Publications by authors named "Martin Werber"

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Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort.
Aida M Bertoli-Avella, Christian Beetz, Najim Ameziane, Maria Eugenia Rocha, Pilar Guatibonza, Martin Werber

Eur J Hum Genet· January 2021

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Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment.
Joanne Trinh, Sophie Imhoff, Marija Dulovic-Mahlow, Krishna Kumar Kandaswamy, Vera Tadic, Martin Werber

J Neurol· March 2020

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De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.
Marija Dulovic-Mahlow, Joanne Trinh, Krishna Kumar Kandaswamy, Geir Julius Braathen, Nataliya Di Donato, Martin Werber

Am J Hum Genet· July 2019

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Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders.
Joanne Trinh, Krishna Kumar Kandaswamy, Martin Werber, Maximilian E R Weiss, Gabriela Oprea

J Neurodev Disord· June 2019

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A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia.
Zafer Yüksel, Florian Vogel, Amal M Alhashem, Talal S A Alanzi, Brahim Tabarki, Martin Werber

Clin Genet· May 2019

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Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population.
Peter Bauer, Krishna Kumar Kandaswamy, Maximilian E R Weiss, Omid Paknia, Martin Werber

Genet Med· January 2019

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Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
Daniel Trujillano, Aida M Bertoli-Avella, Krishna Kumar Kandaswamy, Maximilian Er Weiss, Julia Köster, Martin Werber

Eur J Hum Genet· February 2017

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Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.
Daniel Trujillano, Maximilian E R Weiss, Julia Köster, Efstathios B Papachristos, Martin Werber

Mol Genet Genomic Med· September 2015

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Using the canary genome to decipher the evolution of hormone-sensitive gene regulation in seasonal singing birds.
Carolina Frankl-Vilches, Heiner Kuhl, Martin Werber, Sven Klages, Martin Kerick

Genome Biol· January 2015

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SRF is essential for mesodermal cell migration during elongation of the embryonic body axis.
Benedikt Schwartz, Matthias Marks, Lars Wittler, Martin Werber, Sandra Währisch

Mech Dev· August 2014

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The tissue-specific transcriptomic landscape of the mid-gestational mouse embryo.
Martin Werber, Lars Wittler, Bernd Timmermann, Phillip Grote, Bernhard G Herrmann

Development· June 2014

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The tissue-specific lncRNA Fendrr is an essential regulator of heart and body wall development in the mouse.
Phillip Grote, Lars Wittler, David Hendrix, Frederic Koch, Sandra Währisch, Martin Werber

Dev Cell· January 2013

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The Saccharomyces cerevisiae W303-K6001 cross-platform genome sequence: insights into ancestry and physiology of a laboratory mutt.
Markus Ralser, Heiner Kuhl, Meryem Ralser, Martin Werber, Hans Lehrach

Open Biol· August 2012

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Somatic mutation profiles of MSI and MSS colorectal cancer identified by whole exome next generation sequencing and bioinformatics analysis.
Bernd Timmermann, Martin Kerick, Christina Roehr, Axel Fischer, Melanie Isau, Martin Werber

PLoS One· December 2010

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High-throughput sequencing of microdissected chromosomal regions.
Anja Weise, Bernd Timmermann, Manfred Grabherr, Martin Werber, Patricia Heyn

Eur J Hum Genet· April 2010

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Retention of gene products in syncytial spermatids promotes non-Mendelian inheritance as revealed by the t complex responder.
Nathalie Véron, Hermann Bauer, Andrea Y Weisse, Gerhild Lüder, Martin Werber

Genes Dev· December 2009

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Trace2PS and FSA2PS: two software toolkits for converting trace and fsa files to PostScript format.
Justina Krawczyk, Alexander Goesmann, Ralf Nolte, Martin Werber, Bernd Weisshaar

Source Code Biol Med· July 2009

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Expression of Msgn1 in the presomitic mesoderm is controlled by synergism of WNT signalling and Tbx6.
Lars Wittler, Eun-ha Shin, Phillip Grote, Andreas Kispert, Anja Beckers, Martin Werber

EMBO Rep· August 2007

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Update on the basic helix-loop-helix transcription factor gene family in Arabidopsis thaliana.
Paul C Bailey, Cathie Martin, Gabriela Toledo-Ortiz, Peter H Quail, Enamul Huq, Martin Werber

Plant Cell· November 2003

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The basic helix-loop-helix transcription factor family in plants: a genome-wide study of protein structure and functional diversity.
Marc A Heim, Marc Jakoby, Martin Werber, Cathie Martin, Bernd Weisshaar

Mol Biol Evol· May 2003

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Isolation and linkage analysis of expressed disease-resistance gene analogues of sugar beet (Beta vulgaris L.).
Sandra Hunger, Gabriele Di Gaspero, Slike Möhring, Diana Bellin, Ralf Schäfer-Pregl, Martin Werber

Genome· February 2003

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Two long-chain acyl-CoA synthetases from Arabidopsis thaliana involved in peroxisomal fatty acid beta-oxidation.
Martin Fulda, Jay Shockey, Martin Werber, Frank P Wolter, Ernst Heinz

Plant J· October 2002

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