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Altered gene expression profiles impair the nervous system development in individuals with 15q13.3 microdeletion.
Published in:
Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-17604-2
By:
- Körner, Marek B.;
- Velluva, Akhil;
- Bundalian, Linnaeus;
- Radtke, Maximilian;
- Lin, Chen-Ching;
- Zacher, Pia;
- Bartolomaeus, Tobias;
- Kirstein, Anna S.;
- Mrestani, Achmed;
- Scholz, Nicole;
- Platzer, Konrad;
- Teichmann, Anne-Christin;
- Hentschel, Julia;
- Langenhan, Tobias;
- Lemke, Johannes R.;
- Garten, Antje;
- Abou Jamra, Rami;
- Le Duc, Diana
Publication type:
Article
Altered gene expression profiles impair the nervous system development in individuals with 15q13.3 microdeletion.
Published in:
Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-17604-2
By:
- Körner, Marek B.;
- Velluva, Akhil;
- Bundalian, Linnaeus;
- Radtke, Maximilian;
- Lin, Chen-Ching;
- Zacher, Pia;
- Bartolomaeus, Tobias;
- Kirstein, Anna S.;
- Mrestani, Achmed;
- Scholz, Nicole;
- Platzer, Konrad;
- Teichmann, Anne-Christin;
- Hentschel, Julia;
- Langenhan, Tobias;
- Lemke, Johannes R.;
- Garten, Antje;
- Abou Jamra, Rami;
- Le Duc, Diana
Publication type:
Article
Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy.
Published in:
2022
By:
- Ahring, Philip K;
- Liao, Vivian W Y;
- Gardella, Elena;
- Johannesen, Katrine M;
- Krey, Ilona;
- Selmer, Kaja K;
- Stadheim, Barbro F;
- Davis, Hannah;
- Peinhardt, Charlotte;
- Koko, Mahmoud;
- Coorg, Rohini K;
- Syrbe, Steffen;
- Bertsche, Astrid;
- Santiago-Sim, Teresa;
- Diemer, Tue;
- Fenger, Christina D;
- Platzer, Konrad;
- Eichler, Evan E;
- Lerche, Holger;
- Lemke, Johannes R
Publication type:
journal article
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.
Published in:
2020
By:
- Mochel, Fanny;
- Rastetter, Agnès;
- Ceulemans, Berten;
- Platzer, Konrad;
- Yang, Sandra;
- Shinde, Deepali N;
- Helbig, Katherine L;
- Lopergolo, Diego;
- Mari, Francesca;
- Renieri, Alessandra;
- Benetti, Elisa;
- Canitano, Roberto;
- Waisfisz, Quinten;
- Plomp, Astrid S;
- Huisman, Sylvia A;
- Wilson, Golder N;
- Cathey, Sara S;
- Louie, Raymond J;
- Gaudio, Daniela Del;
- Waggoner, Darrel
Publication type:
journal article
GRIN2A-related disorders: genotype and functional consequence predict phenotype.
Published in:
2019
By:
- Strehlow, Vincent;
- Heyne, Henrike O;
- Vlaskamp, Danique R M;
- Marwick, Katie F M;
- Rudolf, Gabrielle;
- Bellescize, Julitta de;
- Biskup, Saskia;
- Brilstra, Eva H;
- Brouwer, Oebele F;
- Callenbach, Petra M C;
- Hentschel, Julia;
- Hirsch, Edouard;
- Kind, Peter C;
- Mignot, Cyril;
- Platzer, Konrad;
- Rump, Patrick;
- Skehel, Paul A;
- Wyllie, David J A;
- Hardingham, Giles E;
- Ravenswaaij-Arts, Conny M A van
Publication type:
journal article
A misplaced lncRNA causes brachydactyly in humans.
Published in:
2012
By:
- Maass PG;
- Rump A;
- Schulz H;
- Stricker S;
- Schulze L;
- Platzer K;
- Aydin A;
- Tinschert S;
- Goldring MB;
- Luft FC;
- Bähring S;
- Maass, Philipp G;
- Rump, Andreas;
- Schulz, Herbert;
- Stricker, Sigmar;
- Schulze, Lisanne;
- Platzer, Konrad;
- Aydin, Atakan;
- Tinschert, Sigrid;
- Goldring, Mary B
Publication type:
journal article
A misplaced IncRNA causes brachydactyly in humans.
