Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders
暂无分享,去创建一个
Sylvia Richardson | Augusto Rendon | Sjoert B. G. Jansen | Pawan Poudel | Wendy N Erber | Ernest Turro | Daniel Greene | Tamam Bakchoul | Kathleen Freson | Michael Gattens | Keith Gomez | Claire Lentaigne | Stuart Meacham | Paquita Nurden | Sol Schulman | Ilenia Simeoni | S. Richardson | W. Ouwehand | A. Attwood | J. Jolley | P. Robinson | A. Rendon | P. Nurden | R. Favier | J. Stephens | W. Erber | D. Perry | D. Greene | E. Turro | B. Furie | M. Laffan | S. Schulman | S. Meacham | Abigail Crisp-Hihn | Nicola S. Foad | X. Pillois | A. Mumford | R. Liesner | K. Peerlinck | K. Gomez | C. Van Geet | M. Lambert | A. Nurden | K. Freson | H. Schulze | T. Bariana | C. Lentaigne | S. Westbury | M. Gattens | A. Kelly | C. Millar | Willem H Ouwehand | Bruce Furie | S. Austin | T. Bakchoul | Peter N Robinson | Xavier Pillois | Harald Schulze | Kathelijne Peerlinck | Nicola Foad | Ri Liesner | Antony Attwood | Jonathan C Stephens | Jennifer D Jolley | Rémi Favier | Michele P. Lambert | Sarah K Westbury | Anne M Kelly | Tadbir K Bariana | Steve Austin | Sjoert BG Jansen | Abi Crisp-Hihn | Carolyn M Millar | Alan T Nurden | David J Perry | Chris van Geet | Michael A Laffan | Michele P Lambert | Andrew D Mumford | Ilenia Simeoni | Pawan Poudel | C. van Geet | Sol Schulman | Claire Lentaigne | Stuart Meacham | S. Richardson
[1] J. White,et al. Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. , 2001, American journal of human genetics.
[2] K. Freson,et al. The contribution of platelet studies to the understanding of disease mechanisms in complex and monogenetic neurological disorders , 2014, Developmental medicine and child neurology.
[3] M. DePristo,et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data , 2011, Nature Genetics.
[4] Satoru Miyano,et al. ACTN1 mutations cause congenital macrothrombocytopenia. , 2013, American journal of human genetics.
[5] P. Trouvé,et al. A Missense Mutation in the Alpha-Actinin 1 Gene (ACTN1) Is the Cause of Autosomal Dominant Macrothrombocytopenia in a Large French Family , 2013, PloS one.
[6] Damian Smedley,et al. The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data , 2014, Nucleic Acids Res..
[7] M. Ballmaier,et al. MYH9‐Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype–Phenotype Correlations , 2014, Human mutation.
[8] S. Watson,et al. University of Birmingham Evaluation of participants with suspected heritable platelet function disorders including recommendation and validation of a streamlined agonist panel , 2012 .
[9] L. O'Brien,et al. The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study. , 2007, Blood.
[10] F. Dhombres,et al. Representation of rare diseases in health information systems: The orphanet approach to serve a wide range of end users , 2012, Human mutation.
[11] Beatriz de la Iglesia,et al. Clustering Rules: A Comparison of Partitioning and Hierarchical Clustering Algorithms , 2006, J. Math. Model. Algorithms.
[12] A. F. Scott,et al. OMIM: Online Mendelian Inheritance in Man , 2002 .
[13] Gregory E. Jordan,et al. Exome sequencing identifies NBEAL2 as the causative gene for Gray Platelet Syndrome , 2011, Nature Genetics.
[14] Christopher G. Chute,et al. The National Center for Biomedical Ontology , 2012, J. Am. Medical Informatics Assoc..
[15] O. Panes,et al. High prevalence of bleeders of unknown cause among patients with inherited mucocutaneous bleeding. A prospective study of 280 patients and 299 controls. , 2007, Haematologica.
[16] Philip Resnik,et al. Semantic Similarity in a Taxonomy: An Information-Based Measure and its Application to Problems of Ambiguity in Natural Language , 1999, J. Artif. Intell. Res..
[17] H. Firth,et al. The Deciphering Developmental Disorders (DDD) study , 2011, Developmental medicine and child neurology.
[18] Paul J. Harrison,et al. Guidelines for the laboratory investigation of heritable disorders of platelet function , 2011, British journal of haematology.
[19] A. Falanga,et al. Coagulation and cancer: biological and clinical aspects , 2013, Journal of thrombosis and haemostasis : JTH.
[20] P. Noris,et al. Platelet size for distinguishing between inherited thrombocytopenias and immune thrombocytopenia: a multicentric, real life study , 2013, British journal of haematology.
[21] G. Lippi,et al. Inherited platelet disorders. , 2008, Clinica chimica acta; international journal of clinical chemistry.
[22] N. Heddle,et al. Diagnostic utility of light transmission platelet aggregometry: results from a prospective study of individuals referred for bleeding disorder assessments , 2009, Journal of thrombosis and haemostasis : JTH.
[23] Marco Seri,et al. ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization. , 2015, Blood.
[24] Richard Durbin,et al. Fast and accurate long-read alignment with Burrows–Wheeler transform , 2010, Bioinform..
[25] Sebastian Köhler,et al. Ontological phenotype standards for neurogenetics , 2012, Human mutation.
[26] C. Kratz,et al. Faculty Opinions recommendation of Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. , 2012 .
[27] P. Bauer,et al. EuroGentest guidelines for diagnostic next generation sequencing , 2014 .
[28] A. Federici. Faculty Opinions recommendation of The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study. , 2007 .
[29] Richard Durbin,et al. Sequence analysis Fast and accurate short read alignment with Burrows – Wheeler transform , 2009 .
[30] Pablo Cingolani,et al. © 2012 Landes Bioscience. Do not distribute. , 2022 .
[31] Kurt Hornik,et al. The Comprehensive R Archive Network , 2012 .
[32] P. Robinson,et al. The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease. , 2008, American journal of human genetics.
[33] G. Abecasis,et al. Detecting and estimating contamination of human DNA samples in sequencing and array-based genotype data. , 2012, American journal of human genetics.
[34] D. Perry,et al. The rare coagulation disorders – review with guidelines for management from the United Kingdom Haemophilia Centre Doctors' Organisation , 2004, Haemophilia : the official journal of the World Federation of Hemophilia.
[35] Jane S. Lucas,et al. Improving lives optimising resources: a vision for the UK Rare Disease Strategy , 2011 .
[36] A. Capucci,et al. [The BRIDGE study]. , 2016, Giornale italiano di cardiologia.
[37] A. Tosetto,et al. A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM‐1 VWD) , 2006, Journal of thrombosis and haemostasis : JTH.
[38] J. Rashbass. Online Mendelian Inheritance in Man. , 1995, Trends in genetics : TIG.