List of works - Stefan Haas

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

scientific article published in January 2004

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

scientific article published on 19 August 2015

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

scientific article (publication date: 15 August 2008)

A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability

scientific article

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

scientific article

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

scientific article published in February 2016

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

scientific article published in February 2012

CD74-NRG1 fusions in lung adenocarcinoma

scientific article published on 27 January 2014

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

scientific article published on 6 December 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

scholarly article

Comprehensive genomic profiles of small cell lung cancer

scientific article published on 13 July 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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 5 January 2017

Frequent mutations in chromatin-remodelling genes in pulmonary carcinoids

scientific article

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

scientific article

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

scientific article published on 5 July 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.

scientific article

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

scientific article published on October 2003

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

scientific article

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

scientific article published on 7 February 2013

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

scientific article

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

scientific article published on 26 February 2018

Haplotype-resolved sweet potato genome traces back its hexaploidization history

scientific article published on 21 August 2017

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

scientific article published on November 1, 2001

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

scientific article

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

scientific article

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

scientific article published on 6 October 2015

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

scientific article

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

scientific article published on 13 March 2018

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

scientific article

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

scientific article published on 8 May 2014

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

scientific article published on 24 April 2013

Modeling read counts for CNV detection in exome sequencing data

scientific article

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

scientific article published on December 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

scientific article

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

scientific article

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

scientific article (publication date: December 2003)

New insights into Brunner syndrome and potential for targeted therapy.

scientific article published on 23 March 2015

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

scientific article

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

scientific article

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

scientific article published on 09 December 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

scientific article

Primer design for large scale sequencing.

scientific article published on June 1998

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

scientific article

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

scientific article published on January 2002

Screening of human gene promoter activities using transfected-cell arrays

scientific article published on January 2010

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 11 September 2015

The mole genome reveals regulatory rearrangements associated with adaptive intersexuality

scientific article

Variants in CUL4B are associated with cerebral malformations

scientific article

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

scientific article

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

scientific article

List of works by 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