Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders

por Trinh, Joanne, Kandaswamy, Krishna Kumar, Werber, Martin, Weiss, Maximilian E. R., Oprea, Gabriela, Kishore, Shivendra, Lohmann, Katja, Rolfs, Arndt
Publicado 2019

Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population

por Bauer, Peter, Kandaswamy, Krishna Kumar, Weiss, Maximilian E. R., Paknia, Omid, Werber, Martin, Bertoli-Avella, Aida M., Yüksel, Zafer, Bochinska, Malgorzata, Oprea, Gabriela E., Kishore, Shivendra, Weckesser, Volkmar, Karges, Ellen, Rolfs, Arndt
Publicado 2018

Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR

por Trujillano, Daniel, Weiss, Maximilian E R, Köster, Julia, Papachristos, Efstathios B, Werber, Martin, Kandaswamy, Krishna Kumar, Marais, Anett, Eichler, Sabrina, Creed, Jenny, Baysal, Erol, Jaber, Iqbal Yousuf, Mehaney, Dina Ahmed, Farra, Chantal, Rolfs, Arndt
Publicado 2015