Diagnostic value of partial exome sequencing in developmental disorders
Gieldon, Laura, Mackenroth, Luisa, Kahlert, Anne-Karin, Lemke, Johannes R, Porrmann, Joseph, Schallner, Jens, von der Hagen, Maja, Markus, Susanne, Weidensee, Sabine, Novotna, Barbara, Soerensen, Charlotte, Klink, Barbara, Wagner, Johannes, Tzschach, Andreas, Jahn, Arne, Kuhlee, Franziska, Hackmann, Karl, Schrock, Evelin, Di Donato, Nataliya, Rump, Andreas
Published in PloS one (09.08.2018)
Published in PloS one (09.08.2018)
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Journal Article
Precision Medicine in Angelman Syndrome
Manssen, Lena, Krey, Ilona, Gburek-Augustat, Janina, von Hagen, Cornelia, Lemke, Johannes R, Merkenschlager, Andreas, Weigand, Heike, Makowski, Christine
Published in Neuropediatrics (28.09.2024)
Published in Neuropediatrics (28.09.2024)
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Journal Article
GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers
Li, Dong, Yuan, Hongjie, Ortiz-Gonzalez, Xilma R., Marsh, Eric D., Tian, Lifeng, McCormick, Elizabeth M., Kosobucki, Gabrielle J., Chen, Wenjuan, Schulien, Anthony J., Chiavacci, Rosetta, Tankovic, Anel, Naase, Claudia, Brueckner, Frieder, von Stülpnagel-Steinbeis, Celina, Hu, Chun, Kusumoto, Hirofumi, Hedrich, Ulrike B.S., Elsen, Gina, Hörtnagel, Konstanze, Aizenman, Elias, Lemke, Johannes R., Hakonarson, Hakon, Traynelis, Stephen F., Falk, Marni J.
Published in American journal of human genetics (06.10.2016)
Published in American journal of human genetics (06.10.2016)
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Journal Article
De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission
Platzer, Konrad, Sticht, Heinrich, Bupp, Caleb, Ganapathi, Mythily, Pereira, Elaine M., Le Guyader, Gwenaël, Bilan, Frederic, Henderson, Lindsay B., Lemke, Johannes R., Taschenberger, Holger, Brose, Nils, Abou Jamra, Rami, Wojcik, Sonja M.
Published in Annals of neurology (01.12.2022)
Published in Annals of neurology (01.12.2022)
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Journal Article
Predicting functional effects of missense variants in voltage-gated sodium and calcium channels
Heyne, Henrike O, Baez-Nieto, David, Iqbal, Sumaiya, Palmer, Duncan S, Brunklaus, Andreas, May, Patrick, Johannesen, Katrine M, Lauxmann, Stephan, Lemke, Johannes R, Møller, Rikke S, Pérez-Palma, Eduardo, Scholl, Ute I, Syrbe, Steffen, Lerche, Holger, Lal, Dennis, Campbell, Arthur J, Wang, Hao-Ran, Pan, Jen, Daly, Mark J
Published in Science translational medicine (12.08.2020)
Published in Science translational medicine (12.08.2020)
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Journal Article
De novo variants in neurodevelopmental disorders with epilepsy
Heyne, Henrike O., Singh, Tarjinder, Stamberger, Hannah, Abou Jamra, Rami, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Guerrini, Renzo, Helbig, Katherine L., Koeleman, Bobby P. C., Kosmicki, Jack A., Linnankivi, Tarja, May, Patrick, Muhle, Hiltrud, Møller, Rikke S., Neubauer, Bernd A., Palotie, Aarno, Pendziwiat, Manuela, Striano, Pasquale, Tang, Sha, Wu, Sitao, Poduri, Annapurna, Weber, Yvonne G., Weckhuysen, Sarah, Sisodiya, Sanjay M., Daly, Mark J., Helbig, Ingo, Lal, Dennis, Lemke, Johannes R.
