Initial Clinical Experience with NIPT for Rare Autosomal Aneuploidies and Large Copy Number Variations by Thomas Harasim, Teresa Neuhann, Anne Behnecke, Miriam Stampfer, Elke Holinski-Feder, Angela Abicht

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Optical Genome Mapping as a Potential Routine Clinical Diagnostic Method by Hayk Barseghyan, Doris Eisenreich, Evgenia Lindt, Martin Wendlandt, Florentine Scharf, Anna Benet-Pages, Kai Sendelbach, Teresa Neuhann, Angela Abicht, Elke Holinski-Feder, Udo Koehler

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Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants. by Nicole Weisschuh, Simone Schimpf-Linzenbold, Pascale Mazzola, Sinja Kieninger, Ting Xiao, Ulrich Kellner, Teresa Neuhann, Carina Kelbsch, Felix Tonagel, Helmut Wilhelm, Susanne Kohl, Bernd Wissinger

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Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. by Tobias Eisenberger, Christine Neuhaus, Arif O Khan, Christian Decker, Markus N Preising, Christoph Friedburg, Anika Bieg, Martin Gliem, Peter Charbel Issa, Frank G Holz, Shahid M Baig, Yorck Hellenbroich, Alberto Galvez, Konrad Platzer, Bernd Wollnik, Nadja Laddach, Saeed Reza Ghaffari, Maryam Rafati, Elke Botzenhart, Sigrid Tinschert, Doris Börger, Axel Bohring, Julia Schreml, Stefani Körtge-Jung, Chayim Schell-Apacik, Khadijah Bakur, Jumana Y Al-Aama, Teresa Neuhann, Peter Herkenrath, Gudrun Nürnberg, Peter Nürnberg, John S Davis, Andreas Gal, Carsten Bergmann, Birgit Lorenz, Hanno J Bolz

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