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1. Full Text Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing
by Sanchis-Juan, Alba and Stephens, Jonathan and French, Courtney E and Gleadall, Nicholas and Mégy, Karyn and Penkett, Christopher and Shamardina, Olga and Stirrups, Kathleen and Delon, Isabelle and Dewhurst, Eleanor and Dolling, Helen and Erwood, Marie and Grozeva, Detelina and Stefanucci, Luca and Arno, Gavin and Webster, Andrew R and Cole, Trevor and Austin, Topun and Branco, Ricardo Garcia and Ouwehand, Willem H and Raymond, F. Lucy and Carss, Keren J
Genome medicine, ISSN 1756-994X, 12/2018, Volume 10, Issue 1, pp. 95 - 95
CDKL5 | Next-generation sequencing | Genome sequencing | Complex structural variant | HNRNPU | Nanopore | ARID1B | CEP78 | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Epigenetic inheritance | Usage | Research | Nucleotide sequencing | Genetic variation | DNA sequencing | Breakpoints | Congenital diseases | Genomics | Inversion | Identification | Genomes | Gene expression | Gene deletion | Studies | Pathogenicity | Alleles | Chromosomes | Deoxyribonucleic acid--DNA | Index Medicus
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2. Full Text ArrayExpress update-simplifying data submissions
by Kolesnikov, Nikolay and Hastings, Emma and Keays, Maria and Melnichuk, Olga and Tang, Y. Amy and Williams, Eleanor and Dylag, Miroslaw and Kurbatova, Natalja and Brandizi, Marco and Burdett, Tony and Megy, Karyn and Pilicheva, Ekaterina and Rustici, Gabriella and Tikhonov, Andrew and Parkinson, Helen and Petryszak, Robert and Sarkans, Ugis and Brazma, Alvis
Nucleic acids research, ISSN 0305-1048, 01/2015, Volume 43, Issue 1, pp. D1113 - D1116
Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Oligonucleotide Array Sequence Analysis | Genomics | Databases, Genetic | Gene Expression Profiling | High-Throughput Nucleotide Sequencing | Software | Internet | Index Medicus | Database Issue
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3. Full Text Curated disease‐causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH
by Megy, Karyn and Downes, Kate and Simeoni, Ilenia and Bury, Loredana and Morales, Joannella and Mapeta, Rutendo and Bellissimo, Daniel B and Bray, Paul F and Goodeve, Anne C and Gresele, Paolo and Lambert, Michele and Reitsma, Pieter and Ouwehand, Willem H and Freson, Kathleen and Subcomm Genomics Thrombosis and Subcommittee on Genomics in Thrombosis and Hemostasis and the Subcommittee on Genomics in Thrombosis and Hemostasis
Journal of thrombosis and haemostasis, ISSN 1538-7933, 08/2019, Volume 17, Issue 8, pp. 1253 - 1260
Peripheral Vascular Disease | Life Sciences & Biomedicine | Hematology | Cardiovascular System & Cardiology | Science & Technology | Genes | Index Medicus | Recommendations and Guidelines
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4. Full Text Expression Atlas update - A database of gene and transcript expression from microarray- and sequencing-based functional genomics experiments
by Petryszak, Robert and Burdett, Tony and Fiorelli, Benedetto and Fonseca, Nuno A and Gonzalez-Porta, Mar and Hastings, Emma and Huber, Wolfgang and Jupp, Simon and Keays, Maria and Kryvych, Nataliya and McMurry, Julie and Marioni, John C and Malone, James and Megy, Karine and Rustici, Gabriella and Tang, Amy Y and Taubert, Jan and Williams, Eleanor and Mannion, Oliver and Parkinson, Helen E and Brazma, Alvis
Nucleic acids research, ISSN 0305-1048, 01/2014, Volume 42, Issue 1, pp. D926 - D932
Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Proteins - genetics | Proteins - metabolism | Sequence Analysis, RNA | Oligonucleotide Array Sequence Analysis | Genomics | Humans | RNA Isoforms - metabolism | Databases, Genetic | Gene Expression Profiling | Internet | Index Medicus | V. Human genome, model organisms, comparative genomics
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5. Full Text The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease
