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1993, ISBN 0521459834, Volume 23., 46
This report presents the findings of a study of people affected by Huntington's chorea and their unaffected relatives, and in particular, of the incidence of... 
Book
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 | Index Medicus | 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 Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 138, Issue 6, pp. 1722 - 1725.e6
  To the Editor: Loss-of-function homozygous mutations in the CTP synthase 1 (CTPS1) gene in humans have only recently been discovered and reveal the role of... 
Allergy and Immunology | SUBSETS | HEALTHY-CHILDREN | IMMUNOLOGY | ALLERGY | REFERENCE VALUES | Medical genetics | Genotype & phenotype | Cell growth | Bacterial infections | Disease | Lymphocytes | Infections | Vaccines | Mutation | Patients | Age | Viral infections | Siblings | Index Medicus | Abridged Index Medicus
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 07/2012, Volume 20, Issue 7, pp. 769 - 777
Treacher-Collins-Franceschetti syndrome (TCS) is an autosomal dominant craniofacial disorder characterised by midface hypoplasia, micrognathia, downslanting... 
LIS1 | Treacher-Collins-Franceschetti syndrome | TCOF1 | mutation analysis | gene deletion | ALPHA-THALASSEMIA | BIOCHEMISTRY & MOLECULAR BIOLOGY | PROTEIN TREACLE | HOX GENES | IDENTIFICATION | TERMINATION CODON | PRODUCT | GENETICS & HEREDITY | MISSENSE MUTATION | POLYADENYLATION SIGNAL MUTATION | SYNDROME GENE | NONSENSE MUTATION | Predictive Value of Tests | Frameshift Mutation | Alternative Splicing | Microtubule-Associated Proteins - genetics | Exons | Microtubule-Associated Proteins - metabolism | Humans | Male | Mutation, Missense | DNA Mutational Analysis - methods | Phosphoproteins - metabolism | Genetic Testing - methods | DNA Copy Number Variations | Mandibulofacial Dysostosis - genetics | 1-Alkyl-2-acetylglycerophosphocholine Esterase - genetics | Mandibulofacial Dysostosis - diagnosis | Nucleotide Motifs | Gene Deletion | Sensitivity and Specificity | Female | Nuclear Proteins - genetics | Nuclear Proteins - metabolism | Gene Dosage | Phosphoproteins - genetics | 1-Alkyl-2-acetylglycerophosphocholine Esterase - metabolism | Pedigree | Gene Rearrangement | Genome, Human | Cohort Studies | Hypoplasia | Eyelid | Alternative splicing | Deafness | Nucleotide sequence | Laboratories | Genes | Ribosomal DNA | Homology | Gene deletion | Data bases | Hereditary diseases | Pathogenicity | Hospitals | Clonal deletion | Ear | Mutation | Diagnosis | Index Medicus | gene rearrangement | Treacher–Collins–Franceschetti syndrome
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 02/2014, Volume 22, Issue 2, pp. 184 - 191
Journal Article
Journal Article
by Faundes, Víctor and Newman, William G and Bernardini, Laura and Canham, Natalie and Clayton-Smith, Jill and Dallapiccola, Bruno and Davies, Sally J and Davies, Sally and Demos, Michelle K and Goldman, Amy and Gill, Harinder and Horton, Rachel and Kerr, Bronwyn and Kumar, Dhavendra and Kumar, V.K. Ajith and Lehman, Anna and McKee, Shane and Morton, Jenny and Parker, Michael and Parker, Michael J and Rankin, Julia and Robertson, Lisa and Temple, I. Karen and Adam, Shelin and du Souich, Christèle and Elliott, Alison M and Mwenifumbo, Jill and Nelson, Tanya N and van Karnebeek, Clara and Friedman, Jan M and 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, Jeffrey C and Barrett, Daniel M and Bayzetinova, Tanya and Jones, Wendy D and Jones, Philip and Jones, Elizabeth 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 Castle, Bruce and Chandler, Kate and Chatzimichali, Elena and Cilliers, Deirdre and Clarke, Angus and Clasper, Susan 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 ... and Clin Assessment Utility Sequencin and Deciphering Dev Disorders DD and Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Study and Deciphering Developmental Disorders (DDD) Study
The American Journal of Human Genetics, ISSN 0002-9297, 01/2018, Volume 102, Issue 1, pp. 175 - 187
Journal Article