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1. Using EMBL-EBI Services via Web Interface and Programmatically via Web Services
by Madeira, Fábio and Madhusoodanan, Nandana and Lee, Joon and Tivey, Adrian R.N and Lopez, Rodrigo
Current Protocols in Bioinformatics, ISSN 1934-3396, 06/2019, Volume 66, Issue 1, p. e74
The European Bioinformatics Institute (EMBL-EBI) provides access to a wide range of core databases and analysis tools that are of key importance in... 
REST | web services | programmatic access | bioinformatics tools | bioinformatics resources | workflows | SOAP
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2. Full Text Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data
by Wright, Caroline F, Dr and Fitzgerald, Tomas W, MS and Jones, Wendy D, MBBS and Clayton, Stephen, MRes and McRae, Jeremy F, PhD and van Kogelenberg, Margriet, PhD and King, Daniel A, MD and Ambridge, Kirsty, BSc and Barrett, Daniel M, BSc and Bayzetinova, Tanya, BSc and Bevan, A Paul, PhD and Bragin, Eugene, MSc and Chatzimichali, Eleni A, PhD and Gribble, Susan, PhD and Jones, Philip, MSc and Krishnappa, Netravathi, MSc and Mason, Laura E, BSc and Miller, Ray, PhD and Morley, Katherine I, PhD and Parthiban, Vijaya, PhD and Prigmore, Elena, PhD and Rajan, Diana, MSc and Sifrim, Alejandro, PhD and Swaminathan, G Jawahar, PhD and Tivey, Adrian R, MSc and Middleton, Anna, PhD and Parker, Michael, Prof and Carter, Nigel P, PhD and Barrett, Jeffrey C, PhD and Hurles, Matthew E, PhD and FitzPatrick, David R, Prof and Firth, Helen V, DM and DDD Study and DDD study
Lancet, The, ISSN 0140-6736, 2015, Volume 385, Issue 9975, pp. 1305 - 1314
Summary Background Human genome sequencing has transformed our understanding of genomic variation and its relevance to health and disease, and is now starting... 
Internal Medicine | INTELLECTUAL DISABILITY | INCIDENTAL FINDINGS | EXOME | MEDICINE, GENERAL & INTERNAL | VARIANTS | SEQUENCE | UNIPARENTAL DISOMY | MUTATIONS | Humans | Child, Preschool | Incidental Findings | Infant | Male | Developmental Disabilities - genetics | Genome, Human - genetics | Information Dissemination | Specimen Handling | Phenotype | Adolescent | Female | Heterozygote | Genetic Variation - genetics | Genome-Wide Association Study - methods | Child | Developmental Disabilities - diagnosis | Infant, Newborn | Medical research | Analysis | Genomics | Medicine, Experimental | Genetic research | Genomes | Nucleotide sequencing | DNA sequencing | Mutation | Medical diagnosis | Genes | Developmental disabilities
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3. 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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4. Full Text The genome of the blood fluke Schistosoma mansoni
by Berriman, Matthew and Haas, Brian J and Loverde, Philip T and Wilson, R. Alan and Dillon, Gary P and Cerqueira, Gustavo C and Mashiyama, Susan T and Al-Lazikani, Bissan and Andrade, Luiza F and Ashton, Peter D and Aslett, Martin A and Bartholomeu, Daniella C and Blandin, Gaelle and Caffrey, Conor R and Coghlan, Avril and Coulson, Richard and Day, Tim A and Delcher, Art and Demarco, Ricardo and Djikeng, Appolinaire and Eyre, Tina and Gamble, John A and Ghedin, Elodie and Gu, Yong and Hertz-Fowler, Christiane and Hirai, Hirohisha and Hirai, Yuriko and Houston, Robin and Ivens, Alasdair and Johnston, David A and Lacerda, Daniela and MacEdo, Camila D and McVeigh, Paul and Ning, Zemin and Oliveira, Guilherme and Overington, John P and Parkhill, Julian and Pertea, Mihaela and Pierce, Raymond J and Protasio, Anna V and Quail, Michael A and Rajandream, Marie-Adèle and Rogers, Jane and Sajid, Mohammed and Salzberg, Steven L and Stanke, Mario and Tivey, Adrian R and White, Owen and Williams, David L and Wortman, Jennifer and Wu, Wenjie and Zamanian, Mostafa and Zerlotini, Adhemar and Fraser-Liggett, Claire M and Barrell, Barclay G and El-Sayed, Najib M
Nature, ISSN 0028-0836, 07/2009, Volume 460, Issue 7253, pp. 352 - 358
Schistosoma mansoni is responsible for the neglected tropical disease schistosomiasis that affects 210 million people in 76 countries. Here we present analysis... 
EMBRYONIC-DEVELOPMENT | TRYPANOSOMA-BRUCEI | DATABASE | GENE | MULTIDISCIPLINARY SCIENCES | PROTEIN FAMILIES | DRUG DISCOVERY | SEQUENCE | TRANSCRIPTION | RETROTRANSPOSONS | HIDDEN MARKOV MODEL | Schistosoma mansoni - drug effects | Schistosoma mansoni - physiology | Introns - genetics | Physical Chromosome Mapping | Schistosoma mansoni - embryology | Molecular Sequence Data | Exons - genetics | Schistosomiasis mansoni - drug therapy | Schistosoma mansoni - genetics | Biological Evolution | Host-Parasite Interactions - genetics | Animals | Schistosomiasis mansoni - parasitology | Genes, Helminth - genetics | Genome, Helminth - genetics | Microbial genetics | Schistosomiasis | Usage | Causes of | Genetic aspects | Research | Computational biology | Studies | Genomics | Fluorescence in situ hybridization | Artificial chromosomes | Drug therapy | Drug resistance | Tropical diseases | Worms | Life cycles
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5. Full Text The EMBL-EBI search and sequence analysis tools APIs in 2019
by Madeira, F and Park, YM and Lee, J and Buso, N and Gur, T and Madhusoodanan, N and Basutkar, P and Tivey, ARN and Potter, SC and Finn, RD and Lopez, R
NUCLEIC ACIDS RESEARCH, ISSN 0305-1048, 07/2019, Volume 47, Issue W1, pp. W636 - W641
The EMBL-EBI provides free access to popular bioinformatics sequence analysis applications as well as to a full-featured text search engine with powerful... 
DATABASE | PERFORMANCE | BIOCHEMISTRY & MOLECULAR BIOLOGY | DISCOVERY | Web Server Issue
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6. Full Text The Genome of the African Trypanosome Trypanosoma brucei
by Matthew Berriman and Elodie Ghedin and Christiane Hertz-Fowler and Gaëlle Blandin and Hubert Renauld and Daniella C. Bartholomeu and Nicola J. Lennard and Elisabet Caler and Nancy E. Hamlin and Brian Haas and Ulrike Böhme and Linda Hannick and Martin A. Aslett and Joshua Shallom and Lucio Marcello and Lihua Hou and Bill Wickstead and U. Cecilia M. Alsmark and Claire Arrowsmith and Rebecca J. Atkin and Andrew J. Barron and Frederic Bringaud and Karen Brooks and Mark Carrington and Inna Cherevach and Tracey-Jane Chillingworth and Carol Churcher and Louise N. Clark and Craig H. Corton and Ann Cronin and Rob M. Davies and Jonathon Doggett and Appolinaire Djikeng and Tamara Feldblyum and Mark C. Field and Audrey Fraser and Ian Goodhead and Zahra Hance and David Harper and Barbara R. Harris and Heidi Hauser and Jessica Hostetler and Al Ivens and Kay Jagels and David Johnson and Justin Johnson and Kristine Jones and Arnaud X. Kerhornou and Hean Koo and Natasha Larke and Scott Landfear and Christopher Larkin and Vanessa Leech and Alexandra Line and Angela Lord and Annette MacLeod and Paul J. Mooney and Sharon Moule and David M. A. Martin and Gareth W. Morgan and Karen Mungall and Halina Norbertczak and Doug Ormond and Grace Pai and Chris S. Peacock and Jeremy Peterson and Michael A. Quail and Ester Rabbinowitsch and Marie-Adele Rajandream and Chris Reitter and Steven L. Salzberg and Mandy Sanders and Seth Schobel and Sarah Sharp and Mark Simmonds and Anjana J. Simpson and Luke Tallon and C. Michael R. Turner and Andrew Tait and Adrian R. Tivey and Susan Van Aken and Danielle Walker and David Wanless and Shiliang Wang and Brian White and Owen White and Sally Whitehead and John Woodward and Jennifer Wortman and Mark D. Adams and T. Martin Embley and Keith Gull and Elisabetta Ullu and J. David Barry and Alan H. Fairlamb and Fred Opperdoes and Barclay G. Barrell and John E. Donelson and Neil Hall and Claire M. Fraser and ...
Science, ISSN 0036-8075, 7/2005, Volume 309, Issue 5733, pp. 416 - 422
African trypanosomes cause human sleeping sickness and livestock trypanosomiasis in sub-Saharan Africa. We present the sequence and analysis of the 11... 
Enzymes | Pseudogenes | Genes | Actins | Cytoskeleton | Genomes | Parasitism | Research Articles | Parasites | Metabolism | Chromosomes | ANTIGENIC VARIATION | METABOLISM | MULTIDISCIPLINARY SCIENCES | SEQUENCE | GENES | PARASITIC PROTOZOA | SLEEPING SICKNESS | DRUG TARGET | LEISHMANIA-DONOVANI | CHEMOTHERAPY | TELOMERES | Antigens, Protozoan - immunology | Genome, Protozoan | Glycosylphosphatidylinositols - biosynthesis | Glutathione - metabolism | Humans | Spermidine - analogs & derivatives | Spermidine - metabolism | Molecular Sequence Data | Genes, Protozoan | Pyrimidines - biosynthesis | Protozoan Proteins - genetics | Trypanosoma brucei brucei - chemistry | Amino Acids - metabolism | Protozoan Proteins - metabolism | Chromosomes - genetics | Recombination, Genetic | Protozoan Proteins - chemistry | Antigens, Protozoan - genetics | Cytoskeleton - chemistry | Antigens, Protozoan - chemistry | Antigenic Variation | Glutathione - analogs & derivatives | Trypanosoma brucei brucei - metabolism | Purines - metabolism | Carbohydrate Metabolism | Cytoskeleton - genetics | Ergosterol - biosynthesis | Lipid Metabolism | Trypanosoma brucei brucei - genetics | Sequence Analysis, DNA | Protein Transport | Trypanosomiasis, African - parasitology | Animals | Cytoskeleton - physiology | Trypanosoma brucei brucei - immunology | Genetic aspects | Trypanosoma | Sleep disorders | Glycoproteins | Genomics
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7. 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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