Lista de obras - Stefan Haas - Dominio Público Uruguay

A DNA microarray for fission yeast: minimal changes in global gene expression after temperature shift

artículo científico publicado en 2004

A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia

artículo científico publicado en 2015

A global view of gene activity and alternative splicing by deep sequencing of the human transcriptome

artículo científico publicado en 2008

A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability

artículo científico publicado en 2012

An integrated gene annotation and transcriptional profiling approach towards the full gene content of the Drosophila genome

artículo científico publicado en 2003

Analysis of Genes Involved in Body Weight Regulation by Targeted Re-Sequencing

artículo científico publicado en 2016

Breakpointer: using local mapping artifacts to support sequence breakpoint discovery from single-end reads

artículo científico publicado en 2012

CD74-NRG1 fusions in lung adenocarcinoma

artículo científico publicado en 2014

Characterization of hundreds of regulatory landscapes in developing limbs reveals two regimes of chromatin folding

artículo científico publicado en 2016

Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation

article

Comparing active and repressed expression states of genes controlled by the Polycomb/Trithorax group proteins

artículo científico publicado en 2007

Comprehensive genomic profiles of small cell lung cancer

artículo científico publicado en 2015

CpG-depleted promoters harbor tissue-specific transcription factor binding signals--implications for motif overrepresentation analyses

scientific article published on 06 September 2009

Customized Oligonucleotide Microarray Gene Expression–Based Classification of Neuroblastoma Patients Outperforms Current Clinical Risk Stratification

article

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

artículo científico publicado en 2011

Detecting genomic indel variants with exact breakpoints in single- and paired-end sequencing data using SplazerS.

artículo científico publicado en 2012

Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions

artículo científico publicado en 2015

EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.

artículo científico publicado en 2017

Frequent mutations in chromatin-remodelling genes in pulmonary carcinoids

artículo científico publicado en 2014

Functional analysis and identification of cis-regulatory elements of human chromosome 21 gene promoters

artículo científico publicado en 2010

Gene identification and analysis of transcripts differentially regulated in fracture healing by EST sequencing in the domestic sheep

artículo científico publicado en 2006

GeneNest: automated generation and visualization of gene indices

article

Genome-Wide Binding of Posterior HOXA/D Transcription Factors Reveals Subgrouping and Association with CTCF.

artículo científico publicado en 2017

Genome-scale design of PCR primers and long oligomers for DNA microarrays

artículo científico publicado en 2003

Genome-wide RNAi analysis of growth and viability in Drosophila cells

artículo científico publicado en 2004

Genome-wide analysis of LXRα activation reveals new transcriptional networks in human atherosclerotic foam cells

artículo científico publicado en 2013

Genome-wide comparison of cyanobacterial transposable elements, potential genetic diversity indicators

artículo científico publicado en 2010

Genomic and Functional Fidelity of Small Cell Lung Cancer Patient-Derived Xenografts.

artículo científico publicado en 2018

Haplotype-resolved sweet potato genome traces back its hexaploidization history

artículo científico

Identification and Classification of Differentially Expressed Genes in Renal Cell Carcinoma by Expression Profiling on a Global Human 31,500-Element cDNA Array ⬇️

artículo científico publicado el 1 de noviembre de 2001

Identification of novel fusion genes in lung cancer using breakpoint assembly of transcriptome sequencing data

artículo científico publicado en 2015

Identification of novel transcriptional regulators involved in macrophage differentiation and activation in U937 cells

artículo científico publicado en 2009

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems

artículo científico publicado en 2015

Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer

artículo científico publicado en 2012

Integrative genomic profiling of large-cell neuroendocrine carcinomas reveals distinct subtypes of high-grade neuroendocrine lung tumors.

artículo científico publicado en 2018

Intronic CA-repeat and CA-rich elements: a new class of regulators of mammalian alternative splicing

artículo científico publicado en 2005

Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function.

artículo científico publicado en 2014

Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth

artículo científico publicado en 2013

Modeling read counts for CNV detection in exome sequencing data

artículo científico publicado en 2011

Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing.

artículo científico publicado en 2009

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

scientific journal article

Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology

artículo científico publicado en 2014

Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin

artículo científico publicado en 2012

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

artículo científico publicado en 2003

New insights into Brunner syndrome and potential for targeted therapy.

artículo científico publicado en 2015

Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment

artículo científico publicado en 2011

Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family

artículo científico publicado en 2015

PASTAA: identifying transcription factors associated with sets of co-regulated genes

artículo científico publicado en 2008

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

article

Prediction of alternative isoforms from exon expression levels in RNA-Seq experiments

artículo científico publicado en 2010

Primer design for large scale sequencing.

