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The Lancet, ISSN 0140-6736, 02/2019, Volume 393, Issue 10173, pp. 747 - 757
Journal Article
by French, Courtney E and Delon, Isabelle and Dolling, Helen and Sanchis-Juan, Alba and Shamardina, Olga and Mégy, Karyn and Abbs, Stephen and Austin, Topun and Bowdin, Sarah and Branco, Ricardo G and Firth, Helen and Tuna, Salih and Aitman, Timothy J and Ashford, Sofie and Astle, Willian J and Bennet, David L and Bleda, Marta and Carss, Keren J and Chinnery, Patrick F and Deevi, Sri V. V and Fletcher, Debra and Gale, Daniel P and Gräf, Stefan F and Hu, Fengyuan and James, Roger and Kasanicki, Mary A and Kingston, Nathalie and Koziell, Ania B and Allen, Hana Lango and Maher, Eamonn R and Markus, Hugh S and Meacham, Stuart and Morrell, Nicholas W and Penkett, Christopher J and Roberts, Irene and Smith, Kenneth G. C and Stark, Hannah and Stirrups, Kathleen E and Turro, Ernest and Watkins, Hugh and Williamson, Catherine and Young, Timothy and Bradley, John R and Ouwehand, Willem H and Raymond, F. Lucy and Agrawal, Shruti and Armstrong, Ruth and Beardsall, Kathryn and Belteki, Gusztav and Bohatschek, Marion and Broster, Susan and Campbell, Rosalie and Chaudhary, Rajiv and Costa, Cristine and D’Amore, Angela and Fitzsimmons, Annie and Hague, Jennifer and Harley, Joanne and Hoodbhoy, Shazia and Kayani, Riaz and Kelsall, Wilf and Mehta, Sarju G and O’Donnell, Roddy and O’Hare, Samantha and Ogilvy-Stuart, Amanda and Papakostas, Stergios and Park, Soo-Mi and Parker, Alasdair and Pathan, Nazima and Prapa, Matina and Sammut, Audrienne and Sandford, Richard and Schon, Katherine and Singh, Yogen and Spike, Kelly and Tavares, Ana Lisa Taylor and Wari-Pepple, Doris and Wong, Hilary S and Woods, C. Geoff and Raymond, F. Lucy and Rowitch, David H and Raymond, F. Lucy and NIHR BioResource-Rare Dis and Next Generation Children Project and NIHR BioResource—Rare Disease
Intensive Care Medicine, ISSN 0342-4642, 05/2019, Volume 45, Issue 5, pp. 627 - 636
PurposeWith growing evidence that rare single gene disorders present in the neonatal period, there is a need for rapid, systematic, and comprehensive genomic... 
Genetics | NICU | Critically ill children | Whole genome sequencing | Genomics | PICU | CRITICAL CARE MEDICINE | Genetic disorders | Analysis | Genetic aspects | Nucleotide sequencing | Risk factors | DNA sequencing | Neonates | Phenotypes | Nucleotide sequence | Decision making | Diagnostic software | Decisions | Genomes | Diagnostic systems | Children | Diagnosis | Gene sequencing | Data interpretation | Original
Journal Article
Lancet, The, ISSN 0140-6736, 2016, Volume 387, pp. S19 - S19
Abstract Background Germline mutations in the succinate dehydrogenase subunit genes SDHB, SDHC , and SDHD are the most frequent causes of inherited... 
Internal Medicine | Hospitals | Gene mutations | Genes | Genetic research | United Kingdom | Genetic aspects | Tumors
Journal Article
Lancet Oncology, The, ISSN 1470-2045, 2012, Volume 13, Issue 12, pp. 1242 - 1249
Journal Article
Lancet, The, ISSN 0140-6736, 2011, Volume 378, Issue 9809, pp. 2081 - 2087
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 06/2011, Volume 19, Issue 6, pp. 617 - 623
The autosomal dominantly inherited disorder von Hippel-Lindau disease (VHL) is caused by germline mutations in the VHL tumour suppressor gene (TSG). VHL... 
