Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

[1]  N. Lubarr,et al.  DYT1 Early-Onset Isolated Dystonia , 2016 .

[2]  S. Bressman,et al.  Diagnosis and Management of Dystonia , 2016, Continuum.

[3]  Minna Männikkö,et al.  Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders , 2016, Nature Neuroscience.

[4]  C. I. Spencer,et al.  KMT2D regulates specific programs in heart development via histone H3 lysine 4 di-methylation , 2016, Development.

[5]  Michael Y. Galperin,et al.  The 2016 database issue of Nucleic Acids Research and an updated molecular biology database collection , 2015, Nucleic Acids Res..

[6]  Robert D. Finn,et al.  The Pfam protein families database: towards a more sustainable future , 2015, Nucleic Acids Res..

[7]  Aaron C. Daugherty,et al.  H3K4me3 Breadth Is Linked to Cell Identity and Transcriptional Consistency , 2014, Cell.

[8]  Damian Smedley,et al.  Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency , 2015, Genetics in Medicine.

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

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

[11]  S. Heales,et al.  Monoamine neurotransmitter disorders—clinical advances and future perspectives , 2015, Nature Reviews Neurology.

[12]  Tom R. Gaunt,et al.  The UK10K project identifies rare variants in health and disease , 2015, Nature.

[13]  M. Kurian,et al.  Neurodegeneration with Brain Iron Accumulation: Genetic Diversity and Pathophysiological Mechanisms. , 2015, Annual review of genomics and human genetics.

[14]  Peter Lackner,et al.  MAESTRO - multi agent stability prediction upon point mutations , 2015, BMC Bioinformatics.

[15]  Erica Y. Shen,et al.  Neuronal Kmt2a/Mll1 Histone Methyltransferase Is Essential for Prefrontal Synaptic Plasticity and Working Memory , 2015, The Journal of Neuroscience.

[16]  K. Bhatia,et al.  Isolated and combined dystonia syndromes – an update on new genes and their phenotypes , 2015, European journal of neurology.

[17]  Tomas W. Fitzgerald,et al.  Large-scale discovery of novel genetic causes of developmental disorders , 2014, Nature.

[18]  Erica Y. Shen,et al.  Regulation of histone H3K4 methylation in brain development and disease , 2014, Philosophical Transactions of the Royal Society B: Biological Sciences.

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

[20]  Douglas E. V. Pires,et al.  DUET: a server for predicting effects of mutations on protein stability using an integrated computational approach , 2014, Nucleic Acids Res..

[21]  G. Scarano,et al.  Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients , 2014, Human mutation.

[22]  Liuping Zhang,et al.  Dynamic patterns of histone H3 lysine 4 methyltransferases and demethylases during mouse preimplantation development , 2014, In Vitro Cellular & Developmental Biology - Animal.

[23]  Jean-Pierre Lin,et al.  The impact and prognosis for dystonia in childhood including dystonic cerebral palsy: a clinical and demographic tertiary cohort study , 2014, Journal of Neurology, Neurosurgery & Psychiatry.

[24]  Richard Wade-Martins,et al.  Physiological Characterisation of Human iPS-Derived Dopaminergic Neurons , 2014, PloS one.

[25]  Jiahai Zhang,et al.  Structural and Functional Insights into the Human Börjeson-Forssman-Lehmann Syndrome-associated Protein PHF6* , 2014, The Journal of Biological Chemistry.

[26]  J. Shendure,et al.  A general framework for estimating the relative pathogenicity of human genetic variants , 2014, Nature Genetics.

[27]  Xiaoman Li,et al.  H3K4me2 reliably defines transcription factor binding regions in different cells. , 2014, Genomics.

[28]  Semyon Kruglyak,et al.  Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms , 2013, Bioinform..

[29]  K. Bhatia,et al.  The genetics of dystonia: new twists in an old tale , 2013, Brain : a journal of neurology.

[30]  M. Hallett,et al.  Phenomenology and classification of dystonia: A consensus update , 2013, Movement disorders : official journal of the Movement Disorder Society.

[31]  J. Whetstine,et al.  Histone lysine methylation dynamics: establishment, regulation, and biological impact. , 2012, Molecular cell.

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

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

[34]  M. Simpson,et al.  De novo mutations in MLL cause Wiedemann-Steiner syndrome. , 2012, American journal of human genetics.

[35]  Christian Gilissen,et al.  Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. , 2012, American journal of human genetics.

[36]  G. Peters,et al.  Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single‐centre study , 2012, Developmental medicine and child neurology.

[37]  O. Lindvall,et al.  Generation of regionally specified neural progenitors and functional neurons from human embryonic stem cells under defined conditions. , 2012, Cell reports.

[38]  Johannes E. Schindelin,et al.  Fiji: an open-source platform for biological-image analysis , 2012, Nature Methods.

[39]  B. Faircloth,et al.  Primer3—new capabilities and interfaces , 2012, Nucleic acids research.

[40]  J. Mullikin,et al.  Analysis of DNA sequence variants detected by high‐throughput sequencing , 2012, Human mutation.

[41]  S. Schneider,et al.  Neuroimaging Features of Neurodegeneration with Brain Iron Accumulation , 2012, American Journal of Neuroradiology.

[42]  A. Ramasamy,et al.  Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies , 2011, Journal of neurochemistry.

[43]  Rena A. Godfrey,et al.  The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases , 2011, Genetics in Medicine.

[44]  C. Musselman,et al.  Handpicking epigenetic marks with PHD fingers , 2011, Nucleic acids research.

[45]  Ming-Ming Zhou,et al.  The PHD finger: a versatile epigenome reader. , 2011, Trends in biochemical sciences.

[46]  T. Dingermann,et al.  The heterodimerization domains of MLL—FYRN and FYRC—are potential target structures in t(4;11) leukemia , 2011, Leukemia.

[47]  R. Young,et al.  Histone H3K27ac separates active from poised enhancers and predicts developmental state , 2010, Proceedings of the National Academy of Sciences.

[48]  A. Murrell,et al.  Evaluation of Allelic Expression of Imprinted Genes in Adult Human Blood , 2010, PloS one.

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

[50]  Emily H Turner,et al.  Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome , 2010, Nature Genetics.

[51]  H. Hakonarson,et al.  ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data , 2010, Nucleic acids research.

[52]  Iris Müller,et al.  Methylation of H3K4 Is Required for Inheritance of Active Transcriptional States , 2010, Current Biology.

[53]  M. Hasegawa,et al.  Efficient induction of transgene-free human pluripotent stem cells using a vector based on Sendai virus, an RNA virus that does not integrate into the host genome , 2009, Proceedings of the Japan Academy. Series B, Physical and biological sciences.

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

[55]  C Turleau,et al.  19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation , 2009, Journal of Medical Genetics.

[56]  R. Kingston,et al.  WDR5 Interacts with Mixed Lineage Leukemia (MLL) Protein via the Histone H3-binding Pocket* , 2008, Journal of Biological Chemistry.

[57]  C. Allis,et al.  Extraction, purification and analysis of histones , 2007, Nature Protocols.

[58]  Karen E. Pilcher,et al.  Protocols for growth and development of Dictyostelium discoideum , 2007, Nature Protocols.

[59]  Maido Remm,et al.  Enhancements and modifications of primer design program Primer3 , 2007, Bioinform..

[60]  T. Kouzarides Chromatin Modifications and Their Function , 2007, Cell.

[61]  A. Sali,et al.  Statistical potential for assessment and prediction of protein structures , 2006, Protein science : a publication of the Protein Society.

[62]  G. Shaulsky,et al.  Developmental timing in Dictyostelium is regulated by the Set1 histone methyltransferase. , 2006, Developmental biology.

[63]  Itay Mayrose,et al.  ConSurf 2005: the projection of evolutionary conservation scores of residues on protein structures , 2005, Nucleic Acids Res..

[64]  Johannes Söding,et al.  The HHpred interactive server for protein homology detection and structure prediction , 2005, Nucleic Acids Res..

[65]  Thomas A. Milne,et al.  WDR5 Associates with Histone H3 Methylated at K4 and Is Essential for H3 K4 Methylation and Vertebrate Development , 2005, Cell.

[66]  A. Ormazabal,et al.  HPLC with electrochemical and fluorescence detection procedures for the diagnosis of inborn errors of biogenic amines and pterins , 2005, Journal of Neuroscience Methods.

[67]  Conrad C. Huang,et al.  UCSF Chimera—A visualization system for exploratory research and analysis , 2004, J. Comput. Chem..

[68]  Paul Tempst,et al.  Proteolytic Cleavage of MLL Generates a Complex of N- and C-Terminal Fragments That Confers Protein Stability and Subnuclear Localization , 2003, Molecular and Cellular Biology.

[69]  Thomas D. Schmittgen,et al.  Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. , 2001, Methods.

[70]  T. Blundell,et al.  Comparative protein modelling by satisfaction of spatial restraints. , 1993, Journal of molecular biology.

[71]  D. Howells,et al.  Cerebrospinal Fluid Concentrations of Pterins and Metabolites of Serotonin and Dopamine in a Pediatric Reference Population , 1993, Pediatric Research.

[72]  A. Noegel,et al.  Overexpression of the csA cell adhesion molecule under its own cAMP-regulated promoter impairs morphogenesis in Dictyostelium. , 1992, Journal of cell science.

[73]  The UK 10 K project identifies rare variants in health and disease , 2018 .

[74]  Large-scale discovery of novel genetic causes of developmental disorders , 2018 .

[75]  P. Fey,et al.  One stop shop for everything Dictyostelium: dictyBase and the Dicty Stock Center in 2012. , 2013, Methods in molecular biology.

[76]  Sequence analysis Advance Access publication June 7, 2011 The variant call format and VCFtools , 2010 .

[77]  Karen E. Pilcher,et al.  dictyBase and the Dicty Stock Center. , 2006, Methods in molecular biology.

[78]  W Zeman,et al.  Dystonia: an overview. , 1976, Advances in neurology.

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

[80]  Thomas D. Schmittgen,et al.  Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2 2 DD C T Method , 2022 .

[81]  BIOINFORMATICS ORIGINAL PAPER Sequence analysis Fast and accurate short read alignment with Burrows–Wheeler transform , 2022 .