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EuroGentest NoE, the ESHG, and genetic services.

Cassiman JJ.

Eur J Hum Genet. 2017 Dec;25(s2):S47-S49. doi: 10.1038/ejhg.2017.155. No abstract available.


The growth of the IFHGS after 2000.

Cassiman JJ.

Eur J Hum Genet. 2017 Dec;25(s2):S45-S46. doi: 10.1038/ejhg.2017.154. No abstract available.


Art meets science: The Cosmopolitan Chicken Research Project.

Stinckens A, Vereijken A, Ons E, Konings P, Van As P, Cuppens H, Moreau Y, Sakai R, Aerts J, Goddeeris B, Buys N, Vanmechelen K, Cassiman JJ.

Facts Views Vis Obgyn. 2015;7(3):163-72. Review.


Controversial identification in a historical case is illustrative of the complexity of DNA typing in forensic research. Response to Charlier et al.

Larmuseau MH, Cassiman JJ, Decorte R.

Forensic Sci Int Genet. 2014 Mar;9:e18-9. doi: 10.1016/j.fsigen.2013.10.016. Epub 2013 Nov 8.


Genetic genealogy reveals true Y haplogroup of House of Bourbon contradicting recent identification of the presumed remains of two French Kings.

Larmuseau MH, Delorme P, Germain P, Vanderheyden N, Gilissen A, Van Geystelen A, Cassiman JJ, Decorte R.

Eur J Hum Genet. 2014 May;22(5):681-7. doi: 10.1038/ejhg.2013.211. Epub 2013 Oct 9.


The ethical introduction of genome-based information and technologies into public health.

Howard HC, Swinnen E, Douw K, Vondeling H, Cassiman JJ, Cambon-Thomsen A, Borry P.

Public Health Genomics. 2013;16(3):100-9. doi: 10.1159/000346474. Epub 2013 Feb 16.


Chimeric beta-defensin analogs, including the novel 3NI analog, display salt-resistant antimicrobial activity and lack toxicity in human epithelial cell lines.

Scudiero O, Galdiero S, Nigro E, Del Vecchio L, Di Noto R, Cantisani M, Colavita I, Galdiero M, Cassiman JJ, Daniele A, Pedone C, Salvatore F.

Antimicrob Agents Chemother. 2013 Apr;57(4):1701-8. doi: 10.1128/AAC.00934-12. Epub 2013 Jan 28.


The EuroGentest Clinical Utility Gene Cards continued.

Dierking A, Schmidtke J, Matthijs G, Cassiman JJ.

Eur J Hum Genet. 2013 Jan;21(1):1. doi: 10.1038/ejhg.2012.161. No abstract available.


Can (should) molecular diagnostic labs improve the quality of their services?

Cassiman JJ.

Eur J Hum Genet. 2012 Nov;20(11):1103-4. doi: 10.1038/ejhg.2012.126. Epub 2012 Jun 27. No abstract available.


The wide variation of definitions of genetic testing in international recommendations, guidelines and reports.

Sequeiros J, Paneque M, Guimarães B, Rantanen E, Javaher P, Nippert I, Schmidtke J, Kääriäainen H, Kristoffersson U, Cassiman JJ.

J Community Genet. 2012 Apr;3(2):113-24. doi: 10.1007/s12687-012-0084-2. Epub 2012 Feb 25.


Definitions of genetic testing in European legal documents.

Varga O, Soini S, Kääriäinen H, Cassiman JJ, Nippert I, Rogowski W, Nys H, Kristoffersson U, Schmidtke J, Sequeiros J.

J Community Genet. 2012 Apr;3(2):125-41. doi: 10.1007/s12687-012-0077-1. Epub 2012 Jan 26.


Some considerations about a report on 'Public health in an era of genomic-based and personalized medicine' from the Public Health Foundation, Cambridge.

Cassiman JJ.

J Community Genet. 2011 Jun;2(2):107-9. doi: 10.1007/s12687-011-0041-5. Epub 2011 Feb 19. No abstract available.


Mutation (variation) databases and registries: a rationale for coordination of efforts.

Auerbach AD, Burn J, Cassiman JJ, Claustres M, Cotton RG, Cutting G, den Dunnen JT, El-Ruby M, Vargas AF, Greenblatt MS, Macrae F, Matsubara Y, Rimoin DL, Vihinen M, Van Broeckhoven C.

Nat Rev Genet. 2011 Oct 25;12(12):881; discussion 881. doi: 10.1038/nrg3011-c1. No abstract available.


A fair share for the orphans: ethical guidelines for a fair distribution of resources within the bounds of the 10-year-old European Orphan Drug Regulation.

Pinxten W, Denier Y, Dooms M, Cassiman JJ, Dierickx K.

J Med Ethics. 2012 Mar;38(3):148-53. doi: 10.1136/medethics-2011-100094. Epub 2011 Sep 24.