renal cysts | phaeochromocytoma | renal carcinoma | VHL | von Hippel-Lindau | haemangioblastoma | SPARING SURGERY | GENOTYPE-PHENOTYPE CORRELATIONS | BIOCHEMISTRY & MOLECULAR BIOLOGY | TUMOR-SUPPRESSOR GENE | ENDOCRINE NEOPLASIA TYPE-2 | NATURAL-HISTORY | RETINAL HEMANGIOBLASTOMA | RENAL-CELL CARCINOMA | RECEPTOR INHIBITOR SU5416 | GENETICS & HEREDITY | CENTRAL-NERVOUS-SYSTEM | ENDOLYMPHATIC SAC TUMORS | Genetic Predisposition to Disease | Carcinoma, Renal Cell - pathology | Pheochromocytoma - diagnosis | Pheochromocytoma - etiology | Hemangioblastoma - etiology | Humans | Carcinoma, Renal Cell - genetics | Hemangioblastoma - diagnosis | von Hippel-Lindau Disease - complications | von Hippel-Lindau Disease - genetics | von Hippel-Lindau Disease - diagnosis | Magnetic Resonance Imaging | von Hippel-Lindau Disease - pathology | Hemangioblastoma - pathology | Mass Screening | Genes, Dominant | Hemangioblastoma - genetics | Carcinoma, Renal Cell - diagnosis | Germ-Line Mutation | Pheochromocytoma - pathology | Pheochromocytoma - genetics | Von Hippel-Lindau Tumor Suppressor Protein - genetics | Adrenal Gland Neoplasms | Carcinoma, Renal Cell - etiology | Biomedical research | Medical imaging | Central nervous system | Retina | Nervous system | Family medical history | Preventive medicine | Patients | Von Hippel-Lindau disease | Reviews | Cysts | Genetics | VHL protein | Mutation | Neoplasia | Clear cell-type renal cell carcinoma | Cancer | Tumors | Practical Genetics | von Hippel–Lindau
Journal Article
Lancet, The, ISSN 0140-6736, 2011, Volume 377, Issue 9777, pp. 1624 - 1624
Journal Article
Lancet Neurology, The, ISSN 1474-4422, 2011, Volume 10, Issue 1, pp. 54 - 62
Summary Background Dopamine transporter deficiency syndrome is the first identified parkinsonian disorder caused by genetic alterations of the dopamine... 
Neurology | METABOLITES | TRANSMISSION | INFANTILE PARKINSONISM-DYSTONIA | CSF | NEUROSCIENCE | DISORDERS | TYROSINE-HYDROXYLASE DEFICIENCY | MONOAMINE TRANSPORTERS | CLINICAL NEUROLOGY | Brain - diagnostic imaging | Dystonia - cerebrospinal fluid | Parkinsonian Disorders - cerebrospinal fluid | Tomography, Emission-Computed, Single-Photon - methods | Humans | Child, Preschool | Dopamine Plasma Membrane Transport Proteins - deficiency | Hydroxyindoleacetic Acid - cerebrospinal fluid | Infant | Male | Ocular Motility Disorders - genetics | Dystonia - genetics | Transfection - methods | Parkinsonian Disorders - diagnostic imaging | Female | Parkinsonian Disorders - genetics | Retrospective Studies | Homovanillic Acid - cerebrospinal fluid | Child | Parkinsonian Disorders - physiopathology | Dystonia - physiopathology | Mutation - genetics | Dopamine Plasma Membrane Transport Proteins - genetics | Brain - pathology | Ocular Motility Disorders - physiopathology | Dystonia - diagnostic imaging | Cell Line, Transformed | Cohort Studies | Medical colleges | Medical research | Neurosciences | Dopamine | Molecular genetics | Medicine, Experimental | Phenols | Genetic aspects | Biomedical engineering | Pediatrics | Basal ganglia | Congenital defects | Central nervous system diseases | homovanillic acid | Photons | Cerebrospinal fluid | Pyramidal tracts | Drug development | Hereditary diseases | Eye | Hospitals | Computed tomography | Phenotyping | Dopamine transporter | Children | Mutation | Paralysis | Age | Movement disorders | Fast track
Journal Article