Marc Sturm

Marc Sturm

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Marc Sturm

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Genetic basis of neurodevelopmental disorders in 103 Jordanian families.

Authors:
Tawfiq Froukh Omar Nafie Sana' A S Al Hait Lucia Laugwitz Julia Sommerfeld Marc Sturm Aya Baraghiti Tala Issa Anis Al-Nazer Philipp A Koch Johannes Hanselmann Beate Kootz Peter Bauer Wael Al-Ameri Rami Abou Jamra Ayman J Alfrook Moath Hamadallah Linda Sofan Angelika Riess Tobias B Haack Olaf Riess Rebecca Buchert

Clin Genet 2020 Feb 14. Epub 2020 Feb 14.

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

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http://dx.doi.org/10.1111/cge.13720DOI Listing
February 2020

Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.

Authors:
Nicole Weisschuh Marc Sturm Britta Baumann Isabelle Audo Carmen Ayuso Beatrice Bocquet Kari Branham Brian P Brooks Jaume Catalá-Mora Roberto Giorda John R Heckenlively Robert B Hufnagel Samuel G Jacobson Ulrich Kellner Sofia Kitsiou-Tzeli Alexandre Matet Loreto Martorell Sampol Isabelle Meunier Günther Rudolph Dror Sharon Katarina Stingl Berthold Streubel Balázs Varsányi Bernd Wissinger Susanne Kohl

Hum Mutat 2020 Jan 30;41(1):255-264. Epub 2019 Sep 30.

Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1002/humu.23920DOI Listing
January 2020

Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia.

Authors:
Michaela Pogoda Franz-Joachim Hilke Ebba Lohmann Marc Sturm Florian Lenz Jakob Matthes Francesc Muyas Stephan Ossowski Alexander Hoischen Ulrike Faust Ilnaz Sepahi Nicolas Casadei Sven Poths Olaf Riess Christopher Schroeder Kathrin Grundmann

Front Neurol 2019 18;10:1332. Epub 2019 Dec 18.

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

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http://dx.doi.org/10.3389/fneur.2019.01332DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6930228PMC
December 2019

Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.

Authors:
René G Feichtinger Bettina E Mucha Holger Hengel Zakaria Orfi Christine Makowski Junio Dort Guy D'Anjou Thi Tuyet Mai Nguyen Rebecca Buchert Hendrik Juenger Peter Freisinger Sarah Baumeister Benedikt Schoser Uwe Ahting Reinhard Keimer Cam-Tu Emilie Nguyen Paul Fabre Julie Gauthier Marguerite Miguet Fátima Lopes Afnan AlHakeem Amal AlHashem Brahim Tabarki Krishna Kumar Kandaswamy Peter Bauer Peter Steinbacher Holger Prokisch Marc Sturm Tim M Strom Benjamin Ellezam Johannes A Mayr Ludger Schöls Jacques L Michaud Philippe M Campeau Tobias B Haack Nicolas A Dumont

Genet Med 2019 11 16;21(11):2521-2531. Epub 2019 May 16.

CHU Sainte-Justine Research Center, University of Montreal, Montreal, QC, Canada.

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http://dx.doi.org/10.1038/s41436-019-0532-zDOI Listing
November 2019

Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women.

Authors:
Ilnaz Sepahi Ulrike Faust Marc Sturm Kristin Bosse Martin Kehrer Tilman Heinrich Kathrin Grundman-Hauser Peter Bauer Stephan Ossowski Hana Susak Raymonda Varon Evelin Schröck Dieter Niederacher Bernd Auber Christian Sutter Norbert Arnold Eric Hahnen Bernd Dworniczak Shan Wang-Gorke Andrea Gehrig Bernhard H F Weber Christoph Engel Johannes R Lemke Andreas Hartkopf Huu Phuc Nguyen Olaf Riess Christopher Schroeder

BMC Cancer 2019 Aug 8;19(1):787. Epub 2019 Aug 8.

