Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies
暂无分享,去创建一个
Asan | Huanming Yang | Jian Wang | Hui Jiang | Zhiyu Peng | Yaping Yang | B. Zilfalil | Wanjun Zhou | Tizhen Yan | Decheng Cai | Haorong Lu | Ye Yin | M. Qi | Mao Mao | Shanhuo Yan | Yuehong Zhou | Yan Chen | W. Cai | Yuhua Ye | Xiangmin Xu | Xuelian Zhang | H. Ding | X. Shang | Shaoke Chen | Jing He | Huajie Huang | R. Cai | Ya-jun Chen | Shuodan Huang | Qiang Zhang | F. Xiong | Liu-song Wu | B. Zhu | Xin-hua Zhang | Fengyu Guo | Qiang Zhang | Xiaoling Guo | Yun Li | Sheng He | Junfu Guo | Li Zhang | Qianqian Zhang | Chonglin Zhang | Yanhui Liu | Na Liu | Xiao-feng Wei | Biyan Chen | X. Fan | Xiaolin Yin | Fei Zhu | Yu-Qiu Zhou | Wan Khairunnisa Wan Juhari | Yuan Yuan | Sarifah Hanafi | Sumin Zhao | Zhiming Li | Yijia Zhang | Dongai Huang | Xiao-feng Wei | Xiao-feng Wei | W. Juhari
[1] K. Ye,et al. Next-generation sequencing improves thalassemia carrier screening among premarital adults in a high prevalence population: the Dai nationality, China , 2017, Genetics in Medicine.
[2] R. Wapner,et al. Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening , 2016 .
[3] A. Perkins,et al. Krüppeling erythropoiesis: an unexpected broad spectrum of human red blood cell disorders due to KLF1 variants. , 2016, Blood.
[4] Clara Gaff,et al. Patient safety in genomic medicine: an exploratory study , 2016, Genetics in Medicine.
[5] P. Moi,et al. A genetic score for the prediction of beta-thalassemia severity , 2015, Haematologica.
[6] M. Weiss,et al. Anemia: progress in molecular mechanisms and therapies , 2015, Nature Medicine.
[7] J. Traeger-Synodinos,et al. EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies , 2014, European Journal of Human Genetics.
[8] Bale,et al. Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.
[9] Åsa K. Björklund,et al. Tn5 transposase and tagmentation procedures for massively scaled sequencing projects , 2014, Genome research.
[10] D. Weatherall,et al. The α-thalassemias. , 2014, The New England journal of medicine.
[11] Tizhen Yan,et al. KLF1 mutations are relatively more common in a thalassemia endemic region and ameliorate the severity of β-thalassemia. , 2014, Blood.
[12] D. G. MacArthur,et al. Guidelines for investigating causality of sequence variants in human disease , 2014, Nature.
[13] Niru Chennagiri,et al. Validation for clinical use of, and initial clinical experience with, a novel approach to population-based carrier screening using high-throughput, next-generation DNA sequencing. , 2014, The Journal of molecular diagnostics : JMD.
[14] Marcia M. Nizzari,et al. Next-generation carrier screening , 2013, Genetics in Medicine.
[15] S. Thein. Genetic association studies in β-hemoglobinopathies. , 2013, Hematology. American Society of Hematology. Education Program.
[16] Magalie S Leduc,et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. , 2013, The New England journal of medicine.
[17] V. Marx. Biology: The big challenges of big data , 2013, Nature.
[18] E. Vichinsky. Clinical manifestations of α-thalassemia. , 2013, Cold Spring Harbor Perspectives in Medicine.
[19] Heidi L Rehm,et al. New approaches to molecular diagnosis. , 2013, JAMA.
[20] Jessica X Chong,et al. A population-based study of autosomal-recessive disease-causing mutations in a founder population. , 2012, American journal of human genetics.
[21] D. Weatherall,et al. World distribution, population genetics, and health burden of the hemoglobinopathies. , 2012, Cold Spring Harbor perspectives in medicine.
[22] Philippe Joly,et al. Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach , 2011, Nature Genetics.
[23] E. Vichinsky,et al. Heterogeneity of hemoglobin H disease in childhood. , 2011, The New England journal of medicine.
[24] Andrew C. Adey,et al. Rapid, low-input, low-bias construction of shotgun fragment libraries by high-density in vitro transposition , 2010, Genome Biology.
[25] Maxine Sun,et al. Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China , 2010, Clinical genetics.
[26] D. Weatherall,et al. The importance of micromapping the gene frequencies for the common inherited disorders of haemoglobin , 2010, British journal of haematology.
[27] B. Pégourié,et al. Complications and treatment of patients with β-thalassemia in France: results of the National Registry , 2010, Haematologica.
[28] Serena Sanna,et al. Amelioration of Sardinian beta0 thalassemia by genetic modifiers. , 2009, Blood.
[29] D. Weatherall,et al. Disorders of Hemoglobin: THE MOLECULAR, CELLULAR, AND GENETIC BASIS OF HEMOGLOBIN DISORDERS , 2009 .
[30] W. Grody,et al. ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007 , 2008, Genetics in Medicine.
[31] S. Pocock,et al. The Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement: guidelines for reporting observational studies. , 2007, Preventive medicine.
[32] S. Pocock,et al. The Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement: guidelines for reporting observational studies , 2007, The Lancet.
[33] W. Miller,et al. HbVar database for human hemoglobin variants and thalassemia mutations , 2007 .
[34] M. Petrou,et al. Screening extended families for genetic hemoglobin disorders in Pakistan. , 2002, The New England journal of medicine.
[35] T. Somervaille. Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management , 2001 .
[36] P. Vyas,et al. The α‐Thalassemias , 1990, Annals of the New York Academy of Sciences.
[37] D. Loukopoulos,et al. Prevention of thalassemia. , 1983, Schweizerische medizinische Wochenschrift.
[38] S. Orkin. The alpha thalassemias. , 1980, Texas reports on biology and medicine.