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Page 1
The Genetic Epidemiology of Pediatric Pulmonary Arterial Hypertension.
Haarman MG, Kerstjens-Frederikse WS, Vissia-Kazemier TR, Breeman KTN, Timens W, Vos YJ, Roofthooft MTR, Hillege HL, Berger RMF. Haarman MG, et al. Among authors: vos yj. J Pediatr. 2020 Oct;225:65-73.e5. doi: 10.1016/j.jpeds.2020.05.051. Epub 2020 Jun 2. J Pediatr. 2020. PMID: 32502478
Severe myocardial fibrosis caused by a deletion of the 5' end of the lamin A/C gene.
van Tintelen JP, Tio RA, Kerstjens-Frederikse WS, van Berlo JH, Boven LG, Suurmeijer AJ, White SJ, den Dunnen JT, te Meerman GJ, Vos YJ, van der Hout AH, Osinga J, van den Berg MP, van Veldhuisen DJ, Buys CH, Hofstra RM, Pinto YM. van Tintelen JP, et al. Among authors: vos yj. J Am Coll Cardiol. 2007 Jun 26;49(25):2430-9. doi: 10.1016/j.jacc.2007.02.063. Epub 2007 Jun 11. J Am Coll Cardiol. 2007. PMID: 17599607 Free article.
Autosomal dominant inheritance of cardiac valves anomalies in two families: extended spectrum of left-ventricular outflow tract obstruction.
Wessels MW, van de Laar IM, Roos-Hesselink J, Strikwerda S, Majoor-Krakauer DF, de Vries BB, Kerstjens-Frederikse WS, Vos YJ, de Graaf BM, Bertoli-Avella AM, Willems PJ. Wessels MW, et al. Among authors: vos yj. Am J Med Genet A. 2009 Feb;149A(2):216-25. doi: 10.1002/ajmg.a.32594. Am J Med Genet A. 2009. PMID: 19161153
Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families.
Kerstjens-Frederikse WS, van de Laar IM, Vos YJ, Verhagen JM, Berger RM, Lichtenbelt KD, Klein Wassink-Ruiter JS, van der Zwaag PA, du Marchie Sarvaas GJ, Bergman KA, Bilardo CM, Roos-Hesselink JW, Janssen JH, Frohn-Mulder IM, van Spaendonck-Zwarts KY, van Melle JP, Hofstra RM, Wessels MW. Kerstjens-Frederikse WS, et al. Among authors: vos yj. Genet Med. 2016 Sep;18(9):914-23. doi: 10.1038/gim.2015.193. Epub 2016 Jan 28. Genet Med. 2016. PMID: 26820064 Free article.
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. Among authors: vos yj. 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. Among authors: vos yj. 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: vos yj. 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.
Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy.
Herkert JC, Abbott KM, Birnie E, Meems-Veldhuis MT, Boven LG, Benjamins M, du Marchie Sarvaas GJ, Barge-Schaapveld DQCM, van Tintelen JP, van der Zwaag PA, Vos YJ, Sinke RJ, van den Berg MP, van Langen IM, Jongbloed JDH. Herkert JC, et al. Among authors: vos yj. Genet Med. 2018 Nov;20(11):1374-1386. doi: 10.1038/gim.2018.9. Epub 2018 Mar 8. Genet Med. 2018. PMID: 29517769 Free article.
Screening for germline DND1 mutations in testicular cancer patients.
Sijmons RH, Vos YJ, Herkert JC, Bos KK, Lutke Holzik MF, Hoekstra-Weebers JE, Hofstra RM, Hoekstra HJ. Sijmons RH, et al. Among authors: vos yj. Fam Cancer. 2010 Sep;9(3):439-42. doi: 10.1007/s10689-010-9340-y. Fam Cancer. 2010. PMID: 20411342 Free PMC article.
59 results