artículo científico publicado en 1998

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features

artículo científico publicado en 2017

SYSTERS, GeneNest, SpliceNest: exploring sequence space from genome to protein

artículo científico publicado en 2002

Screening of human gene promoter activities using transfected-cell arrays

artículo científico publicado en 2010

Strengths and weaknesses of EST-based prediction of tissue-specific alternative splicing

artículo científico publicado en 2004

T-STAG: resource and web-interface for tissue-specific transcripts and genes

artículo científico publicado en 2005

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability

scientific journal article

Temporal transcriptomic analysis of the Listeria monocytogenes EGD-e sigmaB regulon

artículo científico publicado en 2008

Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?

artículo científico publicado en 2015

The mole genome reveals regulatory rearrangements associated with adaptive intersexuality

artículo científico publicado en 2020

Variants in CUL4B are associated with cerebral malformations

artículo científico publicado en 2015

X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes

artículo científico publicado en 2014

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

scientific journal article

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity

artículo científico publicado en 2013

Lista de obras de Stefan Haas

A DNA microarray for fission yeast: minimal changes in global gene expression after temperature shift

A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia

A global view of gene activity and alternative splicing by deep sequencing of the human transcriptome

A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability

An integrated gene annotation and transcriptional profiling approach towards the full gene content of the Drosophila genome

Analysis of Genes Involved in Body Weight Regulation by Targeted Re-Sequencing

Breakpointer: using local mapping artifacts to support sequence breakpoint discovery from single-end reads

CD74-NRG1 fusions in lung adenocarcinoma

Characterization of hundreds of regulatory landscapes in developing limbs reveals two regimes of chromatin folding

Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation

Comparing active and repressed expression states of genes controlled by the Polycomb/Trithorax group proteins

Comprehensive genomic profiles of small cell lung cancer

CpG-depleted promoters harbor tissue-specific transcription factor binding signals--implications for motif overrepresentation analyses

Customized Oligonucleotide Microarray Gene Expression–Based Classification of Neuroblastoma Patients Outperforms Current Clinical Risk Stratification

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Detecting genomic indel variants with exact breakpoints in single- and paired-end sequencing data using SplazerS.

Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions

EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.

Frequent mutations in chromatin-remodelling genes in pulmonary carcinoids

Functional analysis and identification of cis-regulatory elements of human chromosome 21 gene promoters

Gene identification and analysis of transcripts differentially regulated in fracture healing by EST sequencing in the domestic sheep

GeneNest: automated generation and visualization of gene indices

Genome-Wide Binding of Posterior HOXA/D Transcription Factors Reveals Subgrouping and Association with CTCF.

Genome-scale design of PCR primers and long oligomers for DNA microarrays

Genome-wide RNAi analysis of growth and viability in Drosophila cells

Genome-wide analysis of LXRα activation reveals new transcriptional networks in human atherosclerotic foam cells

Genome-wide comparison of cyanobacterial transposable elements, potential genetic diversity indicators

Genomic and Functional Fidelity of Small Cell Lung Cancer Patient-Derived Xenografts.

Haplotype-resolved sweet potato genome traces back its hexaploidization history

Identification and Classification of Differentially Expressed Genes in Renal Cell Carcinoma by Expression Profiling on a Global Human 31,500-Element cDNA Array ⬇️

Identification of novel fusion genes in lung cancer using breakpoint assembly of transcriptome sequencing data

Identification of novel transcriptional regulators involved in macrophage differentiation and activation in U937 cells

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems

Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer

Integrative genomic profiling of large-cell neuroendocrine carcinomas reveals distinct subtypes of high-grade neuroendocrine lung tumors.

Intronic CA-repeat and CA-rich elements: a new class of regulators of mammalian alternative splicing

Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function.

Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth

Modeling read counts for CNV detection in exome sequencing data

Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing.

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology

Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

New insights into Brunner syndrome and potential for targeted therapy.

Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment

Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family

PASTAA: identifying transcription factors associated with sets of co-regulated genes

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

Prediction of alternative isoforms from exon expression levels in RNA-Seq experiments

Primer design for large scale sequencing.

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features

SYSTERS, GeneNest, SpliceNest: exploring sequence space from genome to protein

Screening of human gene promoter activities using transfected-cell arrays

Strengths and weaknesses of EST-based prediction of tissue-specific alternative splicing

T-STAG: resource and web-interface for tissue-specific transcripts and genes

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability

Temporal transcriptomic analysis of the Listeria monocytogenes EGD-e sigmaB regulon

Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?

The mole genome reveals regulatory rearrangements associated with adaptive intersexuality

Variants in CUL4B are associated with cerebral malformations

X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity