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Lista de obras de Wyeth W Wasserman

A SNP in the HTT promoter alters NF-κB binding and is a bidirectional genetic modifier of Huntington disease

artículo científico publicado en 2015

A case of splenomegaly in CBL syndrome

artículo científico publicado en 2017

A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder

artículo científico publicado en 2017

A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy-Expanding NDST1 syndrome

artículo científico publicado en 2017

A new generation of JASPAR, the open-access repository for transcription factor binding site profiles

artículo científico publicado en 2006

A predictive model for regulatory sequences directing liver-specific transcription.

artículo científico publicado en 2001

A promoter-level mammalian expression atlas

artículo científico publicado en 2014

A regulatory toolbox of MiniPromoters to drive selective expression in the brain

artículo científico publicado en 2010

A role for YY1 in sex-biased transcription revealed through X-linked promoter activity and allelic binding analyses

article

AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset

artículo científico publicado en 2014

Analysis of R59022 actions in Xenopus laevis oocytes

artículo científico publicado en 1996

Applied bioinformatics for the identification of regulatory elements

artículo científico publicado en 2004

Arrays of ultraconserved non-coding regions span the loci of key developmental genes in vertebrate genomes

artículo científico publicado en 2004

Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders

artículo científico publicado en 2017

Atypical cerebral palsy: genomics analysis enables precision medicine

scientific article published on 13 December 2018

Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy

scientific article published on 15 August 2019

Biologically relevant transfer learning improves transcription factor binding prediction

artículo científico

Bone health and SATB2-associated syndrome.

artículo científico publicado en 2017

CAGEd-oPOSSUM: motif enrichment analysis from CAGE-derived TSSs

artículo científico publicado en 2016

CBP/cycA, a CCAAT-binding protein necessary for adhesion-dependent cyclin A transcription, consists of NF-Y and a novel Mr 115,000 subunit

artículo científico publicado en 1997

Cis-regulatory somatic mutations and gene-expression alteration in B-cell lymphomas.

artículo científico publicado en 2015

Combined serial analysis of gene expression and transcription factor binding site prediction identifies novel-candidate-target genes of Nr2e1 in neocortex development

artículo científico publicado en 2015

Compensating for literature annotation bias when predicting novel drug-disease relationships through Medical Subject Heading Over-representation Profile (MeSHOP) similarity ⬇️

artículo científico publicado el 7 de mayo de 2013

Complete functional rescue of the ABCA1-/- mouse by human BAC transgenesis

artículo científico publicado en 2005

Comprehensive Analysis of Proteins Which Interact with the Antioxidant Responsive Element: Correlation of ARE-BP-1 with the Chemoprotective Induction Response

article

ConSite: web-based prediction of regulatory elements using cross-species comparison

artículo científico publicado en 2004

Constrained binding site diversity within families of transcription factors enhances pattern discovery bioinformatics

artículo científico publicado en 2004

Correction to: FLAGS, frequently mutated genes in public exomes

artículo científico publicado en 2017

Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development

artículo científico publicado en 2017

CuboCube: Student creation of a cancer genetics e-textbook using open-access software for social learning.

artículo científico publicado en 2017

Curation and bioinformatic analysis of strabismus genes supports functional heterogeneity and proposes candidate genes with connections to RASopathies

scientific article published on 15 February 2019

Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis

artículo científico publicado en 2016

DNA Shape Features Improve Transcription Factor Binding Site Predictions In Vivo

artículo científico publicado en 2016

DNA methylation profiling in human Huntington's disease brain.

artículo científico publicado en 2016

DNAJC13 mutations in Parkinson disease

artículo científico publicado en 2014

De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome

artículo científico publicado en 2015

Decoding human regulatory circuits

artículo científico publicado en 2004

Deep Feature Selection: Theory and Application to Identify Enhancers and Promoters

artículo científico publicado en 2016

DeepCAGE Transcriptomics Reveal an Important Role of the Transcription Factor MAFB in the Lymphatic Endothelium

artículo científico publicado en 2015

DeepCAGE transcriptomics identify HOXD10 as a transcription factor regulating lymphatic endothelial responses to VEGF-C.

