Marc Sturm

Marc Sturm

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Marc Sturm

Marc Sturm

Publications by authors named "Marc Sturm"

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45Publications

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Novel Variants in Patients with Intellectual Disability.

Mol Syndromol 2019 Jul 3;10(4):195-201. Epub 2019 Apr 3.

Institute of Medical Genetics and Applied Genomics, Hertie Institute for Clinical Brain Research, Tübingen, Germany.

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http://dx.doi.org/10.1159/000499060DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6738162PMC
July 2019

Isolated PREPL deficiency associated with congenital myasthenic syndrome-22.

Klin Padiatr 2018 09 18;230(5):281-283. Epub 2018 Jun 18.

Department of General Pediatrics, Heinrich-Heine-University, Duesseldorf, Germany.

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http://dx.doi.org/10.1055/a-0605-3659DOI Listing
September 2018

Novel WNT1 mutations in children with osteogenesis imperfecta: Clinical and functional characterization.

Bone 2018 09 20;114:144-149. Epub 2018 Jun 20.

Shandong Medicinal Biotechnology Centre, Shandong Academy of Medical Sciences, Jinan 250062, China; School of Medicine and Life Sciences, University of Jinan-Shandong Academy of Medical Sciences, Jinan 250200, China. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2018.06.018DOI Listing
September 2018

De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies.

Hum Genet 2018 May 23;137(5):401-411. Epub 2018 May 23.

Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Sigmund-Freud-Str. 25, 53127, Bonn, Germany.

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http://dx.doi.org/10.1007/s00439-018-1892-1DOI Listing
May 2018

Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia.

Neurology 2017 Sep 9;89(10):1043-1049. Epub 2017 Aug 9.

From the Department of Neurology (I.G., T.K.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (I.G., H.J., B.P., T.K.), Bonn; Institute of Medical Genetics and Applied Genomics (F.H., M.S.) and Department of Neurodegenerative Diseases (L.S., M.S.), Hertie-Institute for Clinical Brain Research, University of Tübingen; Department of Neurology (H.J.), Heidelberg University Hospital; Department of Neurology (S.V.), Otto-von-Guericke University Magdeburg; German Center for Neurodegenerative Diseases (DZNE) (S.V., J.M.), Magdeburg; German Center for Neurodegenerative Diseases (DZNE) (L.S., M.S.), Tübingen, Germany; Department of Neurology (C.T., I.M.W.), Oslo University Hospital; Faculty of Medicine (C.T.), Institute of Clinical Medicine, University of Oslo, Norway; Department of Neurology (S.B., A.E.), Medical University Innsbruck, Austria; Department of Neurology (B.v.d.W., J.v.G.), Radboud University Medical Center, Nijmegen, Netherlands; Department of Neurology (C.K., A.D.), University of Rostock; German Center for Neurodegenerative Diseases (DZNE) (C.K., A.D.), Rostock; Department of Neurology (J.-S.K.), University of Frankfurt; Department of Neurology (D.T.), Essen University Hospital, University of Duisburg-Essen, Germany; Institute of Neurology (G.S.), Catholic University of Sacred Heart; SPInal REhabilitation Lab (SPIRE) (M.M.), Fondazione Santa Lucia, IRCCS, Rome, Italy; Department of Neurology (T.K., C.N.), Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich; German Center for Neurodegenerative Diseases (DZNE) (T.K., C.N.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Munich; Department of Neurology (C.G.), University Medical Center Hamburg-Eppendorf (UKE), Germany; Department of Neuroscience and Reproductive and Odontostomatological Sciences (A.F.), Federico II University, Naples, Italy; Centogene AG (P.B.), Rostock, Germany; Pierre Louis Institute of Epidemiology and Public Health (S.T.d.M.), Pierre and Marie Curie University (UPMC); and AP-HP (S.T.d.M.), Biostatistics Unit, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1212/WNL.0000000000004311DOI Listing
September 2017

A comprehensive quality control workflow for paired tumor-normal NGS experiments.

Bioinformatics 2017 Jun;33(11):1721-1722

Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1093/bioinformatics/btx032DOI Listing
June 2017

SeqPurge: highly-sensitive adapter trimming for paired-end NGS data.

BMC Bioinformatics 2016 May 10;17:208. Epub 2016 May 10.

Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1186/s12859-016-1069-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862148PMC
May 2016

Guidelines for diagnostic next-generation sequencing.

Eur J Hum Genet 2016 Jan 28;24(1):2-5. Epub 2015 Oct 28.

University Hospital of Tübingen, Institute of Medical Genetics and Applied Genomics, Tübingen, Germany.

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http://dx.doi.org/10.1038/ejhg.2015.226DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795226PMC
January 2016

Targeted 46-gene and clinical exome sequencing for mutations causing cardiomyopathies.

Mol Cell Probes 2015 Oct 12;29(5):308-14. Epub 2015 May 12.

University Hospital of Tübingen, Department of Cardiology and Cardiovascular Medicine, Tübingen, Germany.

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http://dx.doi.org/10.1016/j.mcp.2015.05.004DOI Listing
October 2015

HBOC multi-gene panel testing: comparison of two sequencing centers.

Breast Cancer Res Treat 2015 Jul 29;152(1):129-136. Epub 2015 May 29.

Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

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http://dx.doi.org/10.1007/s10549-015-3429-9DOI Listing
July 2015

Mutations in CIZ1 are not a major cause for dystonia in Germany.

