Sturm, Julia; Milera, Heiko; Essmann, Stephanie et al.
A single center experience in 90 cases with nonimmune hydrops fetalis: diagnostic categories - mostly aneuploidy and still often idiopathicJOURNAL OF PERINATAL MEDICINE. Bd. 50. H. 7. 2022 S. 985-992
Aghayeva, Fidan A.; Schuster, Alexander K.; Diel, Heidi et al.
Childhood glaucoma registry in Germany: initial database, clinical care and research (pilot study)BMC RESEARCH NOTES. Bd. 15. H. 1. 2022
Stingl, Julia V.; Diederich, Stefan; Diel, Heidi et al.
First Results from the Prospective German Registry for Childhood Glaucoma: Phenotype-Genotype AssociationJOURNAL OF CLINICAL MEDICINE. Bd. 11. H. 1. 2022
Gerber, Celine B.; Fliedner, Anna; Bartsch, Oliver et al.
Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6CLINICAL GENETICS. 2022
Horenko, Illia; Pospisil, Lukas; Vecchi, Edoardo et al.
Low-Cost Probabilistic 3D Denoising with Applications for Ultra-Low-Radiation Computed TomographyJOURNAL OF IMAGING. Bd. 8. H. 6. 2022
Galetzka, Danuta; Boeck, Julia; Wagner, Lukas et al.
p HYPERMETHYLATION OF RAD9A INTRON 2 IN CHILDHOOD CANCER PATIENTS, LEUKEMIA AND TUMOR CELL LINES SUGGEST A ROLE FOR ONCOGENIC TRANSFORMATIONEXCLI JOURNAL. Bd. 21. 2022 S. 117-143
Doria, Halina Binde; Caliendo, Cosima; Gerber, Susanne et al.
Photoperiod is an important seasonal selection factor in Chironomus riparius (Diptera: Chironomidae)BIOLOGICAL JOURNAL OF THE LINNEAN SOCIETY. Bd. 135. H. 2. 2022 S. 277-290
Guilherme, Malena dos Santos; Valeri, Francesco; Winter, Jennifer et al.
Resilience and the Gut Microbiome: Insights from Chronically Socially Stressed Wild-Type MiceMICROORGANISMS. Bd. 10. H. 6. 2022
Guilherme, Malena Dos Santos; Tsoutsouli, Theodora; Chongtham, Monika Chanu et al.
Selective targeting of chronic social stress-induced activated neurons identifies neurogenesis-related genes to be associated with resilience in female micePSYCHONEUROENDOCRINOLOGY. Bd. 139. 2022
Douzgou, Sofia; Dell'Oro, Janet; Fonseca, Cristina Rodriguez et al.
The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experienceEUROPEAN JOURNAL OF HUMAN GENETICS. Bd. 30. H. 7. 2022 S. 841-847
Rodrigues, Davi Rohe; Everschor-Sitte, Karin; Gerber, Susanne et al.
A deeper look into natural sciences with physics-based and data-driven measuresISCIENCE. Bd. 24. H. 3. 2021
Frommherz, L.; Komlosi, K.; Dewenter, M. et al.
Amino Acid Substitution in the C-terminus of Keratin 2 causes dominant acral IchthyosisJOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT. Bd. 19. 2021 S. 7-7
Pascual Cuadrado, Diego; Wierczeiko, Anna; Hewel, Charlotte et al.
Dichotomic Hippocampal Transcriptome After Glutamatergic vs. GABAergic Deletion of the Cannabinoid CB1 ReceptorFRONTIERS IN SYNAPTIC NEUROSCIENCE. Bd. 13. 2021
Treccani, Giulia; Yigit, Hatice; Lingner, Thomas et al.
Early life adversity targets the transcriptional signature of hippocampal NG2+ glia and affects voltage gated sodium (Na-v) channels propertiesNEUROBIOLOGY OF STRESS. Bd. 15. 2021
Treccani, G.; Yigit, H.; Lingner, T. et al.
Early life stress targets the transcriptional signature and functional properties of voltage gated-sodium (nav) channels in hippocampal NG2+GLIAEUROPEAN NEUROPSYCHOPHARMACOLOGY. Bd. 53. 2021 S. S136-S137
Diel, Heidi; Ding, Can; Grehn, Franz et al.