artículo científico publicado en 2016

Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms

artículo científico publicado en 2015

Demonstrating the utility of flexible sequence queries against indexed short reads with FlexTyper

artículo científico publicado en 2021

Development and user evaluation of a rare disease gene prioritization workflow based on cognitive ergonomics

scientific article published on 01 February 2019

Discovery and expansion of gene modules by seeking isolated groups in a random graph process

artículo científico publicado en 2008

Dynamics of the yeast transcriptome during wine fermentation reveals a novel fermentation stress response

artículo científico publicado en 2008

Evaluating the impact of single nucleotide variants on transcription factor binding.

artículo científico publicado en 2016

Exome Sequencing and the Management of Neurometabolic Disorders.

artículo científico publicado en 2016

Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.

artículo científico publicado en 2013

Exome sequencing pilot study in children with carbamazepine-induced serious skin reactions

artículo científico publicado en 2014

Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities

artículo científico publicado en 2014

Exploring the foundation of genomics: a northern blot reference set for the comparative analysis of transcript profiling technologies

artículo científico publicado en 2004

FLAGS, frequently mutated genes in public exomes

artículo científico publicado en 2014

Functional antioxidant responsive elements.

artículo científico publicado en 1997

Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy

artículo científico publicado en 2016

Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype

artículo científico publicado en 2018

Gene characterization index: assessing the depth of gene annotation

artículo científico publicado en 2008

Gene expression models based on transcription factor binding events confer insight into functional cis-regulatory variants

scientific article published on 01 August 2019

GeneBreaker - Variant simulation to improve the diagnosis of Mendelian rare genetic diseases

artículo científico publicado en 2020

GeneLynx mouse: integrated portal to the mouse genome

artículo científico

GeneLynx: A Gene-Centric Portal to the Human Genome ⬇️

artículo científico publicado el 1 de diciembre de 2001

GeneYenta: a phenotype-based rare disease case matching tool based on online dating algorithms for the acceleration of exome interpretation

artículo científico

Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G > A and a large intragenic inversion in DPYD spanning intron 8 to intron 12.

artículo científico publicado en 2018

Genome-wide prediction of cis-regulatory regions using supervised deep learning methods.

artículo científico publicado en 2018

Global mapping of binding sites for Nrf2 identifies novel targets in cell survival response through ChIP-Seq profiling and network analysis

artículo científico publicado en 2010

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in

scientific article published on 01 April 2019

Human Enhancers Harboring Specific Sequence Composition, Activity, and Genome Organization Are Linked to the Immune Response

artículo científico publicado en 2018

Human enhancers harboring specific sequence composition, activity, and genome organization are linked to the immune response

article

Human-mouse genome comparisons to locate regulatory sites

artículo científico publicado en 2000

Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease

artículo científico publicado en 2017

Identification of a set of genes showing regionally enriched expression in the mouse brain

artículo científico publicado en 2008

Identification of altered cis-regulatory elements in human disease

artículo científico publicado en 2015

Identification of cis-regulatory sequence variations in individual genome sequences

artículo científico publicado en 2011

Identification of conserved regulatory elements by comparative genome analysis

artículo científico publicado en 2003

Identification of functional SNPs in the 5-prime flanking sequences of human genes

artículo científico publicado en 2005

Identification of functional clusters of transcription factor binding motifs in genome sequences: the MSCAN algorithm.

artículo científico publicado en 2003

Identification of non-coding genetic variants in samples from hypoxemic respiratory disease patients that affect the transcriptional response to hypoxia.

artículo científico publicado en 2016

Identification of novel cerebellar developmental transcriptional regulators with motif activity analysis

scientific article published on 18 September 2019

Identification of regulatory regions which confer muscle-specific gene expression

artículo científico publicado en 1998

Impact of next-generation sequencing on diagnosis and management of neurometabolic disorders: current advances and future perspectives

artículo científico publicado en 2017

Improvement of Self-Injury With Dopamine and Serotonin Replacement Therapy in a Patient With a Hemizygous PAK3 Mutation: A New Therapeutic Strategy for Neuropsychiatric Features of an Intellectual Disability Syndrome

artículo científico publicado en 2018

Improving analysis of transcription factor binding sites within ChIP-Seq data based on topological motif enrichment

artículo científico publicado en 2014

In silico detection of sequence variations modifying transcriptional regulation

artículo científico publicado en 2008

In silico identification of metazoan transcriptional regulatory regions

article

Inferring novel gene-disease associations using Medical Subject Heading Over-representation Profiles

artículo científico publicado en 2012

Integrated analysis of yeast regulatory sequences for biologically linked clusters of genes

