Related references
Note: Only part of the references are listed.A joint NCBI and EMBL-EBI transcript set for clinical genomics and research
Joannella Morales et al.
NATURE (2022)
CADD-Splice-improving genome-wide variant effect prediction using deep learning-derived splice scores
Philipp Rentzsch et al.
GENOME MEDICINE (2021)
Liprin-α-Mediated Assemblies and Their Roles in Synapse Formation
Xingqiao Xie et al.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2021)
Structural basis of liprin-α-promoted LAR-RPTP clustering for modulation of phosphatase activity
Xingqiao Xie et al.
NATURE COMMUNICATIONS (2020)
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski et al.
NATURE (2020)
Intracranial calcifications in childhood: Part 1
Fabricio Guimaraes Goncalves et al.
PEDIATRIC RADIOLOGY (2020)
Presynaptic dysfunction inCASK-related neurodevelopmental disorders
Martin Becker et al.
TRANSLATIONAL PSYCHIATRY (2020)
Genomic and phenotypic delineation of congenital microcephaly
Ranad Shaheen et al.
GENETICS IN MEDICINE (2019)
Predicting Splicing from Primary Sequence with Deep Learning
Kishore Jaganathan et al.
CELL (2019)
Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2
Christopher J. A. Duncan et al.
SCIENCE IMMUNOLOGY (2019)
Splicing mutations in human genetic disorders: examples, detection, and confirmation
Anna Abramowicz et al.
JOURNAL OF APPLIED GENETICS (2018)
Liprin-α3 controls vesicle docking and exocytosis at the active zone of hippocampal synapses
Man Yan Wong et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2018)
An open-source platform for analyzing and sharing worm-behavior data
Avelino Javer et al.
NATURE METHODS (2018)
Encephalopathies with intracranial calcification in children: clinical and genetic characterization
Davide Tonduti et al.
ORPHANET JOURNAL OF RARE DISEASES (2018)
Powerful and interpretable behavioural features for quantitative phenotyping of Caenorhabditis elegans
Avelino Javer et al.
PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES (2018)
REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants
Nilah M. Ioannidis et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
Role of Liprins in the Regulation of Tumor Cell Motility and Invasion
Sara Chiaretti et al.
CURRENT CANCER DRUG TARGETS (2016)
Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TOR CH syndrome
Marije E. C. Meuwissen et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2016)
M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity
Karthik A. Jagadeesh et al.
NATURE GENETICS (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)
Intracranial calcification in childhood: a review of aetiologies and recognizable phenotypes
John H. Livingston et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2014)
In silico prediction of splice-altering single nucleotide variants in the human genome
Xueqiu Jian et al.
NUCLEIC ACIDS RESEARCH (2014)
Liprin-α2 promotes the presynaptic recruitment and turnover of RIM1/CASK to facilitate synaptic transmission
Samantha A. Spangler et al.
JOURNAL OF CELL BIOLOGY (2013)
Liprin-α/SYD-2 determines the size of dense projections in presynaptic active zones in C. elegans
Maike Kittelmann et al.
JOURNAL OF CELL BIOLOGY (2013)
The Genotype-Tissue Expression (GTEx) project
John Lonsdale et al.
NATURE GENETICS (2013)
Function of liprins in cell motility
Ivan de Curtis
EXPERIMENTAL CELL RESEARCH (2011)
Liprin-Mediated Large Signaling Complex Organization Revealed by the Liprin-α/CASK and Liprin-α/Liprin-β Complex Structures
Zhiyi Wei et al.
MOLECULAR CELL (2011)
Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria
Mary C. O'Driscoll et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Definition of drug resistant epilepsy: Consensus proposal by the ad hoc Task Force of the ILAE Commission on Therapeutic Strategies
Patrick Kwan et al.
EPILEPSIA (2010)
Three Drosophila Liprins Interact to Control Synapse Formation
Sergio Astigarraga et al.
JOURNAL OF NEUROSCIENCE (2010)
MutationTaster evaluates disease-causing potential of sequence alterations
Jana Marie Schwarz et al.
NATURE METHODS (2010)
SAM as a protein interaction domain involved in developmental regulation
Jörg Schultz et al.
PROTEIN SCIENCE (2010)
Calcium/Calmodulin-Dependent Serine Protein Kinase and Mental Retardation
Yi-Ping Hsueh
ANNALS OF NEUROLOGY (2009)
The mouse and human Liprin-α family of scaffolding proteins: Genomic organization, expression profiling and regulation by alternative splicing
Magdalena Zuerner et al.
GENOMICS (2009)
HLB-1 functions as a new regulator for the organization and function of neuromuscular junctions in nematode Caenorhabditis elegans
Da-Yong Wang et al.
NEUROSCIENCE BULLETIN (2009)
Liprin-α proteins:: scaffold molecules for synapse maturation
S. A. Spangler et al.
BIOCHEMICAL SOCIETY TRANSACTIONS (2007)
Hierarchical assembly of presynaptic components in defined C. elegans synapses
Maulik R. Patel et al.
NATURE NEUROSCIENCE (2006)
Splicing in action: assessing disease causing sequence changes
D Baralle et al.
JOURNAL OF MEDICAL GENETICS (2005)
Epileptic-like convulsions associated with LIS-1 in the cytoskeletal control of neurotransmitter signaling in Caenorhabditis elegans
SN Williams et al.
HUMAN MOLECULAR GENETICS (2004)
Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals
G Yeo et al.
JOURNAL OF COMPUTATIONAL BIOLOGY (2004)
Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans
BP Lewis et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)
Share Paper
