Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 61

1.

Genetic Screening Test to Detect Translocations in Acute Leukemias by Use of Targeted Locus Amplification.

Alimohamed MZ, Johansson LF, de Boer EN, Splinter E, Klous P, Yilmaz M, Bosga A, van Min M, Mulder AB, Vellenga E, Sinke RJ, Sijmons RH, van den Berg E, Sikkema-Raddatz B.

Clin Chem. 2018 Jul;64(7):1096-1103. doi: 10.1373/clinchem.2017.286047. Epub 2018 May 24.

PMID:
29794109
2.

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.

Pediatrics. 2017 Oct;140(4). pii: e20162854. doi: 10.1542/peds.2016-2854.

3.

Novel Algorithms for Improved Sensitivity in Non-Invasive Prenatal Testing.

Johansson LF, de Boer EN, de Weerd HA, van Dijk F, Elferink MG, Schuring-Blom GH, Suijkerbuijk RF, Sinke RJ, Te Meerman GJ, Sijmons RH, Swertz MA, Sikkema-Raddatz B.

Sci Rep. 2017 May 12;7(1):1838. doi: 10.1038/s41598-017-02031-5.

4.

Estimates of live birth prevalence of children with Down syndrome in the period 1991-2015 in the Netherlands.

de Graaf G, Engelen JJM, Gijsbers ACJ, Hochstenbach R, Hoffer MJV, Kooper AJA, Sikkema-Raddatz B, Srebniak MI, van der Kevie-Kersemaekers AMF, van Zutven LJCM, Voorhoeve E.

J Intellect Disabil Res. 2017 May;61(5):461-470. doi: 10.1111/jir.12371. Epub 2017 Mar 5.

PMID:
28261902
5.

GAVIN: Gene-Aware Variant INterpretation for medical sequencing.

van der Velde KJ, de Boer EN, van Diemen CC, Sikkema-Raddatz B, Abbott KM, Knopperts A, Franke L, Sijmons RH, de Koning TJ, Wijmenga C, Sinke RJ, Swertz MA.

Genome Biol. 2017 Jan 16;18(1):6. doi: 10.1186/s13059-016-1141-7.

6.

NIPTRIC: an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results.

Sikkema-Raddatz B, Johansson LF, de Boer EN, Boon EM, Suijkerbuijk RF, Bouman K, Bilardo CM, Swertz MA, Dijkstra M, van Langen IM, Sinke RJ, Te Meerman GJ.

Sci Rep. 2016 Dec 5;6:38359. doi: 10.1038/srep38359.

7.

Re-emergence of acute myeloid leukemia in donor cells following allogeneic transplantation in a family with a germline DDX41 mutation.

Berger G, van den Berg E, Sikkema-Raddatz B, Abbott KM, Sinke RJ, Bungener LB, Mulder AB, Vellenga E.

Leukemia. 2017 Feb;31(2):520-522. doi: 10.1038/leu.2016.310. Epub 2016 Oct 31. No abstract available.

PMID:
27795557
8.

CoNVaDING: Single Exon Variation Detection in Targeted NGS Data.

Johansson LF, van Dijk F, de Boer EN, van Dijk-Bos KK, Jongbloed JD, van der Hout AH, Westers H, Sinke RJ, Swertz MA, Sijmons RH, Sikkema-Raddatz B.

Hum Mutat. 2016 May;37(5):457-64. doi: 10.1002/humu.22969. Epub 2016 Feb 24.

PMID:
26864275
9.

Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly.

Rump P, Jazayeri O, van Dijk-Bos KK, Johansson LF, van Essen AJ, Verheij JB, Veenstra-Knol HE, Redeker EJ, Mannens MM, Swertz MA, Alizadeh BZ, van Ravenswaaij-Arts CM, Sinke RJ, Sikkema-Raddatz B.

BMC Med Genomics. 2016 Feb 4;9:7. doi: 10.1186/s12920-016-0167-8.

10.

Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy.

Vlaskamp DR, Rump P, Callenbach PM, Vos YJ, Sikkema-Raddatz B, van Ravenswaaij-Arts CM, Brouwer OF.

Eur J Paediatr Neurol. 2016 May;20(3):489-92. doi: 10.1016/j.ejpn.2015.12.014. Epub 2016 Jan 8.

PMID:
26818399
11.

A novel homozygous insertion and review of published mutations in the NNT gene causing familial glucocorticoid deficiency (FGD).

