| GRIN2A-related disorders: genotype and functional consequence predict phenotype V Strehlow, HO Heyne, DRM Vlaskamp, KFM Marwick, G Rudolf, ... Brain 142 (1), 80-92, 2019 | 198 | 2019 |
| Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases PC Marcogliese, SL Deal, J Andrews, JM Harnish, VH Bhavana, ... Cell reports 38 (11), 2022 | 31 | 2022 |
| Inhibition of Human Neutrophil Elastase by α1-Antitrypsin Functionalized Colloidal Microcarriers U Reibetanz, M Schonberg, S Rathmann, V Strehlow, M Gose, J Leßig ACS nano 6 (7), 6325-6336, 2012 | 26 | 2012 |
| Generalized epilepsy and myoclonic seizures in 22q11. 2 deletion syndrome V Strehlow, MEM Swinkels, RH Thomas, N Rapps, S Syrbe, T Dorn, ... Molecular syndromology 7 (4), 239-246, 2016 | 25 | 2016 |
| CERT1 mutations perturb human development by disrupting sphingolipid homeostasis C Gehin, MA Lone, W Lee, L Capolupo, S Ho, AM Adeyemi, EH Gerkes, ... The Journal of clinical investigation 133 (10), 2023 | 17 | 2023 |
| 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 | 16 | 2021 |
| Development of LbL biopolymer capsules as a delivery system for the multilayer-assembled anti-inflammatory substance α1-antitrypsin V Strehlow, J Lessig, M Göse, U Reibetanz Journal of Materials Chemistry B 1 (30), 3633-3643, 2013 | 14 | 2013 |
| GestaltMatcher Database-a FAIR database for medical imaging data of rare disorders. H Lesmann, GJ Lyon, P Caro, IM Abdelrazek, S Moosa, JT Pantel, ... MedRxiv: The Preprint Server for Health Sciences, 2023 | 13 | 2023 |
| Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings A Schmidt, M Danyel, K Grundmann, T Brunet, H Klinkhammer, TC Hsieh, ... Nature genetics, 1-10, 2024 | 8 | 2024 |
| KCNT2‐Related Disorders: Phenotypes, Functional, and Pharmacological Properties MC Cioclu, I Mosca, P Ambrosino, D Puzo, A Bayat, SB Wortmann, J Koch, ... Annals of Neurology 94 (2), 332-349, 2023 | 8 | 2023 |
| Compound‐heterozygous GRIN2A null variants associated with severe developmental and epileptic encephalopathy V Strehlow, C Rieubland, S Gallati, S Kim, SJ Myers, V Peterson, ... Epilepsia 63 (10), e132-e137, 2022 | 8 | 2022 |
| The spectrum of GRIN2A-associated disorders V Strehlow, HO Heyne, JR Lemke Epileptologie 32 (3), 147-151, 2015 | 8 | 2015 |
| 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 |
| 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 |
| Clinical impact of polygenic risk score for breast cancer risk prediction in 382 individuals with hereditary breast and ovarian cancer syndrome S Stiller, S Drukewitz, K Lehmann, J Hentschel, V Strehlow Cancers 15 (15), 3938, 2023 | 4 | 2023 |
| Drug-induced loss of preexcitation in pediatric patients with WPW pattern during electrophysiologic study C Paech, F Wagner, V Strehlow, RA Gebauer Pediatric Cardiology 40, 194-197, 2019 | 4 | 2019 |
| Full ablative versus fractional ablative laser therapy for Dowling–Degos disease AT Seitz, H Sterz, V Strehlow, S Nagel, K Dumann, S Grunewald, ... Lasers in Surgery and Medicine 51 (4), 321-324, 2019 | 3 | 2019 |
| GestaltMatcher Database-A global reference for facial phenotypic variability in rare human diseases H Lesmann, A Hustinx, S Moosa, H Klinkhammer, E Marchi, P Caro, ... medRxiv, 2024 | 1 | 2024 |
| 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 |
