Katharina Wimmer

Katharina Wimmer

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Katharina Wimmer

Katharina Wimmer

Publications by authors named "Katharina Wimmer"

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59Publications

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Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Authors:
Magdalena Koczkowska Tom Callens Yunjia Chen Alicia Gomes Alesha D Hicks Angela Sharp Eric Johns Kim Armfield Uhas Linlea Armstrong Katherine Armstrong Bosanko Dusica Babovic-Vuksanovic Laura Baker Donald G Basel Mario Bengala James T Bennett Chelsea Chambers Lola K Clarkson Maurizio Clementi Fanny M Cortés Mitch Cunningham M Daniela D'Agostino Martin B Delatycki Maria C Digilio Laura Dosa Silvia Esposito Stephanie Fox Mary-Louise Freckmann Christine Fauth Teresa Giugliano Sandra Giustini Allison Goetsch Yael Goldberg Robert S Greenwood Cristin Griffis Karen W Gripp Punita Gupta Eric Haan Rachel K Hachen Tamara L Haygarth Concepción Hernández-Chico Katelyn Hodge Robert J Hopkin Louanne Hudgins Sandra Janssens Kory Keller Geraldine Kelly-Mancuso Aaina Kochhar Bruce R Korf Andrea M Lewis Jan Liebelt Angie Lichty Robert H Listernick Michael J Lyons Isabelle Maystadt Mayra Martinez Ojeda Carey McDougall Lesley K McGregor Daniela Melis Nancy Mendelsohn Malgorzata J M Nowaczyk June Ortenberg Karin Panzer John G Pappas Mary Ella Pierpont Giulio Piluso Valentina Pinna Eniko K Pivnick Dinel A Pond Cynthia M Powell Caleb Rogers Noa Ruhrman Shahar S Lane Rutledge Veronica Saletti Sarah A Sandaradura Claudia Santoro Ulrich A Schatz Allison Schreiber Daryl A Scott Elizabeth A Sellars Ruth Sheffer Elizabeth Siqveland John M Slopis Rosemarie Smith Alberto Spalice David W Stockton Haley Streff Amy Theos Gail E Tomlinson Grace Tran Pamela L Trapane Eva Trevisson Nicole J Ullrich Jenneke Van den Ende Samantha A Schrier Vergano Stephanie E Wallace Michael F Wangler David D Weaver Kaleb H Yohay Elaine Zackai Jonathan Zonana Vickie Zurcher Kathleen B M Claes Marica Eoli Yolanda Martin Katharina Wimmer Alessandro De Luca Eric Legius Ludwine M Messiaen

Hum Mutat 2019 Oct 8. Epub 2019 Oct 8.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.

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http://dx.doi.org/10.1002/humu.23929DOI Listing
October 2019

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Genet Med 2019 04 7;21(4):867-876. Epub 2018 Sep 7.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

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http://dx.doi.org/10.1038/s41436-018-0269-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752285PMC
April 2019

Cleft lip/palate and hereditary diffuse gastric cancer: report of a family harboring a CDH1 c.687 + 1G > A germline mutation and review of the literature.

Fam Cancer 2019 04;18(2):253-260

Laboratory for Molecular Biology and Tumor Cytogenetics, Department of Internal Medicine I, Ordensklinikum Linz Barmherzige Schwestern, Seilerstätte 4, 4010, Linz, Austria.

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http://dx.doi.org/10.1007/s10689-018-0111-5DOI Listing
April 2019

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Genet Med 2019 03;21(3):764-765

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.

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http://www.nature.com/articles/s41436-018-0326-8
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http://dx.doi.org/10.1038/s41436-018-0326-8DOI Listing
March 2019

Diagnostic challenges in a child with early onset desmoplastic medulloblastoma and homozygous variants in MSH2 and MSH6.

Eur J Hum Genet 2018 03 4;26(3):440-444. Epub 2018 Jan 4.

Department of Paediatric Oncology, Haematology and Clinical Immunology, University Children´s Hospital, Medical Faculty, Heinrich Heine University, Duesseldorf, Germany.

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http://dx.doi.org/10.1038/s41431-017-0071-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839041PMC
March 2018

Comprehensive Analysis of Hypermutation in Human Cancer.

Cell 2017 Nov 19;171(5):1042-1056.e10. Epub 2017 Oct 19.

Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada; Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2017.09.048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5849393PMC
November 2017

PMS2 inactivation by a complex rearrangement involving an HERV retroelement and the inverted 100-kb duplicon on 7p22.1.

Eur J Hum Genet 2016 11 22;24(11):1598-1604. Epub 2016 Jun 22.

Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.

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http://dx.doi.org/10.1038/ejhg.2016.75DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110070PMC
November 2016

Constitutional or biallelic? Settling on a name for a recessively inherited cancer susceptibility syndrome.

J Med Genet 2016 Apr 3;53(4):226. Epub 2015 Jun 3.

Department of Gastroenterology & Hepatology, Leiden University Medical Centre, Leiden, The Netherlands.

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http://dx.doi.org/10.1136/jmedgenet-2015-103249DOI Listing
April 2016

Decoding NF1 Intragenic Copy-Number Variations.

