相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling
Yuh-Charn Lin et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2021)
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center
Theresa Brunet et al.
CLINICAL GENETICS (2021)
Specific Cognitive Changes due to Hippocalcin Alterations? A Novel Familial Homozygous Hippocalcin Variant Associated with Inherited Dystonia and Altered Cognition
Sandy Siegert et al.
NEUROPEDIATRICS (2021)
The importance of genetic testing for dystonia patients and translational research
Jelena Pozojevic et al.
JOURNAL OF NEURAL TRANSMISSION (2021)
The Genetic Landscape of Parkinsonism-Related Dystonias and Atypical Parkinsonism-Related Syndromes
Monica Diez-Fairen et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski et al.
NATURE (2020)
Monogenic variants in dystonia: an exome-wide sequencing study
Michael Zech et al.
LANCET NEUROLOGY (2020)
Delineating the phenotype of autosomal-recessive HPCA mutations: Not only isolated dystonia!
Bettina Balint et al.
MOVEMENT DISORDERS (2019)
Iranome: A catalog of genomic variations in the Iranian population
Zohreh Fattahi et al.
HUMAN MUTATION (2019)
The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients
Philip J. Ostrowski et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2019)
The relevance of gene panels in movement disorders diagnosis: A lab perspective
Chiara Reale et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2018)
HPCA Confirmed as a Genetic Cause of DYT2-Like Dystonia Phenotype
Burcu Atasu et al.
MOVEMENT DISORDERS (2018)
Dystonia
Bettina Balint et al.
NATURE REVIEWS DISEASE PRIMERS (2018)
Deep brain stimulation for dystonia: a novel perspective on the value of genetic testing
H. A. Jinnah et al.
JOURNAL OF NEURAL TRANSMISSION (2017)
Needs and Requirements of Modern Biobanks on the Example of Dystonia Syndromes
Ebba Lohmann et al.
FRONTIERS IN NEUROLOGY (2017)
ClinVar: public archive of interpretations of clinically relevant variants
Melissa J. Landrum et al.
NUCLEIC ACIDS RESEARCH (2016)
PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family
Marialuisa Quadri et al.
MOVEMENT DISORDERS (2016)
HPCA-related dystonia: Too rare to be found?
Valerija Dobricic et al.
MOVEMENT DISORDERS (2016)
The Ensembl Variant Effect Predictor
William McLaren et al.
GENOME BIOLOGY (2016)
Mutations in HPCA Cause Autosomal-Recessive Primary Isolated Dystonia
Gavin Charlesworth et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2015)
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
Sue Richards et al.
GENETICS IN MEDICINE (2015)
DYT16 Revisited: Exome Sequencing Identifies PRKRA Mutations in a European Dystonia Family
Michael Zech et al.
MOVEMENT DISORDERS (2014)
A general framework for estimating the relative pathogenicity of human genetic variants
Martin Kircher et al.
NATURE GENETICS (2014)
Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega
Fabian Sievers et al.
MOLECULAR SYSTEMS BIOLOGY (2011)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
NATURE METHODS (2010)
DYT16, a novel young-onset dystonia-parkinson ism disorder:: identification of a segregating mutation in the stress-response protein PRKRA
Sarah Camargos et al.
LANCET NEUROLOGY (2008)
Predicting deleterious amino acid substitutions
PC Ng et al.
GENOME RESEARCH (2001)
分享论文