Mov Disord 2015 Apr 17;30(5):740-3. Epub 2015 Mar 17.

Institute of Medical Genetics and Applied Genomics, Rare Disease Center Tuebingen, University Tuebingen, Germany.

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http://dx.doi.org/10.1002/mds.26198DOI Listing
April 2015

HARVEST, a longitudinal patient record summarizer.

J Am Med Inform Assoc 2015 Mar 28;22(2):263-74. Epub 2014 Oct 28.

Department of Biomedical Informatics, Columbia University, New York, USA.

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http://dx.doi.org/10.1136/amiajnl-2014-002945DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4394965PMC
March 2015

OptiType: precision HLA typing from next-generation sequencing data.

Bioinformatics 2014 Dec 20;30(23):3310-6. Epub 2014 Aug 20.

Applied Bioinformatics, Center for Bioinformatics, Quantitative Biology Center, and Department of Computer Science, University of Tübingen, Institute of Medical Genetics and Applied Genomics, University of Tübingen, and CeGaT GmbH, 72076 Tübingen, Germany.

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http://dx.doi.org/10.1093/bioinformatics/btu548DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4441069PMC
December 2014

Genome-wide UPD screening in patients with intellectual disability.

Eur J Hum Genet 2014 Oct 7;22(10):1233-5. Epub 2014 May 7.

1] Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany [2] Rare Disease Center, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1038/ejhg.2014.63DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4169544PMC
October 2014

Screening of mutations in GNAL in sporadic dystonia patients.

Mov Disord 2014 Aug 9;29(9):1193-6. Epub 2014 Jan 9.

Institute of Medical Genetics and Applied Genomics, Rare Disease Center Tuebingen, University of Tuebingen, Tuebingen, Germany.

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http://dx.doi.org/10.1002/mds.25794DOI Listing
August 2014

UPDtool: a tool for detection of iso- and heterodisomy in parent-child trios using SNP microarrays.

Bioinformatics 2013 Jun 14;29(12):1562-4. Epub 2013 Apr 14.

Department of Medical Genetics, University of Tübingen, Calwerstr. 7, 72076 Tübingen, Germany.

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http://dx.doi.org/10.1093/bioinformatics/btt174DOI Listing
June 2013

An automated pipeline for high-throughput label-free quantitative proteomics.

J Proteome Res 2013 Apr 22;12(4):1628-44. Epub 2013 Feb 22.

Department of Biology, Institute of Molecular Systems Biology, ETH Zürich , 8093 Zürich, Switzerland.

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http://dx.doi.org/10.1021/pr300992uDOI Listing
April 2013

TOPPAS: a graphical workflow editor for the analysis of high-throughput proteomics data.

J Proteome Res 2012 Jul 24;11(7):3914-20. Epub 2012 May 24.

Applied Bioinformatics, Center for Bioinformatics and Quantitative Biology Center, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1021/pr300187fDOI Listing
July 2012

TOPPView: an open-source viewer for mass spectrometry data.

J Proteome Res 2009 Jul;8(7):3760-3

Center for Bioinformatics, Eberhard Karls University Tubingen, Sand 14, 72076 Tubingen, Germany.

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http://dx.doi.org/10.1021/pr900171mDOI Listing
July 2009

OpenMS - an open-source software framework for mass spectrometry.

BMC Bioinformatics 2008 Mar 26;9:163. Epub 2008 Mar 26.

Center for Bioinformatics, Eberhard Karls University Tübingen, Sand 14, 72076 Tübingen, Germany.

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http://dx.doi.org/10.1186/1471-2105-9-163DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2311306PMC
March 2008

A statistical learning approach to the modeling of chromatographic retention of oligonucleotides incorporating sequence and secondary structure data.

Nucleic Acids Res 2007 13;35(12):4195-202. Epub 2007 Jun 13.

Simulation of Biological Systems, Eberhard Karls University, Tübingen, Germany.

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http://dx.doi.org/10.1093/nar/gkm338DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1919494PMC
August 2007

TOPP--the OpenMS proteomics pipeline.

Bioinformatics 2007 Jan;23(2):e191-7

Simulation of Biological Systems, Eberhard Karls University Tübingen Sand 14, 72076 Tübingen, Germany.

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http://dx.doi.org/10.1093/bioinformatics/btl299DOI Listing
January 2007

Structure-activity relationships in chromatography: retention prediction of oligonucleotides with support vector regression.

Angew Chem Int Ed Engl 2006 Oct;45(42):7009-12

Abteilung Simulation biologischer Systeme, Eberhard-Karls-Universität Tübingen, Sand 14, 72076 Tübingen, Germany.

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http://dx.doi.org/10.1002/anie.200602561DOI Listing
October 2006

Absolute myoglobin quantitation in serum by combining two-dimensional liquid chromatography-electrospray ionization mass spectrometry and novel data analysis algorithms.

J Proteome Res 2006 Feb;5(2):414-21

Department of Chemistry, Instrumental Analysis and Bioanalysis, Saarland University, 66123 Saarbrücken, Germany.

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http://dx.doi.org/10.1021/pr050344uDOI Listing
February 2006

Integrative analysis of cancer-related data using CAP.

FASEB J 2004 Sep 1;18(12):1465-7. Epub 2004 Jul 1.

Center for Bioinformatics, Saarland University, Saarbrücken, Germany.

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http://dx.doi.org/10.1096/fj.04-1797fjeDOI Listing
September 2004