Recent publications
2024
Enhanced variable selection for boosting sparser and less complex models in distributional copula regression
Annika Strömer, Nadja Klein, Christian Staerk, Florian Faschingbauer, Hannah Klinkhammer, et al.
arXiv preprint arXiv:2406.03900, 2024
Download/Link ↗Anchor regression to enhance transferability of genetic prediction models
Hannah Klinkhammer, Andreas Mayr, Carlo Maj, Peter M Krawitz, Christian Staerk
38th International Workshop on Statistical Modelling, 159, 2024
Download/Link ↗Genetic Prediction Modeling in Large Cohort Studies via Boosting Targeted Loss Functions
Hannah Klinkhammer, Christian Staerk, Carlo Maj, Peter M Krawitz, Andreas Mayr
Statistics in Medicine 43 (28), 5412-5430, 2024
Download/Link ↗Boosting distributional copula regression for bivariate binary, discrete and mixed responses
Guillermo Briseño Sanchez, Nadja Klein, Hannah Klinkhammer, Andreas Mayr
arXiv e-prints, arXiv: 2403.02194, 2024
Download/Link ↗Boosting Distributional Copula Regression for Bivariate Binary, Discrete and Mixed Responses
Guillermo Briseño Sanchez, Nadja Klein, Hannah Klinkhammer, Andreas Mayr
arXiv preprint arXiv:2403.02194, 2024
Download/Link ↗Associations between structural phenotype and pathway-specific polygenic risk scores in intermediate age-related macular degeneration–a MACUSTAR report
Lukas Schloesser, Jan Henrik Terheyden, Charlotte Behning, Hannah Klinkhammer, Davide Garzone, et al.
Investigative Ophthalmology & Visual Science 65 (7), 378-378, 2024
Download/Link ↗Generalizability of polygenic prediction models: how is the R2 defined on test data?
Christian Staerk, Hannah Klinkhammer, Tobias Wistuba, Carlo Maj, Andreas Mayr
BMC Medical Genomics 17 (1), 132, 2024
Download/Link ↗Analysis of Neural Video Compression Networks for 360-Degree Video Coding
Andy Regensky, Fabian Brand, André Kaup
arXiv preprint arXiv:2402.10257, 2024
Download/Link ↗Adaptive Variance-Threshold-Based Skip Modes for Learned Video Compression Using a Motion Complexity Criterion
Fabian Brand, Jürgen Seiler, Johannes Sauer, Elena Alshina, André Kaup
2024 Picture Coding Symposium (PCS), 1-5, 2024
Download/Link ↗Generalized Difference Coder for Residual Coding in Video Compression
Timofey Mikhailovich Solovyev, Fabian Brand, Jürgen Seiler, Andre Kaup, Elena Alexandrovna Alshina
US Patent App. 18/662,752, 2024
Download/Link ↗Switchable Dense Motion Vector Field Interpolation
Timofey Mikhailovich Solovyev, Fabian Brand, Jürgen Seiler, Andre Kaup, Elena Alexandrovna Alshina
US Patent App. 18/446,265, 2024
Download/Link ↗Multiscale Augmented Normalizing Flows for Image Compression
Marc Windsheimer, Fabian Brand, André Kaup
ICASSP 2024-2024 IEEE International Conference on Acoustics, Speech and …, 2024
Download/Link ↗On Annotation-free Optimization of Video Coding for Machines
Marc Windsheimer, Fabian Brand, André Kaup
arXiv preprint arXiv:2406.07938, 2024
Download/Link ↗Conditional Residual Coding: A Remedy for Bottleneck Problems in Conditional Inter Frame Coding
Fabian Brand, Jürgen Seiler, André Kaup
IEEE Transactions on Circuits and Systems for Video Technology, 2024
Download/Link ↗Forensic analysis of AI-compression traces in spatial and frequency domain
Sandra Bergmann, Denise Moussa, Fabian Brand, André Kaup, Christian Riess
Pattern Recognition Letters 180, 41-47, 2024
Download/Link ↗The Bjøntegaard Bible Why your Way of Comparing Video Codecs May Be Wrong
Christian Herglotz, Hannah Och, Anna Meyer, Geetha Ramasubbu, Lena Eichermüller, et al.
IEEE Transactions on Image Processing, 2024
Download/Link ↗Is happiness always a personal (ity) thing? A quasi-replication and extension of previous well-being studies
Marco Deppe, Charlotte KL Pahnke, Carlo Maj, Rana Aldisi, Markus M Nöthen, et al.
