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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 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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3. Full Text Screening of a large cohort of blepharophimosis, ptosis, and epicanthus inversus syndrome patients reveals a very strong paternal inheritance bias and a wide spectrum of novel FOXL2 mutations
by Bunyan, David J and Thomas, N. Simon
European Journal of Medical Genetics, ISSN 1769-7212, 07/2019, Volume 62, Issue 7, p. 103668
Blepharophimosis, Ptosis, and Epicanthus inversus Syndrome (BPES) is caused by autosomal dominant mutations in . There are two forms of BPES: type I (with... 
Forkhead box protein L2 | Paternal inheritance | DNA mutational analysis | SEQUENCES | GENETICS & HEREDITY | TRANSCRIPTION FACTOR FOXL2 | IDENTIFICATION | ASSOCIATION
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4. Full Text Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study
by Kempers, Marlies JE, MD and Kuiper, Roland P, PhD and Ockeloen, Charlotte W, MD and Chappuis, Pierre O, MD and Hutter, Pierre, PhD and Rahner, Nils, MD and Schackert, Hans K, Prof and Steinke, Verena, MD and Holinski-Feder, Elke, Prof and Morak, Monika, PhD and Kloor, Matthias, MD and Büttner, Reinhard, MD and Verwiel, Eugene TP, BSc and van Krieken, J Han, Prof and Nagtegaal, Iris D, MD and Goossens, Monique, BSc and van der Post, Rachel S, MD and Niessen, Renée C, PhD and Sijmons, Rolf H, MD and Kluijt, Irma, MD and Hogervorst, Frans BL, PhD and Leter, Edward M, MD and Gille, Johan JP, PhD and Aalfs, Cora M, MD and Redeker, Egbert JW, PhD and Hes, Frederik J, MD and Tops, Carli MJ, PhD and van Nesselrooij, Bernadette PM, MD and van Gijn, Marielle E, PhD and García, Encarna B Gómez, MD and Eccles, Diana M, Prof and Bunyan, David J, PhD and Syngal, Sapna, MD and Stoffel, Elena M, MD and Culver, Julie O, MSc and Palomares, Melanie R, MD and Graham, Tracy, MSc and Velsher, Lea, MD and Papp, Janos, PhD and Oláh, Edith, Prof and Chan, Tsun L, PhD and Leung, Suet Y, Prof and van Kessel, Ad Geurts, Prof and Kiemeney, Lambertus ALM, Prof and Hoogerbrugge, Nicoline, Prof and Ligtenberg, Marjolijn JL, Dr
Lancet Oncology, The, ISSN 1470-2045, 2011, Volume 12, Issue 1, pp. 49 - 55
Summary Background Lynch syndrome is caused by germline mutations in MSH2, MLH1, MSH6 , and PMS2 mismatch-repair genes and leads to a high risk of colorectal... 
Hematology, Oncology and Palliative Medicine | STEM-CELLS | METHYLATION | HYPERMETHYLATION | MANAGEMENT | MSH2 | ONCOLOGY | REPAIR GENE HMSH2 | MUTATION CARRIERS | FAMILIES | SURVEILLANCE | TACSTD1 | Antigens, Neoplasm - genetics | Promoter Regions, Genetic | Sequence Deletion | Cell Adhesion Molecules - genetics | Colorectal Neoplasms - genetics | Humans | Middle Aged | Endometrial Neoplasms - etiology | Male | Risk | MutS Homolog 2 Protein - genetics | Epithelial Cell Adhesion Molecule | Colorectal Neoplasms - etiology | Endometrial Neoplasms - genetics | Gene Deletion | Adolescent | Adult | Female | Aged | Cohort Studies | Prevention | Molecular genetics | Endometrial cancer | Gene mutations | Oncology, Experimental | Research | Universities and colleges | Biometry | Cancer
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5. Full Text Diagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5kb deletion 160kb downstream with a variable phenotypic effect
by Bunyan, David J and Baker, Kevin R and Harvey, John F and Thomas, N. Simon
American Journal of Medical Genetics, Part A, ISSN 1552-4825, 2013, Volume 161, Issue 6, pp. 1329 - 1338
Supporting information: 
SHOX | Duplications | Point mutations | Deletions | Genetic aspects | Gene mutations | Genes | Analysis | Body height
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6. Full Text Diagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effect
by Bunyan, David J and Baker, Kevin R and Harvey, John F and Thomas, N. Simon
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2013, Volume 161, Issue 6, pp. 1329 - 1338
Léri–Weill dyschondrosteosis (LWD) results from heterozygous mutations of the SHOX gene, with homozygosity or compound heterozygosity resulting in the more... 