Jazayeri O, Liu X, van Diemen CC, Bakker-van Waarde WM, Sikkema-Raddatz B, Sinke RJ, Zhang J, van Ravenswaaij-Arts CM.

Eur J Med Genet. 2015 Dec;58(12):642-9. doi: 10.1016/j.ejmg.2015.11.001. Epub 2015 Nov 6. Review.

PMID:
26548497
12.

3p14 deletion is a rare contiguous gene syndrome: report of 2 new patients and an overview of 14 patients.

Dimitrov BI, Ogilvie C, Wieczorek D, Wakeling E, Sikkema-Raddatz B, van Ravenswaaij-Arts CM, Josifova D.

Am J Med Genet A. 2015 Jun;167(6):1223-30. doi: 10.1002/ajmg.a.36556. Epub 2015 Apr 22. Review.

PMID:
25908055
13.

Targeted next-generation sequencing panels for monogenetic disorders in clinical diagnostics: the opportunities and challenges.

de Koning TJ, Jongbloed JD, Sikkema-Raddatz B, Sinke RJ.

Expert Rev Mol Diagn. 2015 Jan;15(1):61-70. doi: 10.1586/14737159.2015.976555. Epub 2014 Nov 4.

PMID:
25367078
14.

Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping.

de Vree PJ, de Wit E, Yilmaz M, van de Heijning M, Klous P, Verstegen MJ, Wan Y, Teunissen H, Krijger PH, Geeven G, Eijk PP, Sie D, Ylstra B, Hulsman LO, van Dooren MF, van Zutven LJ, van den Ouweland A, Verbeek S, van Dijk KW, Cornelissen M, Das AT, Berkhout B, Sikkema-Raddatz B, van den Berg E, van der Vlies P, Weening D, den Dunnen JT, Matusiak M, Lamkanfi M, Ligtenberg MJ, ter Brugge P, Jonkers J, Foekens JA, Martens JW, van der Luijt R, van Amstel HK, van Min M, Splinter E, de Laat W.

Nat Biotechnol. 2014 Oct;32(10):1019-25. doi: 10.1038/nbt.2959. Epub 2014 Aug 17.

PMID:
25129690
15.

Central 22q11.2 deletions.

Rump P, de Leeuw N, van Essen AJ, Verschuuren-Bemelmans CC, Veenstra-Knol HE, Swinkels ME, Oostdijk W, Ruivenkamp C, Reardon W, de Munnik S, Ruiter M, Frumkin A, Lev D, Evers C, Sikkema-Raddatz B, Dijkhuizen T, van Ravenswaaij-Arts CM.

Am J Med Genet A. 2014 Nov;164A(11):2707-23. doi: 10.1002/ajmg.a.36711. Epub 2014 Aug 14.

PMID:
25123976
16.

Temporal and developmental-stage variation in the occurrence of mitotic errors in tripronuclear human preimplantation embryos.

Mantikou E, van Echten-Arends J, Sikkema-Raddatz B, van der Veen F, Repping S, Mastenbroek S.

Biol Reprod. 2013 Aug 22;89(2):42. doi: 10.1095/biolreprod.113.107946. Print 2013 Aug.

PMID:
23863408
17.

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.

J Med Genet. 2013 Aug;50(8):500-6. doi: 10.1136/jmedgenet-2012-101152. Epub 2013 Apr 16.

18.

Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics.

Sikkema-Raddatz B, Johansson LF, de Boer EN, Almomani R, Boven LG, van den Berg MP, van Spaendonck-Zwarts KY, van Tintelen JP, Sijmons RH, Jongbloed JD, Sinke RJ.

Hum Mutat. 2013 Jul;34(7):1035-42. doi: 10.1002/humu.22332. Epub 2013 Apr 29.

PMID:
23568810
19.

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.

Gordon CT, Vuillot A, Marlin S, Gerkes E, Henderson A, AlKindy A, Holder-Espinasse M, Park SS, Omarjee A, Sanchis-Borja M, Bdira EB, Oufadem M, Sikkema-Raddatz B, Stewart A, Palmer R, McGowan R, Petit F, Delobel B, Speicher MR, Aurora P, Kilner D, Pellerin P, Simon M, Bonnefont JP, Tobias ES, García-Miñaúr S, Bitner-Glindzicz M, Lindholm P, Meijer BA, Abadie V, Denoyelle F, Vazquez MP, Rotky-Fast C, Couloigner V, Pierrot S, Manach Y, Breton S, Hendriks YM, Munnich A, Jakobsen L, Kroisel P, Lin A, Kaban LB, Basel-Vanagaite L, Wilson L, Cunningham ML, Lyonnet S, Amiel J.

