Prevalence and architecture of de novo mutations in developmental disorders

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[1]  R. Pfundt,et al.  Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature , 2016, European Journal of Human Genetics.

[2]  Tomas W. Fitzgerald,et al.  Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing , 2016, Nature Genetics.

[3]  L. Vissers,et al.  Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability , 2016, Nature Neuroscience.

[4]  Sharyn A. Lincoln,et al.  De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features , 2016, Human Genetics.

[5]  J. Vockley,et al.  New observations on maternal age effect on germline de novo mutations , 2016, Nature Communications.

[6]  Arthur Wuster,et al.  Timing, rates and spectra of human germline mutation , 2015, Nature Genetics.

[7]  James Y. Zou Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.

[8]  Morad Ansari,et al.  Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families , 2015, Nature Genetics.

[9]  M. Thoma,et al.  Interpregnancy Intervals in the United States: Data From the Birth Certificate and the National Survey of Family Growth. , 2015, National vital statistics reports : from the Centers for Disease Control and Prevention, National Center for Health Statistics, National Vital Statistics System.

[10]  Alejandro Sifrim,et al.  Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data , 2015, The Lancet.

[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]  Epilepsy Phenome,et al.  De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. , 2014, American journal of human genetics.

[14]  Stephan J Sanders,et al.  A framework for the interpretation of de novo mutation in human disease , 2014, Nature Genetics.

[15]  Alison M. Meynert,et al.  Variant detection sensitivity and biases in whole genome and exome sequencing , 2014, BMC Bioinformatics.

[16]  Andrew Zisserman,et al.  Diagnostically relevant facial gestalt information from ordinary photos , 2014, eLife.

[17]  E. Haan,et al.  Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth. , 2014, American journal of human genetics.

[18]  Sven Bergmann,et al.  A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders. , 2014, American journal of human genetics.

[19]  E. Banks,et al.  De novo mutations in schizophrenia implicate synaptic networks , 2014, Nature.

[20]  Caroline F. Wright,et al.  DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation , 2013, Nucleic Acids Res..

[21]  C. Whibley,et al.  Risk factors for congenital anomaly in a multiethnic birth cohort: an analysis of the Born in Bradford study , 2013, The Lancet.

[22]  Arthur Wuster,et al.  DeNovoGear: de novo indel and point mutation discovery and phasing , 2013, Nature Methods.

[23]  D. Goldstein,et al.  Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes , 2013, PLoS genetics.

[24]  Fernando De la Torre,et al.  Supervised Descent Method and Its Applications to Face Alignment , 2013, 2013 IEEE Conference on Computer Vision and Pattern Recognition.

[25]  L. Vissers,et al.  Point mutations as a source of de novo genetic disease. , 2013, Current opinion in genetics & development.

[26]  Murim Choi,et al.  De novo mutations in histone modifying genes in congenital heart disease , 2013, Nature.

[27]  J. Rosenfeld,et al.  ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. , 2013, American journal of human genetics.

[28]  B. V. van Bon,et al.  Diagnostic exome sequencing in persons with severe intellectual disability. , 2012, The New England journal of medicine.

[29]  Kenny Q. Ye,et al.  An integrated map of genetic variation from 1,092 human genomes , 2012, Nature.

[30]  S. Steinberg,et al.  Rate of de novo mutations and the importance of father’s age to disease risk , 2012, Nature.

[31]  Kenny Q. Ye,et al.  De Novo Gene Disruptions in Children on the Autistic Spectrum , 2012, Neuron.

[32]  Michael F. Walker,et al.  De novo mutations revealed by whole-exome sequencing are strongly associated with autism , 2012, Nature.

[33]  Bradley P. Coe,et al.  Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations , 2012, Nature.

[34]  Gregory M. Cooper,et al.  A Copy Number Variation Morbidity Map of Developmental Delay , 2011, Nature Genetics.

[35]  H. Ropers Genetics of early onset cognitive impairment. , 2010, Annual review of genomics and human genetics.

[36]  M. DePristo,et al.  The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. , 2010, Genome research.

[37]  David A. McAllester,et al.  Object Detection with Discriminatively Trained Part Based Models , 2010, IEEE Transactions on Pattern Analysis and Machine Intelligence.

[38]  I. Krantz,et al.  SMC1A expression and mechanism of pathogenicity in probands with X‐Linked Cornelia de Lange syndrome , 2009, Human mutation.

[39]  Marcel H. Schulz,et al.  Clinical diagnostics in human genetics with semantic similarity searches in ontologies. , 2009, American journal of human genetics.

[40]  Gonçalo R. Abecasis,et al.  The Sequence Alignment/Map format and SAMtools , 2009, Bioinform..

[41]  C. Shaw-Smith,et al.  Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects , 2009, Genetics in Medicine.

[42]  A. Wilkie,et al.  The molecular basis of genetic dominance. , 1994, Journal of medical genetics.

[43]  Binocar Congenital Anomaly Statistics 2010: England and Wales , 2011 .

[44]  Claude-Alain H. Roten,et al.  Fast and accurate short read alignment with Burrows–Wheeler transform , 2009, Bioinform..

[45]  Daniel Rios,et al.  Bioinformatics Applications Note Databases and Ontologies Deriving the Consequences of Genomic Variants with the Ensembl Api and Snp Effect Predictor , 2022 .