SHOX | duplications | deletions | point mutations | LANGER MESOMELIC DYSPLASIA | ENHANCER | TURNER-SYNDROME | HAPLOINSUFFICIENCY | HETEROGENEITY | 3' REGION | MAJOR RECOMBINATION HOTSPOT | GENETICS & HEREDITY | LERI-WEILL DYSCHONDROSTEOSIS | IDIOPATHIC SHORT STATURE | GROWTH-PLATE | Sequence Deletion | Genetic Testing | Follow-Up Studies | Genetic Association Studies | Humans | Child, Preschool | Genotype | Homeodomain Proteins - genetics | Short Stature Homeobox Protein | Dwarfism - genetics | Homozygote | Phenotype | Osteochondrodysplasias - genetics | Pedigree | Base Sequence | Adolescent | Female | Heterozygote | Mutation | Growth Disorders - genetics | Child | Cohort Studies
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7. Full Text Recurrence and variability of germline EPCAM deletions in Lynch syndrome
by Kuiper, Roland P and Vissers, Lisenka E. L. M and Venkatachalam, Ramprasath and Bodmer, Danielle and Hoenselaar, Eveline and Goossens, Monique and Haufe, Aline and Kamping, Eveline and Niessen, Renée C and Hogervorst, Frans B. L and Gille, Johan J. P and Redeker, Bert and Tops, Carli M. J and van Gijn, Marielle E and van den Ouweland, Ans M. W and Rahner, Nils and Steinke, Verena and Kahl, Philip and Holinski-Feder, Elke and Morak, Monika and Kloor, Matthias and Stemmler, Susanne and Betz, Beate and Hutter, Pierre and Bunyan, David J and Syngal, Sapna and Culver, Julie O and Graham, Tracy and Chan, Tsun L and Nagtegaal, Iris D and van Krieken, J. Han J. M and Schackert, Hans K and Hoogerbrugge, Nicoline and van Kessel, Ad Geurts and Ligtenberg, Marjolijn J. L
Human mutation, ISSN 1059-7794, 2011, Volume 32, Issue 4, pp. 407 - 414
Recently, we identified 3' end deletions in the EPCAM gene as a novel cause of Lynch syndrome. These truncating EPCAM deletions cause allele-specific... 
TACSTD1 | NAHR | Alu‐mediated recombination | EPCAM | Lynch syndrome | Alu-mediated recombination | MOLECULAR CHARACTERIZATION | METHYLATION | HYPERMETHYLATION | NONPOLYPOSIS COLORECTAL-CANCER | GENOMIC DELETIONS | MLH1 | MSH2 | FREQUENT CAUSE | GENETICS & HEREDITY | MISMATCH-REPAIR GENES | EPIMUTATION | Antigens, Neoplasm - genetics | Promoter Regions, Genetic | Recurrence | Cell Adhesion Molecules - genetics | Colorectal Neoplasms, Hereditary Nonpolyposis - genetics | Molecular Sequence Data | MutS Homolog 2 Protein - genetics | Germ-Line Mutation - genetics | MutS Homolog 2 Protein - metabolism | Cell Adhesion Molecules - metabolism | Epithelial Cell Adhesion Molecule | Genetic Variation | DNA Methylation | Netherlands | Base Sequence | Antigens, Neoplasm - metabolism | Models, Genetic | Sequence Deletion - genetics
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8. 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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