Transcription factor Zic2 inhibits Wnt/β-catenin protein signaling.

Pourebrahim R, Houtmeyers R, Ghogomu S, Janssens S, Thelie A, Tran HT, Langenberg T, Vleminckx K, Bellefroid E, Cassiman JJ, Tejpar S.

J Biol Chem. 2011 Oct 28;286(43):37732-40. doi: 10.1074/jbc.M111.242826. Epub 2011 Sep 9.


Community genetics. Its definition 2010.

Ten Kate LP, Al-Gazali L, Anand S, Bittles A, Cassiman JJ, Christianson A, Cornel MC, Hamamy H, Kääriäinen H, Kristoffersson U, Marais D, Penchaszadeh VB, Rahman P, Schmidtke J.

J Community Genet. 2010 Mar;1(1):19-22. Epub 2010 Mar 31.


Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities. Background Document to the ESHG recommendations on genetic testing and common disorders.

Becker F, van El CG, Ibarreta D, Zika E, Hogarth S, Borry P, Cambon-Thomsen A, Cassiman JJ, Evers-Kiebooms G, Hodgson S, Janssens AC, Kaariainen H, Krawczak M, Kristoffersson U, Lubinski J, Patch C, Penchaszadeh VB, Read A, Rogowski W, Sequeiros J, Tranebjaerg L, van Langen IM, Wallace H, Zimmern R, Schmidtke J, Cornel MC.

Eur J Hum Genet. 2011 Apr;19 Suppl 1:S6-44. doi: 10.1038/ejhg.2010.249. Review. No abstract available.


Children, biobanks and the scope of parental consent.

Hens K, Cassiman JJ, Nys H, Dierickx K.

Eur J Hum Genet. 2011 Jul;19(7):735-9. doi: 10.1038/ejhg.2011.29. Epub 2011 Mar 9.


Risks, benefits, solidarity: a framework for the participation of children in genetic biobank research.

Hens K, Nys H, Cassiman JJ, Dierickx K.

J Pediatr. 2011 May;158(5):842-8. doi: 10.1016/j.jpeds.2010.12.036. Epub 2011 Feb 24. Review. No abstract available.


The return of individual research findings in paediatric genetic research.

Hens K, Nys H, Cassiman JJ, Dierickx K.

J Med Ethics. 2011 Mar;37(3):179-83. doi: 10.1136/jme.2010.037473. Epub 2010 Nov 8.


Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia.

Stanke F, Becker T, Kumar V, Hedtfeld S, Becker C, Cuppens H, Tamm S, Yarden J, Laabs U, Siebert B, Fernandez L, Macek M Jr, Radojkovic D, Ballmann M, Greipel J, Cassiman JJ, Wienker TF, Tümmler B.

J Med Genet. 2011 Jan;48(1):24-31. doi: 10.1136/jmg.2010.080937. Epub 2010 Sep 12.


The EuroGentest clinical utility gene cards.

Schmidtke J, Cassiman JJ.

Eur J Hum Genet. 2010 Sep;18(9):1068. doi: 10.1038/ejhg.2010.85. No abstract available.


The use of diagnostic collections of DNA for research: interviews at the eight Belgian centers for human genetics.

Hens K, Nys H, Cassiman JJ, Dierickx K.

Eur J Med Genet. 2010 Sep-Oct;53(5):274-9. doi: 10.1016/j.ejmg.2010.07.003. Epub 2010 Jul 30.


The medical geneticist as expert in the transgenerational and developmental aspects of diseases.

Kosztolányi G, Cassiman JJ.

Eur J Hum Genet. 2010 Oct;18(10):1075-6. doi: 10.1038/ejhg.2010.100. Epub 2010 Jun 30.


An exploratory survey of professionals on the use of stored tissue samples from minors for genetic research.

Hens K, Snoeck J, Nys H, Cassiman JJ, Dierickx K.

Genet Mol Res. 2010 May 25;9(2):973-80. doi: 10.4238/vol9-2gmr781.


The storage and use of biological tissue samples from minors for research: a focus group study.

Hens K, Nys H, Cassiman JJ, Dierickx K.

Public Health Genomics. 2011;14(2):68-76. doi: 10.1159/000294185. Epub 2010 Apr 9.


Genomic copy number determines functional expression of {beta}-defensin 2 in airway epithelial cells and associates with chronic obstructive pulmonary disease.

Janssens W, Nuytten H, Dupont LJ, Van Eldere J, Vermeire S, Lambrechts D, Nackaerts K, Decramer M, Cassiman JJ, Cuppens H.

Am J Respir Crit Care Med. 2010 Jul 15;182(2):163-9. doi: 10.1164/rccm.200905-0767OC. Epub 2010 Apr 8.