Am J Hum Genet 2015 Aug 16;97(2):238-49. Epub 2015 Jul 16.

Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.06.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573439PMC
August 2015

Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient.

Eur J Hum Genet 2015 Jun 8;23(6):870-3. Epub 2014 Oct 8.

1] FG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany [2] Institute for Medical Genetics and Human Genetics, Universitätsmedizin Berlin, Charité Berlin - Campus Virchow, Berlin, Germany.

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http://dx.doi.org/10.1038/ejhg.2014.210DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795057PMC
June 2015

A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.

J Med Genet 2015 May 17;52(5):348-52. Epub 2015 Feb 17.

Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada Department of Human Genetics, McGill University, Montreal, Quebec, Canada Department of Medical Genetics, McGill University Health Centre, Montreal, Quebec, Canada Lady Davis Institute for Medical Research, Jewish General Hospital, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1136/jmedgenet-2014-102934DOI Listing
May 2015

PMS2 gene mutational analysis: direct cDNA sequencing to circumvent pseudogene interference.

Methods Mol Biol 2014 ;1167:289-302

Division of Human Genetics, Medical University Innsbruck, Peter-Mayr-Strasse 1, Innsbruck, 6020, Austria,

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http://link.springer.com/10.1007/978-1-4939-0835-6_20
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http://dx.doi.org/10.1007/978-1-4939-0835-6_20DOI Listing
January 2015

Clinical utility gene card for: tuberous sclerosis complex (TSC1, TSC2).

Eur J Hum Genet 2014 Feb 12;22(2). Epub 2013 Jun 12.

Department Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2013.129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3895647PMC
February 2014

EPCAM germline and somatic rearrangements in Lynch syndrome: identification of a novel 3'EPCAM deletion.

Genes Chromosomes Cancer 2013 Sep 26;52(9):845-54. Epub 2013 Jun 26.

Department of Human Genetics, University Hospital Leuven, 3000 Leuven, Belgium.

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http://dx.doi.org/10.1002/gcc.22080DOI Listing
September 2013

Multiple pilomatricomas with somatic CTNNB1 mutations in children with constitutive mismatch repair deficiency.

Genes Chromosomes Cancer 2013 Jul 30;52(7):656-64. Epub 2013 Apr 30.

Department of Human Genetics, KU Leuven, University Hospitals Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/gcc.22061DOI Listing
July 2013

Review and update of SPRED1 mutations causing Legius syndrome.

Hum Mutat 2012 Nov 1;33(11):1538-46. Epub 2012 Aug 1.

Department of Human Genetics, Catholic University Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/humu.22152DOI Listing
November 2012

The NF1 gene contains hotspots for L1 endonuclease-dependent de novo insertion.

PLoS Genet 2011 Nov 17;7(11):e1002371. Epub 2011 Nov 17.

Division Human Genetics, Medical University Innsbruck, Innsbruck, Austria.

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http://dx.doi.org/10.1371/journal.pgen.1002371DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3219598PMC
November 2011

Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?

Hum Genet 2008 Sep 18;124(2):105-22. Epub 2008 Aug 18.

Department of Medical Genetics, Medical University of Vienna, Währingerstrasse 10, 1090, Vienna, Austria.

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http://dx.doi.org/10.1007/s00439-008-0542-4DOI Listing
September 2008

GAB2 is a novel target of 11q amplification in AML/MDS.

Genes Chromosomes Cancer 2006 Sep;45(9):798-807

Abteilung für Humangenetik, Klinisches Institut für Medizinische und Chemische Labor Diagnostik (KIMCL), Medizinische Universität Wien, Währinger Strasse 10, A-1090 Vienna, Austria.

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http://dx.doi.org/10.1002/gcc.20344DOI Listing
September 2006

Silver-Russell syndrome-like features in a patient carrying a novel NF1 mutation.

Pediatr Res 2005 Dec;58(6):1265-8

Department of Human Genetics, Clinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University of Vienna, Austria.

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http://dx.doi.org/10.1203/01.pdr.0000183661.81772.f8DOI Listing
December 2005

[Neurofibromatosis: the most frequent hereditary tumor predisposition syndrome].

Authors:
Katharina Wimmer

Wien Med Wochenschr 2005 Jun;155(11-12):273-80

Abteilung für Humangenetik, Klinisches Institut für Medizinische und Chemische Labordiagnostik, Medizinische Universität Wien, Wien, Osterreich.

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http://dx.doi.org/10.1007/s10354-005-0185-1DOI Listing
June 2005

N-myc modulates expression of p73 in neuroblastoma.

Neoplasia 2002 Sep-Oct;4(5):432-9

Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI 48109, USA.

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http://dx.doi.org/10.1038/sj.neo.7900255DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1564122PMC
February 2003

Mutational and expression analysis of the NF1 gene argues against a role as tumor suppressor in sporadic pilocytic astrocytomas.

J Neuropathol Exp Neurol 2002 Oct;61(10):896-902

Institut für Medizinische Biologie, Universität Wien, Vienna, Austria.

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http://dx.doi.org/10.1093/jnen/61.10.896DOI Listing
October 2002