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Gut, ISSN 0017-5749, 06/2018, Volume 67, Issue Suppl 1, p. A191
IntroductionAlthough national guidelines recommend screening colonoscopy in individuals with familial colorectal cancer, its value is uncertain in the case of... 
Journal Article
by McRae, Jeremy F and Clayton, Stephen and Fitzgerald, Tomas W and Kaplanis, Joanna and Prigmore, Elena and Rajan, Diana and Sifrim, Alejandro and Aitken, Stuart and Akawi, Nadia and Alvi, Mohsan and Ambridge, Kirsty and Barrett, Daniel M and Bayzetinova, Tanya and Jones, Philip and Jones, Wendy D and King, Daniel and Krishnappa, Netravathi and Mason, Laura E and Singh, Tarjinder and Tivey, Adrian R and Ahmed, Munaza and Anjum, Uruj and Archer, Hayley and Armstrong, Ruth and Awada, Jana and Balasubramanian, Meena and Banka, Siddharth and Baralle, Diana and Barnicoat, Angela and Batstone, Paul and Baty, David and Bennett, Chris and Berg, Jonathan and Bernhard, Birgitta and Bevan, A. Paul and Bitner-Glindzicz, Maria and Blair, Edward and Blyth, Moira and Bohanna, David and Bourdon, Louise and Bourn, David and Bradley, Lisa and Brady, Angela and Brent, Simon and Brewer, Carole and Brunstrom, Kate and Bunyan, David J and Burn, John and Canham, Natalie and Castle, Bruce and Chandler, Kate and Chatzimichali, Elena and Cilliers, Deirdre and Clarke, Angus and Clasper, Susan and Clayton-Smith, Jill and Clowes, Virginia and Coates, Andrea and Cole, Trevor and Colgiu, Irina and Collins, Amanda and Collinson, Morag N and Connell, Fiona and Cooper, Nicola and Cox, Helen and Cresswell, Lara and Cross, Gareth and Crow, Yanick and D'Alessandro, Mariella and Dabir, Tabib and Davidson, Rosemarie and Davies, Sally and De Vries, Dylan and Dean, John and Deshpande, Charu and Devlin, Gemma and Dixit, Abhijit and Dobbie, Angus and Donaldson, Alan and Donnai, Dian and Donnelly, Deirdre and Donnelly, Carina and Douglas, Angela and Douzgou, Sofia and Duncan, Alexis and Eason, Jacqueline and Ellard, Sian and Ellis, Ian and Elmslie, Frances and Evans, Karenza and Everest, Sarah and Fendick, Tina and Fisher, Richard and Flinter, Frances and Foulds, Nicola and Fry, Andrew and Fryer, Alan and Gardiner, Carol and Gaunt, Lorraine and Ghali, Neeti and ... and Deciphering Developmental Disorders Study
Nature, ISSN 0028-0836, 02/2017, Volume 542, Issue 7642, pp. 433 - 438
The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important... 
