1. A recurrent germline mutation in the PIGA gene causes Simpson‐Golabi‐Behmel syndrome type 2. Issue 2 (6th November 2015) Authors: Fauth, Christine; Steindl, Katharina; Toutain, Annick; Farrell, Sandra; Witsch‐Baumgartner, Martina; Karall, Daniela; Joset, Pascal; Böhm, Sebastian; Baumer, Alessandra; Maier, Oliver; Zschocke, Johannes; Weksberg, Rosanna; Marshall, Christian R.; Rauch, Anita Journal: American journal of medical genetics Issue: Volume 170:Issue 2(2016) Page Start: 392 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A severe congenital myasthenic syndrome with "dropped head" caused by novel MUSK mutations. Issue 4 (1st June 2015) Authors: Giarrana, Miriam L.; Joset, Pascal; Sticht, Heinrich; Robb, Stephanie; Steindl, Katharina; Rauch, Anita; Klein, Andrea Journal: Muscle & nerve Issue: Volume 52:Issue 4(2015:Oct.) Page Start: 668 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Confirmation of mutations in PROSC as a novel cause of vitamin B6-dependent epilepsy. Issue 12 (8th April 2017) Authors: Plecko, Barbara; Zweier, Markus; Begemann, Anaïs; Mathis, Deborah; Schmitt, Bernhard; Striano, Pasquale; Baethmann, Martina; Vari, Maria Stella; Beccaria, Francesca; Zara, Federico; Crowther, Lisa M; Joset, Pascal; Sticht, Heinrich; Papuc, Sorina Mihaela; Rauch, Anita Journal: Journal of medical genetics Issue: Volume 54:Issue 12(2017) Page Start: 809 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Confirmation of mutations in the PROSC gene as a novel cause of vitamin B6 dependent epilepsy. (June 2017) Authors: Plecko, Barbara; Zweier, Markus; Begeman, Anais; Mathis, Deborah; Schmitt, Bernhard; Striano, Pasquale; Baethmann, Martina; Vari, Maria Stella; Beccaria, Francesca; Zara, Federico; Crowther, Lisa M.; Joset, Pascal; Sticht, Heinrich; Papuc, Mihaela S.; Rauch, Anita Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Confirmation of Ogden syndrome as an X‐linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature. Issue 8 (1st June 2021) Authors: Gogoll, Laura; Steindl, Katharina; Joset, Pascal; Zweier, Markus; Baumer, Alessandra; Gerth‐Kahlert, Christina; Tutschek, Boris; Rauch, Anita Journal: American journal of medical genetics Issue: Volume 185:Issue 8(2021) Page Start: 2546 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity. (26th May 2021) Authors: Ernst, Michelle E.; Baugh, Evan H.; Thomas, Amanda; Bier, Louise; Lippa, Natalie; Stong, Nicholas; Mulhern, Maureen S.; Kushary, Sulagna; Akman, Cigdem I.; Heinzen, Erin L.; Yeh, Raymond; Bi, Weimin; Hanchard, Neil A.; Burrage, Lindsay C.; Leduc, Magalie S.; Chong, Josephine S. C.; Bend, Renee; L... Journal: Epilepsia Issue: Volume 62:issue 7(2021) Page Start: e103 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum. Issue 1 (29th August 2016) Authors: Reuter, Miriam S; Riess, Angelika; Moog, Ute; Briggs, Tracy A; Chandler, Kate E; Rauch, Anita; Stampfer, Miriam; Steindl, Katharina; Gläser, Dieter; Joset, Pascal; Krumbiegel, Mandy; Rabe, Harald; Schulte-Mattler, Uta; Bauer, Peter; Beck-Wödl, Stefanie; Kohlhase, Jürgen; Reis, André; Zweier, Chri... Journal: Journal of medical genetics Issue: Volume 54:Issue 1(2017) Page Start: 64 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Genome-wide non-invasive prenatal testing in single- and multiple-pregnancies at any risk: Identification of maternal polymorphisms to reduce the number of unnecessary invasive confirmation testing. (September 2020) Authors: Oneda, Beatrice; Sirleto, Pietro; Baldinger, Rosa; Taralczak, Malgorzata; Joset, Pascal; Zweier, Markus; Niedrist, Dunja; Azzarello-Burri, Silvia; Britschgi, Christian; Breymann, Christian; Ochsenbein-Kölble, Nicole; Burkhardt, Tilo; Wisser, Josef; Zimmermann, Roland; Steindl, Katharina; Rauch, A... Journal: European journal of obstetrics, gynecology, and reproductive biology Issue: Volume 252(2020) Page Start: 19 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Genotype–phenotype spectrum in isolated and syndromic nanophthalmos. Issue 4 (30th September 2020) Authors: Lang, Elena; Koller, Samuel; Atac, David; Pfäffli, Oliver A.; Hanson, James V.M.; Feil, Silke; Bähr, Luzy; Bahr, Angela; Kottke, Raimund; Joset, Pascal; Fasler, Katrin; Barthelmes, Daniel; Steindl, Katharina; Konrad, Daniel; Wille, David‐Alexander; Berger, Wolfgang; Gerth‐Kahlert, Christina Journal: Acta ophthalmologica Issue: Volume 99:Issue 4(2021) Page Start: e594 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. High‐resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic power. (21st March 2014) Authors: Oneda, Beatrice; Baldinger, Rosa; Reissmann, Regina; Reshetnikova, Irina; Krejci, Pavel; Masood, Rahim; Ochsenbein‐Kölble, Nicole; Bartholdi, Deborah; Steindl, Katharina; Morotti, Denise; Faranda, Marzia; Baumer, Alessandra; Asadollahi, Reza; Joset, Pascal; Niedrist, Dunja; Breymann, Christian; H... Journal: Prenatal diagnosis Issue: Volume 34:Number 6(2014:Jun.) Page Start: 525 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