Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome

Sabria-Back, J., Monteagudo-Sánchez, A., Sánchez-Delgado, M., Ferguson-Smith, A. C., Gómez, O., Pertierra Cartada, A., Tenorio, J., Nevado, J., Lapunzina, P., Pereda Aguirre, A., Giménez Sevilla, C., Toro Toro, E., Perez de Nanclares, G. & Monk, D., Mar 2022, In: Journal of Medical Genetics. 59, 3, p. 253-261 9 p.

Research output: Contribution to journal › Article › peer-review

Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences

Eggermann, T., Yapici, E., Bliek, J., Pereda, A., Begemann, M., Russo, S., Tannorella, P., Calzari, L., de Nanclares, G. P., Lombardi, P., Temple, I. K., Mackay, D., Riccio, A., Kagami, M., Ogata, T., Lapunzina, P., Monk, D., Maher, E. R. & Tümer, Z., 16 Mar 2022, In: Clinical Epigenetics. 14, 41.

Research output: Contribution to journal › Article › peer-review

Prenatal diagnosis of Kagami-Ogata Syndrome

Coll, C. M., Bach, J. S., Renau, M. I., Alarcón Allen, A., Monk, D., Gómez del Rincón, O., Recasens, M. M. & Martínez Crespo, J. M., Jun 2021, In: Journal of Clinical Ultrasound. 49, 5, p. 498-501 4 p.

Research output: Contribution to journal › Article › peer-review

Comprehensive analysis of PM20D1 QTL in Alzheimer’s disease

Sanchez-Mut, J. V., Glauser, L., Monk, D. & Gräff, J., 3 Feb 2020, In: Clinical Epigenetics. 12, 1, 11 p., 20.

Research output: Contribution to journal › Article › peer-review

Recommendations for diagnosis and treatment of pseudohypoparathyroidism and related disorders: an updated practical tool for physicians and patients

Mantovani, G., Bastepe, M., Monk, D., de Sanctis, L., Thiele, S., Ahmed, S. F., Bufo, R., Choplin, T., De Filippo, G., Devernois, G., Eggermann, T., Ell, F. M., Garcia Ramirez, A., Germain-Lee, E. L., Groussin, L., Hamdy, N. A. T., Hanna, P., Hiort, O., Jüppner, H., Kamenický, P. & 23 others, Knight, N., Le Norcy, E., Lecumberri, B., Levine, M. A., Mäkitie, O., Martin, R., Martos-Moreno, G. Á., Minagawa, M., Murray, P., Pereda, A., Pignolo, R., Rejnmark, L., Rodado, R., Rothenbuhler, A., Saraff, V., Shoemaker, A. H., Shore, E. M., Silve, C., Turan, S., Woods, P., Zillikens, M. C., Perez de Nanclares, G. & Linglart, A., 1 Sep 2020, In: Hormone Research in Paediatrics. 93, 3, p. 182-196 15 p.

Research output: Contribution to journal › Article › peer-review