Dzhoy Papingi
Publications
- 2024
A novel TTC26 variant in a patient with hexadactyly, pituitary stalk interruption, hepatopathy, nephropathy, and bilateral lip-palate cleft: A case report and expansion of the phenotype
Papingi, D., Bierhals, T., Volk, A. E., Kutsche, M., Paul, K. & Herget, T., 05.2024, In: AM J MED GENET A. 194, 5, p. e63515 e63515.Research output: SCORING: Contribution to journal › Case report › Research › peer-review
- 2023
Case Report of a DDX41 Germline Mutation in a Family with Multiple Relatives Suffering from Leukemia
Wagner, J. N., Al-Bazaz, M., Forstreuter, A., Hammada, M. I., Hille, J., Papingi, D., Bokemeyer, C. & Fiedler, W., 27.12.2023, In: BIOMEDICINES. 12, 1, 64.Research output: SCORING: Contribution to journal › Case report › Research › peer-review
Siblings with Gorlin-Goltz syndrome associated with cardiac tumors: a case report and review of literature
Wilke, P. I., Biermann, D., Grafmann, M., Kozlik-Feldmann, R., Papingi, D., Sachweh, J. S., Stute, F. & Olfe, J., 05.07.2023, In: ORPHANET J RARE DIS. 18, 1, p. 178Research output: SCORING: Contribution to journal › SCORING: Review article › Research
- 2022
First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders
Mackay, D., Bliek, J., Kagami, M., Tenorio-Castano, J., Pereda, A., Brioude, F., Netchine, I., Papingi, D., de Franco, E., Lever, M., Sillibourne, J., Lombardi, P., Gaston, V., Tauber, M., Diene, G., Bieth, E., Fernandez, L., Nevado, J., Tümer, Z., Riccio, A., Maher, E. R., Beygo, J., Tannorella, P., Russo, S., de Nanclares, G. P., Temple, I. K., Ogata, T., Lapunzina, P. & Eggermann, T., 07.11.2022, In: CLIN EPIGENETICS. 14, 1, 143.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review