1. "Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay. Issue 9 (18th July 2019) Authors: Jahic, Amir; Günther, Sven; Muschol, Nicole; Fossøy Stadheim, Barbro; Braaten, Øivind; Kjensli Hyldebrandt, Hanne; Kuiper, Gé‐Ann; Tylee, Karen; Wijburg, Frits A.; Beetz, Christian Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 9(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3′UTR‐encoded, aggregation‐inducing motif. Issue 2 (27th November 2017) Authors: Bock, Andrea S.; Günther, Sven; Mohr, Julia; Goldberg, Lisa V.; Jahic, Amir; Klisch, Cornelia; Hübner, Christian A.; Biskup, Saskia; Beetz, Christian Journal: Human mutation Issue: Volume 39:Issue 2(2018) Page Start: 193 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. CosmicNet II: emulating extended cosmologies with efficient and accurate neural networks. Issue 11 (1st November 2022) Authors: Günther, Sven; Lesgourgues, Julien; Samaras, Georgios; Schöneberg, Nils; Stadtmann, Florian; Fidler, Christian; Torrado, Jesús Journal: Journal of cosmology and astroparticle physics Issue: Volume 2022:Issue 11(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles. Issue 7 (28th April 2016) Authors: Günther, Sven; Elert‐Dobkowska, Ewelina; Soehn, Anne S.; Hinreiner, Sophie; Yoon, Grace; Heller, Raoul; Hellenbroich, Yorck; Hübner, Christian A.; Ray, Peter N.; Hehr, Ute; Bauer, Peter; Sulek, Anna; Beetz, Christian Journal: Human mutation Issue: Volume 37:Issue 7(2016) Page Start: 703 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Hypoxemia during sleep and overnight rostral fluid shift in pulmonary arterial hypertension: a pilot study. (1st March 2021) Authors: Jutant, Etienne‐Marie; Montani, David; Sattler, Caroline; Günther, Sven; Sitbon, Olivier; Garcia, Gilles; Arnulf, Isabelle; Humbert, Marc; Similowski, Thomas; Redolfi, Stefania Journal: Pulmonary circulation Issue: Volume 11:Number 2(2021) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Hypoxemia during sleep and overnight rostral fluid shift in pulmonary arterial hypertension: a pilot study. (March 2021) Authors: Jutant, Etienne-Marie; Montani, David; Sattler, Caroline; Günther, Sven; Sitbon, Olivier; Garcia, Gilles; Arnulf, Isabelle; Humbert, Marc; Similowski, Thomas; Redolfi, Stefania Journal: Pulmonary circulation Issue: Volume 11:Number 2(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Mitomycin-Induced Pulmonary Veno-Occlusive Disease. Issue 9 (1st September 2015) Authors: Perros, Frédéric; Günther, Sven; Ranchoux, Benoit; Godinas, Laurent; Antigny, Fabrice; Chaumais, Marie-Camille; Dorfmüller, Peter; Hautefort, Aurélie; Raymond, Nicolas; Savale, Laurent; Jaïs, Xavier; Girerd, Barbara; Cottin, Vincent; Sitbon, Olivier; Simonneau, Gerald; Humbert, Marc; Montani, David Journal: Circulation Issue: Volume 132:Issue 9(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Mitomycin-Induced Pulmonary Veno-Occlusive Disease: Evidence From Human Disease and Animal Models. Issue 9 (1st September 2015) Authors: Perros, Frédéric; Günther, Sven; Ranchoux, Benoit; Godinas, Laurent; Antigny, Fabrice; Chaumais, Marie-Camille; Dorfmüller, Peter; Hautefort, Aurélie; Raymond, Nicolas; Savale, Laurent; Jaïs, Xavier; Girerd, Barbara; Cottin, Vincent; Sitbon, Olivier; Simonneau, Gerald; Humbert, Marc; Montani, David Journal: Circulation Issue: Volume 132:Issue 9(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Novel Genetic, Clinical, and Pathomechanistic Insights into TFG‐Associated Hereditary Spastic Paraplegia. Issue 11 (30th August 2016) Authors: Harlalka, Gaurav V.; McEntagart, Meriel E.; Gupta, Neerja; Skrzypiec, Anna E.; Mucha, Mariusz W.; Chioza, Barry A.; Simpson, Michael A.; Sreekantan‐Nair, Ajith; Pereira, Anthony; Günther, Sven; Jahic, Amir; Modarres, Hamid; Moore‐Barton, Heather; Trembath, Richard C.; Kabra, Madhulika; Baple, Emm... Journal: Human mutation Issue: Volume 37:Issue 11(2016) Page Start: 1157 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Relation between left ventricular ejection time and pulmonary hemodynamics in pulmonary hypertension. (1st April 2015) Authors: Günther, Sven; Sztrymf, Benjamin; Savale, Laurent; Lau, Edmund M.; Montani, David; Hervé, Philippe; Lador, Frédéric; Jaïs, Xavier; Parent, Florence; Simonneau, Gérald; Sitbon, Olivier; Humbert, Marc; Chemla, Denis Journal: International journal of cardiology Issue: Volume 184(2015) Page Start: 763 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