Egg cell–secreted EC1 triggers sperm cell activation during double fertilization S Sprunck, S Rademacher, F Vogler, J Gheyselinck, U Grossniklaus, ... Science 338 (6110), 1093-1097, 2012 | 321 | 2012 |
Zygotic resetting of the HISTONE 3 variant repertoire participates in epigenetic reprogramming in Arabidopsis M Ingouff, S Rademacher, S Holec, L Šoljić, N Xin, A Readshaw, SH Foo, ... Current Biology 20 (23), 2137-2143, 2010 | 246 | 2010 |
A General G1/S-Phase Cell-Cycle Control Module in the Flowering Plant Arabidopsis thaliana XA Zhao, H Harashima, N Dissmeyer, S Pusch, AK Weimer, J Bramsiepe, ... Public Library of Science 8 (8), e1002847, 2012 | 128 | 2012 |
The beginning of a seed: regulatory mechanisms of double fertilization A Bleckmann, S Alter, T Dresselhaus Frontiers in plant science 5, 102751, 2014 | 96 | 2014 |
DroughtDB: an expert-curated compilation of plant drought stress genes and their homologs in nine species S Alter, KC Bader, M Spannagl, Y Wang, E Bauer, CC Schön, KFX Mayer Database 2015, bav046, 2015 | 95 | 2015 |
Stable Carbon Isotope Discrimination Is under Genetic Control in the C4 Species Maize with Several Genomic Regions Influencing Trait Expression S Gresset, P Westermeier, S Rademacher, M Ouzunova, T Presterl, ... Plant Physiology 164 (1), 131-143, 2014 | 43 | 2014 |
Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis A Hotz, E Bourrat, J Küsel, V Oji, S Alter, L Hake, M Korbi, H Ott, I Hausser, ... Human mutation 39 (10), 1305-1313, 2018 | 38 | 2018 |
Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients A Hotz, J Kopp, E Bourrat, V Oji, K Komlosi, K Giehl, B Bouadjar, A Bygum, ... Genes 12 (1), 80, 2021 | 29 | 2021 |
Downregulation of egg cell-secreted EC1 is accompanied with delayed gamete fusion and polytubey S Rademacher, S Sprunck Plant signaling & behavior 8 (12), e27377, 2013 | 27 | 2013 |
A novel LMNA nonsense mutation causes two distinct phenotypes of cardiomyopathy with high risk of sudden cardiac death in a large five-generation family CR Glöcklhofer, J Steinfurt, G Franke, A Hoppmann, T Glantschnig, ... Ep Europace 20 (12), 2003-2013, 2018 | 19 | 2018 |
SUPPRESSOR OF FRIGIDA (SUF4) Supports Gamete Fusion via Regulating Arabidopsis EC1 Gene Expression F Resentini, P Cyprys, JG Steffen, S Alter, P Morandini, C Mizzotti, A Lloyd, ... Plant Physiology 173 (1), 155-166, 2017 | 19 | 2017 |
Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4 N Ballin, A Hotz, E Bourrat, J Küsel, V Oji, B Bouadjar, D Brognoli, ... Human Mutation 40 (12), 2318-2333, 2019 | 15 | 2019 |
Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome is caused by de novo mutations in protein kinase D1 S Alter, AD Zimmer, M Park, J Gong, A Caliebe, R Fölster-Holst, A Torrelo, ... Journal of Medical Genetics 58 (6), 415-421, 2021 | 10 | 2021 |
Neonatal presentation of COG6‐CDG with prominent skin phenotype K Komlosi, S Gläser, J Kopp, A Hotz, S Alter, AD Zimmer, C Beger, ... JIMD reports 55 (1), 51-58, 2020 | 10 | 2020 |
Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia L Heinz, E Bourrat, P Vabres, J Thevenon, A Hotz, S Hörer, J Küsel, ... British Journal of Dermatology 180 (3), 657-661, 2019 | 9 | 2019 |
Novel VPS33B mutation in a patient with autosomal recessive keratoderma‐ichthyosis‐deafness syndrome S Alter, A Hotz, A Jahn, N Di Donato, E Schröck, M Smitka, ... American Journal of Medical Genetics Part A 176 (12), 2862-2866, 2018 | 9 | 2018 |
Mutational Spectrum of the ABCA12 Gene and Genotype–Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis A Hotz, J Kopp, E Bourrat, V Oji, K Süßmuth, K Komlosi, B Bouadjar, ... Genes 14 (3), 717, 2023 | 6 | 2023 |
Pathogenic variants in the SPTLC1 gene cause hyperkeratosis lenticularis perstans S Jägle, HH Hsu, HA Juratli, AD Zimmer, A Prieschl, S Alter, ... British Journal of Dermatology 188 (1), 94-99, 2023 | 4 | 2023 |
Case report: Diagnostic and therapeutic challenges in severe mechanobullous epidermolysis bullosa acquisita F Schauer, A Nyström, M Kunz, S Hübner, S Scholl, I Athanasiou, S Alter, ... Frontiers in Immunology 13, 883967, 2022 | 3 | 2022 |
Obsessive–compulsive symptoms in ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome T Göbel, L Berninger, A Schlump, B Feige, K Runge, K Nickel, MA Schiele, ... Journal of Neural Transmission 129 (11), 1387-1391, 2022 | 2 | 2022 |