Andreas Rump

Andreas Rump

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Andreas Rump

Andreas Rump

Publications by authors named "Andreas Rump"

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Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Authors:
Michael T Parsons Emma Tudini Hongyan Li Eric Hahnen Barbara Wappenschmidt Lidia Feliubadaló Cora M Aalfs Simona Agata Kristiina Aittomäki Elisa Alducci María Concepción Alonso-Cerezo Norbert Arnold Bernd Auber Rachel Austin Jacopo Azzollini Judith Balmaña Elena Barbieri Claus R Bartram Ana Blanco Britta Blümcke Sandra Bonache Bernardo Bonanni Åke Borg Beatrice Bortesi Joan Brunet Carla Bruzzone Karolin Bucksch Giulia Cagnoli Trinidad Caldés Almuth Caliebe Maria A Caligo Mariarosaria Calvello Gabriele L Capone Sandrine M Caputo Ileana Carnevali Estela Carrasco Virginie Caux-Moncoutier Pietro Cavalli Giulia Cini Edward M Clarke Paola Concolino Elisa J Cops Laura Cortesi Fergus J Couch Esther Darder Miguel de la Hoya Michael Dean Irmgard Debatin Jesús Del Valle Capucine Delnatte Nicolas Derive Orland Diez Nina Ditsch Susan M Domchek Véronique Dutrannoy Diana M Eccles Hans Ehrencrona Ute Enders D Gareth Evans Ulrike Faust Ute Felbor Irene Feroce Miriam Fine Henrique C R Galvao Gaetana Gambino Andrea Gehrig Francesca Gensini Anne-Marie Gerdes Aldo Germani Jutta Giesecke Viviana Gismondi Carolina Gómez Encarna B Gómez Garcia Sara González Elia Grau Sabine Grill Eva Gross Aliana Guerrieri-Gonzaga Marine Guillaud-Bataille Sara Gutiérrez-Enríquez Thomas Haaf Karl Hackmann Thomas V O Hansen Marion Harris Jan Hauke Tilman Heinrich Heide Hellebrand Karen N Herold Ellen Honisch Judit Horvath Claude Houdayer Verena Hübbel Silvia Iglesias Angel Izquierdo Paul A James Linda A M Janssen Udo Jeschke Silke Kaulfuß Katharina Keupp Marion Kiechle Alexandra Kölbl Sophie Krieger Torben A Kruse Anders Kvist Fiona Lalloo Mirjam Larsen Vanessa L Lattimore Charlotte Lautrup Susanne Ledig Elena Leinert Alexandra L Lewis Joanna Lim Markus Loeffler Adrià López-Fernández Emanuela Lucci-Cordisco Nicolai Maass Siranoush Manoukian Monica Marabelli Laura Matricardi Alfons Meindl Rodrigo D Michelli Setareh Moghadasi Alejandro Moles-Fernández Marco Montagna Gemma Montalban Alvaro N Monteiro Eva Montes Luigi Mori Lidia Moserle Clemens R Müller Christoph Mundhenke Nadia Naldi Katherine L Nathanson Matilde Navarro Heli Nevanlinna Cassandra B Nichols Dieter Niederacher Henriette R Nielsen Kai-Ren Ong Nicholas Pachter Edenir I Palmero Laura Papi Inge Sokilde Pedersen Bernard Peissel Pedro Pérez-Segura Katharina Pfeifer Marta Pineda Esther Pohl-Rescigno Nicola K Poplawski Berardino Porfirio Anne S Quante Juliane Ramser Rui M Reis Françoise Revillion Kerstin Rhiem Barbara Riboli Julia Ritter Daniela Rivera Paula Rofes Andreas Rump Monica Salinas Ana María Sánchez de Abajo Gunnar Schmidt Ulrike Schoenwiese Jochen Seggewiß Ares Solanes Doris Steinemann Mathias Stiller Dominique Stoppa-Lyonnet Kelly J Sullivan Rachel Susman Christian Sutter Sean V Tavtigian Soo H Teo Alex Teulé Mads Thomassen Maria Grazia Tibiletti Silvia Tognazzo Amanda E Toland Eva Tornero Therese Törngren Sara Torres-Esquius Angela Toss Alison H Trainer Christi J van Asperen Marion T van Mackelenbergh Liliana Varesco Gardenia Vargas-Parra Raymonda Varon Ana Vega Ángela Velasco Anne-Sophie Vesper Alessandra Viel Maaike P G Vreeswijk Sebastian A Wagner Anke Waha Logan C Walker Rhiannon J Walters Shan Wang-Gohrke Bernhard H F Weber Wilko Weichert Kerstin Wieland Lisa Wiesmüller Isabell Witzel Achim Wöckel Emma R Woodward Silke Zachariae Valentina Zampiga Christine Zeder-Göß Conxi Lázaro Arcangela De Nicolo Paolo Radice Christoph Engel Rita K Schmutzler David E Goldgar Amanda B Spurdle

Hum Mutat 2019 May 27. Epub 2019 May 27.

Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1002/humu.23818DOI Listing
May 2019

Novel truncating PPM1D mutation in a patient with intellectual disability.

Eur J Med Genet 2019 Jan 11;62(1):70-72. Epub 2018 May 11.

Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstraße 74, 01307 Dresden, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.05.006DOI Listing
January 2019

A frameshift mutation in BRCA1 leads to hereditary breast and ovarian cancer in one part of a family and to familial pancreatic cancer in another.

Breast Cancer Res Treat 2018 01 12;167(1):305-307. Epub 2017 Sep 12.

Core Unit for Molecular Tumordiagnostics (CMTD), National Center for Tumor Diseases (NCT) partner site, Dresden, Germany.

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http://dx.doi.org/10.1007/s10549-017-4500-5DOI Listing
January 2018

BRCA1/2 missense mutations and the value of in-silico analyses.

Eur J Med Genet 2017 Nov 12;60(11):572-577. Epub 2017 Aug 12.

Department of Gynecology and Obstetrics, Medical Faculty and University Hospital Carl Gustav Carus, Technische Universität Dresden, Germany; National Center for Tumor Diseases (NCT), Partner Site Dresden, Germany; German Cancer Consortium (DKTK), Dresden and German Cancer Research Center (DKFZ), Heidelberg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.08.005DOI Listing
November 2017

Pierpont syndrome: report of a new patient.

Clin Dysmorphol 2017 Oct;26(4):205-208

aInstitute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Dresden bDepartment of Congenital Heart Disease and Pediatric Cardiology, Universitätsklinikum Schleswig-Holstein Kiel, Kiel cMitteldeutscher Praxisverbund Humangenetik, Praxis Erfurt, Erfurt, Germany.

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http://dx.doi.org/10.1097/MCD.0000000000000184DOI Listing
October 2017

Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.

Am J Med Genet A 2017 Sep 4;173(9):2545-2550. Epub 2017 Aug 4.

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

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http://dx.doi.org/10.1002/ajmg.a.38348DOI Listing
September 2017

New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy.

Hum Mol Genet 2017 08;26(15):2923-2932

Department of Pharmacology and Toxicology Center for Molecular Biosciences, University of Innsbruck, 6020 Innsbruck, Austria.

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http://dx.doi.org/10.1093/hmg/ddx175DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886262PMC
August 2017

The contribution of homology arms to nuclease-assisted genome engineering.

Nucleic Acids Res 2017 Jul;45(13):8105-8115

Genomics, Biotechnology Center, Technische Universität Dresden, BioInnovationsZentrum, Tatzberg 47, Dresden 01307, Germany.

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http://dx.doi.org/10.1093/nar/gkx497DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5570031PMC
July 2017

Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study.

Arch Gynecol Obstet 2017 May 21;295(5):1227-1238. Epub 2017 Mar 21.

Department of Gynecology and Obstetrics, Medical Faculty and University Hospital Carl Gustav Carus, Technische Universität Dresden, Fetscherstrasse 74, Dresden, 01307, Germany.

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http://dx.doi.org/10.1007/s00404-017-4330-zDOI Listing
May 2017

Ready to clone: CNV detection and breakpoint fine-mapping in breast and ovarian cancer susceptibility genes by high-resolution array CGH.

Breast Cancer Res Treat 2016 Oct 31;159(3):585-90. Epub 2016 Aug 31.

Institut fuer Klinische Genetik, Medizinische Fakultaet Carl Gustav Carus, Technische Universitaet Dresden, Fetscherstr. 74, 01307, Dresden, Germany.

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http://dx.doi.org/10.1007/s10549-016-3956-zDOI Listing
October 2016

Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type I.

