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)
Identification of common genetic risk variants for autism spectrum disorder
Jakob Grove et al.
NATURE GENETICS (2019)
Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder
Gerarda Cappuccio et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2019)
Structural basis of SALM5-induced PTP delta dimerization for synaptic differentiation
Zhaohan Lin et al.
NATURE COMMUNICATIONS (2018)
Structural basis of trans-synaptic interactions between PTPδ and SALMs for inducing synapse formation
Sakurako Goto-Ito et al.
NATURE COMMUNICATIONS (2018)
Dynamic 3D chromatin architecture contributes to enhancer specificity and limb morphogenesis
Bjort K. Kragesteen et al.
NATURE GENETICS (2018)
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia
Richard J. L. Anney et al.
MOLECULAR AUTISM (2017)
SALM5 trans-synaptically interacts with LAR-RPTPs in a splicing-dependent manner to regulate synapse development
Yeonsoo Choi et al.
SCIENTIFIC REPORTS (2016)
Genetic architecture in autism spectrum disorder
Bernie Devlin et al.
CURRENT OPINION IN GENETICS & DEVELOPMENT (2012)
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder
Jillian P. Casey et al.
HUMAN GENETICS (2012)
Selected SALM (Synaptic Adhesion-Like Molecule) Family Proteins Regulate Synapse Formation
Won Mah et al.
JOURNAL OF NEUROSCIENCE (2010)
Functional impact of global rare copy number variation in autism spectrum disorders
Dalila Pinto et al.
NATURE (2010)
Severe Progressive Autism Associated with Two de novo Changes: A 2.6-Mb 2q31.1 Deletion and a Balanced t(14;21)( q21.1; p11.2) Translocation with Long-Range Epigenetic Silencing of LRFN5 Expression
D. R. H. de Bruijn et al.
MOLECULAR SYNDROMOLOGY (2010)
Ectopic gene conversions in the human genome
David Benovoy et al.
GENOMICS (2009)
Common genetic variants on 5p14.1 associate with autism spectrum disorders
Kai Wang et al.
NATURE (2009)
The SALM family of adhesion-like molecules forms heteromeric and homomeric complexes
Gail K. Seabold et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2008)
Association between microdeletion and microduplication at 16p11.2 and autism
Lauren A. Weiss et al.
NEW ENGLAND JOURNAL OF MEDICINE (2008)
Leucine-rich repeat proteins of synapses
Jaewon Ko et al.
JOURNAL OF NEUROSCIENCE RESEARCH (2007)
A unified genetic theory for sporadic and inherited autism
Xiaoyue Zhao et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Strong association of de novo copy number mutations with autism
Jonathan Sebat et al.
SCIENCE (2007)
Comparative analysis of structure, expression and PSD95-binding capacity of Lrfn, a novel family of neuronal transmembrane proteins
Naoko Morimura et al.
GENE (2006)
SALM synaptic cell adhesion-like molecules regulate the differentiation of excitatory synapses
JW Ko et al.
NEURON (2006)
Brief report: The autism epidemic. The registered prevalence of autism in a swedish urban area
Christopher Gillberg et al.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2006)
Effects of familial risk factors and place of birth on the risk of autism: A nationwide register-based study
MB Lauritsen et al.
JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY (2005)