). Green open access
file

Suntharalingham, JP; Ishida, M; Buonocore, F; del Valle, I; Solanky, N; Demetriou, C; Regan, L; ... Achermann, JC; + view all (2019) Analysis of CDKN1C in fetal growth restriction and pregnancy loss. F1000Research , 8 , Article 90. 10.12688/f1000research.15016.1. Green open access
file

Swarup, V; Hinz, FI; Rexach, JE; Noguchi, K-I; Toyoshiba, H; Oda, A; Hirai, K; ... Geschwind, DH; + view all (2019) Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia. Nature Medicine , 25 (1) pp. 152-164. 10.1038/s41591-018-0223-3. Green open access
filefilefilefilefile

T

Tahoun, M; Chandler, JC; Ashton, E; Haston, S; Hannan, A; Kim, JS; D'Arco, F; ... Waters, AM; + view all (2019) 'Mutations in LAMB2 associate with albuminuria and Optic Nerve Hypoplasia with Hypopituitarism'. The Journal of Clinical Endrocrinology & Metabolism , 105 (3) pp. 595-599. 10.1210/clinem/dgz216. Green open access
file

V

Vabres, P; Sorlin, A; Kholmanskikh, SS; Demeer, B; St-Onge, J; Duffourd, Y; Kuentz, P; ... Riviere, J-B; + view all (2019) Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome. Nature Genetics , 51 pp. 1438-1441. 10.1038/s41588-019-0498-4. Green open access
file

Vadgama, N; Pittman, A; Simpson, M; Nirmalananthan, N; Murray, R; Yoshikawa, T; De Rijk, P; ... Nasir, J; + view all (2019) De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes. European Journal of Human Genetics , 27 (7) pp. 1121-1133. 10.1038/s41431-019-0376-7. Green open access
file

Van Dam, TJP; Kennedy, J; Van der Lee, R; De Vrieze, E; Wunderlich, KA; Rix, S; Dougherty, GW; ... Huynen, MA; + view all (2019) CiliaCarta: An integrated and validated compendium of ciliary genes. PLOS ONE , 14 (5) , Article e0216705. 10.1371/journal.pone.0216705. Green open access
file

W

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). Green open access
file

Wallmeier, J; Frank, D; Shoemark, A; Nöthe-Menchen, T; Cindric, S; 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. Green open access
filefile

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. Green open access
file

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. Green open access
file

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. Green open access
file

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. Green open access
file

Y

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. Green open access
file

This list was generated on Mon Apr 12 01:38:52 2021 BST.