Clin Dysmorphol 2016 Jul;25(3):106-9

aInstitute for Clinical Genetics, Medical Faculty Carl Gustav Carus, Technical University of Dresden bUniversity Center for Rare Diseases, University Clinic Carl Gustav Carus, Dresden cMitteldeutscher Praxisverbund for Human Genetics, Practice in Meerane, Meerane, Germany.

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http://dx.doi.org/10.1097/MCD.0000000000000124DOI Listing
July 2016

An unusual case of Cowden syndrome associated with ganglioneuromatous polyposis.

Hered Cancer Clin Pract 2016 10;14:11. Epub 2016 May 10.

Department of Surgical Research, Technische Universität Dresden, Fetscherstr. 74, Dresden, 01307 Germany.

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http://dx.doi.org/10.1186/s13053-016-0051-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862217PMC
May 2016

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

A child with Li-Fraumeni syndrome: Modes to inactivate the second allele of TP53 in three different malignancies.

Pediatr Blood Cancer 2015 Aug 18;62(8):1481-4. Epub 2015 Mar 18.

Department of Pediatric Hematology and Oncology, University Hospital Dresden, Germany.

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http://dx.doi.org/10.1002/pbc.25486DOI Listing
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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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

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

Severe intellectual disability, West syndrome, Dandy-Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3.

Am J Med Genet A 2013 Dec 16;161A(12):3144-9. Epub 2013 Aug 16.

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

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http://dx.doi.org/10.1002/ajmg.a.36155DOI Listing
December 2013

A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring.

Eur J Hum Genet 2013 Aug 12;21(8):887-90. Epub 2012 Dec 12.

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

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http://dx.doi.org/10.1038/ejhg.2012.267DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722677PMC
August 2013

Partial deletion of GLRB and GRIA2 in a patient with intellectual disability.

Eur J Hum Genet 2013 Jan 6;21(1):112-4. Epub 2012 Jun 6.

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

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http://dx.doi.org/10.1038/ejhg.2012.97DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3522202PMC
January 2013

A misplaced lncRNA causes brachydactyly in humans.

J Clin Invest 2012 Nov 24;122(11):3990-4002. Epub 2012 Oct 24.

Experimental and Clinical Research Center, joint cooperation between Charité Medical Faculty and Max Delbrück Center for Molecular Medicine, Berlin, Germany.

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http://dx.doi.org/10.1172/JCI65508DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3485082PMC
November 2012

A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation.

Invest Ophthalmol Vis Sci 2011 Feb 3;52(2):695-700. Epub 2011 Feb 3.

Institute of Clinical Genetics, Dresden, Germany.

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http://dx.doi.org/10.1167/iovs.10-5740DOI Listing
February 2011

A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E.

Hum Mol Genet 2010 Mar 16;19(5):848-60. Epub 2009 Dec 16.

Department of Genetics, Nephrology, Hypertension, and Vascular Injury, Max-Delbrück Center for Molecular Medicine (MDC), Robert-Rössle Strasse 10, 13125 Berlin, Germany.

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http://dx.doi.org/10.1093/hmg/ddp553DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3031338PMC
March 2010

Identification and characterization of CaApe2--a neutral arginine/alanine/leucine-specific metallo-aminopeptidase from Candida albicans.

FEMS Yeast Res 2008 Sep 11;8(6):858-69. Epub 2008 Jul 11.

Poliklinik für Zahnerhaltung, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

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http://dx.doi.org/10.1111/j.1567-1364.2008.00411.xDOI Listing
September 2008

Small reciprocal insertion detected by spectral karyotyping (SKY) and delimited by array-CGH analysis.

Eur J Med Genet 2005 Jul-Sep;48(3):328-38

Department of Clinical Genetics, University Medical Center Carl Gustav Carus, Fetscherstr. 74, D-01307 Dresden, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2005.04.024DOI Listing
November 2005

High-resolution analysis of chromosomal imbalances using the Affymetrix 10K SNP genotyping chip.

Genomics 2005 Mar;85(3):392-400

Institute of Clinical Genetics, Medical Faculty Carl Gustav Carus, Fetscherstrasse 74, 01307 Dresden, Germany.

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http://dx.doi.org/10.1016/j.ygeno.2004.07.015DOI Listing
March 2005

Expression of mouse Tbx22 supports its role in palatogenesis and glossogenesis.

Dev Dyn 2003 Apr;226(4):579-86

Max-Planck Institute for Molecular Genetics, Berlin, Germany.

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http://dx.doi.org/10.1002/dvdy.10260DOI Listing
April 2003