Joint analysis of germline genetic data from over 29,000 cases with suspected hereditary breast and ovarian cancer (HBOC) as part of the NASGE initiative

Authors: Jan Henkel, Andreas Laner, Melanie Locher, Tobias Wohlfrom, Birgit Neitzel, Kerstin Becker, Teresa Neuhann, Angela Abicht, Verena Steinke-Lange, Barbara Klink, Birgit Eichhorn, Winfried Schmidt, Daniel Berner, Anna Teubert, Anne Holtorf, Sarah Heinrich, Gabriele Wildhardt, Martin Schulze, Laura von der Heyden, Konstanze Hörtnagel, Daniela Steinberger, Saskia Kleier, Peter Lorenz, Ralf Glaubitz, Saskia Biskup, Elke Holinski-Feder

Source: Breast, Vol 80, Iss , Pp 103887- (2025)

Subject Terms: Genetic testing, Hereditary breast and ovarian cancer syndrome, Gene panel testing, Genetic predisposition to disease, Neoplastic syndromes, Hereditary, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0960977625000165; https://doaj.org/toc/1532-3080

Access URL: https://doaj.org/article/fe72cde4a9a245eca1156db5b8eaf5bf

Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratories

Authors: Maximilian G. W. Witzel, Christian Gebhard, Sören Wenzel, Saskia Kleier, Birgit Eichhorn, Peter Lorenz, Laura von der Heyden, Marius Kuhn, Manuel Luedeke, Miriam Döcker, Jerome Jüngling, Björn Schulte, Konstanze Hörtnagel, Ralf Glaubitz, Sarah Knippenberger, Anna Teubert, Angela Abicht, Teresa M. Neuhann

Source: Frontiers in Neurology, Vol 14 (2023)

Subject Terms: epilepsy, pediatric, neurology, syndromic, genetics, next-generation sequencing, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1276238/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/ddb88b4a6eb14a39be8ecc8917e83de0

A Novel PKD1 Mutation Associated With Autosomal Dominant Kidney Disease and Cerebral Cavernous Malformation

Authors: Christian Thomas, Andrea Zühlsdorf, Konstanze Hörtnagel, Lejla Mulahasanovic, Oliver M. Grauer, Philipp Kümpers, Heinz Wiendl, Sven G. Meuth

Source: Frontiers in Neurology, Vol 9 (2018)

Subject Terms: ADPKD, CCM, sequencing, familial, mutation, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fneur.2018.00383/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/e04731d0c73d491ab68b05814a86a46b

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Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation.

Authors: Monika B. Hartig, Konstanze Hörtnagel, Barbara Garavaglia, Giovanna Zorzi, Tomasz Kmiec, Thomas Klopstock, Kevin Rostasy, Marina Svetel, Vladimir S. Kostic, Markus Schuelke, Evelyn Botz, Adolf Weindl, Ivana Novakovic, Nardo Nardocci, Holger Prokisch, Thomas Meitinger

Source: Annals of Neurology; Feb2006, Vol. 59 Issue 2, p248-256, 9p

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