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。The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski et al.
NATURE (2020)
Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome
Hiromi Aoi et al.
JOURNAL OF HUMAN GENETICS (2019)
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia
Matias Wagner et al.
NATURE COMMUNICATIONS (2019)
NLSdb-major update for database of nuclear localization signals and nuclear export signals
Michael Bernhofer et al.
NUCLEIC ACIDS RESEARCH (2018)
Prevalence and architecture of de novo mutations in developmental disorders
Jeremy F. McRae et al.
NATURE (2017)
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
Fadi F. Hamdan et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2017)
Structural Biology and Regulation of Protein Import into the Nucleus
Mary Christie et al.
JOURNAL OF MOLECULAR BIOLOGY (2016)
Genome-wide characteristics of de novo mutations in autism
Ryan K. C. Yuen et al.
NPJ GENOMIC MEDICINE (2016)
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)
GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene
Nara Sobreira et al.
HUMAN MUTATION (2015)
A general framework for estimating the relative pathogenicity of human genetic variants
Martin Kircher et al.
NATURE GENETICS (2014)
Diversity and conservation of CELF1 and CELF2 RNA and protein expression patterns during embryonic development
Y. Blech-Hermoni et al.
DEVELOPMENTAL DYNAMICS (2013)
Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity
Christina Halgren et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2012)
The importance of CELF control: molecular and biological roles of the CUG-BP, Elav-like family of RNA-binding proteins
Twishasri Dasgupta et al.
WILEY INTERDISCIPLINARY REVIEWS-RNA (2012)
Etiology of a genetically complex seizure disorder in Celf4 mutant mice
J. L. Wagnon et al.
GENES BRAIN AND BEHAVIOR (2011)
Exome sequencing supports a de novo mutational paradigm for schizophrenia
Bin Xu et al.
NATURE GENETICS (2011)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
NATURE METHODS (2010)
MutationTaster evaluates disease-causing potential of sequence alterations
Jana Marie Schwarz et al.
NATURE METHODS (2010)
Modular organization and combinatorial energetics of proline-tyrosine nuclear localization signals
Katherine E. Suel et al.
PLOS BIOLOGY (2008)
Rules for nuclear localization sequence recognition by karyopherinβ2
Brittany J. Lee et al.
CELL (2006)
Dynamic balance between activation and repression regulates pre-mRNA alternative splicing during heart development
AN Ladd et al.
DEVELOPMENTAL DYNAMICS (2005)
Multiple domains control the subcellular localization and activity of ETR-3, a regulator of nuclear and cytoplasmic RNA processing events
AN Ladd et al.
JOURNAL OF CELL SCIENCE (2004)
SIFT: predicting amino acid changes that affect protein function
PC Ng et al.
NUCLEIC ACIDS RESEARCH (2003)
Isolation and expression of Napor/CUG-BP2 in embryo development
DK Choi et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2003)