artículo científico publicado en 2003

Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review ⬇️

artículo científico publicado en 2018

Interfaces of Malignant and Immunologic Clonal Dynamics in Ovarian Cancer

artículo científico publicado en 2018

JASPAR 2010: the greatly expanded open-access database of transcription factor binding profiles

artículo científico publicado en 2010

JASPAR 2014: an extensively expanded and updated open-access database of transcription factor binding profiles

artículo científico publicado en 2013

JASPAR 2016: a major expansion and update of the open-access database of transcription factor binding profiles

artículo científico publicado en 2016

JASPAR 2018: update of the open-access database of transcription factor binding profiles and its web framework

artículo científico publicado en 2017

JASPAR 2018: update of the open-access database of transcription factor binding profiles and its web framework

scholarly article by Aziz Khan et al published 4 January 2018 in Nucleic Acids Research

JASPAR 2020: update of the open-access database of transcription factor binding profiles

artículo científico publicado en 2020

JASPAR 2022: the 9th release of the open-access database of transcription factor binding profiles

artículo científico publicado en 2021

JASPAR 2024: 20th anniversary of the open-access database of transcription factor binding profiles

artículo científico publicado en 2023

JASPAR: an open-access database for eukaryotic transcription factor binding profiles

artículo científico publicado en 2004

Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism

artículo científico publicado en 2017

Laboratory Animal Management Assistant (LAMA): a LIMS for active research colonies

artículo científico publicado en 2010

Linkage analysis identifies an isolated strabismus locus at 14q12 overlapping with FOXG1 syndrome region

artículo científico publicado en 2020

MANTA2, update of the Mongo database for the analysis of transcription factor binding site alterations

artículo científico publicado en 2018

MIR@NT@N: a framework integrating transcription factors, microRNAs and their targets to identify sub-network motifs in a meta-regulation network model

artículo científico publicado en 2011

MSCAN: identification of functional clusters of transcription factor binding sites

artículo científico publicado en 2004

Mechanisms underlying p53 regulation of PIK3CA transcription in ovarian surface epithelium and in ovarian cancer.

artículo científico publicado en 2008

Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes

artículo científico publicado en 2016

Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood

scientific article published on 13 February 2014

NANS-mediated synthesis of sialic acid is required for brain and skeletal development

artículo científico publicado en 2016

New MiniPromoter Ple345 (NEFL) Drives Strong and Specific Expression in Retinal Ganglion Cells of Mouse and Primate Retina

artículo científico publicado en 2018

Non-coding-regulatory regions of human brain genes delineated by bacterial artificial chromosome knock-in mice

artículo científico publicado en 2013

Non-targeted transcription factors motifs are a systemic component of ChIP-seq datasets

artículo científico publicado en 2014

NotI flanking sequences: a tool for gene discovery and verification of the human genome

artículo científico publicado en 2002

NovelFam3000--uncharacterized human protein domains conserved across model organisms

artículo científico publicado en 2006

ORegAnno: an open-access community-driven resource for regulatory annotation

artículo científico publicado en 2008

On the identification of potential regulatory variants within genome wide association candidate SNP sets

artículo científico publicado en 2014

Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation

artículo científico publicado en 2017

Organization of the ABCR gene: analysis of promoter and splice junction sequences

artículo científico publicado en 1998

PAX6 MiniPromoters drive restricted expression from rAAV in the adult mouse retina.

artículo científico publicado en 2016

PAZAR: a framework for collection and dissemination of cis-regulatory sequence annotation

artículo científico publicado en 2007

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights

scientific article published on 01 March 2019

Phylogenetic Footprinting

scholarly article published 30 April 2008

Phylogenetic Footprinting

scholarly article published 15 July 2006

Portal for Families Overcoming Neurodevelopmental Disorders (PFOND): Implementation of a Software Framework for Facilitated Community Website Creation by Nontechnical Volunteers

artículo científico publicado en 2013

Prediction of nuclear hormone receptor response elements

artículo científico publicado en 2004

Quantitative biomedical annotation using medical subject heading over-representation profiles (MeSHOPs)

artículo científico publicado en 2012

RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement

artículo científico publicado en 2015

Regulog analysis: detection of conserved regulatory networks across bacteria: application to Staphylococcus aureus

artículo científico publicado en 2004

Retina restored and brain abnormalities ameliorated by single-copy knock-in of human NR2E1 in null mice

artículo científico publicado en 2012

SAGE2Splice: unmapped SAGE tags reveal novel splice junctions

artículo científico publicado en 2006

Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?

