1. Biallelic SEMA3A defects cause a novel type of syndromic short stature. Issue 11 (3rd October 2013) Authors: Hofmann, Kristin; Zweier, Markus; Sticht, Heinrich; Zweier, Christiane; Wittmann, Wolfgang; Hoyer, Juliane; Uebe, Steffen; van Haeringen, Arie; Thiel, Christian T.; Ekici, Arif B.; Reis, André; Rauch, Anita Journal: American journal of medical genetics Issue: Volume 161:Issue 11(2013:Nov.) Page Start: 2880 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. 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) ↗
4. 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) ↗
5. Further characterization of Borjeson‐Forssman‐Lehmann syndrome in females due to de novo variants in PHF6. Issue 3 (14th June 2022) Authors: Gerber, Céline B.; Fliedner, Anna; Bartsch, Oliver; Berland, Siren; Dewenter, Malin; Haug, Marte; Hayes, Ian; Marin‐Reina, Purificacion; Mark, Paul R.; Martinez‐Castellano, Francisco; Maystadt, Isabelle; Karadurmus, Deniz; Steindl, Katharina; Wiesener, Antje; Zweier, Markus; Sticht, Heinrich; Zwe... Journal: Clinical genetics Issue: Volume 102:Issue 3(2022) Page Start: 182 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
7. Prenatal diagnosis of HNF1B‐associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?. (25th October 2019) Authors: Vasileiou, Georgia; Hoyer, Juliane; Thiel, Christian T.; Schaefer, Jan; Zapke, Maren; Krumbiegel, Mandy; Kraus, Cornelia; Zweier, Markus; Uebe, Steffen; Ekici, Arif B.; Schneider, Michael; Wiesener, Michael; Rauch, Anita; Faschingbauer, Florian; Reis, André; Zweier, Christiane; Popp, Bernt Journal: Prenatal diagnosis Issue: Volume 39:Number 12(2019) Page Start: 1136 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B. Issue 5 (21st March 2017) Authors: Zweier, Markus; Peippo, Maarit M.; Pöyhönen, Minna; Kääriäinen, Helena; Begemann, Anaïs; Joset, Pascal; Oneda, Beatrice; Rauch, Anita Journal: American journal of medical genetics Issue: Volume 173:Issue 5(2017) Page Start: 1440 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