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1. Full Text Prevalence and architecture of de novo mutations in developmental disorders
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
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2. Full Text Prediction of single‐nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6
by Raponi, Michela and Kralovicova, Jana and Copson, Ellen and Divina, Petr and Eccles, Diana and Johnson, Peter and Baralle, Diana and Vorechovsky, Igor
Human Mutation, ISSN 1059-7794, 04/2011, Volume 32, Issue 4, pp. 436 - 444
Missense, nonsense, and translationally silent mutations can inactivate genes by altering the inclusion of mutant exons in mRNA, but their overall frequency... 
BRCA1 | splicing | RNA | gene | Gene | Splicing | DEFINITION | SITE ACTIVATION | SEQUENCE MOTIFS | UNCLASSIFIED VARIANTS | ENHANCERS | REGULATORY ELEMENTS | MESSENGER-RNA | SR PROTEINS | GENETICS & HEREDITY | CFTR EXON-12 | NONSENSE MUTATION | Alternative Splicing | Exons | Humans | Molecular Sequence Data | Regulatory Sequences, Ribonucleic Acid | RNA, Messenger - metabolism | BRCA1 Protein - genetics | RNA Splicing | BRCA1 Protein - metabolism | Base Sequence | Female | Models, Genetic | HeLa Cells | Mutation | Index Medicus | Enhancers | Translation | Databases | BRCA1 protein | Mutagenesis | Exon skipping | Internet
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3. Full Text Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
by Snijders Blok, Lot and Rousseau, Justine and Twist, Joanna and Ehresmann, Sophie and Takaku, Motoki and Venselaar, Hanka and Rodan, Lance H and Nowak, Catherine B and Douglas, Jessica and Swoboda, Kathryn J and Steeves, Marcie A and Sahai, Inderneel and Stumpel, Connie T R M and Stegmann, Alexander P A and Wheeler, Patricia and Willing, Marcia and Fiala, Elise and Kochhar, Aaina and Gibson, William T and Cohen, Ana S A and Agbahovbe, Ruky and Innes, A Micheil and Au, P Y Billie and Rankin, Julia and Anderson, Ilse J and Skinner, Steven A and Louie, Raymond J and Warren, Hannah E and Afenjar, Alexandra and Keren, Boris and Nava, Caroline and Buratti, Julien and Isapof, Arnaud and Rodriguez, Diana and Lewandowski, Raymond and Propst, Jennifer and van Essen, Ton and Choi, Murim and Lee, Sangmoon and Chae, Jong H and Price, Susan and Schnur, Rhonda E and Douglas, Ganka and Wentzensen, Ingrid M and Zweier, Christiane and Reis, André and Bialer, Martin G and Moore, Christine and Koopmans, Marije and Brilstra, Eva H and Monroe, Glen R and van Gassen, Koen L I and van Binsbergen, Ellen and Newbury-Ecob, Ruth and Bownass, Lucy and Bader, Ingrid and Mayr, Johannes A and Wortmann, Saskia B and Jakielski, Kathy J and Strand, Edythe A and Kloth, Katja and Bierhals, Tatjana and Roberts, John D and Petrovich, Robert M and Machida, Shinichi and Kurumizaka, Hitoshi and Lelieveld, Stefan and Pfundt, Rolph and Jansen, Sandra and Deriziotis, Pelagia and Faivre, Laurence and Thevenon, Julien and Assoum, Mirna and Shriberg, Lawrence and Kleefstra, Tjitske and Brunner, Han G and Wade, Paul A and Fisher, Simon E and Campeau, Philippe M and DDD study and The DDD study
Nature communications, ISSN 2041-1723, 05/2019, Volume 10, Issue 1, pp. 2079 - 4
The HTML and PDF versions of this Article were updated after publication to remove images of one individual from Figure 1. 