J Med Genet. 2013 Mar;50(3):174-86. doi: 10.1136/jmedgenet-2012-101331. Epub 2013 Jan 12.

PMID:
23315542
20.

Successful noninvasive trisomy 18 detection using single molecule sequencing.

van den Oever JM, Balkassmi S, Johansson LF, Adama van Scheltema PN, Suijkerbuijk RF, Hoffer MJ, Sinke RJ, Bakker E, Sikkema-Raddatz B, Boon EM.

Clin Chem. 2013 Apr;59(4):705-9. doi: 10.1373/clinchem.2012.196212. Epub 2013 Jan 11.

21.

The use of arrays to detect copy-number variations in clinical practice.

Sikkema-Raddatz B, Sijmons RH.

Hum Mutat. 2012 Jun;33(6):905. doi: 10.1002/humu.22084. No abstract available.

PMID:
22570302
22.

The introduction of arrays in prenatal diagnosis: a special challenge.

Vetro A, Bouman K, Hastings R, McMullan DJ, Vermeesch JR, Miller K, Sikkema-Raddatz B, Ledbetter DH, Zuffardi O, van Ravenswaaij-Arts CM.

Hum Mutat. 2012 Jun;33(6):923-9. doi: 10.1002/humu.22050. Epub 2012 Apr 16.

PMID:
22508381
23.

Genome-wide arrays in routine diagnostics of hematological malignancies.

Simons A, Sikkema-Raddatz B, de Leeuw N, Konrad NC, Hastings RJ, Schoumans J.

Hum Mutat. 2012 Jun;33(6):941-8. doi: 10.1002/humu.22057. Epub 2012 Apr 9. Review.

PMID:
22488943
24.

Arrays in postnatal and prenatal diagnosis: An exploration of the ethics of consent.

Dondorp W, Sikkema-Raddatz B, de Die-Smulders C, de Wert G.

Hum Mutat. 2012 Jun;33(6):916-22. doi: 10.1002/humu.22068. Epub 2012 Apr 4.

PMID:
22396320
25.

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.

Eur J Hum Genet. 2012 Feb;20(2):161-5. doi: 10.1038/ejhg.2011.174. Epub 2011 Sep 21.

26.

Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies.

Nowakowska BA, de Leeuw N, Ruivenkamp CA, Sikkema-Raddatz B, Crolla JA, Thoelen R, Koopmans M, den Hollander N, van Haeringen A, van der Kevie-Kersemaekers AM, Pfundt R, Mieloo H, van Essen T, de Vries BB, Green A, Reardon W, Fryns JP, Vermeesch JR.

Eur J Hum Genet. 2012 Feb;20(2):166-70. doi: 10.1038/ejhg.2011.157. Epub 2011 Sep 14.

27.

Madelung deformity in a girl with a novel and de novo mutation in the GNAS gene.

Rump P, Jongbloed JD, Sikkema-Raddatz B, Mundlos S, Klopocki E, van der Luijt RB.

Am J Med Genet A. 2011 Oct;155A(10):2566-70. doi: 10.1002/ajmg.a.34218. Epub 2011 Sep 9.

PMID:
21910239
28.

Clinical features and respiratory complications in Myhre syndrome.

McGowan R, Gulati R, McHenry P, Cooke A, Butler S, Keng WT, Murday V, Whiteford M, Dikkers FG, Sikkema-Raddatz B, van Essen T, Tolmie J.

Eur J Med Genet. 2011 Nov-Dec;54(6):e553-9. doi: 10.1016/j.ejmg.2011.07.001. Epub 2011 Jul 21.

PMID:
21816239
29.

Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.

Feenstra I, Hanemaaijer N, Sikkema-Raddatz B, Yntema H, Dijkhuizen T, Lugtenberg D, Verheij J, Green A, Hordijk R, Reardon W, Vries Bd, Brunner H, Bongers E, Leeuw Nd, van Ravenswaaij-Arts C.

Eur J Hum Genet. 2011 Nov;19(11):1152-60. doi: 10.1038/ejhg.2011.120. Epub 2011 Jun 29.

30.

Chromosomal mosaicism in human preimplantation embryos: a systematic review.

van Echten-Arends J, Mastenbroek S, Sikkema-Raddatz B, Korevaar JC, Heineman MJ, van der Veen F, Repping S.

Hum Reprod Update. 2011 Sep-Oct;17(5):620-7. doi: 10.1093/humupd/dmr014. Epub 2011 Apr 29. Review.

PMID:
21531753
31.

Bilateral polymicrogyria as the indicative feature in a child with a 22q11.2 deletion.

Gerkes EH, Hordijk R, Dijkhuizen T, Sival DA, Meiners LC, Sikkema-Raddatz B, van Ravenswaaij-Arts CM.

Eur J Med Genet. 2010 Sep-Oct;53(5):344-6. doi: 10.1016/j.ejmg.2010.05.003. Epub 2010 May 27.

PMID:
20553986
32.

A live-born child with a mosaic chromosomal pattern of either monosomy 21 or trisomy 4 in different embryonal germ layers.

van der Kevie-Kersemaekers AM, Suijkerbuijk RF, Moll FC, Dijkhuizen T, van Spaendonck-Zwarts KY, Drok G, Bouman K, Sikkema-Raddatz B.

Prenat Diagn. 2010 Jan;30(1):86-8. doi: 10.1002/pd.2415. No abstract available.

PMID:
19960447
33.

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.

Willemsen MH, Fernandez BA, Bacino CA, Gerkes E, de Brouwer AP, Pfundt R, Sikkema-Raddatz B, Scherer SW, Marshall CR, Potocki L, van Bokhoven H, Kleefstra T.

Eur J Hum Genet. 2010 Apr;18(4):429-35. doi: 10.1038/ejhg.2009.192. Epub 2009 Nov 18.

34.

A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature.

Hanemaaijer N, Dijkhuizen T, Haadsma M, Boeve M, Boon M, Hordijk R, Kok K, Sikkema-Raddatz B, van Ravenswaaij-Arts CM.

Eur J Med Genet. 2009 Mar-Jun;52(2-3):116-9. Review.

PMID:
19452620
35.

Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism.

van Silfhout AT, van den Akker PC, Dijkhuizen T, Verheij JB, Olderode-Berends MJ, Kok K, Sikkema-Raddatz B, van Ravenswaaij-Arts CM.

Eur J Hum Genet. 2009 Nov;17(11):1432-8. doi: 10.1038/ejhg.2009.72. Epub 2009 Apr 29.

36.

Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands.

Hochstenbach R, van Binsbergen E, Engelen J, Nieuwint A, Polstra A, Poddighe P, Ruivenkamp C, Sikkema-Raddatz B, Smeets D, Poot M.

Eur J Med Genet. 2009 Jul-Aug;52(4):161-9. doi: 10.1016/j.ejmg.2009.03.015. Epub 2009 Apr 9.

PMID:
19362174
37.

Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances.

Doornbos M, Sikkema-Raddatz B, Ruijvenkamp CA, Dijkhuizen T, Bijlsma EK, Gijsbers AC, Hilhorst-Hofstee Y, Hordijk R, Verbruggen KT, Kerstjens-Frederikse WS, van Essen T, Kok K, van Silfhout AT, Breuning M, van Ravenswaaij-Arts CM.

Eur J Med Genet. 2009 Mar-Jun;52(2-3):108-15. doi: 10.1016/j.ejmg.2009.03.010. Epub 2009 Mar 27.

PMID:
19328872
38.

The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: report on two patients and review of the literature.

Raas-Rothschild A, Dijkhuizen T, Sikkema-Raddatz B, Werner M, Dagan J, Abeliovich D, Lerer I.

Eur J Med Genet. 2009 Mar-Jun;52(2-3):140-4. doi: 10.1016/j.ejmg.2009.03.011. Epub 2009 Mar 26. Review.

PMID:
19328248
39.

Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals.

Bijlsma EK, Gijsbers AC, Schuurs-Hoeijmakers JH, van Haeringen A, Fransen van de Putte DE, Anderlid BM, Lundin J, Lapunzina P, Pérez Jurado LA, Delle Chiaie B, Loeys B, Menten B, Oostra A, Verhelst H, Amor DJ, Bruno DL, van Essen AJ, Hordijk R, Sikkema-Raddatz B, Verbruggen KT, Jongmans MC, Pfundt R, Reeser HM, Breuning MH, Ruivenkamp CA.

Eur J Med Genet. 2009 Mar-Jun;52(2-3):77-87. doi: 10.1016/j.ejmg.2009.03.006. Epub 2009 Mar 21.

PMID:
19306953
40.

A unique 970kb microdeletion in 9q33.3, including the NR5A1 gene in a 46,XY female.

van Silfhout A, Boot AM, Dijkhuizen T, Hoek A, Nijman R, Sikkema-Raddatz B, van Ravenswaaij-Arts CM.

Eur J Med Genet. 2009 Mar-Jun;52(2-3):157-60. doi: 10.1016/j.ejmg.2009.02.009. Epub 2009 Mar 6.

PMID:
19269353
41.

A non-mosaic tetraploidy in the long-term culture of chorionic villi with a trisomy 13 in concomitant amniocytes.

Sikkema-Raddatz B, Bouman K, Drok G, ter Brugge HG, Suijkerbuijk R.

Prenat Diagn. 2009 May;29(5):541-2. doi: 10.1002/pd.2226. No abstract available.

PMID:
19222025
42.

Drayer's syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2-->qter).

Rump P, Dijkhuizen T, Sikkema-Raddatz B, Lemmink HH, Vos YJ, Verheij JB, van Ravenswaaij CM.

Clin Genet. 2008 Nov;74(5):455-62. doi: 10.1111/j.1399-0004.2008.01064.x. Epub 2008 Jul 21.

PMID:
18651844
43.

In vitro fertilization with preimplantation genetic screening.

Mastenbroek S, Twisk M, van Echten-Arends J, Sikkema-Raddatz B, Korevaar JC, Verhoeve HR, Vogel NE, Arts EG, de Vries JW, Bossuyt PM, Buys CH, Heineman MJ, Repping S, van der Veen F.

N Engl J Med. 2007 Jul 5;357(1):9-17. Epub 2007 Jul 4.

44.

Mosaic isodicentric chromosome 18q: sixth report and review.

Oudesluijs GG, Hulzebos CV, Sikkema-Raddatz B, Van Essen AJ.

Genet Couns. 2006;17(4):395-400.

PMID:
17375524
45.

FISH and array-CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions.

Dijkhuizen T, van Essen T, van der Vlies P, Verheij JB, Sikkema-Raddatz B, van der Veen AY, Gerssen-Schoorl KB, Buys CH, Kok K.

Am J Med Genet A. 2006 Nov 15;140(22):2482-7.

PMID:
17036314
46.

An absolute procedure to test the growth potential of medium and the influence of decreased oxygen tension in primary amniotic fluid cell cultures.

Sikkema-Raddatz B, Suijkerbuijk R, van der Vlag J, Stoepker M, Buys CH, te Meerman GJ.

Prenat Diagn. 2006 Sep;26(9):855-60.

PMID:
16821249
47.
48.

BCL6 alternative breakpoint region break and homozygous deletion of 17q24 in the nodular lymphocyte predominance type of Hodgkin's lymphoma-derived cell line DEV.

Atayar C, Kok K, Kluiver J, Bosga A, van den Berg E, van der Vlies P, Blokzijl T, Harms G, Davelaar I, Sikkema-Raddatz B, Martin-Subero JI, Siebert R, Poppema S, van den Berg A.

Hum Pathol. 2006 Jun;37(6):675-83.

PMID:
16733207
49.

Application of a comprehensive subtelomere array in clinical diagnosis of mental retardation.

Kok K, Dijkhuizen T, Swart YE, Zorgdrager H, van der Vlies P, Fehrmann R, te Meerman GJ, Gerssen-Schoorl KB, van Essen T, Sikkema-Raddatz B, Buys CH.

Eur J Med Genet. 2005 Jul-Sep;48(3):250-62.

PMID:
16179221
50.

[Preimplantation genetic screening for numerical chromosomal abnormalities in embryos from women of 35 years of age and older; first results in The Netherlands].

Mastenbroek S, Engel C, van Echten-Arends J, Sikkema-Raddatz B, van Wassenaer AG, de Vries JW, Heineman MJ, Repping S, van der Veen F.

Ned Tijdschr Geneeskd. 2004 Dec 11;148(50):2486-90. Dutch.

PMID:
15638196

Supplemental Content

Loading ...
Support Center