| The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals P Zacher, T Mayer, F Brandhoff, T Bartolomaeus, D Le Duc, M Finzel, ... Genetics in Medicine 23 (8), 1492-1497, 2021 | 35 | 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 | 31 | 2021 |
| De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy C Klöckner, H Sticht, P Zacher, B Popp, HE Babcock, DP Bakker, ... Genetics in Medicine 23 (4), 653-660, 2021 | 25 | 2021 |
| Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism M Chopra, M McEntagart, J Clayton-Smith, K Platzer, A Shukla, ... The American Journal of Human Genetics 108 (6), 1138-1150, 2021 | 17 | 2021 |
| Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia AM Muir, JF Gardner, RH van Jaarsveld, IM de Lange, JJ van der Smagt, ... Genetics in Medicine 23 (5), 881-887, 2021 | 15 | 2021 |
| Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11 TA Ravenscroft, JB Phillips, E Fieg, SS Bajikar, J Peirce, J Wegner, ... Genetics in medicine 23 (10), 1889-1900, 2021 | 14 | 2021 |
| 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 |
| 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 |
| 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 | 8 | 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| AutoCaSc: Prioritizing candidate genes for neurodevelopmental disorders B Popp, J Lieberwirth, B Benjamin, C Kl, RA Jamra | 1 | 2022 |
| Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy C Klöckner, H Sticht, P Zacher, B Popp, HE Babcock, DP Bakker, ... Genetics in Medicine 23 (4), 796-796, 2021 | 1 | 2021 |
| 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, 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 |