Benchmarks for cystic fibrosis carrier screening: a European consensus document.

Castellani C, Macek M Jr, Cassiman JJ, Duff A, Massie J, ten Kate LP, Barton D, Cutting G, Dallapiccola B, Dequeker E, Girodon E, Grody W, Highsmith EW, Kääriäinen H, Kruip S, Morris M, Pignatti PF, Pypops U, Schwarz M, Soller M, Stuhrman M, Cuppens H.

J Cyst Fibros. 2010 May;9(3):165-78. doi: 10.1016/j.jcf.2010.02.005. Epub 2010 Apr 2.


Novel synthetic, salt-resistant analogs of human beta-defensins 1 and 3 endowed with enhanced antimicrobial activity.

Scudiero O, Galdiero S, Cantisani M, Di Noto R, Vitiello M, Galdiero M, Naclerio G, Cassiman JJ, Pedone C, Castaldo G, Salvatore F.

Antimicrob Agents Chemother. 2010 Jun;54(6):2312-22. doi: 10.1128/AAC.01550-09. Epub 2010 Mar 22.


A mutation of the epithelial sodium channel associated with atypical cystic fibrosis increases channel open probability and reduces Na+ self inhibition.

Rauh R, Diakov A, Tzschoppe A, Korbmacher J, Azad AK, Cuppens H, Cassiman JJ, Dötsch J, Sticht H, Korbmacher C.

J Physiol. 2010 Apr 15;588(Pt 8):1211-25. doi: 10.1113/jphysiol.2009.180224. Epub 2010 Mar 1.


Scope of definitions of genetic testing: evidence from a EuroGentest survey.

Pinto-Basto J, Guimarães B, Rantanen E, Javaher P, Nippert I, Cassiman JJ, Kääriäinen H, Kristoffersson U, Schmidtke J, Sequeiros J.

J Community Genet. 2010 Mar;1(1):29-35. doi: 10.1007/s12687-010-0004-2. Epub 2010 Mar 16.


Functional characterization of a partial loss-of-function mutation of the epithelial sodium channel (ENaC) associated with atypical cystic fibrosis.

Huber R, Krueger B, Diakov A, Korbmacher J, Haerteis S, Einsiedel J, Gmeiner P, Azad AK, Cuppens H, Cassiman JJ, Korbmacher C, Rauh R.

Cell Physiol Biochem. 2010;25(1):145-58. doi: 10.1159/000272059. Epub 2009 Dec 22.


Quality genetic services for the population, now and in the future.

Cassiman JJ.

Bull Mem Acad R Med Belg. 2010;165(10-12):475-82.


Genetic research on stored tissue samples from minors: a systematic review of the ethical literature.

Hens K, Nys H, Cassiman JJ, Dierickx K.

Am J Med Genet A. 2009 Oct;149A(10):2346-58. doi: 10.1002/ajmg.a.33032. Review.


Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease.

Azad AK, Rauh R, Vermeulen F, Jaspers M, Korbmacher J, Boissier B, Bassinet L, Fichou Y, des Georges M, Stanke F, De Boeck K, Dupont L, Balascáková M, Hjelte L, Lebecque P, Radojkovic D, Castellani C, Schwartz M, Stuhrmann M, Schwarz M, Skalicka V, de Monestrol I, Girodon E, Férec C, Claustres M, Tümmler B, Cassiman JJ, Korbmacher C, Cuppens H.

Hum Mutat. 2009 Jul;30(7):1093-103. doi: 10.1002/humu.21011.


Accurate determination of copy number variations (CNVs): application to the alpha- and beta-defensin CNVs.

Nuytten H, Wlodarska I, Nackaerts K, Vermeire S, Vermeesch J, Cassiman JJ, Cuppens H.

J Immunol Methods. 2009 May 15;344(1):35-44. doi: 10.1016/j.jim.2009.03.002. Epub 2009 Mar 17.


Biological sample collections from minors for genetic research: a systematic review of guidelines and position papers.

Hens K, Nys H, Cassiman JJ, Dierickx K.

Eur J Hum Genet. 2009 Aug;17(8):979-90. doi: 10.1038/ejhg.2009.9.


Immunohistochemical evidence for Zic1 coexpression with beta-catenin in the myofibroblast of Dupuytren disease.

Degreef I, De Smet L, Sciot R, Cassiman JJ, Tejpar S.

Scand J Plast Reconstr Surg Hand Surg. 2009;43(1):36-40. doi: 10.1080/02844310802489806.


Genetic analysis of Rwandan patients with cystic fibrosis-like symptoms: identification of novel cystic fibrosis transmembrane conductance regulator and epithelial sodium channel gene variants.

Mutesa L, Azad AK, Verhaeghe C, Segers K, Vanbellinghen JF, Ngendahayo L, Rusingiza EK, Mutwa PR, Rulisa S, Koulischer L, Cassiman JJ, Cuppens H, Bours V.

