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Rinaldi, Berardo; Bayat, Allan; Zachariassen, Linda G; Sun, Jia-Hui; Ge, Yu-Han; Zhao, Dan; Bonde, Kristine; Madsen, Laura H; Awad, Ilham Abdimunim Ali; Bagiran, Duygu; Sbeih, Amal; Shah, Syeda Maidah; El-Sayed, Shaymaa; Lyngby, Signe M; Pedersen, Miriam G; Stenum-Berg, Charlotte; Walker, Louise Claudia; Krey, Ilona; Delahaye-Duriez, Andrée; Emrick, Lisa T; ... (2024). Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes. Brain : a journal of neurology, 147(5), pp. 1837-1855. Oxford University Press 10.1093/brain/awad403
Saffari, Afshin; Lau, Tracy; Tajsharghi, Homa; Karimiani, Ehsan Ghayoor; Kariminejad, Ariana; Efthymiou, Stephanie; Zifarelli, Giovanni; Sultan, Tipu; Toosi, Mehran Beiraghi; Sedighzadeh, Sahar; Siu, Victoria Mok; Ortigoza-Escobar, Juan Darío; AlShamsi, Aisha M; Ibrahim, Shahnaz; Al-Sannaa, Nouriya Abbas; Al-Hertani, Walla; Sandra, Whalen; Tarnopolsky, Mark; Alavi, Shahryar; Li, Chumei; ... (2023). The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain : a journal of neurology, 146(8), pp. 3273-3288. Oxford University Press 10.1093/brain/awad039
Postma, Alex V; Rapp, Christina K; Knoflach, Katrin; Volk, Alexander E; Lemke, Johannes R; Ackermann, Maximilian; Regamey, Nicolas; Latzin, Philipp; Celant, Lucas; Jansen, Samara M A; Bogaard, Harm J; Ilgun, Aho; Alders, Mariëlle; van Spaendonck-Zwarts, Karin Y; Jonigk, Danny; Klein, Christoph; Gräf, Stefan; Kubisch, Christian; Houweling, Arjan C and Griese, Matthias (2023). Biallelic variants in the calpain regulatory subunit CAPNS1 cause pulmonary arterial hypertension. Genetics in medicine open, 1(1), p. 100811. Elsevier 10.1016/j.gimo.2023.100811
Strehlow, Vincent; Rieubland, Claudine; Gallati, Sabrina; Kim, Sukhan; Myers, Scott J; Peterson, Vincent; Ramsey, Amy J; Teuscher, Daniel D; Traynelis, Stephen F; Lemke, Johannes R (2022). Compound-heterozygous GRIN2A null variants associated with severe developmental and epileptic encephalopathy. Epilepsia, 63(10), e132-e137. Wiley-Blackwell 10.1111/epi.17394
Gregor, Anne; Meerbrei, Tanja; Gerstner, Thorsten; Toutain, Annick; Lynch, Sally Ann; Stals, Karen; Maxton, Caroline; Lemke, Johannes R; Bernat, John A; Bombei, Hannah M; Foulds, Nicola; Hunt, David; Kuechler, Alma; Beygo, Jasmin; Stöbe, Petra; Bouman, Arjan; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Garcia-Minaur, Sixto; Pacio-Miguez, Marta; ... (2022). De novo missense variants in FBXO11 alter its protein expression and subcellular localization. Human molecular genetics, 31(3), pp. 440-454. Oxford University Press 10.1093/hmg/ddab265
Kortüm, Fanny; Jamra, Rami Abou; Alawi, Malik; Berry, Susan A; Borck, Guntram; Helbig, Katherine L; Tang, Sha; Huhle, Dagmar; Korenke, Georg Christoph; Hebbar, Malavika; Shukla, Anju; Girisha, Katta M; Steinlin, Maja; Waldmeier-Wilhelm, Sandra; Montomoli, Martino; Guerrini, Renzo; Lemke, Johannes R; Kutsche, Kerstin (2018). Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9. European journal of human genetics, 26(5), pp. 695-708. Nature Publishing Group 10.1038/s41431-018-0098-2
Cassatella, Daniele; Howard, Sasha R; Acierno, James S; Xu, Cheng; Papadakis, Georgios E; Santoni, Federico A; Dwyer, Andrew A; Santini, Sara; Sykiotis, Gerasimos P; Chambion, Caroline; Meylan, Jenny; Marino, Laura; Favre, Lucie; Li, Jiankang; Liu, Xuanzhu; Zhang, Jianguo; Bouloux, Pierre-Marc; Geyter, Christian De; Paepe, Anne De; Dhillo, Waljit S; ... (2018). Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures. European journal of endocrinology, 178(4), pp. 377-388. BioScientifica Ltd. 10.1530/EJE-17-0568
Klingler, Jan-Helge; Krüger, Marie T; Lemke, Johannes R; Jilg, Cordula; Van Velthoven, Vera; Zentner, Josef; Neumann, Hartmut P H; Gläsker, Sven (2013). Sequence variations in the von Hippel-Lindau tumor suppressor gene in patients with intracranial aneurysms. Journal of stroke and cerebrovascular diseases, 22(4), pp. 437-43. New York, N.Y.: W.B. Saunders 10.1016/j.jstrokecerebrovasdis.2013.01.016
Lemke, Johannes R; Riesch, Erik; Scheurenbrand, Tim; Schubach, Max; Wilhelm, Christian; Steiner, Isabelle; Hansen, Jörg; Courage, Carolina; Gallati, Sabina; Bürki, Sarah; Strozzi, Susi; Simonetti, Barbara Goeggel; Grunt, Sebastian; Steinlin, Maja; Alber, Michael; Wolff, Markus; Klopstock, Thomas; Prott, Eva C; Lorenz, Rüdiger; Spaich, Christiane; ... (2012). Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia, 53(8), pp. 1387-98. Malden, Mass.: Wiley-Blackwell 10.1111/j.1528-1167.2012.03516.x
Goeggel Simonetti, Barbara; Rieubland, Claudine; Courage, Carolina; Strozzi, Susi; Tschumi, Sibylle; Gallati, Sabina; Lemke, Johannes R (2012). Duplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsy. Epilepsia, 53(12), pp. 2128-34. Malden, Mass.: Wiley-Blackwell 10.1111/j.1528-1167.2012.03676.x
Kousi, Maria; Anttila, Verneri; Schulz, Angela; Calafato, Stella; Jakkula, Eveliina; Riesch, Erik; Myllykangas, Liisa; Kalimo, Hannu; Topçu, Meral; Gökben, Sarenur; Alehan, Fusun; Lemke, Johannes R; Alber, Michael; Palotie, Aarno; Kopra, Outi; Lehesjoki, Anna-Elina (2012). Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene. Journal of medical genetics, 49(6), pp. 391-9. London: BMJ Publishing Group 10.1136/jmedgenet-2012-100859
Lemke, Johannes R; Beck-Wödl, Stefanie; Zankl, Andreas; Riegel, Mariluce; Krämer, Günter; Dorn, Thomas (2009). Juvenile myoclonic epilepsy with photosensitivity in a female with Velocardiofacial syndrome (del(22)(q11.2))--causal relationship or coincidence? Seizure - European journal of epilepsy, 18(9), pp. 660-3. Oxford: Elsevier 10.1016/j.seizure.2009.07.008