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

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http://dx.doi.org/10.1186/s12885-019-5946-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6686546PMC
August 2019

variants in cause sporadic early-onset progressive sensorimotor neuropathy.

Authors:
Joohyun Park Bianca R Flores Katalin Scherer Hanna Kuepper Mari Rossi Katrin Rupprich Maren Rautenberg Natalie Deininger Annette Weichselbaum Alexander Grimm Marc Sturm Ute Grasshoff Eric Delpire Tobias B Haack

J Med Genet 2019 Aug 22. Epub 2019 Aug 22.

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

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http://dx.doi.org/10.1136/jmedgenet-2019-106273DOI Listing
August 2019

KCNC1-related disorders: new de novo variants expand the phenotypic spectrum.

Authors:
Joohyun Park Mahmoud Koko Ulrike B S Hedrich Andreas Hermann Kirsten Cremer Edda Haberlandt Mona Grimmel Bader Alhaddad Stefanie Beck-Woedl Merle Harrer Daniela Karall Lisa Kingelhoefer Andreas Tzschach Lars C Matthies Tim M Strom Erich Bernd Ringelstein Marc Sturm Hartmut Engels Markus Wolff Holger Lerche Tobias B Haack

Ann Clin Transl Neurol 2019 07 7;6(7):1319-1326. Epub 2019 Jun 7.

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

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http://dx.doi.org/10.1002/acn3.50799DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6649617PMC
July 2019

Novel Variants in Patients with Intellectual Disability.

Authors:
Joohyun Park Roberto Colombo Karin Schäferhoff Luigi Janiri Mona Grimmel Marc Sturm Ute Grasshoff Andreas Dufke Tobias B Haack Martin Kehrer

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

Understanding the role of genetic variability in LRRK2 in Indian population.

Authors:
Asha Kishore Ashwin Ashok Kumar Sreelatha Marc Sturm Felix von-Zweydorf Lasse Pihlstrøm Francesco Raimondi Rob Russell Peter Lichtner Moinak Banerjee Syam Krishnan Roopa Rajan Divya Kalikavil Puthenveedu Sun Ju Chung Peter Bauer Olaf Riess Christian Johannes Gloeckner Rejko Kruger Thomas Gasser Manu Sharma

Mov Disord 2019 04 28;34(4):496-505. Epub 2018 Nov 28.

Centre for Genetic Epidemiology, Institute for Clinical Epidemiology and Applied Biometry, University of Tübingen, Tübingen, Germany.

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http://doi.wiley.com/10.1002/mds.27558
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http://dx.doi.org/10.1002/mds.27558DOI Listing
April 2019

Multi-omics discovery of exome-derived neoantigens in hepatocellular carcinoma.

Authors:
Markus W Löffler Christopher Mohr Leon Bichmann Lena Katharina Freudenmann Mathias Walzer Christopher M Schroeder Nico Trautwein Franz J Hilke Raphael S Zinser Lena Mühlenbruch Daniel J Kowalewski Heiko Schuster Marc Sturm Jakob Matthes Olaf Riess Stefan Czemmel Sven Nahnsen Ingmar Königsrainer Karolin Thiel Silvio Nadalin Stefan Beckert Hans Bösmüller Falko Fend Ana Velic Boris Maček Sebastian P Haen Luigi Buonaguro Oliver Kohlbacher Stefan Stevanović Alfred Königsrainer Hans-Georg Rammensee

Genome Med 2019 04 30;11(1):28. Epub 2019 Apr 30.

Interfaculty Institute for Cell Biology, Department of Immunology, University of Tübingen, Auf der Morgenstelle 15, D-72076, Tübingen, Germany.

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https://genomemedicine.biomedcentral.com/articles/10.1186/s1
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http://dx.doi.org/10.1186/s13073-019-0636-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6492406PMC
April 2019

Loss of NFAT2 expression results in the acceleration of clonal evolution in chronic lymphocytic leukemia.

