Research output per year
Research output per year
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
-
Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability
Engwerda, A., Frentz, B., Rraku, E., de Souza, N. F. S., Swertz, M. A., Plantinga, M., Kerstjens-Frederikse, W. S., Ranchor, A. V. & van Ravenswaaij-Arts, C. M. A., 19-Mar-2023, In: Orphanet journal of rare diseases. 18, 1, 13 p., 60.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)7 Downloads (Pure) -
The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1
Engwerda, A., Kerstjens-Frederikse, W. S., Corsten-Janssen, N., Dijkhuizen, T. & van Ravenswaaij-Arts, C. M. A., 19-Mar-2023, In: Orphanet journal of rare diseases. 18, 1, 19 p., 59.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)14 Downloads (Pure) -
The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review
Rraku, E., Kerstjens-Frederikse, W. S., Swertz, M. A., Dijkhuizen, T., van Ravenswaaij-Arts, C. M. A. & Engwerda, A., 24-Mar-2023, In: Orphanet journal of rare diseases. 18, 1, 19 p., 68.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile6 Downloads (Pure) -
The role of TBX18 in congenital heart defects in humans not confirmed
Engwerda, A., Abbott, K. M., Hitzert, M. M., van Ravenswaaij-Arts, C. M. A. & Kerstjens-Frederikse, W. S., Feb-2023, In: European Journal of Human Genetics. 31, p. 138–141 4 p.Research output: Contribution to journal › Letter › Academic › peer-review
Open AccessFile9 Downloads (Pure) -
Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects
Genomics England Research Consortium, Pagnamenta, A. T., Jackson, A., Perveen, R., Beaman, G., Petts, G., Gupta, A., Hyder, Z., Chung, B. H. Y., Kan, A. S. Y., Cheung, K. W., Kerstjens-Frederikse, W. S., Abbott, K. M., Elpeleg, O., Taylor, J. C., Banka, S. & Ta-Shma, A., Jan-2022, In: Clinical Genetics. 101, 1, p. 127-133 7 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile5 Citations (Scopus)23 Downloads (Pure)