by Astle, William J and Elding, Heather and Jiang, Tao and Allen, Dave and Ruklisa, Dace and Mann, Alice L and Mead, Daniel and Bouman, Heleen and Riveros-Mckay, Fernando and Kostadima, Myrto A and Lambourne, John J and Sivapalaratnam, Suthesh and Downes, Kate and Kundu, Kousik and Bomba, Lorenzo and Berentsen, Kim and Bradley, John R and Daugherty, Louise C and Delaneau, Olivier and Freson, Kathleen and Garner, Stephen F and Grassi, Luigi and Guerrero, Jose and Haimel, Matthias and Janssen-Megens, Eva M and Kaan, Anita and Kamat, Mihir and Kim, Bowon and Mandoli, Amit and Marchini, Jonathan and Martens, Joost H.A and Meacham, Stuart and Megy, Karyn and O’Connell, Jared and Petersen, Romina and Sharifi, Nilofar and Sheard, Simon M and Staley, James R and Tuna, Salih and van der Ent, Martijn and Walter, Klaudia and Wang, Shuang-Yin and Wheeler, Eleanor and Wilder, Steven P and Iotchkova, Valentina and Moore, Carmel and Sambrook, Jennifer and Stunnenberg, Hendrik G and Di Angelantonio, Emanuele and Kaptoge, Stephen and Kuijpers, Taco W and Carrillo-de-Santa-Pau, Enrique and Juan, David and Rico, Daniel and Valencia, Alfonso and Chen, Lu and Ge, Bing and Vasquez, Louella and Kwan, Tony and Garrido-Martín, Diego and Watt, Stephen and Yang, Ying and Guigo, Roderic and Beck, Stephan and Paul, Dirk S and Pastinen, Tomi and Bujold, David and Bourque, Guillaume and Frontini, Mattia and Danesh, John and Roberts, David J and Ouwehand, Willem H and Butterworth, Adam S and Soranzo, Nicole
Cell (Cambridge), ISSN 0092-8674, 11/2016, Volume 167, Issue 5, pp. 1415 - 1429.e19
autoimmune diseases | hematology | hematopoiesis | genetics | complex disease | Mendelian randomization | cardiovascular diseases | blood | epigenetics | Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | European Continental Ancestry Group - genetics | Genetic Predisposition to Disease | Genome-Wide Association Study | Immune System Diseases - genetics | Humans | Hematopoietic Stem Cells - pathology | Hematopoietic Stem Cells - metabolism | Genetic Variation | Alleles | Cell Differentiation | Polymorphism, Single Nucleotide | Quantitative Trait Loci | Immune System Diseases - pathology | Index Medicus | Hematology | Hematopoiesis | Epigenetics | Genetics | Complex disease | Autoimmune diseases | Cardiovascular diseases | Blood | Resource
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6. Full Text Next‐generation sequencing for the diagnosis of MYH9‐RD: Predicting pathogenic variants
by Bury, Loredana and Megy, Karyn and Stephens, Jonathan C and Grassi, Luigi and Greene, Daniel and Gleadall, Nick and Althaus, Karina and Allsup, David and Bariana, Tadbir K and Bonduel, Mariana and Butta, Nora V and Collins, Peter and Curry, Nicola and Deevi, Sri V. V and Downes, Kate and Duarte, Daniel and Elliott, Kim and Falcinelli, Emanuela and Furie, Bruce and Keeling, David and Lambert, Michele P and Linger, Rachel and Mangles, Sarah and Mapeta, Rutendo and Millar, Carolyn M and Penkett, Christopher and Perry, David J and Stirrups, Kathleen E and Turro, Ernest and Westbury, Sarah K and Wu, John and BioResource, NIHR and Gomez, Keith and Freson, Kathleen and Ouwehand, Willem H and Gresele, Paolo and Simeoni, Ilenia and NIHR BioResource
Human mutation, ISSN 1059-7794, 01/2020, Volume 41, Issue 1, pp. 277 - 290
clinical diagnosis | variant classification | genomics | high throughput sequencing | ACMG guidelines | MYH9‐related disorders | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Thrombocytopenia | Genetic variance | Liver diseases | Next-generation sequencing | Inclusion bodies | Renal failure | Leukocytes | Clinical medicine | Diagnosis | Platelets | Bleeding | Hearing loss | Index Medicus
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7. Full Text Comprehensive Description of Monoallelic GP1BA Variants Associated with Thrombocytopenia
by Peck, Rachel C and Westbury, Sarah and Fitzgibbon, Lucy and Morgan, Neil V and Rivera, Jose and Kahr, Walter H and BioResource, Nihr and Megy, Karyn and Downes, Kate and Greene, Daniel and Turro, Ernest and Mumford, Andrew David
Blood, ISSN 0006-4971, 11/2020, Volume 136, Issue Supplement 1, pp. 34 - 35
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8. Full Text Transcriptomic analysis of insecticide resistance in the lymphatic filariasis vector Culex quinquefasciatus
by Silva Martins, Walter Fabricio and Wilding, Craig Stephen and Isaacs, Alison Taylor and Rippon, Emily Joy and Megy, Karine and Donnelly, Martin James