First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature reviewBMC OPHTHALMOLOGY. Bd. 21. H. 1. 2021
Diel, Heidi; Ding, Can; Grehn, Franz et al.
First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review (vol 21, 28, 2021)BMC OPHTHALMOLOGY. Bd. 21. H. 1. 2021 S. 0-0
Pfenninger, Markus; Reuss, Friederike; Kiebler, Angelika et al.
Genomic basis for drought resistance in European beech forests threatened by climate changeELIFE. Bd. 10. 2021
Chongtham, Monika Chanu; Butto, Tamer; Mungikar, Kanak et al.
INTACT vs. FANS for Cell-Type-Specific Nuclei Sorting: A Comprehensive Qualitative and Quantitative ComparisonINTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. Bd. 22. H. 10. 2021
Ruffini, Nicolas; Mueller, Marianne; Schmitt, Ulrich et al.
IntelliPy: a GUI for analyzing IntelliCage dataBIOINFORMATICS. Bd. 37. H. 21. 2021 S. 3972-3973
Mueller-Calleja, Nadine; Hollerbach, Anne; Royce, Jennifer et al.
Lipid presentation by the protein C receptor links coagulation with autoimmunitySCIENCE. Bd. 371. H. 6534. 2021 S. 1121-+
Gerber, Susanne
Low-cost scalable discretization, prediction and feature selection for complex systemsScience Advances. Bd. Vol. 6. 2021 S. 5
Schuele, Martin; Butto, Tamer; Dewi, Sri et al.
mTOR Driven Gene Transcription Is Required for Cholesterol Production in Neurons of the Developing Cerebral CortexINTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. Bd. 22. H. 11. 2021
Guilherme, Malena dos Santos; Tsoutsouli, Theodora; Todorov, Hristo et al.
N-6 -Methyladenosine Modification in Chronic Stress Response Due to Social Hierarchy Positioning of MiceFRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY. Bd. 9. 2021
Olahova, Monika; Peter, Bradley; Szilagyi, Zsolt et al.
POLRMT mutations impair mitochondrial transcription causing neurological diseaseNATURE COMMUNICATIONS. Bd. 12. H. 1. 2021
Weissbach, Stephan; Sys, Stanislav; Hewel, Charlotte et al.
Reliability of genomic variants across different next-generation sequencing platforms and bioinformatic processing pipelinesBMC GENOMICS. Bd. 22. H. 1. 2021
Hoffmann, Esther M.; Aghayeva, Fidan; Schuster, Alexander K. et al.
Results of childhood glaucoma surgery over a long-term periodACTA OPHTHALMOLOGICA. Bd. 100. H. 2. 2021 S. E448-E454
Moreno-Martinez, D.; Aguiar, P.; Auray-Blais, C. et al.
Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensusMOLECULAR GENETICS AND METABOLISM. Bd. 132. H. 4. 2021 S. 234-243
Formes, Henning; Bernardes, Joana P.; Mann, Amrit et al.
The gut microbiota instructs the hepatic endothelial cell transcriptomeISCIENCE. Bd. 24. H. 10. 2021
Navandar, Mohit; Martin-Garcia, Elena; Maldonado, Rafael et al.
Transcriptional signatures in prefrontal cortex confer vulnerability versus resilience to food and cocaine addiction-like behaviorSCIENTIFIC REPORTS. Bd. 11. H. 1. 2021
Wierczeiko, Anna; Gammel, Lena; Radyushkin, Konstantin et al.
Voluntary Wheel Running Did Not Alter Gene Expression in 5xfad Mice, but in Wild-Type Animals Exclusively after One-Day of Physical ActivityCELLS. Bd. 10. H. 3. 2021
Ding, Can; Beetz, Rolf; Rittner, Gabriele et al.
A female with X-linked Nephrogenic diabetes insipidus in a family with inherited central diabetes Insipidus: Case report and review of the literatureAMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2020
Haeuser, Friederike; Goekce, Seyfullah; Werner, Gesa et al.
A non-invasive diagnostic assay for rapid detection and characterization of aberrant mRNA-splicing by nonsense mediated decay inhibitionMOLECULAR GENETICS AND METABOLISM. Bd. 130. H. 1. 2020 S. 27-35
Domingo-Rodriguez, Laura; Ruiz de Azua, Inigo; Dominguez, Eduardo et al.
