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。De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay
Lisenka E. L. M. Vissers et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2020)
Developmental disorders with intellectual disability driven by chromatin dysregulation: Clinical overlaps and molecular mechanisms
L. Larizza et al.
CLINICAL GENETICS (2019)
Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features
Muhammad Ansar et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2019)
A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly
Paul Kruszka et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2019)
A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development
Elisa De Franco et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2019)
A histone acetylome-wide association study of Alzheimer's disease identifies disease-associated H3K27ac differences in the entorhinal cortex
Sarah J. Marzi et al.
NATURE NEUROSCIENCE (2018)
The HDAC-Associated Sin3B Protein Represses DREAM Complex Targets and Cooperates with APC/C to Promote Quiescence
Anthony J. Bainor et al.
CELL REPORTS (2018)
High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing
Francisco Martinez et al.
JOURNAL OF MEDICAL GENETICS (2017)
A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis
Patrick Frosk et al.
JOURNAL OF MEDICAL GENETICS (2017)
Transcribing the connectome: roles for transcription factors and chromatin regulators in activity-dependent synapse development
Liang-Fu Chen et al.
JOURNAL OF NEUROPHYSIOLOGY (2017)
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
Natalie D. Shaw et al.
NATURE GENETICS (2017)
Zebrafish sin3b mutants are viable but have size, skeletal, and locomotor defects
Cara E. Moravec et al.
DEVELOPMENTAL DYNAMICS (2017)
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features
Pawel Stankiewicz et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2017)
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
Sebastien Kury et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2017)
Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis
Sek-Shir Cheong et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
Histone Acetylome-wide Association Study of Autism Spectrum Disorder
Wenjie Sun et al.
CELL (2016)
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek et al.
NATURE (2016)
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity
Josefine S. Witteveen et al.
NATURE GENETICS (2016)
Disorders of Transcriptional Regulation: An Emerging Category of Multiple Malformation Syndromes
Kosuke Izumi
MOLECULAR SYNDROMOLOGY (2016)
Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type
Mala Isrie et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2015)
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology
Eugenia Migliavacca et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2015)
The Mendelian disorders of the epigenetic machinery
Hans Tomas Bjornsson
GENOME RESEARCH (2015)
GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene
Nara Sobreira et al.
HUMAN MUTATION (2015)
Integrative analysis of 111 reference human epigenomes
Anshul Kundaje et al.
NATURE (2015)
Haploinsufficiency of HDAC4 does not cause intellectual disability in all affected individuals
Patricia G. Wheeler et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)
The developmental transcriptome of the human brain: implications for neurodevelopmental disorders
Andrew T. N. Tebbenkamp et al.
CURRENT OPINION IN NEUROLOGY (2014)
Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus
Gea Beunders et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Sin3: Insight into its transcription regulatory functions
Rama Kadamb et al.
EUROPEAN JOURNAL OF CELL BIOLOGY (2013)
Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4
Pablo Villavicencio-Lorini et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2013)
Uniform, optimal signal processing of mapped deep-sequencing data
Vibhor Kumar et al.
NATURE BIOTECHNOLOGY (2013)
X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face
Magdalena Harakalova et al.
JOURNAL OF MEDICAL GENETICS (2012)
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle
Matthew A. Deardorff et al.
NATURE (2012)
An integrated encyclopedia of DNA elements in the human genome
Ian Dunham et al.
NATURE (2012)
Skeletogenic Fate of Zebrafish Cranial and Trunk Neural Crest
Erika Kague et al.
PLOS ONE (2012)
A de novo 1.1 Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation
Susanne Bens et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2011)
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome
Caroline Rooryck et al.
NATURE GENETICS (2011)
Split Hand-Foot Malformation, Tetralogy of Fallot, Mental Retardation and a 1 Mb 19p Deletion-Evidence for Further Heterogeneity?
Emmelien Aten et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
Histone deacetylases 1 and 2 control the progression of neural precursors to neurons during brain development
Rusty L. Montgomery et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
A Role for Mammalian Sin3 in Permanent Gene Silencing
Chris van Oevelen et al.
MOLECULAR CELL (2008)
Specific requirement of the chromatin modifier mSin3B in cell cycle exit and cellular differentiation
Gregory David et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Identification of mammalian Sds3 as an integral component of the Sin3/histone deacetylase corepressor complex
L Alland et al.
MOLECULAR AND CELLULAR BIOLOGY (2002)
Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination
KW Gripp et al.
NATURE GENETICS (2000)
分享论文