DNA helicase | Neurodevelopmental disorders | Mutation
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4. Full Text Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
by Blok, Lot Snijders and Rousseau, Justine and Twist, Joanna and Ehresmann, Sophie and Takaku, Motoki and Venselaar, Hanka and Rodan, Lance H and Nowak, Catherine B and Douglas, Jessica and Swoboda, Kathryn J and Steeves, Marcie A and Sahai, Inderneel and Stumpel, Connie T R M and Stegmann, Alexander P A and Wheeler, Patricia and Willing, Marcia and Fiala, Elise and Kochhar, Aaina and Gibson, William T and Cohen, Ana S A and Agbahovbe, Ruky and Innes, A Micheil and Au, P Y Billie and Rankin, Julia and Anderson, Ilse J and Skinner, Steven A and Louie, Raymond J and Warren, Hannah E and Afenjar, Alexandra and Keren, Boris and Nava, Caroline and Buratti, Julien and Isapof, Arnaud and Rodriguez, Diana and Lewandowski, Raymond and Propst, Jennifer and van Essen, Ton and Choi, Murim and Lee, Sangmoon and Chae, Jong H and Price, Susan and Schnur, Rhonda E and Douglas, Ganka and Wentzensen, Ingrid M and Zweier, Christiane and Reis, André and Bialer, Martin G and Moore, Christine and Koopmans, Marije and Brilstra, Eva H and Monroe, Glen R and van Gassen, Koen L I and van Binsbergen, Ellen and Newbury-Ecob, Ruth and Bownass, Lucy and Bader, Ingrid and Mayr, Johannes A and Wortmann, Saskia B and Jakielski, Kathy J and Strand, Edythe A and Kloth, Katja and Bierhals, Tatjana and Roberts, John D and Petrovich, Robert M and Machida, Shinichi and Kurumizaka, Hitoshi and Lelieveld, Stefan and Pfundt, Rolph and Jansen, Sandra and Deriziotis, Pelagia and Faivre, Laurence and Thevenon, Julien and Assoum, Mirna and Shriberg, Lawrence and Kleefstra, Tjitske and Brunner, Han G and Wade, Paul A and Fisher, Simon E and Campeau, Philippe M and DDD study and The DDD study
Nature communications, ISSN 2041-1723, 02/2019, Volume 10, Issue 1, pp. 883 - 4
The original version of this Article contained an error in the spelling of the author Laurence Faivre, which was incorrectly given as Laurence Faive. This has... 
DNA helicase | Neurodevelopmental disorders | Mutation
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5. Full Text CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
by Snijders Blok, Lot and Rousseau, Justine and Twist, Joanna and Ehresmann, Sophie and Takaku, Motoki and Takaku, Motoki and Venselaar, Hanka and Rodan, Lance H and Rodan, Lance H and Nowak, Catherine B and Nowak, Catherine B and Douglas, Jessica and Douglas, Jessica and Swoboda, Kathryn J and Steeves, Marcie A and Sahai, Inderneel and Stumpel, Connie T. R. M and Stumpel, Connie T R M and Stegmann, Alexander P. A and Stegmann, Alexander P A and Wheeler, Patricia and Wheeler, Patricia and Willing, Marcia and Fiala, Elise and Kochhar, Aaina and Kochhar, Aaina and Gibson, William T and Gibson, William T and Cohen, Ana S. A and Cohen, Ana S A and Agbahovbe, Ruky and Agbahovbe, Ruky and Innes, A Micheil and Innes, A. Micheil and Au, P Y Billie and Au, P. Y. Billie and Rankin, Julia and Anderson, Ilse J and Anderson, Ilse J and Skinner, Steven A and Louie, Raymond J and Warren, Hannah E and Afenjar, Alexandra and Afenjar, Alexandra and Keren, Boris and Keren, Boris and Nava, Caroline and Nava, Caroline and Buratti, Julien and Isapof, Arnaud and Isapof, Arnaud and Rodriguez, Diana and Rodriguez, Diana and Lewandowski, Raymond and Propst, Jennifer and van Essen, Ton and Choi, Murim and Choi, Murim and Lee, Sangmoon and Lee, Sangmoon and Chae, Jong H and Chae, Jong H and Price, Susan and Schnur, Rhonda E and Douglas, Ganka and Wentzensen, Ingrid M and Zweier, Christiane and Zweier, Christiane and Reis, André and Reis, André and Bialer, Martin G and Bialer, Martin G and Moore, Christine and Moore, Christine and Koopmans, Marije and Brilstra, Eva H and Monroe, Glen R and van Gassen, Koen L. I and van Gassen, Koen L I and van Binsbergen, Ellen and Newbury-Ecob, Ruth and Newbury-Ecob, Ruth and Bownass, Lucy and Bownass, Lucy and Bader, Ingrid and Bader, Ingrid and Mayr, Johannes A and Wortmann, Saskia B and Wortmann, Saskia B and Jakielski, Kathy J and Jakielski, Kathy J and Strand, Edythe A and Kloth, Katja and Bierhals, Tatjana and Roberts, John D and Roberts, John D and Petrovich, Robert M and Machida, Shinichi and Machida, Shinichi and Kurumizaka, Hitoshi and ... and DDD Study and The DDD study
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 4619 - 12
Chromatin remodeling is of crucial importance during brain development. Pathogenic alterations of several chromatin remodeling ATPases have been implicated in... 