A Quasi-Replication and Extension of Previous Well-Being Studies, 2024
Download/Link ↗Systematic assessment of COVID-19 host genetics using whole genome sequencing data
Axel Schmidt, Nicolas Casadei, Fabian Brand, German Demidov, Elaheh Vojgani, et al.
PLoS pathogens 20 (12), e1012786, 2024
Download/Link ↗Pathway-specific analysis of the burden of rare variants in complex phenotypes
Rana Aldisi, Holger Froehlich, Andreas Mayr, Peter Krawitz, Carlo Maj
EUROPEAN JOURNAL OF HUMAN GENETICS 32, 769-770, 2024
Download/Link ↗Exploring the Impact of Selective Constraints on the Evolution of Genes Linked to Polygenic Traits
Pouria Dasmeh, Peter Krawitz, Johannes Schumacher, Carlo Maj
EUROPEAN JOURNAL OF HUMAN GENETICS 32, 319-319, 2024
Download/Link ↗Extending DeepTrio for sensitive detection of complex de novo mutation patterns
Fabian Brand, Jannis Guski, Peter Krawitz
NAR Genomics and Bioinformatics 6 (1), lqae013, 2024
Download/Link ↗Trustworthy and Self-explanatory Artificial Intelligence for the Classification of Non-Hodgkin Lymphoma by Immunophenotype
Michael Thrun, Jörg Hoffmann, Stefan Krause, Nicole Weit, Peter Krawitz, et al.
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Download/Link ↗Transferability of polygenic risk scores depending on demography and dominance coefficients
Leonie Fohler, Andreas Mayr, Carlo Maj, Christian Staerk, Hannah Klinkhammer, et al.
medRxiv, 2024.08. 07.24311645, 2024
Download/Link ↗Michael’s missed genetic diagnosis
Johannes R Lemke, Christian Brandt, Peter Krawitz
Clinical Epileptology 37 (4), 306-310, 2024
Download/Link ↗Prevalence and determinants of subretinal drusenoid deposits in patients’ first-degree relatives
Matthias M Mauschitz, Benedikt J Hochbein, Hannah Klinkhammer, Marlene Saßmannshausen, Jan H Terheyden, et al.
Graefe's Archive for Clinical and Experimental Ophthalmology 262 (1), 53-60, 2024
Download/Link ↗Approximating facial expression effects on diagnostic accuracy via generative AI in medical genetics
Tanviben Patel, Amna A Othman, Ömer Sümer, Fabio Hellman, Peter Krawitz, et al.
Bioinformatics 40 (Supplement_1), i110-i118, 2024
Download/Link ↗Impact of Synbiotic Intake on Liver Metabolism in Metabolically Healthy Participants and Its Potential Preventive Effect on Metabolic-Dysfunction-Associated Fatty Liver Disease …
Aakash Mantri, Anika Köhlmoos, Daniela Stephanie Schelski, Waldemar Seel, Birgit Stoffel-Wagner, et al.
Nutrients 16 (9), 1300, 2024
Download/Link ↗Beneficial effects of Synbiotics on the gut microbiome in individuals with low Fiber intake: secondary analysis of a double-blind, randomized controlled trial
Aakash Mantri, Linda Klümpen, Waldemar Seel, Peter Krawitz, Peter Stehle, et al.
Nutrients 16 (13), 2082, 2024
Download/Link ↗Myeloid-Specific CDK5 Knockdown Reduces Atherosclerotic Plaque Calcification
OJ Waring, V Saar-Kovrov, H Jin, C Lu, A Ruder, et al.
Tackling the Complexity of CKD-associated Cardiovascular Disease, 155, 2024
Download/Link ↗Rare genetic developmental disabilities: Mabry syndrome (MIM 239300) index cases and glycophosphatidylinositol (GPI) disorders
Miles D Thompson, Alexej Knaus
Genes 15 (5), 619, 2024
Download/Link ↗REEV: review, evaluate and explain variants
Dzmitry Hramyka, Henrike Lisa Sczakiel, Max Xiaohang Zhao, Oliver Stolpe, Mikko Nieminen, et al.
Nucleic acids research 52 (W1), W148-W158, 2024
Download/Link ↗Eye2Gene: a novel AI algorithm enables phenotype-driven gene prioritisation directly from retinal scans in inherited retinal diseases
Nikolas Pontikos, William Woof, Miriam Bauwens, Saoud Al-Khuzaei, Behnam Javanmardi, et al.