A specific prelimbic-nucleus accumbens pathway controls resilience versus vulnerability to food addictionNATURE COMMUNICATIONS. Bd. 11. H. 1. 2020
Todorov, Hristo; Searle-White, Emily; Gerber, Susanne
Applying univariate vs. multivariate statistics to investigate therapeutic efficacy in (pre)clinical trials: A Monte Carlo simulation study on the example of a controlled preclinical neurotrauma trialPLOS ONE. Bd. 15. H. 3. 2020
Lorenzini, Tiziana; Fliegauf, Manfred; Klammer, Nils et al.
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutationsJOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. Bd. 146. H. 4. 2020 S. 901-911
Lorenzini, Tiziana; Fliegauf, Manfred; Klammer, Nils et al.
Characterization of the Clinical and Immunological Phenotype and Management of 157 Individuals with 56 Distinct Heterozygous NFKB1 MutationsJOURNAL OF CLINICAL IMMUNOLOGY. Bd. 40. H. SUPPL 1. 2020 S. S57-S59
Ruffini, Nicolas; Klingenberg, Susanne; Schweiger, Susann et al.
Common Factors in Neurodegeneration: A Meta-Study Revealing Shared Patterns on a Multi-Omics ScaleCELLS. Bd. 9. H. 12. 2020
Gerber, Susanne
Common Factors in Neurodegeneration: A Meta-Study revealing Shared Patterns on a Multi-Omics ScaleCells. Bd. 9 (12). 2020 S. 2642
Beheshtian, Maryam; Akhtarkhavari, Tara; Mehvari, Sepideh et al.
Comprehensivegenotype-phenotypecorrelation inAP-4 deficiency syndrome; Adding data from a large cohort of Iranian patientsCLINICAL GENETICS. 2020
Wendelmuth, M.; Wiliam, M.; Todorov, H. et al.
Dynamic longitudinal behavior in animals exposed to chronic social defeat stressPLOS ONE. Bd. 15. H. 7. 2020
Gerber, Susanne; Wendelmuth, Marlon; Willam, Michael et al.
Dynamic longitudinal behaviour in animals exposed to chronic social defeat stressPlos One. Bd. 15. 2020 S. 7
Gomez, R.; Hafezi, N.; Amrani, M. et al.
Genetic findings in miscarriages and their relation to the number of previous miscarriagesARCHIVES OF GYNECOLOGY AND OBSTETRICS. 2020
Kiouptsi, Klytaimnistra; Pontarollo, Giulia; Todorov, Hristo et al.
Germ-free housing conditions do not affect aortic root and aortic arch lesion size of late atherosclerotic low-density lipoprotein receptor-deficient miceGUT MICROBES. Bd. 11. H. 6. 2020 S. 1809-1823
Gucev, Zoran; Tasic, Velibor; Bogevska, Ivona et al.
Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutationEUROPEAN JOURNAL OF MEDICAL GENETICS. Bd. 63. H. 1. 2020
Guilherme, Malena dos Santos; Todorov, Hristo; Osterhof, Carina et al.
Impact of Acute and Chronic Amyloid-beta Peptide Exposure on Gut Microbial Commensals in the MouseFRONTIERS IN MICROBIOLOGY. Bd. 11. 2020
Cooper, Alexis; Butto, Tamer; Hammer, Niklas et al.
Inhibition of histone deacetylation rescues phenotype in a mouse model of Birk-Barel intellectual disability syndromeNATURE COMMUNICATIONS. Bd. 11. H. 1. 2020
Fischer, Caroline; Endle, Heiko; Schumann, Lana et al.
Prevention of age-associated neuronal hyperexcitability with improved learning and attention upon knockout or antagonism of LPAR2CELLULAR AND MOLECULAR LIFE SCIENCES. 2020
Casanovas, Sonia; Schlichtholz, Laura; Muehlbauer, Sophia et al.
Rbfox1 Is Expressed in the Mouse Brain in the Form of Multiple Transcript Variants and Contains Functional E Boxes in Its Alternative PromotersFRONTIERS IN MOLECULAR NEUROSCIENCE. Bd. 13. 2020
Suter, Aude-Annick; Santos-Simarro, Fernando; Toerring, Pernille Mathiesen et al.
Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individualsAMERICAN JOURNAL OF MEDICAL GENETICS PART A. Bd. 182. H. 9. 2020 S. 2068-2076