Authors:
David J Müller Stefan Wirths Alexander R Fuchs Melanie Märklin Jonas S Heitmann Marc Sturm Michael Haap Andreas Kirschniak Yoshiteru Sasaki Lothar Kanz Hans-Georg Kopp Martin R Müller

J Leukoc Biol 2019 03 17;105(3):531-538. Epub 2018 Dec 17.

Department of Oncology, Hematology and Immunology, University of Tübingen, Tübingen, Germany.

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http://doi.wiley.com/10.1002/JLB.2AB0218-076RR
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http://dx.doi.org/10.1002/JLB.2AB0218-076RRDOI Listing
March 2019

Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease - a new type of neuronal ceroid lipofuscinosis (CLN15)?

Authors:
Stefanie Beck-Wödl Klaus Harzer Marc Sturm Rebecca Buchert Olaf Rieß Hans-Dieter Mennel Elisabeth Latta Axel Pagenstecher Ursula Keber

Acta Neuropathol Commun 2018 12 27;6(1):145. Epub 2018 Dec 27.

Department of Neuropathology, Philipps University and University Hospital of Marburg, Baldingerstrasse, 35043, Marburg, Germany.

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https://actaneurocomms.biomedcentral.com/articles/10.1186/s4
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http://dx.doi.org/10.1186/s40478-018-0646-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6307319PMC
December 2018

Isolated PREPL deficiency associated with congenital myasthenic syndrome-22.

Authors:
Lucia Laugwitz Silke Redler Rebecca Buchert Marc Sturm Irene Zeile Ulrike Schara Dagmar Wieczorek Tobias Haack Felix Distelmaier

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.

Authors:
Yanqin Lu Xiuzhi Ren Yanzhou Wang Ghalib Bardai Marc Sturm Yunzhang Dai Olaf Riess Yao Zhang Hu Li Tianyou Li Naixiang Zhai Jian Zhang Frank Rauch Jinxiang Han

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

Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity.

Authors:
Judith Penkert Gunnar Schmidt Winfried Hofmann Stephanie Schubert Maximilian Schieck Bernd Auber Tim Ripperger Karl Hackmann Marc Sturm Holger Prokisch Ursula Hille-Betz Dorothea Mark Thomas Illig Brigitte Schlegelberger Doris Steinemann

Breast Cancer Res 2018 08 7;20(1):87. Epub 2018 Aug 7.

Department of Human Genetics, Hannover Medical School, Carl-Neuberg-Strasse 1, 30625, Hannover, Germany.

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http://dx.doi.org/10.1186/s13058-018-1011-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6081832PMC
August 2018

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

Authors:
Daniel Fritzen Alma Kuechler Mona Grimmel Jessica Becker Sophia Peters Marc Sturm Hela Hundertmark Axel Schmidt Martina Kreiß Tim M Strom Dagmar Wieczorek Tobias B Haack Stefanie Beck-Wödl Kirsten Cremer Hartmut Engels

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

Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.

Authors:
Tiong Yang Tan Claudia Gonzaga-Jauregui Elizabeth J Bhoj Kevin A Strauss Karlla Brigatti Erik Puffenberger Dong Li LiQin Xie Nanditha Das Ioanna Skubas Ron A Deckelbaum Virginia Hughes Susannah Brydges Sarah Hatsell Chia-Jen Siao Melissa G Dominguez Aris Economides John D Overton Valerie Mayne Peter J Simm Bryn O Jones Stefanie Eggers Gwenaël Le Guyader Fanny Pelluard Tobias B Haack Marc Sturm Angelika Riess Stephan Waldmueller Michael Hofbeck Katharina Steindl Pascal Joset Anita Rauch Hakon Hakonarson Naomi L Baker Peter G Farlie

Am J Hum Genet 2017 Dec 30;101(6):985-994. Epub 2017 Nov 30.

Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.

