1. A single center experience of prenatal parent‐fetus trio exome sequencing for pregnancies with congenital anomalies. (20th May 2022) Authors: Dufke, Andreas; Hoopmann, Markus; Waldmüller, Stephan; Prodan, Natalia Carmen; Beck‐Wödl, Stefanie; Grasshoff, Ute; Heinrich, Tilman; Riess, Angelika; Kehrer, Martin; Falb, Ruth J.; Liebmann, Alexandra; Roggia, Cristiana; Stampfer, Miriam; Schadeck, Malou; Müller, Amelie J.; Grimmel, Mona; Stöbe,... Other Names: Van den Veyver Igna guestEditor. Journal: Prenatal diagnosis Issue: Volume 42:Number 7(2022) Page Start: 901 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Adult‐Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND): Time to Move Beyond the Skin. Issue 8 (14th June 2022) Authors: Cordts, Isabell; Önder, Demet; Traschütz, Andreas; Kobeleva, Xenia; Karin, Ivan; Minnerop, Martina; Koertvelyessy, Peter; Biskup, Saskia; Forchhammer, Stephan; Binder, Johannes; Tzschach, Andreas; Meiss, Frank; Schmidt, Axel; Kreiß, Martina; Cremer, Kirsten; Mensah, Martin A.; Park, Joohyun; Raut... Journal: Movement disorders Issue: Volume 37:Issue 8(2022) Page Start: 1707 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia. (5th September 2017) Authors: Giordano, Ilaria; Harmuth, Florian; Jacobi, Heike; Paap, Brigitte; Vielhaber, Stefan; Machts, Judith; Schöls, Ludger; Synofzik, Matthis; Sturm, Marc; Tallaksen, Chantal; Wedding, Iselin M.; Boesch, Sylvia; Eigentler, Andreas; van de Warrenburg, Bart; van Gaalen, Judith; Kamm, Christoph; Dudesek, ... Journal: Neurology Issue: Volume 89:Number 10(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy. Issue 4 (22nd August 2019) Authors: Park, Joohyun; Flores, Bianca R; Scherer, Katalin; Kuepper, Hanna; Rossi, Mari; Rupprich, Katrin; Rautenberg, Maren; Deininger, Natalie; Weichselbaum, Annette; Grimm, Alexander; Sturm, Marc; Grasshoff, Ute; Delpire, Eric; Haack, Tobias B Journal: Journal of medical genetics Issue: Volume 57:Issue 4(2020) Page Start: 283 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Deep‐intronic variants in CNGB3 cause achromatopsia by pseudoexon activation. Issue 1 (30th September 2019) Authors: Weisschuh, Nicole; Sturm, Marc; Baumann, Britta; Audo, Isabelle; Ayuso, Carmen; Bocquet, Beatrice; Branham, Kari; Brooks, Brian P.; Catalá‐Mora, Jaume; Giorda, Roberto; Heckenlively, John R.; Hufnagel, Robert B.; Jacobson, Samuel G.; Kellner, Ulrich; Kitsiou‐Tzeli, Sofia; Matet, Alexandre; Martor... Journal: Human mutation Issue: Volume 41:Issue 1(2020) Page Start: 255 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Genetic basis of neurodevelopmental disorders in 103 Jordanian families. Issue 4 (1st March 2020) Authors: Froukh, Tawfiq; Nafie, Omar; Al Hait, Sana' A. S.; Laugwitz, Lucia; Sommerfeld, Julia; Sturm, Marc; Baraghiti, Aya; Issa, Tala; Al‐Nazer, Anis; Koch, Philipp A.; Hanselmann, Johannes; Kootz, Beate; Bauer, Peter; Al‐Ameri, Wael; Abou Jamra, Rami; Alfrook, Ayman J.; Hamadallah, Moath; Sofan, Linda;... Journal: Clinical genetics Issue: Volume 97:Issue 4(2020) Page Start: 621 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. HARVEST, a longitudinal patient record summarizer. (28th October 2014) Authors: Hirsch, Jamie S; Tanenbaum, Jessica S; Lipsky Gorman, Sharon; Liu, Connie; Schmitz, Eric; Hashorva, Dritan; Ervits, Artem; Vawdrey, David; Sturm, Marc; Elhadad, Noémie Journal: Journal of the American Medical Informatics Association Issue: Volume 22:Number 2(2015:Mar.) Page Start: 263 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Intermediate phenotype of ATP13A2 mutation in two Chilean siblings: Towards a continuum between parkinsonism and hereditary spastic paraplegia. (December 2020) Authors: Miranda, Marcelo; Harmuth, Florian; Bustamante, M. Leonor; Rossi, Malco; Sturm, Marc; Magnusson, Ólafur Th; Bauer, Peter; Klockgether, Thomas; Ramirez, Alfredo Journal: Parkinsonism & related disorders Issue: Volume 81(2020) Page Start: 45 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. KCNC1‐related disorders: new de novo variants expand the phenotypic spectrum. Issue 7 (7th June 2019) Authors: Park, Joohyun; Koko, Mahmoud; Hedrich, Ulrike B. S.; Hermann, Andreas; Cremer, Kirsten; Haberlandt, Edda; Grimmel, Mona; Alhaddad, Bader; Beck‐Woedl, Stefanie; Harrer, Merle; Karall, Daniela; Kingelhoefer, Lisa; Tzschach, Andreas; Matthies, Lars C.; Strom, Tim M.; Ringelstein, Erich Bernd; Sturm,... Journal: Annals of clinical and translational neurology Issue: Volume 6:Issue 7(2019) Page Start: 1319 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Loss of NFAT2 expression results in the acceleration of clonal evolution in chronic lymphocytic leukemia. Issue 3 (17th December 2018) Authors: Müller, David J.; Wirths, Stefan; Fuchs, Alexander R.; Märklin, Melanie; Heitmann, Jonas S.; Sturm, Marc; Haap, Michael; Kirschniak, Andreas; Sasaki, Yoshiteru; Kanz, Lothar; Kopp, Hans‐Georg; Müller, Martin R. Journal: Journal of leukocyte biology Issue: Volume 105:Issue 3(2019) Page Start: 531 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