Publications by authors named "Markus Stumm"

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Opportunities and Limitations of Modern High Throughput Sequencing in Invasive Prenatal Diagnostics.
Heinz Gabriel, Markus Stumm

Geburtshilfe Frauenheilkd· September 2025

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Trisomy 18 mosaicism - are we able to predict postnatal outcome by analysing the tissue-specific distribution?
Iris Dressler-Steinbach, Miriam Kinzel, Holger Janke, Rainer Wimmer, Alexander Weichert, Markus Stumm

J Perinat Med· March 2025

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Intersexual Twins due to Tetragametic Chimerism.
Rainer Wimmer, Uta Neumann, André Weber, Melanie Isau, Heike Renner-Luetzkendorf, Markus Stumm

Cytogenet Genome Res· June 2023

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The First Neocentric, Discontinuous, and Complex Small Supernumerary Marker Chromosome Composed of 7 Euchromatic Blocks Derived from 5 Different Chromosomes.
André Weber, Thomas Liehr, Ahmed Al-Rikabi, Simal Bilgen, Uwe Heinrich, Markus Stumm

Biomedicines· May 2022

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The influence of low molecular weight heparin medication on plasma DNA in pregnant women.
Sebastian Grömminger, Sanli Erkan, Ulrike Schöck, Kerstin Stangier, Joachim Bonnet, Markus Stumm

Prenat Diagn· November 2015

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Consanguinity and pregnancy outcomes in a multi-ethnic, metropolitan European population.
Rolf Becker, Thomas Keller, Rolf-Dieter Wegner, Heidemarie Neitzel, Markus Stumm

Prenat Diagn· January 2015

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Fetal Aneuploidy Detection by Cell-Free DNA Sequencing for Multiple Pregnancies and Quality Issues with Vanishing Twins.
Sebastian Grömminger, Erbil Yagmur, Sanli Erkan, Sándor Nagy, Ulrike Schöck, Markus Stumm

J Clin Med· June 2014

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Pre-implantation and polar body diagnosis in cases of parental chromosomal translocations applying array-CGH.
Rolf-Dieter Wegner, Markus Stumm, Heide Mundt, Matthias Bloechle

Mol Cytogenet· June 2014

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Non-invasive prenatal diagnosis using massively parallel sequencing - first experience in Germany.
Rolf-Dieter Wegner, Markus Stumm, Wera Hofmann

Mol Cytogenet· June 2014

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Diagnostic accuracy of random massively parallel sequencing for non-invasive prenatal detection of common autosomal aneuploidies: a collaborative study in Europe.
Markus Stumm, Michael Entezami, Karsten Haug, Cornelia Blank, Max Wüstemann

Prenat Diagn· February 2014

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Heteromorphic variants of chromosome 9.
Nadezda Kosyakova, Ani Grigorian, Thomas Liehr, Marina Manvelyan, Isabella Simonyan, Markus Stumm

Mol Cytogenet· April 2013

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'Normal' nuchal translucency: a justification to refrain from detailed scan? Analysis of 6858 cases with special reference to ethical aspects.
Rolf Becker, Lothar Schmitz, Stefania Kilavuz, Markus Stumm, Rolf-Dieter Wegner

Prenat Diagn· June 2012

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Noninvasive prenatal detection of chromosomal aneuploidies using different next generation sequencing strategies and algorithms.
Markus Stumm, Michael Entezami, Nastasja Trunk, Martina Beck, Julia Löcherbach

Prenat Diagn· June 2012

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MCPH1 patient cells exhibit delayed release from DNA damage-induced G2/M checkpoint arrest.
Ioannis Gavvovidis, Charlotte Pöhlmann, Juan Alberto Marchal, Markus Stumm, Daisuke Yamashita

Cell Cycle· December 2010

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Small supernumerary marker chromosomes 1 with a normal phenotype.
Thomas Liehr, Rolf-Dieter Wegner, Markus Stumm, Thomas Martin, Gabriele Gillessen-Kaesbach

J Chin Med Assoc· April 2010

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Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1.
Petra van der Lelij, Krystyna H Chrzanowska, Barbara C Godthelp, Martin A Rooimans, Anneke B Oostra, Markus Stumm

Am J Hum Genet· February 2010

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Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder.
Regina Waltes, Reinhard Kalb, Magtouf Gatei, Amanda W Kijas, Markus Stumm

Am J Hum Genet· May 2009

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Fetal 46,XX/69,XXY mixoploidy: origin and confirmation by analysis of fetal urine cells.
Rolf-Dieter Wegner, Gerd Kistner, Rolf Becker, Markus Stumm, Ute Knoll

Prenat Diagn· March 2009

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Fluorescence in situ hybridization techniques in medical diagnostics.
Markus Stumm, Holger Tönnies

Expert Opin Med Diagn· December 2008

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Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC.
Sibylle Jakubiczka, Thomas Bettecken, Klaus Mohnike, Reinhard Schneppenheim, Markus Stumm

Eur J Pediatr· July 2007

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Molecular cytogenetic characterisation of an interstitial deletion 12p detected by prenatal diagnosis.
Markus Stumm, Eva Klopocki, Adam Gasiorek-Wiens, Ute Knoll, Deni Wirjadi

Prenat Diagn· May 2007

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High incidence of familial breast cancer segregates with constitutional t(11;22)(q23;q11).
Ilse Wieland, Petra Muschke, Marianne Volleth, Albrecht Röpke, Antje-Friederike Pelz, Markus Stumm

Genes Chromosomes Cancer· October 2006

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Genotype/phenotype analysis in a patient with pure and complete trisomy 12p.
Walter Zumkeller, Marianne Volleth, Petra Muschke, Holger Tönnies, Anita Heller, Markus Stumm

Am J Med Genet A· September 2004

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Increased cancer risk of heterozygotes with NBS1 germline mutations in Poland.
Jan Steffen, Raymonda Varon, Maria Mosor, Galina Maneva, Martin Maurer, Markus Stumm

Int J Cancer· August 2004

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Characterization of Small Marker Chromosomes (SMC) by Recently Developed Molecular Cytogenetic Approaches.
Thomas Liehr, Angela Nietzel, Heike Starke, Anita Heller, Anja Weise, Markus Stumm

J Assoc Genet Technol· January 2003

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