Michael Brudno

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Publications in SciGraph latest 50 shown

  • 2018-12 Tamoxifen therapy in a murine model of myotubular myopathy in NATURE COMMUNICATIONS
  • 2018-12 Registered access: authorizing data access in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017-12 Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017-06 Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1 in JOURNAL OF HUMAN GENETICS
  • 2017-01 XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia in NATURE
  • 2017 Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework in RARE DISEASES EPIDEMIOLOGY: UPDATE AND OVERVIEW
  • 2016-12 A novel strain of cynomolgus macaque cytomegalovirus: implications for host-virus co-evolution in BMC GENOMICS
  • 2016-12 Erratum: Spatial genomic heterogeneity in diffuse intrinsic pontine and midline high-grade glioma: implications for diagnostic biopsy and targeted therapeutics in ACTA NEUROPATHOLOGICA COMMUNICATIONS
  • 2016-12 Genome-wide placental DNA methylation analysis of severely growth-discordant monochorionic twins reveals novel epigenetic targets for intrauterine growth restriction in CLINICAL EPIGENETICS
  • 2016-12 Spatial genomic heterogeneity in diffuse intrinsic pontine and midline high-grade glioma: implications for diagnostic biopsy and targeted therapeutics in ACTA NEUROPATHOLOGICA COMMUNICATIONS
  • 2016-11 Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine in NPJ GENOMIC MEDICINE
  • 2016-06 Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency in GENETICS IN MEDICINE
  • 2016-05-09 Lactase nonpersistence is directed by DNA-variation-dependent epigenetic aging in NATURE STRUCTURAL & MOLECULAR BIOLOGY
  • 2015-12 Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness in NATURE COMMUNICATIONS
  • 2015-12 NSD1 mutations generate a genome-wide DNA methylation signature in NATURE COMMUNICATIONS
  • 2014-12 Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome in NATURE COMMUNICATIONS
  • 2014-05 Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations in NATURE GENETICS
  • 2014-03 Similarity network fusion for aggregating data types on a genomic scale in NATURE METHODS
  • 2011-12 Variant detection and the Autism sequencing project in BMC BIOINFORMATICS
  • 2011 Hapsembler: An Assembler for Highly Polymorphic Genomes in RESEARCH IN COMPUTATIONAL MOLECULAR BIOLOGY
  • 2010 MoGUL: Detecting Common Insertions and Deletions in a Population in RESEARCH IN COMPUTATIONAL MOLECULAR BIOLOGY
  • 2009-11 Computational methods for discovering structural variation with next-generation sequencing in NATURE METHODS
  • 2009-07 MoDIL: detecting small indels from clone-end sequencing with mixtures of distributions in NATURE METHODS
  • 2009-03 Conservation of core gene expression in vertebrate tissues in BMC BIOLOGY
  • 2008 Ab Initio Whole Genome Shotgun Assembly with Mated Short Reads in RESEARCH IN COMPUTATIONAL MOLECULAR BIOLOGY
  • 2008 Read Mapping Algorithms for Single Molecule Sequencing Data in ALGORITHMS IN BIOINFORMATICS
  • 2007-12 Extensive parallelism in protein evolution in BIOLOGY DIRECT
  • 2007-03 A haplome alignment and reference sequence of the highly polymorphic Ciona savignyi genome in GENOME BIOLOGY
  • 2007 An Introduction to the Lagan Alignment Toolkit in COMPARATIVE GENOMICS
  • 2007 Computability of Models for Sequence Assembly in ALGORITHMS IN BIOINFORMATICS
  • 2004 Chaining Algorithms for Alignment of Draft Sequence in ALGORITHMS IN BIOINFORMATICS
  • 2003-12 Fast and sensitive multiple alignment of large genomic sequences in BMC BIOINFORMATICS
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