Chest. 2009 May;135(5):1233-1242. doi: 10.1378/chest.08-2246. Epub 2008 Nov 18.


Cystic fibrosis transmembrane conductance regulator gene polymorphisms in patients with primary sclerosing cholangitis.

Henckaerts L, Jaspers M, Van Steenbergen W, Vliegen L, Fevery J, Nuytten H, Roskams T, Rutgeerts P, Cassiman JJ, Vermeire S, Cuppens H.

J Hepatol. 2009 Jan;50(1):150-7. doi: 10.1016/j.jhep.2008.07.033. Epub 2008 Oct 7.


Beta-catenin overexpression in Dupuytren's disease is unrelated to disease recurrence.

Degreef I, De Smet L, Sciot R, Cassiman JJ, Tejpar S.

Clin Orthop Relat Res. 2009 Mar;467(3):838-45. doi: 10.1007/s11999-008-0590-z. Epub 2008 Oct 29.


Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

Castellani C, Cuppens H, Macek M Jr, Cassiman JJ, Kerem E, Durie P, Tullis E, Assael BM, Bombieri C, Brown A, Casals T, Claustres M, Cutting GR, Dequeker E, Dodge J, Doull I, Farrell P, Ferec C, Girodon E, Johannesson M, Kerem B, Knowles M, Munck A, Pignatti PF, Radojkovic D, Rizzotti P, Schwarz M, Stuhrmann M, Tzetis M, Zielenski J, Elborn JS.

J Cyst Fibros. 2008 May;7(3):179-96. doi: 10.1016/j.jcf.2008.03.009. Review.


Guiding periodontal pocket recolonization: a proof of concept.

Teughels W, Newman MG, Coucke W, Haffajee AD, Van Der Mei HC, Haake SK, Schepers E, Cassiman JJ, Van Eldere J, van Steenberghe D, Quirynen M.

J Dent Res. 2007 Nov;86(11):1078-82.


ZIC1 gene expression is controlled by DNA and histone methylation in mesenchymal proliferations.

Pourebrahim R, Van Dam K, Bauters M, De Wever I, Sciot R, Cassiman JJ, Tejpar S.

FEBS Lett. 2007 Oct 30;581(26):5122-6. Epub 2007 Oct 8.


Analysis of the CFTR gene in Iranian cystic fibrosis patients: identification of eight novel mutations.

Alibakhshi R, Kianishirazi R, Cassiman JJ, Zamani M, Cuppens H.

J Cyst Fibros. 2008 Mar;7(2):102-9. Epub 2007 Jul 27.


TGF-beta modulates beta-Catenin stability and signaling in mesenchymal proliferations.

Amini Nik S, Ebrahim RP, Van Dam K, Cassiman JJ, Tejpar S.

Exp Cell Res. 2007 Aug 1;313(13):2887-95. Epub 2007 Jun 2.


Bacteria interfere with A. actinomycetemcomitans colonization.

Teughels W, Kinder Haake S, Sliepen I, Pauwels M, Van Eldere J, Cassiman JJ, Quirynen M.

J Dent Res. 2007 Jul;86(7):611-7.


Upregulation of Wilms' tumour gene 1 (WT1) in uterine sarcomas.

Coosemans A, Nik SA, Caluwaerts S, Lambin S, Verbist G, Van Bree R, Schelfhout V, de Jonge E, Dalle I, Jacomen G, Cassiman JJ, Moerman P, Vergote I, Amant F.

Eur J Cancer. 2007 Jul;43(10):1630-7. Epub 2007 May 24.


Identification and sequence analysis of discordant phenotypes between AmpFlSTR SGM Plus and PowerPlex 16.

Vanderheyden N, Mai A, Gilissen A, Cassiman JJ, Decorte R.

Int J Legal Med. 2007 Jul;121(4):297-301. Epub 2007 Apr 4.


Recommendations of the 2006 Human Variome Project meeting.

Cotton RG; 2006 Human Variome Project, Appelbe W, Auerbach AD, Becker K, Bodmer W, Boone DJ, Boulyjenkov V, Brahmachari S, Brody L, Brookes A, Brown AF, Byers P, Cantu JM, Cassiman JJ, Claustres M, Concannon P, Cotton RG, den Dunnen JT, Flicek P, Gibbs R, Hall J, Hasler J, Katz M, Kwok PY, Laradi S, Lindblom A, Maglott D, Marsh S, Masimirembwa CM, Minoshima S, de Ramirez AM, Pagon R, Ramesar R, Ravine D, Richards S, Rimoin D, Ring HZ, Scriver CR, Sherry S, Shimizu N, Stein L, Tadmouri GO, Taylor G, Watson M.

Nat Genet. 2007 Apr;39(4):433-6.


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