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http://dx.doi.org/10.1016/j.ajhg.2017.10.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5812889PMC
December 2017

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

Authors:
Ilaria Giordano Florian Harmuth Heike Jacobi Brigitte Paap Stefan Vielhaber Judith Machts Ludger Schöls Matthis Synofzik Marc Sturm Chantal Tallaksen Iselin M Wedding Sylvia Boesch Andreas Eigentler Bart van de Warrenburg Judith van Gaalen Christoph Kamm Ales Dudesek Jun-Suk Kang Dagmar Timmann Gabriella Silvestri Marcella Masciullo Thomas Klopstock Christiane Neuhofer Christos Ganos Alessandro Filla Peter Bauer Sophie Tezenas du Montcel Thomas Klockgether

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.

Authors:
Christopher M Schroeder Franz J Hilke Markus W Löffler Michael Bitzer Florian Lenz Marc Sturm

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

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.

Authors:
Martina Minnerop Delia Kurzwelly Holger Wagner Anne S Soehn Jennifer Reichbauer Feifei Tao Tim W Rattay Michael Peitz Kristina Rehbach Alejandro Giorgetti Angela Pyle Holger Thiele Janine Altmüller Dagmar Timmann Ilker Karaca Martina Lennarz Jonathan Baets Holger Hengel Matthis Synofzik Burcu Atasu Shawna Feely Marina Kennerson Claudia Stendel Tobias Lindig Michael A Gonzalez Rüdiger Stirnberg Marc Sturm Sandra Roeske Johanna Jung Peter Bauer Ebba Lohmann Stefan Herms Stefanie Heilmann-Heimbach Garth Nicholson Muhammad Mahanjah Rajech Sharkia Paolo Carloni Oliver Brüstle Thomas Klopstock Katherine D Mathews Michael E Shy Peter de Jonghe Patrick F Chinnery Rita Horvath Jürgen Kohlhase Ina Schmitt Michael Wolf Susanne Greschus Katrin Amunts Wolfgang Maier Ludger Schöls Peter Nürnberg Stephan Zuchner Thomas Klockgether Alfredo Ramirez Rebecca Schüle

Brain 2017 06;140(6):1561-1578

Center for Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.

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http://dx.doi.org/10.1093/brain/awx095DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6402316PMC
June 2017

Erratum to "Personalized peptide vaccine-induced immune response associated with long-term survival of a metastatic cholangiocarcinoma patient".

Authors:
Markus W Löffler P Anoop Chandran Karoline Laske Christopher Schroeder Irina Bonzheim Mathias Walzer Franz J Hilke Nico Trautwein Daniel J Kowalewski Heiko Schuster Marc Günder Viviana A Carcamo Yañez Christopher Mohr Marc Sturm Huu-Phuc Nguyen Olaf Riess Peter Bauer Sven Nahnsen Silvio Nadalin Derek Zieker Jörg Glatzle Karolin Thiel Nicole Schneiderhan-Marra Stephan Clasen Hans Bösmüller Falko Fend Oliver Kohlbacher Cécile Gouttefangeas Stefan Stevanović Alfred Königsrainer Hans-Georg Rammensee

J Hepatol 2017 01 15;66(1):252-253. Epub 2016 Nov 15.

University of Tübingen, Interfaculty Institute for Cell Biology, Department of Immunology, Auf der Morgenstelle 15, 72076 Tübingen, Germany; German Cancer Consortium (DKTK) and German Cancer Research Center (DKFZ) partner site, Tübingen, Germany.

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http://dx.doi.org/10.1016/j.jhep.2016.10.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6880294PMC
January 2017

Personalized peptide vaccine-induced immune response associated with long-term survival of a metastatic cholangiocarcinoma patient.

