论文信息 - Clinically relevant copy-number variants in exome sequencing data of patients with dystonia. - 字舞流文

Clinically relevant copy-number variants in exome sequencing data of patients with dystonia.

T. Strom | R. Jech | B. Haslinger | A. Ceballos-Baumann | B. Mollenhauer | J. Winkelmann | T. Serranová | V. Mall | C. Trenkwalder | M. Shariati | S. Boesch | I. Rektorová | M. Wagner | J. Necpál | O. Ulmanová | M. Zech | P. Havránková | R. Berutti | A. Shoeibi | I. Příhodová | V. Han | A. Sadr-Nabavi | Jana Šarláková | K. Bechyně | Sandrina Weber | A. Mosejová | Yasemin Dincer | K. Kulcsarova | J. Švantnerová | Joaquim Ribeiro Ventosa | M. Škorvánek | M. Ostrozovicova | Shahzaman Ganai | K. Kulcsárová | Miriam Ostrožovičová | Kristína Kulcsárová

[1] W. Chung,et al. Monogenic variants in dystonia: an exome-wide sequencing study , 2020, The Lancet Neurology.

[2] K. Bötzel,et al. Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities , 2020, Annals of neurology.

[3] S. South,et al. Technical standards for the interpretation and reporting of constitutional copy number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen) , 2019, Genetics in Medicine.

[4] S. Scherer,et al. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders , 2019, Genetics in Medicine.

[5] S. Holder,et al. The clinical presentation caused by truncating CHD8 variants , 2019, Clinical genetics.

[6] Andrew Collins,et al. Exome sequence read depth methods for identifying copy number changes , 2015, Briefings Bioinform..

[7] Xiaolin Zhu,et al. An Evaluation of Copy Number Variation Detection Tools from Whole‐Exome Sequencing Data , 2014, Human mutation.

[8] Todd Richmond,et al. Detection of Clinically Relevant Copy Number Variants with Whole‐Exome Sequencing , 2013, Human mutation.

[9] Nicholas W. Wood,et al. A robust model for read count data in exome sequencing experiments and implications for copy number variant calling , 2012, Bioinform..

[10] G. Peters,et al. Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single‐centre study , 2012, Developmental medicine and child neurology.

[11] L. Vissers,et al. Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders. , 2016, Genetics in medicine : official journal of the American College of Medical Genetics.

[12] A. Jauch,et al. Survival up to age 10 years in a patient with partial duplication 6q: case report and review of the literature. , 2005, Clinical dysmorphology.