INTELLECTUAL DISABILITY | METAANALYSIS | VARIANTS | GENETICS | HEART-DEFECTS | MULTIDISCIPLINARY SCIENCES | GENES | SEQUENCE | FRAMEWORK | DISCOVERY | GENOME | Prevalence | Humans | Middle Aged | Parents | Male | Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics | Developmental Disabilities - genetics | Casein Kinase II - genetics | Autoantigens - genetics | Young Adult | ras GTPase-Activating Proteins - genetics | Adult | Female | Child | CDC2 Protein Kinase - genetics | Histone-Lysine N-Methyltransferase - genetics | Repressor Proteins - genetics | Sex Characteristics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Nerve Tissue Proteins - genetics | Sequence Analysis, DNA | Homeodomain Proteins - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Phenotype | Myeloid-Lymphoid Leukemia Protein - genetics | Adolescent | Heredity - genetics | Protein Phosphatase 2C - genetics | Cohort Studies | Child development deviations | Genetic aspects | Genetic disorders | Developmental disabilities | Distribution | Genes | Families & family life | Births | Genomes | Mutation | Causality | Estimates | Age | TRIO | MYT1L | EHMT1 | HNRNPU | SUV420H1 | COL4A3BP | SYNGAP1 | PPP2R1A | POGZ | EP300 | KCNH1 | SCN1A | MEF2C | CDKL5 | CSNK2A1 | DYRK1A | CASK | ALG13 | FOXP1 | KAT6B | TBL1XR1 | KAT6A | SCN8A | KCNQ2 | EEF1A2 | KCNQ3 | ADNP | PhenIcons | SET | KMT2A | ANKRD11 | STXBP1 | FOXG1 | ZC4H2 | ITPR1 | De novo mutation | Seizures | ZBTB18 | CREBBP | SMAD4 | PDHA1 | IQSEC2 | AUTS2 | BCL11A | BRAF | SMARCA2 | GRIN2B | MED13L | GNAO1 | CNOT3 | TCF4 | SCN2A | CDK13 | GABRB3 | SETD5 | KDM5B | Developmental Disease | DDX3X | CHD8 | PTEN | CHD4 | TCF20 | CTCF | CHD2 | WDR45 | SLC6A1 | MECP2 | CHAMP1 | KIF1A | Average Faces | MSL3 | PPP2R5D | SMC1A | ARID1B | DNM1 | CNKSR2 | PACS1 | WAC | ZMYND11 | AHDC1 | NFIX | SATB2 | HDAC8 | PPM1D | GNAI1 | PURA | PUF60 | NSD1 | Intellectual Disability | SLC35A2 | DYNC1H1 | NAA10 | USP9X | PTPN11 | GATAD2B | ASXL1 | KANSL1 | ASXL3 | CTNNB1 | QRICH1
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 09/2016, Volume 87, Issue Suppl 1, pp. A79 - A80
BackgroundAn evidence-based framework for a basic minimum standard of care is required, not only to maximise health and quality of life for patients and their... 
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 09/2016, Volume 87, Issue Suppl 1, pp. A83 - A83
BackgroundUK guidelines advise genetics professionals to support and encourage family communication about genetic risk. However, parents can experience a lack... 
Journal Article
Journal of Genetic Counseling, ISSN 1059-7700, 10/2019
Journal Article
Nature Genetics, ISSN 1061-4036, 09/2011, Volume 43, Issue 9, pp. 879 - 882
Journal Article
Journal of Neurology, Neurosurgery and Psychiatry, ISSN 0022-3050, 09/2018, Volume 89, Issue Suppl 1, p. A69
Background The production of meaningful evidence about the effectiveness of complex care delivery interventions requires clear definition and consistent use of... 
Journal Article
Nature Genetics, ISSN 1061-4036, 05/2015, Volume 47, Issue 6, pp. 579 - 581
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2019, Volume 27, Issue 8, pp. 1215 - 1224
Huntington’s disease (HD) is a severe neurodegenerative condition that impacts the whole family. Prenatal diagnosis by direct or exclusion testing is available... 
Pregnancy | Huntingtons disease | Medical personnel | Prenatal diagnosis | Risk groups | Decision making | Autonomy | Clinical medicine | Huntington's disease
Journal Article
Nature, ISSN 0028-0836, 01/2013, Volume 493, Issue 7432, pp. 406 - 410
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 10/2016, Volume 24, Issue 10, pp. 1396 - 1402
Huntington's disease (HD) is a progressive neurodegenerative condition. At-risk individuals have accessed predictive testing via direct mutation testing since... 
Huntingtons disease | Gender | Huntington's disease | Primary care | Data bases | Consortia | Hospitals | Data collection | Population | Genetics | Mutation | Public health | Cancer
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 09/2016, Volume 87, Issue Suppl 1, pp. A80 - A80
BackgroundThe complexity of HD and its progression over time mean that those affected require the care and support of a variety of health, social and voluntary... 
Journal Article
Journal of Anatomy, ISSN 0021-8782, 01/2003, Volume 202, Issue 1, pp. 37 - 42
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 04/2018, Volume 26, Issue 4, pp. 599 - 603
Journal Article