INTELLECTUAL DISABILITY | EXOME | DIAGNOSIS | CHROMATIN REMODELING COMPLEX | DE-NOVO MUTATIONS | GENE | MULTIDISCIPLINARY SCIENCES | DISORDER | DEACETYLASE COMPLEX | NURD | FAMILY | Brain | Phenotypes | Disorders | Genomes | Neurodevelopmental disorders | Remodeling | Gene sequencing | Chromatin remodeling | Proteins | DNA helicase | Alterations | Missense mutation | Language | Speech | Children | Mutation | Disruption | Three dimensional models | Adenosine triphosphatase | Genotypes | Life Sciences | Neurons and Cognition | Biochemistry, Molecular Biology | Neurobiology | Genetics | Biomolecules | Development Biology | Human genetics | Embryology and Organogenesis
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6. Full Text Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: A new genotype-phenotype correlation
by Frayling, Ian M and Mautner, Victor-Felix and Van Minkelen, Rick and Kallionpaa, Roope A and Aktas, Safiye and Baralle, Diana and Ben-Shachar, Shay and Callaway, Alison and Cox, Harriet and Eccles, Diana M and Ferkal, Salah and Laduca, Holly and Lázaro, Conxi and Rogers, Mark T and Stuenkel, Aaron J and Summerour, Pia and Varan, Ali and Yap, Yoon Sim and Zehou, Ouidad and Peltonen, Juha and Evans, D Gareth and Wolkenstein, Pierre and Upadhyaya, Meena
Journal of Medical Genetics, ISSN 0022-2593, 04/2019, Volume 56, Issue 4, pp. 209 - 219
Neurofibromatosis type 1 (NF1) predisposes to breast cancer (BC), but no genotype-phenotype correlations have been described. Constitutional mutations in 78... 
breast cancer | Brca1/2 | neurofibromatosis Type 1 | genotype-phenotype correlation | Nf1 microdeletion | SURVIVAL | WOMEN | GERMLINE | NEOPLASMS | GENETICS & HEREDITY | SPECTRUM | BENIGN-TUMORS | BRCA2 protein | Phenotypes | BRCA1 protein | Genomics | Genes | Neurofibromin 1 | Breast cancer | Recklinghausen's disease | ErbB-2 protein | Consortia | Proteins | Genotype & phenotype | Hypotheses | Missense mutation | Neurofibromatosis | Point mutation | Mutation | Age | Genotypes | Tumors
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7. Full Text Novel aspects of alternative splicing: Minireview series
by Baralle, Diana
FEBS Journal, ISSN 1742-464X, 02/2010, Volume 277, Issue 4, p. 835
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8. Full Text Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
by Gorman, Kathleen M and Meyer, Esther and Grozeva, Detelina and Spinelli, Egidio and McTague, Amy and Sanchis-Juan, Alba and Carss, Keren and Carss, Keren J and Bryant, Emily and Reich, Adi and Schneider, Amy L and Pressler, Ronit M and Simpson, Michael A and Debelle, Geoff D and Wassmer, Evangeline and Morton, Jenny and Sieciechowicz, Diana and Jan-Kamsteeg, Eric and Paciorkowski, Alex R and King, Daniel and King, Mary D and Cross, J. Helen and Cross, Gareth and Poduri, Annapurna and Mefford, Heather C and Scheffer, Ingrid E and Haack, Tobias B and McCullagh, Gary 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, Daniel M and Barrett, Jeffrey C and Bayzetinova, Tanya and Jones, Philip and Jones, Elizabeth and Jones, Wendy D 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 Bennett, David 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, John R and Bradley, Lisa and Brady, Angela and Brady, Angie 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, Guy and Coates, Andrea and Cole, Trevor and Colgiu, Irina and Collins, Amanda and Collins, Peter and Collinson, Morag N and Connell, Fiona and Cooper, Nichola and Cooper, Nicola and Cox, Tony and ... and NIHR BioResource and Deciphering Dev Disorders Study and UK10K Consortium and Deciphering Developmental Disorders Study
The American Journal of Human Genetics, ISSN 0002-9297, 05/2019, Volume 104, Issue 5, pp. 948 - 956
The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon.... 
epilepsy | CACNA1B | epilepsy-dyskinesia | developmental and epileptic encephalopathy (DEE) | ENCEPHALOPATHIES | CLASSIFICATION | DE-NOVO MUTATIONS | CALCIUM-CHANNELS | GENETICS & HEREDITY | MYOCLONUS-DYSTONIA
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