Authors:
Markus W Löffler P Anoop Chandran Karoline Laske Christopher Schroeder Irina Bonzheim Mathias Walzer Franz J Hilke Nico Trautwein Daniel J Kowalewski Heiko Schuster Marc Günder Viviana A Carcamo Yañez Christopher Mohr Marc Sturm Huu-Phuc Nguyen Olaf Riess Peter Bauer Sven Nahnsen Silvio Nadalin Derek Zieker Jörg Glatzle Karolin Thiel Nicole Schneiderhan-Marra Stephan Clasen Hans Bösmüller Falko Fend Oliver Kohlbacher Cécile Gouttefangeas Stefan Stevanović Alfred Königsrainer Hans-Georg Rammensee

J Hepatol 2016 10 7;65(4):849-855. Epub 2016 Jul 7.

University of Tübingen, Interfaculty Institute for Cell Biology, Department of Immunology, Auf der Morgenstelle 15, 72076 Tübingen, Germany; German Cancer Consortium (DKTK) and German Cancer Research Center (DKFZ) partner site Tübingen, Germany.

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http://dx.doi.org/10.1016/j.jhep.2016.06.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5756536PMC
October 2016

Guidelines for diagnostic next-generation sequencing.

Authors:
Gert Matthijs Erika Souche Mariëlle Alders Anniek Corveleyn Sebastian Eck Ilse Feenstra Valérie Race Erik Sistermans Marc Sturm Marjan Weiss Helger Yntema Egbert Bakker Hans Scheffer Peter Bauer

Eur J Hum Genet 2016 10;24(10):1515

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http://dx.doi.org/10.1038/ejhg.2016.63DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5027692PMC
October 2016

SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.

Authors:
Matthis Synofzik Katrien Smets Martial Mallaret Daniela Di Bella Constanze Gallenmüller Jonathan Baets Martin Schulze Stefania Magri Elisa Sarto Mona Mustafa Tine Deconinck Tobias Haack Stephan Züchner Michael Gonzalez Dagmar Timmann Claudia Stendel Thomas Klopstock Alexandra Durr Christine Tranchant Marc Sturm Wahiba Hamza Lorenzo Nanetti Caterina Mariotti Michel Koenig Ludger Schöls Rebecca Schüle Peter de Jonghe Mathieu Anheim Franco Taroni Peter Bauer

Brain 2016 05 17;139(Pt 5):1378-93. Epub 2016 Apr 17.

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

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http://dx.doi.org/10.1093/brain/aww079DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6363274PMC
May 2016

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

Authors:
Marc Sturm Christopher Schroeder Peter Bauer

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.

Authors:
Gert Matthijs Erika Souche Mariëlle Alders Anniek Corveleyn Sebastian Eck Ilse Feenstra Valérie Race Erik Sistermans Marc Sturm Marjan Weiss Helger Yntema Egbert Bakker Hans Scheffer Peter Bauer

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

Next-generation sequencing in X-linked intellectual disability.

Authors:
Andreas Tzschach Ute Grasshoff Stefanie Beck-Woedl Claudia Dufke Claudia Bauer Martin Kehrer Christina Evers Ute Moog Barbara Oehl-Jaschkowitz Nataliya Di Donato Robert Maiwald Christine Jung Alma Kuechler Solveig Schulz Peter Meinecke Stephanie Spranger Jürgen Kohlhase Jörg Seidel Silke Reif Manuela Rieger Angelika Riess Marc Sturm Julia Bickmann Christopher Schroeder Andreas Dufke Olaf Riess Peter Bauer

Eur J Hum Genet 2015 Nov 4;23(11):1513-8. Epub 2015 Feb 4.

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

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http://dx.doi.org/10.1038/ejhg.2015.5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4613482PMC
November 2015

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

Authors:
Stephan Waldmüller Christopher Schroeder Marc Sturm Thomas Scheffold Kerstin Imbrich Sandra Junker Christian Frische Michael Hofbeck Peter Bauer Michael Bonin Meinrad Gawaz Michael Gramlich

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.

