Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity T Kalm, C Schob, H Völler, T Gardeitchik, C Gilissen, R Pfundt, C Klöckner, ... The American Journal of Human Genetics 111 (6), 1206-1221, 2024 | | 2024 |
Spectrum of NMDA Receptor Variants in Neurodevelopmental Disorders and Epilepsy CE Gjerulfsen, I Krey, C Klöckner, G Rubboli, JR Lemke, RS Møller NMDA Receptors: Methods and Protocols, 1-11, 2024 | | 2024 |
Distances from ligands as main predictive features for pathogenicity and functional effect of variants in NMDA receptors L Montanucci, T Brünger, N Bhattarai, CM Boßelmann, S Kim, JP Allen, ... medRxiv, 2024.05. 06.24306939, 2024 | | 2024 |
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals DE Layo-Carris, EE Lubin, AK Sangree, KJ Clark, EL Durham, ... European Journal of Human Genetics, 1-10, 2024 | | 2024 |
2000 trio exome sequencing on research base: output and outlook A Golod, B Buettner, A Finck, C Kloeckner, J Luppe, S Martin, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 476-476, 2024 | | 2024 |
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis A Stefanski, E Pérez-Palma, T Brünger, L Montanucci, C Gati, C Klöckner, ... Brain 146 (12), 5198-5208, 2023 | 2 | 2023 |
Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons CR Camp, A Vlachos, C Klöckner, I Krey, TG Banke, N Shariatzadeh, ... Communications Biology 6 (1), 952, 2023 | 5 | 2023 |
POU3F3‐related disorder: Defining the phenotype and expanding the molecular spectrum A Rossi, LS Blok, S Neuser, C Klöckner, K Platzer, LO Faivre, H Weigand, ... Clinical genetics 104 (2), 186-197, 2023 | 2 | 2023 |
CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online M Macnee, E Pérez-Palma, T Brünger, C Klöckner, K Platzer, A Stefanski, ... Bioinformatics 39 (5), btad290, 2023 | 7 | 2023 |
Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder F Roessler, AE Beck, B Susie, B Tobias, A Begtrup, S Biskup, O Caluseriu, ... American Journal of Medical Genetics Part A 191 (2), 469-478, 2023 | 7 | 2023 |
Identifizierung und Charakterisierung neuer Kandidatengene für neurologische Entwicklungsstörungen mittels Trio-Exom-Sequenzierung C Klöckner | | 2023 |
AutoCaSc: Prioritizing candidate genes for neurodevelopmental disorders JK Lieberwirth, B Büttner, C Klöckner, K Platzer, B Popp, R Abou Jamra Human Mutation 43 (12), 1795-1807, 2022 | 11 | 2022 |
Delineation of the epileptic and neurodevelopmental phenotype associated with germline variants of the RORB gene Z Gokce-Samar, A Vetro, J de Bellescize, D Sanlaville, T Pisano, C Korff, ... EPILEPSIA 63, 54-54, 2022 | | 2022 |
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome MA Cousin, EL Veale, NR Dsouza, S Tripathi, RG Holden, M Arelin, ... Genome medicine 14 (1), 62, 2022 | 11 | 2022 |
Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly C Klöckner, JP Fernández-Murray, M Tavasoli, H Sticht, ... Brain 145 (6), 1916-1923, 2022 | 6 | 2022 |
AutoCaSc: Prioritizing candidate genes for neurodevelopmental disorders B Popp, J Lieberwirth, B Benjamin, C Kl, RA Jamra | 1 | 2022 |
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum UD Hueffmeier, C Kraus, MS Reuter, S Uebe, MA Abbott, SA Ahmed, ... EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 246-247, 2022 | | 2022 |
Loss of Grin2a Causes a Transient Delay in the Electrophysiological Maturation of Hippocampal Parvalbumin Interneurons: A Possible Mechanism for Transient Seizure … CR Camp, A Vlachos, C Klöckner, I Krey, TG Banke, N Shariatzadeh, ... bioRxiv, 2021.12. 29.474447, 2021 | | 2021 |
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum U Hüffmeier, C Kraus, MS Reuter, S Uebe, MA Abbott, SA Ahmed, ... Orphanet journal of rare diseases 16, 1-9, 2021 | 7 | 2021 |
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations LH Rodan, RC Spillmann, HT Kurata, SM Lamothe, J Maghera, RA Jamra, ... Genetics in medicine 23 (10), 1922-1932, 2021 | 30 | 2021 |