artículo científico publicado en 2015

Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function

artículo científico publicado en 2018

Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking

artículo científico publicado en 2014

Strabismus genetics across a spectrum of eye misalignment disorders

artículo científico publicado en 2014

Strabismus in Children With Intellectual Disability: Part of a Broader Motor Control Phenotype?

scientific article published on 11 April 2019

Structure and function of adenosine receptors and their genes.

artículo científico publicado en 2000

TFBS: Computational framework for transcription factor binding site analysis

artículo científico publicado en 2002

TFBSshape: a motif database for DNA shape features of transcription factor binding sites

artículo científico publicado en 2013

TFCat: the curated catalog of mouse and human transcription factors

artículo científico publicado en 2009

TFEA.ChIP: a tool kit for transcription factor binding site enrichment analysis capitalizing on ChIP-seq datasets

artículo científico publicado en 2019

Targeted CNS Delivery Using Human MiniPromoters and Demonstrated Compatibility with Adeno-Associated Viral Vectors.

artículo científico publicado en 2014

Text-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis

artículo científico publicado en 2018

The Gene Set Builder: collation, curation, and distribution of sets of genes

artículo científico publicado en 2005

The NeuroDevNet Neuroinformatics Core

artículo científico publicado en 2011

The Next Generation of Transcription Factor Binding Site Prediction ⬇️

artículo científico publicado el 5 de septiembre de 2013

The PAZAR database of gene regulatory information coupled to the ORCA toolkit for the study of regulatory sequences

artículo científico publicado en 2008

The SIN3A histone deacetylase complex is required for a complete transcriptional response to hypoxia

artículo científico publicado en 2017

The clonal and mutational evolution spectrum of primary triple-negative breast cancers

artículo científico publicado en 2012

The genotypic and phenotypic spectrum of MTO1 deficiency.

artículo científico publicado en 2017

The genotypic and phenotypic spectrum of PIGA deficiency

artículo científico publicado en 2015

The identification of cis-regulatory elements: A review from a machine learning perspective

artículo científico publicado en 2015

The murine Bin1 gene functions early in myogenesis and defines a new region of synteny between mouse chromosome 18 and human chromosome 2

artículo científico publicado en 1999

The role of the clinician in the multi-omics era: are you ready?

artículo científico publicado en 2018

The transcription factor encyclopedia

artículo científico publicado en 2012

Towards resolving the transcription factor network controlling myelin gene expression

artículo científico publicado en 2011

Transcriptional repression of microRNA genes by PML-RARA increases expression of key cancer proteins in acute promyelocytic leukemia

artículo científico publicado en 2008

Twenty-Seven Tamoxifen-Inducible iCre-Driver Mouse Strains for Eye and Brain, Including Seventeen Carrying a New Inducible-First Constitutive-Ready Allele

article

Ulysses - an application for the projection of molecular interactions across species.

artículo científico publicado en 2005

Understanding the language of gene regulation

artículo científico publicado en 2003

Usability study of clinical exome analysis software: top lessons learned and recommendations

artículo científico publicado en 2014

Utilizing social media to study information-seeking and ethical issues in gene therapy

artículo científico publicado en 2013

VPS35 Mutations in Parkinson Disease

scholarly article by Carles Vilariño-Güell et al published August 2011 in American Journal of Human Genetics

VPS35 mutations in Parkinson disease

artículo científico publicado en 2011

Validation of skeletal muscle cis-regulatory module predictions reveals nucleotide composition bias in functional enhancers

artículo científico publicado en 2011

YY1 binding association with sex-biased transcription revealed through X-linked transcript levels and allelic binding analyses

artículo científico publicado en 2016

c-Myc is a novel Leishmania virulence factor by proxy that targets the host miRNA system and is essential for survival in human macrophages

scientific article published on 22 June 2018

metPropagate: network-guided propagation of metabolomic information for prioritization of metabolic disease genes

artículo científico publicado en 2020

oPOSSUM-3: advanced analysis of regulatory motif over-representation across genes or ChIP-Seq datasets

artículo científico publicado en 2012

oPOSSUM: identification of over-represented transcription factor binding sites in co-expressed genes

artículo científico publicado en 2005

oPOSSUM: integrated tools for analysis of regulatory motif over-representation

artículo científico publicado en 2007

rAAV-compatible MiniPromoters for restricted expression in the brain and eye.

artículo científico publicado en 2016

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