Authors:
Christopher Schroeder Ulrike Faust Marc Sturm Karl Hackmann Kathrin Grundmann Florian Harmuth Kristin Bosse Martin Kehrer Tanja Benkert Barbara Klink Luisa Mackenroth Elitza Betcheva-Krajcir Pauline Wimberger Karin Kast Mechthilde Heilig Huu Phuc Nguyen Olaf Riess Evelin Schröck Peter Bauer Andreas Rump

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.

Authors:
Claudia Dufke Ann-Kathrin Hauser Marc Sturm Susanne Fluhr Tobias Wächter Barbara Leube Georg Auburger Thomas Ott Peter Bauer Thomas Gasser Kathrin Grundmann

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.

Authors:
Jamie S Hirsch Jessica S Tanenbaum Sharon Lipsky Gorman Connie Liu Eric Schmitz Dritan Hashorva Artem Ervits David Vawdrey Marc Sturm Noémie Elhadad

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.

Authors:
András Szolek Benjamin Schubert Christopher Mohr Marc Sturm Magdalena Feldhahn Oliver Kohlbacher

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.

Authors:
Christopher Schroeder Arif Bülent Ekici Ute Moog Ute Grasshoff Ulrike Mau-Holzmann Marc Sturm Vanessa Vosseler Sven Poths Gudrun Rappold Angelika Riess Olaf Riess Andreas Dufke Michael Bonin

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.

Authors:
Claudia Dufke Marc Sturm Christopher Schroeder Susanne Moll Thomas Ott Olaf Riess Peter Bauer Kathrin Grundmann

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.

Authors:
Christopher Schroeder Marc Sturm Andreas Dufke Ulrike Mau-Holzmann Thomas Eggermann Sven Poths Olaf Riess Michael Bonin

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.

Authors:
Hendrik Weisser Sven Nahnsen Jonas Grossmann Lars Nilse Andreas Quandt Hendrik Brauer Marc Sturm Erhan Kenar Oliver Kohlbacher Ruedi Aebersold Lars Malmström

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.

Authors:
Johannes Junker Chris Bielow Andreas Bertsch Marc Sturm Knut Reinert Oliver Kohlbacher

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

mzML--a community standard for mass spectrometry data.

Authors:
Lennart Martens Matthew Chambers Marc Sturm Darren Kessner Fredrik Levander Jim Shofstahl Wilfred H Tang Andreas Römpp Steffen Neumann Angel D Pizarro Luisa Montecchi-Palazzi Natalie Tasman Mike Coleman Florian Reisinger Puneet Souda Henning Hermjakob Pierre-Alain Binz Eric W Deutsch

Mol Cell Proteomics 2011 Jan 17;10(1):R110.000133. Epub 2010 Aug 17.

Department of Medical Protein Research, VIB, B-9000 Ghent, Belgium.

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http://dx.doi.org/10.1074/mcp.R110.000133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3013463PMC
January 2011

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

Authors:
Marc Sturm Oliver Kohlbacher

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.

Authors:
Marc Sturm Andreas Bertsch Clemens Gröpl Andreas Hildebrandt Rene Hussong Eva Lange Nico Pfeifer Ole Schulz-Trieglaff Alexandra Zerck Knut Reinert Oliver Kohlbacher

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.

Authors:
Marc Sturm Sascha Quinten Christian G Huber Oliver Kohlbacher

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.

Authors:
Oliver Kohlbacher Knut Reinert Clemens Gröpl Eva Lange Nico Pfeifer Ole Schulz-Trieglaff Marc Sturm

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.

Authors:
Oliver Kohlbacher Sascha Quinten Marc Sturm Bettina M Mayr Christian G Huber

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.

Authors:
Bettina M Mayr Oliver Kohlbacher Knut Reinert Marc Sturm Clemens Gröpl Eva Lange Christoph Klein Christian G Huber

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.

Authors:
Pierre Dönnes Annette Höglund Marc Sturm Nicole Comtesse Christina Backes Eckart Meese Oliver Kohlbacher Hans-Peter Lenhof

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