Research output per year
Research output per year
Network
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo-epi-metaphyseal dysplasia
van de Kamp, J. M., Bökenkamp, A., Smith, D. E. C., Wamelink, M. M. C., Jansen, E. E. W., Struys, E. A., Waisfisz, Q., Verkleij, M., Hartmann, M. F., Wang, R., Wudy, S. A., Paganini, C., Rossi, A. & Finken, M. J. J., Jan 2023, In: Clinical genetics. 103, 1, p. 45-52 8 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
SLC26A1 is a major determinant of sulfate homeostasis in humans
Pfau, A., López-Cayuqueo, K. I., Scherer, N., Wuttke, M., Wernstedt, A., González Fassrainer, D., Smith, D. E., van de Kamp, J. M., Ziegeler, K., Eckardt, K-U., Luft, F. C., Aronson, P. S., Köttgen, A., Jentsch, T. J. & Knauf, F., 1 Feb 2023, In: Journal of clinical investigation. 133, 3, e16184.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome
Deciphering Developmental Disorders Study, 7 Apr 2022, In: American journal of human genetics. 109, 4, p. 750-758 9 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access2 Citations (Scopus) -
Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome
Steele, J. L., Morrow, M. M., Sarnat, H. B., Alkhunaizi, E., Brandt, T., Chitayat, D. A., DeFilippo, C. P., Douglas, G. V., Dubbs, H. A., Elloumi, H. Z., Glassford, M. R., Hannibal, M. C., Héron, B. N., Kim, L. E., Marco, E. J., Mignot, C., Monaghan, K. G., Myers, K. A., Parikh, S., Quinonez, S. C., & 7 others, 1 Jan 2022, In: Pediatric Neurology. 126, p. 65-73 9 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access2 Citations (Scopus) -
Cochlear supporting cells require GAS2 for cytoskeletal architecture and hearing
Chen, T., Rohacek, A. M., Caporizzo, M., Nankali, A., Smits, J. J., Oostrik, J., Lanting, C. P., Kücük, E., Gilissen, C., van de Kamp, J. M., Pennings, R. J. E., Rakowiecki, S. M., Kaestner, K. H., Ohlemiller, K. K., Oghalai, J. S., Kremer, H., Prosser, B. L. & Epstein, D. J., 17 May 2021, In: Developmental cell. 56, 10, p. 1526-1540.e7Research output: Contribution to journal › Article › Academic › peer-review