| 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 | 41 | 2021 |
| Mutations of the transcriptional corepressor ZMYM2 cause syndromic urinary tract malformations DM Connaughton, R Dai, DJ Owen, J Marquez, N Mann, ... The American Journal of Human Genetics 107 (4), 727-742, 2020 | 29 | 2020 |
| RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood S Zagaglia, D Steel, S Krithika, L Hernandez-Hernandez, HM Custodio, ... Neurology 96 (11), e1539-e1550, 2021 | 19 | 2021 |
| De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features D Lehalle, P Vabres, A Sorlin, T Bierhals, M Avila, V Carmignac, ... Journal of medical genetics 57 (12), 808-819, 2020 | 15 | 2020 |
| De novo variants in ATP2B1 lead to neurodevelopmental delay MJ Rahimi, N Urban, M Wegler, H Sticht, M Schaefer, B Popp, F Gaunitz, ... The American Journal of Human Genetics 109 (5), 944-952, 2022 | 14 | 2022 |
| Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy MS Paul, AR Duncan, CA Genetti, H Pan, A Jackson, PE Grant, J Shi, ... The American Journal of Human Genetics 110 (1), 120-145, 2023 | 13 | 2023 |
| Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia H Morsy, M Benkirane, E Cali, C Rocca, K Zhelcheska, V Cipriani, ... Genetics in Medicine 25 (1), 76-89, 2023 | 12 | 2023 |
| Re-evaluation and re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18% T Bartolomaeus, J Hentschel, RA Jamra, B Popp European Journal of Human Genetics 31 (10), 1154-1164, 2023 | 11 | 2023 |
| Genome Sequencing for Diagnosing Rare Diseases MH Wojcik, G Lemire, E Berger, MS Zaki, M Wissmann, W Win, SM White, ... New England Journal of Medicine 390 (21), 1985-1997, 2024 | 7 | 2024 |
| Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders I Halfmeyer, T Bartolomaeus, B Popp, M Radtke, T Helms, J Hentschel, ... Genes 14 (1), 30, 2022 | 6 | 2022 |
| 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 |
| Scientific evaluation of negative exome sequencing followed by systematic scoring of candidate genes to decipher the genetics of neurodevelopmental disorders B Büttner, S Martin, A Finck, M Arelin, C Baade-Büttner, T Bartolomaeus, ... BioRxiv, 588517, 2019 | 4 | 2019 |
| Altered gene expression profiles impair the nervous system development in individuals with 15q13. 3 microdeletion MB Körner, A Velluva, L Bundalian, M Radtke, CC Lin, P Zacher, ... Scientific reports 12 (1), 13507, 2022 | 3 | 2022 |
| Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity SJ Lin, B Vona, T Lau, K Huang, MS Zaki, HS Aldeen, EG Karimiani, ... Genome Medicine 15 (1), 102, 2023 | 1 | 2023 |
| The constitutional gain‐of‐function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome B Popp, M Brugger, S Poschmann, T Bartolomaeus, M Radtke, ... Clinical Genetics 103 (2), 226-230, 2023 | 1 | 2023 |
| A novel syndrome caused by the constitutional gain-of-function variant p.Glu1099Lys in NSD2 B Popp, M Brugger, S Poschmann, T Bartolomaeus, M Radtke, ... medRxiv, 2022.02. 23.22271353, 2022 | 1 | 2022 |
| Cohort expansion and genotype-phenotype analysis of RAB11A-associated neurodevelopmental disorder MC Borroto, H Patel, S Srivastava, LC Swanson, B Keren, S Whalen, ... Pediatric neurology 160, 45-53, 2024 | | 2024 |
| 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 |
| Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy (vol 110, pg 120, 2023) CA Genetti, M Pinelli, N Brunetti-Pierri, A Garza-Flores, D Shahani, ... American Journal of Human Genetics 110 (3), 548-548, 2023 | | 2023 |
| 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 |