Published in:
Journal of Clinical Investigation, 2012, v. 122, n. 11, p. 3990, doi. 10.1172/JCI65508
By:
- Maass, Philipp G.;
- Rump, Andreas;
- Schulz, Herbert;
- Stricker, Sigmar;
- Schulze, Lisanne;
- Platzer, Konrad;
- Aydin, Atakan;
- Tinschert, Sigrid;
- Goldring, Mary B.;
- Luft, Friedrich C.;
- Bähring, Sylvia
Publication type:
Article
Expanding the phenotype of TAB2 variants and literature review.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3331, doi. 10.1002/ajmg.a.62949
By:
- Woods, Emily;
- Marson, Imogen;
- Coci, Emanuele;
- Spiller, Michael;
- Kumar, Ajith;
- Brady, Angela;
- Homfray, Tessa;
- Fisher, Richard;
- Turnpenny, Peter;
- Rankin, Julia;
- Kanani, Farah;
- Platzer, Konrad;
- Ververi, Athina;
- Emmanouilidou, Eleftheria;
- Bourboun, Nourxan;
- Giannakoulas, George;
- Balasubramanian, Meena
Publication type:
Article
Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 1976, doi. 10.1002/ajmg.a.36592
By:
- Platzer, Konrad;
- Hüning, Irina;
- Obieglo, Carolin;
- Schwarzmayr, Thomas;
- Gabriel, Rainer;
- Strom, Tim M.;
- Gillessen‐Kaesbach, Gabriele;
- Kaiser, Frank J.
Publication type:
Article
Phenotype-tissue expression and exploration (PTEE) resource facilitates the choice of tissue for RNA-seq-based clinical genetics studies.
Published in:
BMC Genomics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s12864-021-08125-9
By:
- Velluva, Akhil;
- Radtke, Maximillian;
- Horn, Susanne;
- Popp, Bernt;
- Platzer, Konrad;
- Gjermeni, Erind;
- Lin, Chen-Ching;
- Lemke, Johannes R.;
- Garten, Antje;
- Schöneberg, Torsten;
- Blüher, Matthias;
- Abou Jamra, Rami;
- Le Duc, Diana
Publication type:
Article
CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online.
Published in:
Bioinformatics, 2023, v. 39, n. 5, p. 1, doi. 10.1093/bioinformatics/btad290
By:
- Macnee, Marie;
- Pérez-Palma, Eduardo;
- Brünger, Tobias;
- Klöckner, Chiara;
- Platzer, Konrad;
- Stefanski, Arthur;
- Montanucci, Ludovica;
- Bayat, Allan;
- Radtke, Maximilian;
- Collins, Ryan L;
- Talkowski, Michael;
- Blankenberg, Daniel;
- Møller, Rikke S;
- Lemke, Johannes R;
- Nothnagel, Michael;
- May, Patrick;
- Lal, Dennis
Publication type:
Article
Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies.
Published in:
PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0078496
By:
- Eisenberger, Tobias;
- Neuhaus, Christine;
- Khan, Arif O.;
- Decker, Christian;
- Preising, Markus N.;
- Friedburg, Christoph;
- Bieg, Anika;
- Gliem, Martin;
- Issa, Peter Charbel;
- Holz, Frank G.;
- Baig, Shahid M.;
- Hellenbroich, Yorck;
- Galvez, Alberto;
- Platzer, Konrad;
- Wollnik, Bernd;
- Laddach, Nadja;
- Ghaffari, Saeed Reza;
- Rafati, Maryam;
- Botzenhart, Elke;
- Tinschert, Sigrid
Publication type:
Article
Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 2, p. 180, doi. 10.1038/ejhg.2014.72
By:
- Beygo, Jasmin;
- Elbracht, Miriam;
- de Groot, Karel;
- Begemann, Matthias;
- Kanber, Deniz;
- Platzer, Konrad;
- Gillessen-Kaesbach, Gabriele;
- Vierzig, Anne;
- Green, Andrew;
- Heller, Raoul;
- Buiting, Karin;
- Eggermann, Thomas
Publication type:
Article
Frequency and characterization of DNA methylation defects in children born SGA.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 8, p. 838, doi. 10.1038/ejhg.2012.262
By:
- Bens, Susanne;
- Haake, Andrea;
- Richter, Julia;
- Leohold, Judith;
- Kolarova, Julia;
- Vater, Inga;
- Riepe, Felix G;
- Buiting, Karin;
- Eggermann, Thomas;
- Gillessen-Kaesbach, Gabriele;
- Platzer, Konrad;
- Prawitt, Dirk;
- Caliebe, Almuth;
- Siebert, Reiner
Publication type:
Article
Monogenetic epilepsies and how to approach them in 2022.
Published in:
Medizinische Genetik, 2022, v. 34, n. 3, p. 201, doi. 10.1515/medgen-2022-2143
By:
- Krey, Ilona;
- Platzer, Konrad;
- Lemke, Johannes R.
Publication type:
Article
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.
