Wyeth W Wasserman

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Wyeth W



Publications in SciGraph latest 50 shown

  • 2018-12-13 Atypical cerebral palsy: genomics analysis enables precision medicine in GENETICS IN MEDICINE
  • 2018-12 Genome-wide prediction of cis-regulatory regions using supervised deep learning methods in BMC BIOINFORMATICS
  • 2018-07-24 MANTA2, update of the Mongo database for the analysis of transcription factor binding site alterations in SCIENTIFIC DATA
  • 2018-05 The role of the clinician in the multi-omics era: are you ready? in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2018-05 Text-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2018-05 Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2018-01 Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism in GENETICS IN MEDICINE
  • 2017-12 Correction to: FLAGS, frequently mutated genes in public exomes in BMC MEDICAL GENOMICS
  • 2017-12 Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders in GENETICS IN MEDICINE
  • 2017-12 Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease in ORPHANET JOURNAL OF RARE DISEASES
  • 2017-06 Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development in NATURE GENETICS
  • 2016-12 YY1 binding association with sex-biased transcription revealed through X-linked transcript levels and allelic binding analyses in SCIENTIFIC REPORTS
  • 2016-12 rAAV-compatible MiniPromoters for restricted expression in the brain and eye in MOLECULAR BRAIN
  • 2016-07 NANS-mediated synthesis of sialic acid is required for brain and skeletal development in NATURE GENETICS
  • 2016-06 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016 Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes in JIMD REPORTS, VOLUME 31
  • 2015-12 Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms in ORPHANET JOURNAL OF RARE DISEASES
  • 2015-12 Cis-regulatory somatic mutations and gene-expression alteration in B-cell lymphomas in GENOME BIOLOGY
  • 2015-12 The genotypic and phenotypic spectrum of PIGA deficiency in ORPHANET JOURNAL OF RARE DISEASES
  • 2015-12 Combined serial analysis of gene expression and transcription factor binding site prediction identifies novel-candidate-target genes of Nr2e1 in neocortex development in BMC GENOMICS
  • 2015-10 RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-06 A SNP in the HTT promoter alters NF-κB binding and is a bidirectional genetic modifier of Huntington disease in NATURE NEUROSCIENCE
  • 2015-04 Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities in NEUROGENETICS
  • 2015 Deep Feature Selection: Theory and Application to Identify Enhancers and Promoters in RESEARCH IN COMPUTATIONAL MOLECULAR BIOLOGY
  • 2014-12 Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking in ORPHANET JOURNAL OF RARE DISEASES
  • 2014-12 Improving analysis of transcription factor binding sites within ChIP-Seq data based on topological motif enrichment in BMC GENOMICS
  • 2014-12 FLAGS, frequently mutated genes in public exomes in BMC MEDICAL GENOMICS
  • 2014-12 On the identification of potential regulatory variants within genome wide association candidate SNP sets in BMC MEDICAL GENOMICS
  • 2014-08 AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset in NEUROGENETICS
  • 2014-07 Exome sequencing pilot study in children with carbamazepine-induced serious skin reactions in CLINICAL AND TRANSLATIONAL ALLERGY
  • 2014-07 Non-targeted transcription factors motifs are a systemic component of ChIP-seq datasets in GENOME BIOLOGY
  • 2014-03 A promoter-level mammalian expression atlas in NATURE
  • 2013-12 Non-coding-regulatory regions of human brain genes delineated by bacterial artificial chromosome knock-in mice in BMC BIOLOGY
  • 2013-05 Compensating for literature annotation bias when predicting novel drug-disease relationships through Medical Subject Heading Over-representation Profile (MeSHOP) similarity in BMC MEDICAL GENOMICS
  • 2012-12 Quantitative biomedical annotation using medical subject heading over-representation profiles (MeSHOPs) in BMC BIOINFORMATICS
  • 2012-09 Inferring novel gene-disease associations using Medical Subject Heading Over-representation Profiles in GENOME MEDICINE
  • 2012-06 The clonal and mutational evolution spectrum of primary triple-negative breast cancers in NATURE
  • 2012-03 The Transcription Factor Encyclopedia in GENOME BIOLOGY
  • 2011-12 MIR@NT@N: a framework integrating transcription factors, microRNAs and their targets to identify sub-network motifs in a meta-regulation network model in BMC BIOINFORMATICS
  • 2011-10 Identification of cis-regulatory sequence variations in individual genome sequences in GENOME MEDICINE
  • 2010-06 Laboratory Animal Management Assistant (LAMA): a LIMS for active research colonies in MAMMALIAN GENOME
  • 2009-03 TFCat: the curated catalog of mouse and human transcription factors in GENOME BIOLOGY
  • 2008-12 Identification of a set of genes showing regionally enriched expression in the mouse brain in BMC NEUROSCIENCE
  • 2007-10 PAZAR: a framework for collection and dissemination of cis-regulatory sequence annotation in GENOME BIOLOGY
  • 2006-12 NovelFam3000 – Uncharacterized human protein domains conserved across model organisms in BMC GENOMICS
  • 2005-12 Ulysses - an application for the projection of molecular interactions across species in GENOME BIOLOGY
  • 2005-12 Identification of functional SNPs in the 5-prime flanking sequences of human genes in BMC GENOMICS
  • 2005-12 The Gene Set Builder: collation, curation, and distribution of sets of genes in BMC BIOINFORMATICS
  • 2004-12 Arrays of ultraconserved non-coding regions span the loci of key developmental genes in vertebrate genomes in BMC GENOMICS
  • 2004-04 Applied bioinformatics for the identification of regulatory elements in NATURE REVIEWS GENETICS
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