Metabolic biomarker testing facilitates genetic diagnosis of Niemann-Pick disease by enabling classification of novel SMPD1 variants

by Vindhya Lakmali Miyanawala, Christian Beetz, Samantha Waidyanatha, Sabine Schroder, Vasiliki Karageorgou, Claudia Cozma, Eresha Jasinge, Arndt Rolfs
Published 2019-12-01

P576: Impact of processed pseudogene insertions in genetic testing as cause of monogenic diseases: Insertion in CLCN1 gene causing myotonia congenita

by Kornelia Tripolszki, Javier Martini, Kapil Kampe, Vasiliki Karageorgou, Mohamed Almuhaizea, Catarina Pereira, Stephanie Weissgraeber, Omid Paknia, Jorge Pinto-Basto, Peter Bauer
Published 2023-01-01

Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias.

by Slimane Allali, Jean-Baptiste Muller, Raja Brauner, Diana Lourenço, Radia Boudjenah, Vasiliki Karageorgou, Christine Trivin, Henri Lottmann, Stephen Lortat-Jacob, Claire Nihoul-Fékété, Olivier De Dreuzy, Ken McElreavey, Anu Bashamboo
Published 2011-01-01

Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat Syndrome

by Malak Ali Alghamdi, Malak Ali Alghamdi, Hicham Benabdelkamel, Afshan Masood, Narjes Saheb Sharif-Askari, Mahmood Y. Hachim, Hamad Alsheikh, Muddathir H. Hamad, Mustafa A. Salih, Fahad A. Bashiri, Fahad A. Bashiri, Khalid Alhasan, Khalid Alhasan, Khalid Alhasan, Tarek Kashour, Pilar Guatibonza Moreno, Sabine Schröder, Vasiliki Karageorgou, Aida M. Bertoli-Avella, Hisham Alkhalidi, Dima Z. Jamjoom, Ibrahim A. Alorainy, Assim A. Alfadda, Assim A. Alfadda, Assim A. Alfadda, Rabih Halwani
Published 2022-06-01