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Page 1
Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics.
Hanemaaijer NM, Sikkema-Raddatz B, van der Vries G, Dijkhuizen T, Hordijk R, van Essen AJ, Veenstra-Knol HE, Kerstjens-Frederikse WS, Herkert JC, Gerkes EH, Leegte LK, Kok K, Sinke RJ, van Ravenswaaij-Arts CM. Hanemaaijer NM, et al. Eur J Hum Genet. 2012 Feb;20(2):161-5. doi: 10.1038/ejhg.2011.174. Epub 2011 Sep 21. Eur J Hum Genet. 2012. PMID: 21934709 Free PMC article.
TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension.
Kerstjens-Frederikse WS, Bongers EM, Roofthooft MT, Leter EM, Douwes JM, Van Dijk A, Vonk-Noordegraaf A, Dijk-Bos KK, Hoefsloot LH, Hoendermis ES, Gille JJ, Sikkema-Raddatz B, Hofstra RM, Berger RM. Kerstjens-Frederikse WS, et al. J Med Genet. 2013 Aug;50(8):500-6. doi: 10.1136/jmedgenet-2012-101152. Epub 2013 Apr 16. J Med Genet. 2013. PMID: 23592887 Free PMC article.
Rapid Targeted Genomics in Critically Ill Newborns.
van Diemen CC, Kerstjens-Frederikse WS, Bergman KA, de Koning TJ, Sikkema-Raddatz B, van der Velde JK, Abbott KM, Herkert JC, Löhner K, Rump P, Meems-Veldhuis MT, Neerincx PBT, Jongbloed JDH, van Ravenswaaij-Arts CM, Swertz MA, Sinke RJ, van Langen IM, Wijmenga C. van Diemen CC, et al. Pediatrics. 2017 Oct;140(4):e20162854. doi: 10.1542/peds.2016-2854. Pediatrics. 2017. PMID: 28939701 Clinical Trial.
Improving the diagnostic yield of exome- sequencing by predicting gene-phenotype associations using large-scale gene expression analysis.
Deelen P, van Dam S, Herkert JC, Karjalainen JM, Brugge H, Abbott KM, van Diemen CC, van der Zwaag PA, Gerkes EH, Zonneveld-Huijssoon E, Boer-Bergsma JJ, Folkertsma P, Gillett T, van der Velde KJ, Kanninga R, van den Akker PC, Jan SZ, Hoorntje ET, Te Rijdt WP, Vos YJ, Jongbloed JDH, van Ravenswaaij-Arts CMA, Sinke R, Sikkema-Raddatz B, Kerstjens-Frederikse WS, Swertz MA, Franke L. Deelen P, et al. Nat Commun. 2019 Jun 28;10(1):2837. doi: 10.1038/s41467-019-10649-4. Nat Commun. 2019. PMID: 31253775 Free PMC article.
A homozygous variant in growth and differentiation factor 2 (GDF2) may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis.
Aukema SM, Ten Brinke GA, Timens W, Vos YJ, Accord RE, Kraft KE, Santing MJ, Morssink LP, Streefland E, van Diemen CC, Vrijlandt EJ, Hulzebos CV, Kerstjens-Frederikse WS. Aukema SM, et al. Am J Med Genet A. 2020 Sep;182(9):2152-2160. doi: 10.1002/ajmg.a.61743. Epub 2020 Jul 2. Am J Med Genet A. 2020. PMID: 32618121
TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility.
Engwerda A, Leenders EKSM, Frentz B, Terhal PA, Löhner K, de Vries BBA, Dijkhuizen T, Vos YJ, Rinne T, van den Berg MP, Roofthooft MTR, Deelen P, van Ravenswaaij-Arts CMA, Kerstjens-Frederikse WS. Engwerda A, et al. Among authors: kerstjens frederikse ws. Eur J Hum Genet. 2021 Nov;29(11):1669-1676. doi: 10.1038/s41431-021-00948-0. Epub 2021 Aug 30. Eur J Hum Genet. 2021. PMID: 34456334 Free PMC article.
The role of TBX18 in congenital heart defects in humans not confirmed.
Engwerda A, Abbott KM, Hitzert MM, van Ravenswaaij-Arts CMA, Kerstjens-Frederikse WS. Engwerda A, et al. Among authors: kerstjens frederikse ws. Eur J Hum Genet. 2023 Feb;31(2):138-141. doi: 10.1038/s41431-022-01242-3. Epub 2022 Nov 22. Eur J Hum Genet. 2023. PMID: 36418409 Free PMC article. No abstract available.
65 results