Scientific reports, 08/2019, Volume 9, Issue 1, p. 11406
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9. Full Text Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders
by Downes, Kate and Megy, Karyn and Duarte, Daniel and Vries, Minka and Gebhart, Johanna and Hofer, Stefanie and Shamardina, Olga and Deevi, Sri V. V and Stephens, Jonathan and Mapeta, Rutendo and Tuna, Salih and Al Hasso, Namir and Besser, Martin W and Cooper, Nichola and Daugherty, Louise and Gleadall, Nick and Greene, Daniel and Haimel, Matthias and Martin, Howard and Papadia, Sofia and Revel-Vilk, Shoshana and Sivapalaratnam, Suthesh and Symington, Emily and Thomas, Will and Thys, Chantal and Tolios, Alexander and Penkett, Christopher J and Ouwehand, Willem H and Abbs, Stephen and Laffan, Michael A and Turro, Ernest and Simeoni, Ilenia and Mumford, Anew D and Henskens, Yvonne M. C and Pabinger, Ingrid and Gomez, Keith and Freson, Kathleen and Nihr BioResource and NIHR BioResource
Blood, ISSN 0006-4971, 12/2019, Volume 134, Issue 23, pp. 2082 - 2091
BIOBANK | DYSFUNCTION | VARIANTS | GENETIC DIAGNOSIS | INHERITED THROMBOCYTOPENIA | MUTATION | Life Sciences & Biomedicine | Hematology | Science & Technology | Blood Platelet Disorders - genetics | Hemorrhage - genetics | Humans | Female | Hemostasis - genetics | Male | Thrombosis - genetics | Gene Dosage | High-Throughput Nucleotide Sequencing | Blood Platelet Disorders - diagnosis | Hemorrhage - diagnosis | Thrombosis - diagnosis | Index Medicus | Abridged Index Medicus | Thrombosis and Hemostasis | 101
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10. Full Text How common are single gene mutations as a cause for lacunar stroke?: A targeted gene panel study
by Tan, Rhea Y.Y and Traylor, Matthew and Megy, Karyn and Duarte, Daniel and Deevi, Sri V.V and Shamardina, Olga and Mapeta, Rutendo P and Ouwehand, Willem H and Gräf, Stefan and Downes, Kate and Markus, Hugh S and NIHR BioResource Rare Dis and NIHR BioResource: Rare Diseases Consortium
Neurology, ISSN 0028-3878, 11/2019, Volume 93, Issue 22, pp. e2007 - e2020
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Cerebral Small Vessel Diseases - genetics | Humans | Middle Aged | Stroke, Lacunar - genetics | Male | CADASIL - genetics | Cerebral Amyloid Angiopathy, Familial - genetics | Age of Onset | Female | Aged | Connective Tissue Diseases - genetics | High-Throughput Nucleotide Sequencing | Migraine with Aura - genetics | Mutation | Index Medicus | Abridged Index Medicus
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11. Full Text Germline mutations in the transcription factor IKZF5 cause thrombocytopenia
by Lentaigne, Claire and Greene, Daniel and Sivapalaratnam, Suthesh and Favier, Remi and Seyres, Denis and Thys, Chantal and Grassi, Luigi and Mangles, Sarah and Sibson, Keith and Stubbs, Matthew and Burden, Frances and Bordet, Jean-Claude and Armari-Alla, Corinne and Erber, Wendy and Farrow, Samantha and Gleadall, Nicholas and Gomez, Keith and Megy, Karyn and Papadia, Sofia and Penkett, Christopher J and Sims, Matthew C and Stefanucci, Luca and Stephens, Jonathan C and Read, Randy J and Stirrups, Kathleen E and Ouwehand, Willem H and Laffan, Michael A and Frontini, Mattia and Freson, Kathleen and Turro, Ernest and NIHR BioResource
Blood, ISSN 0006-4971, 12/2019, Volume 134, Issue 23, pp. 2070 - 2081
Life Sciences & Biomedicine | Hematology | Science & Technology | Chromatin - ultrastructure | Chromatin - metabolism | Humans | Gene Expression Regulation | Genetic Diseases, Inborn - genetics | Male | Genetic Diseases, Inborn - pathology | Mutation, Missense | Thrombocytopenia - pathology | Thrombocytopenia - metabolism | Ikaros Transcription Factor - genetics | Thrombocytopenia - genetics | Thrombopoiesis - genetics | Cytoplasmic Granules - ultrastructure | Blood Platelets - metabolism | Blood Platelets - ultrastructure | Cytoplasmic Granules - metabolism | Cytoplasmic Granules - genetics | HEK293 Cells | Germ-Line Mutation | Female | Genetic Diseases, Inborn - metabolism | Ikaros Transcription Factor - metabolism | Chromatin - genetics | Index Medicus | Abridged Index Medicus
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