The updated beta-spectrin mutations in patients with hereditary spherocytosis by targeted next-generation sequencing

[1]  Xiao-jing Xie,et al.  A clinical and experimental study of adult hereditary spherocytosis in the Chinese population , 2020, The Kaohsiung journal of medical sciences.

[2]  K. Ru,et al.  Identification of new mutations in patients with hereditary spherocytosis by next-generation sequencing , 2020, Journal of Human Genetics.

[3]  B. van der Zwaag,et al.  The Complexity of Genotype-Phenotype Correlations in Hereditary Spherocytosis: A Cohort of 95 Patients , 2019, HemaSphere.

[4]  David G. Knowles,et al.  Predicting Splicing from Primary Sequence with Deep Learning , 2019, Cell.

[5]  P. Charoenkwan,et al.  Novel mutations in SPTA1 and SPTB identified by whole exome sequencing in eight Thai families with hereditary pyropoikilocytosis presenting with severe fetal and neonatal anaemia , 2018, British journal of haematology.

[6]  Y. Yang,et al.  37例遗传性球形细胞增多症基因突变特征分析 , 2018, Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi.

[7]  Jia Huang,et al.  Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis , 2018, Science China Life Sciences.

[8]  Yonggoo Kim,et al.  Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis , 2016, Clinical genetics.

[9]  Marcel Martin Cutadapt removes adapter sequences from high-throughput sequencing reads , 2011 .

[10]  M. DePristo,et al.  The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. , 2010, Genome research.

[11]  H. Hakonarson,et al.  ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data , 2010, Nucleic acids research.

[12]  Sayeeda Huq,et al.  Hereditary Spherocytosis , 2010, Journal of health, population, and nutrition.

[13]  Richard Durbin,et al.  Sequence analysis Fast and accurate short read alignment with Burrows – Wheeler transform , 2009 .

[14]  S. Perrotta,et al.  Hereditary spherocytosis , 2008, The Lancet.

[15]  R. Stevens,et al.  Guidelines for the diagnosis and management of hereditary spherocytosis , 2004, British journal of haematology.

[16]  B. Forget,et al.  Hematologically important mutations: spectrin and ankyrin variants in hereditary spherocytosis. , 1998, Blood cells, molecules & diseases.

[17]  P. Maillet,et al.  Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis , 1996, Human mutation.