Published in:
Human Molecular Genetics, 2023, v. 32, n. 14, p. 2373, doi. 10.1093/hmg/ddad081
By:
- Teunissen, Maria W A;
- Lewerissa, Elly;
- Hugte, Eline J H van;
- Wang, Shan;
- Ockeloen, Charlotte W;
- Koolen, David A;
- Pfundt, Rolph;
- Marcelis, Carlo L M;
- Brilstra, Eva;
- Howe, Jennifer L;
- Scherer, Stephen W;
- Guillou, Xavier Le;
- Bilan, Frédéric;
- Primiano, Michelle;
- Roohi, Jasmin;
- Piton, Amelie;
- Martin, Anne de Saint;
- Baer, Sarah;
- Seiffert, Simone;
- Platzer, Konrad
Publication type:
Article
POU3F3‐related disorder: Defining the phenotype and expanding the molecular spectrum.
Published in:
Clinical Genetics, 2023, v. 104, n. 2, p. 186, doi. 10.1111/cge.14353
By:
- Rossi, Alessandra;
- Blok, Lot Snijders;
- Neuser, Sonja;
- Klöckner, Chiara;
- Platzer, Konrad;
- Faivre, Laurence Olivier;
- Weigand, Heike;
- Dentici, Maria L.;
- Tartaglia, Marco;
- Niceta, Marcello;
- Alfieri, Paolo;
- Srivastava, Siddharth;
- Coulter, David;
- Smith, Lacey;
- Vinorum, Kristin;
- Cappuccio, Gerarda;
- Brunetti‐Pierri, Nicola;
- Torun, Deniz;
- Arslan, Mutluay;
- Lauridsen, Mathilde F.
Publication type:
Article
De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission.
Published in:
Annals of Neurology, 2022, v. 92, n. 6, p. 958, doi. 10.1002/ana.26485
By:
- 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.
Publication type:
Article
Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up Development.
Published in:
2018
By:
- Mitter, Diana;
- Lemke, Johannes R.;
- Platzer, Konrad;
- Jamra, Rami;
- Ploos van Amstel, Hans K.;
- van der Smagt, Jasper J.;
- Stegmann, Alexander P. A.;
- Stumpel, Constance T. R. M.;
- Stevens, Servi J. C.;
- Oberndorff, Katrin;
- Marcelis, Carlo L.;
- Cogné, Benjamin;
- Vincent, Marie;
- Simonic, Ingrid;
- Hague, Jennifer;
- Park, Soo‐Mi;
- Park, Soo-Mi
Publication type:
journal article
GRIN2B mutations in west syndrome and intellectual disability with focal epilepsy.
Published in:
Annals of Neurology, 2014, v. 75, n. 1, p. 147, doi. 10.1002/ana.24073
By:
- 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;
- Jonghe, Peter;
- Biskup, Saskia;
- Weckhuysen, Sarah
Publication type:
Article
The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood.
Published in:
Biomedicines, 2020, v. 8, n. 11, p. 456, doi. 10.3390/biomedicines8110456
By:
- Döring, Jan Henje;
- Saffari, Afshin;
- Bast, Thomas;
- Brockmann, Knut;
- Ehrhardt, Laura;
- Fazeli, Walid;
- Janzarik, Wibke G.;
- Kluger, Gerhard;
- Muhle, Hiltrud;
- Møller, Rikke S.;
- Platzer, Konrad;
- Santos, Joana Larupa;
- Bache, Iben;
- Bertsche, Astrid;
- Bonfert, Michaela;
- Borggräfe, Ingo;
- Broser, Philip J.;
- Datta, Alexandre N.;
- Hammer, Trine Bjørg;
- Hartmann, Hans
Publication type:
Article
AutoCaSc: Prioritizing candidate genes for neurodevelopmental disorders.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 1795, doi. 10.1002/humu.24451
By:
- Lieberwirth, Johann Kaspar;
- Büttner, Benjamin;
- Klöckner, Chiara;
- Platzer, Konrad;
- Popp, Bernt;
- Abou Jamra, Rami
Publication type:
Article
WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly.
Published in:
Human Mutation, 2022, v. 43, n. 10, p. 1454, doi. 10.1002/humu.24430
By:
- Bögershausen, Nina;
- Krawczyk, Hannah E.;
- Jamra, Rami A.;
- Lin, Sheng‐Jia;
- Yigit, Gökhan;
- Hüning, Irina;
- Polo, Anna M.;
- Vona, Barbara;
- Huang, Kevin;
- Schmidt, Julia;
- Altmüller, Janine;
- Luppe, Johannes;
- Platzer, Konrad;
- Dörgeloh, Beate B.;
- Busche, Andreas;
- Biskup, Saskia;
- Mendes, Marisa I.;
- Smith, Desiree E. C.;
- Salomons, Gajja S.;
- Zibat, Arne
Publication type:
Article

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