Published in Nature genetics (01.07.2018)
Published in Nature genetics (01.07.2018)
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Journal Article
Michael’s missed genetic diagnosis
Lemke, Johannes R., Brandt, Christian, Krawitz, Peter
Published in Clinical Epileptology (01.11.2024)
Published in Clinical Epileptology (01.11.2024)
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Journal Article
Diagnostic and Prognostic Value of CEA and CA19-9 in Colorectal Cancer
Lakemeyer, Leilani, Sander, Silvia, Wittau, Mathias, Henne-Bruns, Doris, Kornmann, Marko, Lemke, Johannes
Published in Diseases (17.03.2021)
Published in Diseases (17.03.2021)
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Journal Article
GRIN2B mutations in west syndrome and intellectual disability with focal epilepsy
Lemke, Johannes R., Hendrickx, Rik, Geider, Kirsten, Laube, Bodo, Schwake, Michael, Harvey, Robert J., James, Victoria M., Pepler, Alex, Steiner, Isabelle, Hörtnagel, Konstanze, Neidhardt, John, Ruf, Susanne, Wolff, Markus, Bartholdi, Deborah, Caraballo, Roberto, Platzer, Konrad, Suls, Arvid, De Jonghe, Peter, Biskup, Saskia, Weckhuysen, Sarah
Published in Annals of neurology (01.01.2014)
Published in Annals of neurology (01.01.2014)
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Journal Article
Exome first approach to reduce diagnostic costs and time - retrospective analysis of 111 individuals with rare neurodevelopmental disorders
Klau, Julia, Abou Jamra, Rami, Radtke, Maximilian, Oppermann, Henry, Lemke, Johannes R, Beblo, Skadi, Popp, Bernt
Published in European journal of human genetics : EJHG (01.01.2022)
Published in European journal of human genetics : EJHG (01.01.2022)
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Journal Article
Online deployment of an O‐PLS model for dielectric spectroscopy‐based inline monitoring of viable cell concentrations in Chinese hamster ovary cell perfusion cultivations
Lemke, Johannes, Söldner, Robert, Austerjost, Jonas
Published in Engineering in life sciences (01.06.2023)
Published in Engineering in life sciences (01.06.2023)
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Journal Article
De novo GABRG2 mutations associated with epileptic encephalopathies
Shen, Dingding, Hernandez, Ciria C, Shen, Wangzhen, Hu, Ningning, Poduri, Annapurna, Shiedley, Beth, Rotenberg, Alex, Datta, Alexandre N, Leiz, Steffen, Patzer, Steffi, Boor, Rainer, Ramsey, Kerri, Goldberg, Ethan, Helbig, Ingo, Ortiz-Gonzalez, Xilma R, Lemke, Johannes R, Marsh, Eric D, Macdonald, Robert L
Published in Brain (London, England : 1878) (01.01.2017)
Published in Brain (London, England : 1878) (01.01.2017)
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Journal Article
De novo gain‐of‐function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy
Ambrosino, Paolo, Soldovieri, Maria Virginia, Bast, Thomas, Turnpenny, Peter D., Uhrig, Sabine, Biskup, Saskia, Döcker, Miriam, Fleck, Thilo, Mosca, Ilaria, Manocchio, Laura, Iraci, Nunzio, Taglialatela, Maurizio, Lemke, Johannes R.
Published in Annals of neurology (01.06.2018)
Published in Annals of neurology (01.06.2018)
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Journal Article
Epicatechin gallate and catechin gallate are superior to epigallocatechin gallate in growth suppression and anti‐inflammatory activities in pancreatic tumor cells
Kürbitz, Claudia, Heise, Daniel, Redmer, Torben, Goumas, Freya, Arlt, Alexander, Lemke, Johannes, Rimbach, Gerald, Kalthoff, Holger, Trauzold, Anna
Published in Cancer science (01.04.2011)
Published in Cancer science (01.04.2011)
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Journal Article
Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes
Brünger, Tobias, Pérez-Palma, Eduardo, Montanucci, Ludovica, Nothnagel, Michael, Møller, Rikke S, Schorge, Stephanie, Zuberi, Sameer, Symonds, Joseph, Lemke, Johannes R, Brunklaus, Andreas, Traynelis, Stephen F, May, Patrick, Lal, Dennis
Published in Brain (London, England : 1878) (01.03.2023)
Published in Brain (London, England : 1878) (01.03.2023)
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Journal Article