| Clinical, neuroimaging, and molecular spectrum of TECPR2‐associated hereditary sensory and autonomic neuropathy with intellectual disability S Neuser, B Brechmann, G Heimer, I Brösse, S Schubert, L O'Grady, ... Human mutation 42 (6), 762-776, 2021 | 25 | 2021 |
| Pharmacological inhibition of focal segmental glomerulosclerosis‐related, gain of function mutants of TRPC6 channels by semi‐synthetic derivatives of larixol N Urban, S Neuser, A Hentschel, S Köhling, J Rademann, M Schaefer British journal of pharmacology 174 (22), 4099-4122, 2017 | 19 | 2017 |
| High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia D Ebrahimi-Fakhari, JE Alecu, B Brechmann, M Ziegler, K Eberhardt, ... Brain communications 3 (4), fcab221, 2021 | 12 | 2021 |
| 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 | 9 | 2022 |
| Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies J Schröter, B Popp, H Brennenstuhl, JH Döring, SH Donze, EK Bijlsma, ... European Journal of Human Genetics 30 (3), 298-306, 2022 | 9 | 2022 |
| The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15 A Saffari, M Kellner, C Jordan, H Rosengarten, A Mo, B Zhang, O Strelko, ... Brain 146 (5), 2003-2015, 2023 | 7 | 2023 |
| Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain S Neuser, I Krey, A Schwan, R Abou Jamra, T Bartolomaeus, J Döring, ... European Journal of Human Genetics 30 (1), 101-110, 2022 | 4 | 2022 |
| 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 | 1 | 2023 |
| Molecular and Phenotypic Characterization of the RORB-Related Disorder Z Gokce-Samar, A Vetro, J De Bellescize, T Pisano, L Monteiro, N Penaud, ... Neurology 102 (2), e207945, 2024 | | 2024 |
| De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children N Ahmad, W Fazeli, S Schließke, G Lesca, Z Gokce-Samar, KY Mekbib, ... Pediatric Neurology 148, 164-171, 2023 | | 2023 |
| The Clinical, Molecular and Neuroimaging Spectrum of ZFYVE26-Related Hereditary Spastic Paraplegia (SPG15)-A Cross-Sectional Analysis of 36 Patients A Saffari, S Neuser, O Strelko, A Mo, H Rosengarten, C Jordan, M Davis, ... ANNALS OF NEUROLOGY 92, S35-S35, 2022 | | 2022 |
| TECPR2-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability G Heimer, S Neuser, B Ben-Zeev, D Ebrahimi-Fakhari GeneReviews®[Internet], 2022 | | 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 |
| Prenatal phenotype of PNKP-related primary microcephaly associated with variants in the FHA domain I Krey, S Neuser, A Schwan, T Bartolomaeus, JH Doering, S Syrbe, ... EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 109-109, 2022 | | 2022 |
| Beyond founder and truncting variants in TECPR2-associated disorder S Neuser, B Brechmann, G Heimer, I Brosse, S Schubert, L O'Grady, ... | | 2022 |
| Complementing the Phenotypical Spectrum of TUBA1A Tubulinopathy and Its Role in Early-Onset Epilepsies J Schröter, B Popp, H Brennenstuhl, JH Döring, SH Donze, EK Bijlsma, ... Neuropediatrics 52 (S 01), FV2. 32, 2021 | | 2021 |
| High-Throughput Imaging of ATG9A Distribution as a Diagnostic Functional Assay for Adaptor Protein Complex 4: Associated Hereditary Spastic Paraplegia (AP-4-HSP) JE Alecu, M Ziegler, B Brechmann, K Eberhardt, H Jumo, A D’Amore, ... Neuropediatrics 52 (S 01), FV3. 03, 2021 | | 2021 |
| Prenatal phenotype of PNKP-related primary microcephaly associated with variants in the FHA and Phosphatase domain S Neuser, I Krey, A Schwan, RA Jamra, T Bartolomaeus, J Döring, ... medRxiv, 2021.09. 25.21261035, 2021 | | 2021 |
| High-Throughput Imaging of ATG9A Distribution as a Diagnostic Functional Assay for Adaptor Protein Complex 4-Associated Hereditary Spastic Paraplegia J Alecu, B Brechmann, M Ziegler, K Eberhardt, H Jumo, A D'Amore, ... ANNALS OF NEUROLOGY 90, S136-S136, 2021 | | 2021 |
| In cis TP53 and RAD51C pathogenic variants may predispose to sebaceous gland carcinomas D Le Duc, J Hentschel, S Neuser, M Stiller, C Meier, E Jäger, ... European Journal of Human Genetics 29 (3), 489-494, 2021 | | 2021 |
