Stefan A Haas

Stefan A Haas

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Stefan A Haas

Stefan A Haas

Publications by authors named "Stefan A Haas"

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

Am J Med Genet A 2016 Jan 11;170A(1):94-102. Epub 2015 Sep 11.

Institut fuer Klinische Genetik, Medizinische Fakultaet Carl Gustav Carus, Technische Universitaet Dresden, Dresden, Germany.

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http://dx.doi.org/10.1002/ajmg.a.37378DOI Listing
January 2016

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

Am J Hum Genet 2015 Aug 9;97(2):302-10. Epub 2015 Jul 9.

School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia; School of Molecular and Biomedical Sciences, University of Adelaide, Adelaide, SA 5005, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.05.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573269PMC
August 2015

Comprehensive genomic profiles of small cell lung cancer.

Nature 2015 Aug 13;524(7563):47-53. Epub 2015 Jul 13.

1] Department of Translational Genomics, Center of Integrated Oncology Cologne-Bonn, Medical Faculty, University of Cologne, 50931 Cologne, Germany. [2] Department of Pathology, University Hospital Cologne, 50937 Cologne, Germany.

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http://dx.doi.org/10.1038/nature14664DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4861069PMC
August 2015

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

Am J Hum Genet 2015 Aug 30;97(2):343-52. Epub 2015 Jul 30.

Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

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https://clinicforspecialchildren.org/wp-content/uploads/2015
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http://linkinghub.elsevier.com/retrieve/pii/S000292971500280
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http://dx.doi.org/10.1016/j.ajhg.2015.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573244PMC
August 2015

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

Cell 2015 May 7;161(5):1012-1025. Epub 2015 May 7.

Max Planck Institute for Molecular Genetics, RG Development & Disease, 14195 Berlin, Germany; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité Universitätsmedizin Berlin, 13353 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2015.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4791538PMC
May 2015

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

J Med Genet 2014 Jul 8;51(7):487-94. Epub 2014 May 8.

Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands Nijmegen Centre for Molecular Life Sciences, Institute for Genetic and Metabolic Diseases, Radboud university medical center, Nijmegen, The Netherlands.

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2013-102182
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http://dx.doi.org/10.1136/jmedgenet-2013-102182DOI Listing
July 2014

CD74-NRG1 fusions in lung adenocarcinoma.

Cancer Discov 2014 Apr 27;4(4):415-22. Epub 2014 Jan 27.

1Department of Translational Genomics; 2Department I of Internal Medicine; 3Laboratory of Translational Cancer Genomics; 4Network Genomic Medicine, University Hospital Cologne, Center of Integrated Oncology Cologne-Bonn; 5Center for Molecular Medicine Cologne (CMMC); 6Cologne Center for Genomics (CCG); 7Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD); 8Department of Pathology, University Hospital Medical Center, University of Cologne; 9Blackfield AG; 10Max Planck Institute for Neurological Research; 11Thoracic Surgery, Lungenklinik Merheim, Kliniken der Stadt Köln gGmbH; 12Institute of Human Genetics, Cologne; 13Computational Molecular Biology Department, Max Planck Institute for Molecular Genetics, Berlin; 14Department of Prostate Cancer Research, Institute of Pathology; 15Institute for Clinical Chemistry and Clinical Pharmacology, University Hospital Bonn, Bonn; 16Institute of Pathology; 17Department of Internal Medicine II, Jena University Hospital, Friedrich-Schiller-University, Jena; 18Institute for Pathology Bad Berka, Bad Berka, Germany;19Division of Molecular Oncology, Aichi Cancer Center Research Institute; 20Department of Pathology and Molecular Diagnostics, Aichi Cancer Center, Nagoya, Japan; Departments of 21Surgery and22Pathology, St. Vincent's Hospital; 23Department of Haematology and Medical Oncology, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia;24Department of Pathology, 25CHU Grenoble Institut National de la Santé et de la Recherche Medicale (INSERM) U823, Institute Albert Bonniot, Grenoble-Alpes University, Grenoble, France; 26Laboratory of Oncology IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo; 27Laboratory for Molecular Medicine and Biotechnology, University Campus Bio-Medico, Rome, Italy; 28Center for the Biology of Disease, VIB, Leuven; and 29Oncology Discovery, Janssen Research and Development, A Division of Janssen Pharmaceutica NV, Beerse, Belgium.

