Michael Brudno

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Publications in SciGraph latest 50 shown

  • 2021-09-07 Automatically disambiguating medical acronyms with ontology-aware deep learning in NATURE COMMUNICATIONS
  • 2020-09-29 Predicting Obstructive Hydronephrosis Based on Ultrasound Alone in MEDICAL IMAGE COMPUTING AND COMPUTER ASSISTED INTERVENTION – MICCAI 2020
  • 2020-09-15 From Clinic to Computer and Back Again: Practical Considerations When Designing and Implementing Machine Learning Solutions for Pediatrics in CURRENT TREATMENT OPTIONS IN PEDIATRICS
  • 2020-08-16 Obsessive-compulsive disorder and attention-deficit/hyperactivity disorder: distinct associations with DNA methylation and genetic variation in JOURNAL OF NEURODEVELOPMENTAL DISORDERS
  • 2020-07-02 A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features in SCIENTIFIC REPORTS
  • 2020-06-18 Correction: Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes in GENETICS IN MEDICINE
  • 2020-05-05 Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes in GENETICS IN MEDICINE
  • 2019-10-21 Correction to: DNA methylation signature is prognostic of choroid plexus tumor aggressiveness in CLINICAL EPIGENETICS
  • 2019-09-25 Alterations in ALK/ROS1/NTRK/MET drive a group of infantile hemispheric gliomas in NATURE COMMUNICATIONS
  • 2019-08-13 DNA methylation signature is prognostic of choroid plexus tumor aggressiveness in CLINICAL EPIGENETICS
  • 2019-07-16 Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants in CLINICAL EPIGENETICS
  • 2019-07-09 New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome in BMC MEDICAL GENOMICS
  • 2019-04-02 Identifying Clinical Terms in Free-Text Notes Using Ontology-Guided Machine Learning in RESEARCH IN COMPUTATIONAL MOLECULAR BIOLOGY
  • 2018-11-19 Tamoxifen therapy in a murine model of myotubular myopathy in NATURE COMMUNICATIONS
  • 2018-08-02 Registered access: authorizing data access in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017-12-07 Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework in RARE DISEASES EPIDEMIOLOGY: UPDATE AND OVERVIEW
  • 2017-11-20 Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-06-21 Genome-wide placental DNA methylation analysis of severely growth-discordant monochorionic twins reveals novel epigenetic targets for intrauterine growth restriction in CLINICAL EPIGENETICS
  • 2016-05-09 Lactase non-persistence is directed by DNA variation-dependent epigenetic aging in NATURE STRUCTURAL & MOLECULAR BIOLOGY
  • 2016-04-05 A novel strain of cynomolgus macaque cytomegalovirus: implications for host-virus co-evolution in BMC GENOMICS
  • 2016-02-09 Erratum: Spatial genomic heterogeneity in diffuse intrinsic pontine and midline high-grade glioma: implications for diagnostic biopsy and targeted therapeutics in ACTA NEUROPATHOLOGICA COMMUNICATIONS
  • 2016-01-13 Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine in NPJ GENOMIC MEDICINE
  • 2016-01-04 Spatial genomic heterogeneity in diffuse intrinsic pontine and midline high-grade glioma: implications for diagnostic biopsy and targeted therapeutics in ACTA NEUROPATHOLOGICA COMMUNICATIONS
  • 2015-12-22 NSD1 mutations generate a genome-wide DNA methylation signature in NATURE COMMUNICATIONS
  • 2015-11-12 Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency in GENETICS IN MEDICINE
  • 2014-07-22 Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome in NATURE COMMUNICATIONS
  • 2014-04-06 Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations in NATURE GENETICS
  • 2014-01-26 Similarity network fusion for aggregating data types on a genomic scale in NATURE METHODS
  • 2011-11-21 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
  • 2009-10-15 Computational methods for discovering structural variation with next-generation sequencing in NATURE METHODS
  • 2009-05-31 MoDIL: detecting small indels from clone-end sequencing with mixtures of distributions in NATURE METHODS
  • 2009-04-16 Conservation of core gene expression in vertebrate tissues in BMC BIOLOGY
  • 2008-01-01 Ab Initio Whole Genome Shotgun Assembly with Mated Short Reads in RESEARCH IN COMPUTATIONAL MOLECULAR BIOLOGY
  • 2008-01-01 Read Mapping Algorithms for Single Molecule Sequencing Data in ALGORITHMS IN BIOINFORMATICS
  • 2007-08-16 Extensive parallelism in protein evolution in BIOLOGY DIRECT
  • 2007-03-20 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
  • 2007-01-01 Computability of Models for Sequence Assembly in ALGORITHMS IN BIOINFORMATICS
  • 2004 Chaining Algorithms for Alignment of Draft Sequence in ALGORITHMS IN BIOINFORMATICS
  • 2003-12-23 Fast and sensitive multiple alignment of large genomic sequences in BMC BIOINFORMATICS
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