Michael’s missed genetic diagnosis

Lemke, J.R., Brandt, C. & Krawitz, P. Michael’s missed genetic diagnosis.  (2024)

Clin Epileptol (2024)

Impact of Synbiotic Intake on Liver Metabolism in Metabolically Healthy Participants and Its Potential Preventive Effect on Metabolic-Dysfunction-Associated Fatty Liver Disease (MAFLD): A Randomized, Placebo-Controlled, Double-Blinded Clinical Trial.

Mantri, A.; Köhlmoos, A.; Schelski, D.S.; Seel, W.; Stoffel-Wagner, B.; Krawitz, P.; Stehle, P.; Holst, J.J.; Weber, B.; Koban, L.; et al. 

Nutrients 2024, 16, 1300

GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical Texts.

Wu, D., Yang, J., Liu, C., Hsieh, T. C., Marchi, E., Blair, J., Krawitz, P., Weng, C., Chung, W., Lyon, G. J., Krantz, I. D., Kalish, J. M., & Wang, K. 

ArXiv, arXiv:2312.15320v2.  (2024)

Trustworthy and Self-explanatory Artificial Intelligence for the Classification of Non-Hodgkin Lymphoma by Immunophenotype  

M Thrun, J Hoffmann, S Krause, N Weit, P Krawitz, Q Stier, A NEUBAUER,....

Preprint Nature Portfolio

Extending DeepTrio for sensitive detection of complex de novo mutation patterns

Fabian Brand, Jannis Guski, Peter Krawitz

NAR Genomics and Bioinformatics, Volume 6, Issue 1, March 2024

Comparison of clinical geneticist and computer visual attention in assessing genetic conditions.

Duong D, Johny AR, Ledgister Hanchard S, Fortney C, Flaharty K, Hellmann F, et al. 

PLoS Genet 20(2): e1011168 (2024)

ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations   

L Laugwitz, F Cheng, SC Collins, A Hustinx, N Navarro, S Welsch, H Cox, et al.

 Brain, 2024;, awae058

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

D Li, Q Wang, A Bayat, MR Battig, Y Zhou, DGM Bosch, G van Haaften, et al.

The Journal of Clinical Investigation 134 (1), 2024

Role of CAMK2D in neurodevelopment and associated conditions.

Rigter, P. M., de Konink, C., Dunn, M. J., Onori, M. P., Humberson, J. B., Thomas, M., ... & van Woerden, G. M. (2024).

The American Journal of Human Genetics, 111(2), 364-382.

Next‐generation phenotyping in Nigerian children with Cornelia de Lange Syndrome.

Arlt, A., Knaus, A., Hsieh, T. C., Klinkhammer, H., Bhasin, M., Alexander, H., ... & Ekure, E.

medRxiv, 2024-02.

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Küry, S., Stanton, J. E., van Woerden, G., Hsieh, T. C., Rosenfelt, C., Scott-Boyer, M. P., ... & Krüger, E.

medRxiv, 2024-01

Multimodal Machine Learning Combining Facial Images and Clinical Texts Improves Diagnosis of Rare Genetic Diseases.

Wu, D., Yang, J., Klein, S., Liu, C., Hsieh, T. C., Krawitz, P., ... & Wang, K.

arXiv preprint arXiv:2312.15320

Deeplasia: deep learning for bone age assessment validated on skeletal dysplasias.

Rassmann, S., Keller, A., Skaf, K., Hustinx, A., Gausche, R., Ibarra-Arrelano, M. A., ... & Javanmardi, B. (2024). 

Pediatric Radiology, 54(1), 82-95

Understanding recessive disease risk in multi‐ethnic populations with different degrees of consanguinity. 

La Rocca, L. A., Frank, J., Bentzen, H. B., Pantel, J. T., Gerischer, K., Bovier, A., & Krawitz, P. M. 

American Journal of Medical Genetics Part A, 194(3), e63452.

Prevalence and determinants of subretinal drusenoid deposits in patients’ first-degree relatives. 

Mauschitz, M. M., Hochbein, B. J., Klinkhammer, H., Saßmannshausen, M., Terheyden, J. H., Krawitz, P., & Finger, R. P.

Graefe's Archive for Clinical and Experimental Ophthalmology, 262(1), 53-60.

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