Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV.
暂无分享,去创建一个
Bradley P. Coe | B. Coe | C. Baker | E. Eichler | D. Nickerson | R. Bernier | X. Nuttle | M. Duyzend | Carl A. Baker | Michael H. Duyzend
[1] Christopher S. Poultney,et al. Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci , 2015, Neuron.
[2] Bradley P. Coe,et al. Global diversity, population stratification, and selection of human copy-number variation , 2015, Science.
[3] Emily K. Tsang,et al. The landscape of genomic imprinting across diverse adult human tissues , 2015, Genome research.
[4] Tom R. Gaunt,et al. Copy number variations and cognitive phenotypes in unselected populations. , 2015, JAMA.
[5] Raphael Bernier,et al. The Cognitive and Behavioral Phenotype of the 16p11.2 Deletion in a Clinically Ascertained Population , 2015, Biological Psychiatry.
[6] Kali T. Witherspoon,et al. Excess of rare, inherited truncating mutations in autism , 2015, Nature Genetics.
[7] David W. Evans,et al. The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions. , 2015, JAMA psychiatry.
[8] J. Lupski,et al. TBX6 null variants and a common hypomorphic allele in congenital scoliosis. , 2015, The New England journal of medicine.
[9] N Hadjikhani,et al. The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity , 2014, Molecular Psychiatry.
[10] C. Gieger,et al. 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy. , 2014, Human molecular genetics.
[11] Boris Yamrom,et al. The contribution of de novo coding mutations to autism spectrum disorder , 2014, Nature.
[12] Christopher S. Poultney,et al. Synaptic, transcriptional, and chromatin genes disrupted in autism , 2014, Nature.
[13] Kali T. Witherspoon,et al. Refining analyses of copy number variation identifies specific genes associated with developmental delay , 2014, Nature Genetics.
[14] Abraham Z. Snyder,et al. Opposing Brain Differences in 16p11.2 Deletion and Duplication Carriers , 2014, The Journal of Neuroscience.
[15] Sven Bergmann,et al. A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders. , 2014, American journal of human genetics.
[16] Evan E. Eichler,et al. A Genotype-First Approach to Defining the Subtypes of a Complex Disease , 2014, Cell.
[17] John O. Willis,et al. Wechsler Abbreviated Scale of Intelligence , 2014 .
[18] M. Pirinen,et al. Common variant at 16p11.2 conferring risk of psychosis , 2014, Molecular Psychiatry.
[19] M. Jarvelin,et al. Deletion of TOP3β, a component of FMRP-containing mRNPs, contributes to neurodevelopmental disorders , 2013, Nature Neuroscience.
[20] Grant W. Brown,et al. Top3β is an RNA topoisomerase that works with Fragile X syndrome protein to promote synapse formation , 2013, Nature Neuroscience.
[21] A. Auton,et al. Digitalcommons@shu Speech-language Pathology Faculty Publications Speech-language Pathology Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and Digeorge Syndromes , 2022 .
[22] Bradley P. Coe,et al. Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders , 2012, Science.
[23] Kenny Q. Ye,et al. An integrated map of genetic variation from 1,092 human genomes , 2012, Nature.
[24] Donna M. Martin,et al. Phenotypic heterogeneity of genomic disorders and rare copy-number variants. , 2012, The New England journal of medicine.
[25] Allison G. Dempsey,et al. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders , 2012, Journal of Medical Genetics.
[26] Stephen R. Quake,et al. Genome-wide Single-Cell Analysis of Recombination Activity and De Novo Mutation Rates in Human Sperm , 2012, Cell.
[27] Kenny Q. Ye,et al. De Novo Gene Disruptions in Children on the Autistic Spectrum , 2012, Neuron.
[28] The Simons,et al. Simons Variation in Individuals Project (Simons VIP): A Genetics-First Approach to Studying Autism Spectrum and Related Neurodevelopmental Disorders , 2012, Neuron.
[29] Bradley P. Coe,et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations , 2012, Nature.
[30] Carlos S. Moreno,et al. Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes , 2011, PLoS genetics.
[31] P. Elliott,et al. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus , 2011, Nature.
[32] L. Vissers,et al. De novo copy number variants associated with intellectual disability have a paternal origin and age bias , 2011, Journal of Medical Genetics.
[33] Zhen-Ge Luo,et al. Lgl1 activation of rab10 promotes axonal membrane trafficking underlying neuronal polarization. , 2011, Developmental cell.
[34] Swaroop Aradhya,et al. An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities , 2011, Genetics in Medicine.
[35] Gregory M. Cooper,et al. A Copy Number Variation Morbidity Map of Developmental Delay , 2011, Nature Genetics.
[36] Kathryn Roeder,et al. Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism , 2011, Neuron.
[37] Josyf Mychaleckyj,et al. Robust relationship inference in genome-wide association studies , 2010, Bioinform..
[38] A. Gylfason,et al. Fine-scale recombination rate differences between sexes, populations and individuals , 2010, Nature.
[39] E. Eichler,et al. Phenotypic variability and genetic susceptibility to genomic disorders. , 2010, Human molecular genetics.
[40] Deborah L. Levy,et al. A recurrent 16p12.1 microdeletion suggests a two-hit model for severe developmental delay , 2010, Nature Genetics.
[41] D. Segal. Diagnostic and Statistical Manual of Mental Disorders (DSM-IV-TR) , 2010 .
[42] Daniel F. Gudbjartsson,et al. Parental origin of sequence variants associated with complex diseases , 2009, Nature.
[43] P. Stankiewicz,et al. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size , 2009, Journal of Medical Genetics.
[44] J. Rosenfeld,et al. Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications , 2009, Journal of Neurodevelopmental Disorders.
[45] Jessica R. Wolff,et al. Microduplications of 16p11.2 are Associated with Schizophrenia , 2009, Nature Genetics.
[46] Robert T. Schultz,et al. Common genetic variants on 5p14.1 associate with autism spectrum disorders , 2009, Nature.
[47] Ronald V. Schmelzer,et al. Differential Abilities Scales , 2008 .
[48] John O. Willis,et al. Mullen Scales of Early Learning: Ags Edition , 2008 .
[49] Joshua M. Korn,et al. Association between microdeletion and microduplication at 16p11.2 and autism. , 2008, The New England journal of medicine.
[50] D. Conrad,et al. Recurrent 16p11.2 microdeletions in autism. , 2007, Human molecular genetics.
[51] K. Mossman. The Wellcome Trust Case Control Consortium, U.K. , 2008 .
[52] I. Kanazawa,et al. Genetic association of CTNNA3 with late-onset Alzheimer's disease in females. , 2007, Human molecular genetics.
[53] A. Hartemink,et al. Computational and experimental identification of novel human imprinted genes. , 2007, Genome research.
[54] B. Browning,et al. Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering. , 2007, American journal of human genetics.
[55] B. Coe,et al. Resolving the resolution of array CGH. , 2007, Genomics.
[56] M. Hubert,et al. A Robust Measure of Skewness , 2004 .
[57] T. Noda,et al. Apollon ubiquitinates SMAC and caspase-9, and has an essential cytoprotection function , 2004, Nature Cell Biology.
[58] M. Dorschner,et al. Recombination hotspot in NF1 microdeletion patients. , 2001, Human molecular genetics.
[59] S. Bradley-Johnson. Mullen Scales of Early Learning , 1997 .