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http://dx.doi.org/10.1158/2159-8290.CD-13-0633DOI Listing
April 2014

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

Am J Med Genet A 2013 Dec 16;161A(12):3063-71. Epub 2013 Aug 16.

Service de Génétique and Centre de Référence des Anomalies du Développement, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Lyon, France; INSERM U1028, CNRS, UMR5292, Lyon Neuroscience Research Center, TIGER Team, University Claude Bernard Lyon 1, Université de Lyon, Lyon, France.

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http://dx.doi.org/10.1002/ajmg.a.36162DOI Listing
December 2013

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

Bioinformatics 2012 Apr 1;28(7):1024-5. Epub 2012 Feb 1.

Department of Computational Molecular Biology, Max-Planck-Institute for Molecular Genetics, Ihnestr. 63-73, 14195 Berlin, Germany.

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http://dx.doi.org/10.1093/bioinformatics/bts064DOI Listing
April 2012

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

Bioinformatics 2012 Mar 11;28(5):619-27. Epub 2012 Jan 11.

Department of Computer Science, Freie Universität Berlin, Takustrasse 9, Max-Planck-Institute for Molecular Genetics, Berlin, Germany.

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http://dx.doi.org/10.1093/bioinformatics/bts019DOI Listing
March 2012

Modeling read counts for CNV detection in exome sequencing data.

Stat Appl Genet Mol Biol 2011 Nov 8;10(1). Epub 2011 Nov 8.

Max Planck Institute for Molecular Genetics.

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http://dx.doi.org/10.2202/1544-6115.1732DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3517018PMC
November 2011

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

Nucleic Acids Res 2010 Oct 21;38(18):6112-23. Epub 2010 May 21.

Department for Vertebrate Genomics, Max Planck Institute for Molecular Genetics, Ihnestrasse 63-73, 14195 Berlin, Germany.

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http://dx.doi.org/10.1093/nar/gkq402DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2952857PMC
October 2010

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

Nucleic Acids Res 2010 Jun 11;38(10):e112. Epub 2010 Feb 11.

Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Ihnestr 73, 14195 Berlin, Germany.

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http://dx.doi.org/10.1093/nar/gkq041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2879520PMC
June 2010

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

Nucleic Acids Res 2009 Oct 6;37(19):6305-15. Epub 2009 Sep 6.

Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin.

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http://dx.doi.org/10.1093/nar/gkp682DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2770660PMC
October 2009

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

Bioinformatics 2009 Feb 9;25(4):435-42. Epub 2008 Dec 9.

Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin.

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https://academic.oup.com/bioinformatics/article-lookup/doi/1
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http://dx.doi.org/10.1093/bioinformatics/btn627DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2642637PMC
February 2009

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

Proc Natl Acad Sci U S A 2007 Oct 5;104(42):16615-20. Epub 2007 Oct 5.

Zentrum für Molekulare Biologie der Universität Heidelberg (ZMBH), Im Neuenheimer Feld 282, D-69120 Heidelberg, Germany.

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http://dx.doi.org/10.1073/pnas.0701538104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2001164PMC
October 2007

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

Nucleic Acids Res 2005 Jul;33(Web Server issue):W654-8

Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Ihnestrasse 63-73, D-14195 Berlin, Germany.

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http://dx.doi.org/10.1093/nar/gki350DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1160111PMC
July 2005

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

BMC Genomics 2004 Sep 28;5:72. Epub 2004 Sep 28.

Max Planck Institute for Molecular Genetics, Ihnestr, 73, D-14195 Berlin, Germany.

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http://dx.doi.org/10.1186/1471-2164-5-72DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC521684PMC
September 2004

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

Nucleic Acids Res 2003 Oct;31(19):5576-81

Department of Computational Molecular Biology, Max-Planck-Institute for Molecular Genetics, Ihnestrasse 73, D-14195 Berlin, Germany.

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http://nar.oxfordjournals.org/content/31/19/5576.full.pdf
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC206452PMC
http://dx.doi.org/10.1093/nar/gkg752DOI Listing
October 2003

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

Nucleic Acids Res 2002 Jan;30(1):299-300

Max-Planck-Institute for Molecular Genetics, Computational Molecular Biology, Ihnestrasse 73, 14195 Berlin, Germany.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC99107PMC
http://dx.doi.org/10.1093/nar/30.1.299DOI Listing
January 2002