EUROPEAN JOURNAL OF HUMAN GENETICS 32, 5-6, 2024
Download/Link ↗Acromesomelic Dysplasia With Homozygosity for a Likely Pathogenic BMPR1B Variant: Postaxial Polydactyly as a Novel Clinical Finding
Ibrahim M Abdelrazek, Alexej Knaus, Behnam Javanmardi, Peter M Krawitz, Denise Horn, et al.
Molecular Genetics & Genomic Medicine 12 (10), e70023, 2024
Download/Link ↗Face2HPO: Simultaneous HPO Labeling and Disorder Classification of Syndromic Faces
Alexander Hustinx, Tzung-Chien Hsieh, Behnam Javanmardi, Peter Krawitz
EUROPEAN JOURNAL OF HUMAN GENETICS 32, 673-674, 2024
Download/Link ↗Pediatric bone age assessment of patients with genetically-caused skeletal malformations by prior-free deep learning
Sebastian Rassmann, Alexandra Keller, Kyra Skaf, Alexander Hustinx, Tzung-Chien Hsieh, et al.
EUROPEAN JOURNAL OF HUMAN GENETICS 32, 670-671, 2024
Download/Link ↗Development of diagnostic solutions for neurodevelopmental disorders caused by ubiquitinproteasome system dysfunction
Sebastien Kury, Jeremie Poschmann, Peter Krawitz, Francois Bolduc, Arnaud Droit, et al.
EUROPEAN JOURNAL OF HUMAN GENETICS 32, 457-458, 2024
Download/Link ↗GestaltMatcher supports lumping and splitting decision-making by facial phenotype descriptors
Hannah Klinkhammer, Hellen Lesmann, Shahida Moosa, Alexander Hustinx, Behnam Javanmardi, et al.
EUROPEAN JOURNAL OF HUMAN GENETICS 32, 51-52, 2024
Download/Link ↗Genomic and biological panoramas of non-muscle actinopathies
Nataliya Di Donato, NMA Consortium, Andrew Thom, Andreas Rump, Johannes N Greve, et al.
medRxiv, 2024.08. 21.24310320, 2024
Download/Link ↗GestaltGAN: Synthetic photorealistic portraits of individuals with rare genetic disorders
Peter Krawitz, Alexander Hustinx, Behnam Javanmardi, Tzung-Chien Hsieh, Fabian Brand, et al.
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Download/Link ↗F55. LOSS-OF-FUNCTION VARIANTS IN CUL3 CAUSE A SYNDROMIC NEURODEVELOPMENTAL DISORDER
Tianyun Wang, Patrick Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, Marialetizia Motta, et al.
European Neuropsychopharmacology 87, 235, 2024
Download/Link ↗Upregulation vs. loss of function of NTRK2 in 44 affected individuals leads to two distinct neurodevelopmental disorders
Eva Berger, Robin-Tobias Jauss, Judith D Ranells, Emir Zonic, Lydia von Wintzingerode, et al.
Genetics in Medicine, 101326, 2024
Download/Link ↗Epigenomic and phenotypic characterization of DEGCAGS syndrome
Karim Karimi, Denisa Weis, Ingvild Aukrust, Tzung-Chien Hsieh, Marie Horackova, et al.
European Journal of Human Genetics, 1-9, 2024
Download/Link ↗Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya disease
Chia-Yi Li, Li-Wen Chen, Meng-Che Tsai, Yen-Yin Chou, Pei-Xuan Lin, et al.
EBioMedicine 110, 2024
Download/Link ↗Comparison of clinical geneticist and computer visual attention in assessing genetic conditions
Dat Duong, Anna Rose Johny, Suzanna Ledgister Hanchard, Christopher Fortney, Kendall Flaharty, et al.
PLoS Genetics 20 (2), e1011168, 2024
Download/Link ↗GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical Texts
Da Wu, Jingye Yang, Cong Liu, Tzung-Chien Hsieh, Elaine Marchi, et al.
ArXiv, arXiv: 2312.15320 v2, 2024
Download/Link ↗ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations
Lucia Laugwitz, Fubo Cheng, Stephan C Collins, Alexander Hustinx, Nicolas Navarro, et al.
