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。Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico
Alicia Scocchia et al.
NPJ GENOMIC MEDICINE (2019)
Noradrenergic signaling in the wakeful state inhibits microglial surveillance and synaptic plasticity in the mouse visual cortex
Rianne D. Stowell et al.
NATURE NEUROSCIENCE (2019)
A map of constrained coding regions in the human genome
James M. Havrilla et al.
NATURE GENETICS (2019)
CADD: predicting the deleteriousness of variants throughout the human genome
Philipp Rentzsch et al.
NUCLEIC ACIDS RESEARCH (2019)
L-type Ca2+ channels and charybdotoxin-sensitive Ca2+-activated K+ channels are required for reduction of GABAergic activity induced by β2-adrenoceptor in the prefrontal cortex
Wei-Ke Deng et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (2019)
Predicting the clinical impact of human mutation with deep neural networks
Laksshman Sundaram et al.
NATURE GENETICS (2018)
β-Arrestin2 Couples Metabotropic Glutamate Receptor 5 to Neuronal Protein Synthesis and Is a Potential Target to Treat Fragile X
Laura J. Stoppel et al.
CELL REPORTS (2017)
Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes
Stefan H. Lelieveld et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2017)
Multidimensional Tracking of GPCR Signaling via Peroxidase-Catalyzed Proximity Labeling
Jaeho Paek et al.
CELL (2017)
REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants
Nilah M. Ioannidis et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
Lmbrd1 expression is essential for the initiation of gastrulation
Insa Buers et al.
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE (2016)
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek et al.
NATURE (2016)
Astrocytic β2-adrenergic receptors mediate hippocampal long-term memory consolidation
Virginia Gao et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2016)
GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene
Nara Sobreira et al.
HUMAN MUTATION (2015)
DANN: a deep learning approach for annotating the pathogenicity of genetic variants
Daniel Quang et al.
BIOINFORMATICS (2015)
A framework for the interpretation of de novo mutation in human disease
Kaitlin E. Samocha et al.
NATURE GENETICS (2014)
Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism
Frank Rutsch et al.
NATURE GENETICS (2009)
Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly
LA Lettice et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
Predicting transmembrane protein topology with a hidden Markov model: Application to complete genomes
A Krogh et al.
JOURNAL OF MOLECULAR BIOLOGY (2001)
分享论文