Brain 147 (7), 2471-2482, 2024
Download/Link ↗Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
Sébastien Küry, Janelle E Stanton, Geeske van Woerden, Tzung-Chien Hsieh, Cory Rosenfelt, et al.
medRxiv, 2024.01. 13.24301174, 2024
Download/Link ↗Role of CAMK2D in neurodevelopment and associated conditions
Pomme MF Rigter, Charlotte de Konink, Matthew J Dunn, Martina Proietti Onori, Jennifer B Humberson, et al.
The American Journal of Human Genetics 111 (2), 364-382, 2024
Download/Link ↗BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations
Angela Peron, Felice D’Arco, Kimberly A Aldinger, Constance Smith-Hicks, Christiane Zweier, et al.
European Journal of Human Genetics, 1-13, 2024
Download/Link ↗Deeplasia: deep learning for bone age assessment validated on skeletal dysplasias
Sebastian Rassmann, Alexandra Keller, Kyra Skaf, Alexander Hustinx, Ruth Gausche, et al.
Pediatric Radiology 54 (1), 82-95, 2024
Download/Link ↗Ganonymization: A gan-based face anonymization framework for preserving emotional expressions
Fabio Hellmann, Silvan Mertes, Mohamed Benouis, Alexander Hustinx, Tzung-Chien Hsieh, et al.
ACM Transactions on Multimedia Computing, Communications and Applications 21 …, 2024
Download/Link ↗Delineation of the adult phenotype of coffin–Siris syndrome in 35 individuals
Ariane Schmetz, Hermann-Josef Lüdecke, Harald Surowy, Sugirtahn Sivalingam, Ange-Line Bruel, et al.
Human genetics 143 (1), 71-84, 2024
Download/Link ↗Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
Dong Li, Qin Wang, Allan Bayat, Mark R Battig, Yijing Zhou, et al.
The Journal of clinical investigation 134 (1), 2024
Download/Link ↗Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, et al.
Nature genetics 56 (8), 1644-1653, 2024
Download/Link ↗Enhancing applicability of PEDIA by integration of CADA and GestaltMatcher into the variant analysis framework VarFish
Meghna Ahuja Bhasin, Tzung-Chien Hsieh, Alexej Knaus, Peter Krawitz, Pietro Incardona, et al.
EUROPEAN JOURNAL OF HUMAN GENETICS 32, 296-297, 2024
Download/Link ↗Enhancing Variant Prioritization in VarFish through On-Premise Computational Facial Analysis
Meghna Ahuja Bhasin, Alexej Knaus, Pietro Incardona, Alexander Schmid, Manuel Holtgrewe, et al.
Genes 15 (3), 370, 2024
Download/Link ↗Next‐generation phenotyping in Nigerian children with Cornelia de Lange Syndrome
Annabelle Arlt, Alexej Knaus, Tzung‐Chien Hsieh, Hannah Klinkhammer, Meghna Ahuja Bhasin, et al.
American Journal of Medical Genetics Part A, e63641, 2024
Download/Link ↗Biallelic SORD mutations: frequency and associated phenotypes in a cohort of previously genetically unconfirmed Charcot-Marie-Tooth disease
Annabelle Arlt, Esra Akova-Oeztuerk, Anja Schirmacher, Bernhard Schlueter, Stephan Rust, et al.
EUROPEAN JOURNAL OF HUMAN GENETICS 32, 519-519, 2024
Download/Link ↗SORDD: mutation frequency and phenotype in predominantly axonal Charcot-Marie-Tooth disease of undefined genetic cause
Annabelle Arlt, Esra Akova-Öztürk, Anja Schirmacher, Bernhard Schlüter, Stephan Rust, et al.
Journal of Neurogenetics 38 (2), 35-40, 2024
Download/Link ↗Premature cognitive decline in a mouse model of tuberous sclerosis
J Krummeich, L Nardi, C Caliendo, D Aschauer, V Engelhardt, et al.
Aging Cell 23 (12), e14318, 2024
Download/Link ↗Next‐generation phenotyping in Nigerian children with Cornelia de Lange syndrome
Annabelle Arlt, Alexej Knaus, Tzung‐Chien Hsieh, Hannah Klinkhammer, Meghna Ahuja Bhasin, et al.
American Journal of Medical Genetics Part A 194 (9), e63641, 2024
Download/Link ↗GestaltMatcher Database-A global reference for facial phenotypic variability in rare human diseases
Hellen Lesmann, Alexander Hustinx, Shahida Moosa, Hannah Klinkhammer, Elaine Marchi, et al.
Research square, rs. 3. rs-4438861, 2024
Download/Link ↗