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Items: 1 to 50 of 262

1.

Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability.

Zablotskaya A, Van Esch H, Verstrepen KJ, Froyen G, Vermeesch JR.

BMC Med Genomics. 2018 Dec 19;11(1):123. doi: 10.1186/s12920-018-0446-7.

2.

Improved reference genome for the domestic horse increases assembly contiguity and composition.

Kalbfleisch TS, Rice ES, DePriest MS Jr, Walenz BP, Hestand MS, Vermeesch JR, O Connell BL, Fiddes IT, Vershinina AO, Saremi NF, Petersen JL, Finno CJ, Bellone RR, McCue ME, Brooks SA, Bailey E, Orlando L, Green RE, Miller DC, Antczak DF, MacLeod JN.

Commun Biol. 2018 Nov 16;1:197. doi: 10.1038/s42003-018-0199-z. eCollection 2018.

3.

Genome-wide haplotyping embryos developing from 0PN and 1PN zygotes increases transferrable embryos in PGT-M.

Destouni A, Dimitriadou E, Masset H, Debrock S, Melotte C, Van Den Bogaert K, Zamani Esteki M, Ding J, Voet T, Denayer E, de Ravel T, Legius E, Meuleman C, Peeraer K, Vermeesch JR.

Hum Reprod. 2018 Dec 1;33(12):2302-2311. doi: 10.1093/humrep/dey325.

4.

Molecular genetics of 22q11.2 deletion syndrome.

Morrow BE, McDonald-McGinn DM, Emanuel BS, Vermeesch JR, Scambler PJ.

Am J Med Genet A. 2018 Oct;176(10):2070-2081. doi: 10.1002/ajmg.a.40504. Review.

PMID:
30380194
5.

Genomewide copy number alteration screening of circulating plasma DNA: potential for the detection of incipient tumors.

Lenaerts L, Vandenberghe P, Brison N, Che H, Neofytou M, Verheecke M, Leemans L, Maggen C, Dewaele B, Dehaspe L, Vanderschueren S, Dierickx D, Vandecaveye V, Amant F, Vermeesch JR.

Ann Oncol. 2018 Oct 29. doi: 10.1093/annonc/mdy476. [Epub ahead of print]

PMID:
30371735
6.

Retraction Notice to: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.

Demaerel W, Hestand MS, Vergaelen E, Swillen A, López-Sánchez M, Pérez-Jurado LA, McDonald-McGinn DM, Zackai E, Emanuel BS, Morrow BE, Breckpot J, Devriendt K, Vermeesch JR; International 22q11.2 Brain and Behavior Consortium.

Am J Hum Genet. 2018 Sep 6;103(3):457. doi: 10.1016/j.ajhg.2018.08.011. No abstract available.

7.

A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo.

Lumaka A, Race V, Peeters H, Corveleyn A, Coban-Akdemir Z, Jhangiani SN, Song X, Mubungu G, Posey J, Lupski JR, Vermeesch JR, Lukusa P, Devriendt K.

Am J Med Genet A. 2018 Sep;176(9):1897-1909. doi: 10.1002/ajmg.a.40382. Epub 2018 Aug 8.

PMID:
30088852
8.

Response to a comment on "Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing".

Brison N, Dehaspe L, Vermeesch JR.

Prenat Diagn. 2018 Aug;38(9):722-723. doi: 10.1002/pd.5285. Epub 2018 Jul 19. No abstract available.

PMID:
30027563
9.

Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing.

Kammoun M, Souche E, Brady P, Ding J, Cosemans N, Gratacos E, Devriendt K, Eixarch E, Deprest J, Vermeesch JR.

Prenat Diagn. 2018 Aug;38(9):654-663. doi: 10.1002/pd.5327. Epub 2018 Jul 19.

PMID:
29966037
10.

Efficient CRISPR/Cas9-mediated editing of trinucleotide repeat expansion in myotonic dystrophy patient-derived iPS and myogenic cells.

Dastidar S, Ardui S, Singh K, Majumdar D, Nair N, Fu Y, Reyon D, Samara E, Gerli MFM, Klein AF, De Schrijver W, Tipanee J, Seneca S, Tulalamba W, Wang H, Chai YC, In't Veld P, Furling D, Tedesco FS, Vermeesch JR, Joung JK, Chuah MK, VandenDriessche T.

Nucleic Acids Res. 2018 Sep 19;46(16):8275-8298. doi: 10.1093/nar/gky548.

11.

Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience.

Ardui S, Race V, de Ravel T, Van Esch H, Devriendt K, Matthijs G, Vermeesch JR.

Front Genet. 2018 May 16;9:150. doi: 10.3389/fgene.2018.00150. eCollection 2018.

12.

Noise-robust assessment of SNP array based CNV calls through local noise estimation of log R ratios.

Cosemans N, Claes P, Brison N, Vermeesch JR, Peeters H.

Stat Appl Genet Mol Biol. 2018 Apr 28;17(2). pii: /j/sagmb.2018.17.issue-2/sagmb-2017-0026/sagmb-2017-0026.xml. doi: 10.1515/sagmb-2017-0026.

PMID:
29708886
13.

Novel CASK mutations in cases with syndromic microcephaly.

Cristofoli F, Devriendt K, Davis EE, Van Esch H, Vermeesch JR.

Hum Mutat. 2018 Jul;39(7):993-1001. doi: 10.1002/humu.23536. Epub 2018 May 11.

PMID:
29691940
14.

NIPTmer: rapid k-mer-based software package for detection of fetal aneuploidies.

Sauk M, Žilina O, Kurg A, Ustav EL, Peters M, Paluoja P, Roost AM, Teder H, Palta P, Brison N, Vermeesch JR, Krjutškov K, Salumets A, Kaplinski L.

Sci Rep. 2018 Apr 4;8(1):5616. doi: 10.1038/s41598-018-23589-8.

15.

Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics.

Ardui S, Ameur A, Vermeesch JR, Hestand MS.

Nucleic Acids Res. 2018 Mar 16;46(5):2159-2168. doi: 10.1093/nar/gky066.

16.

The genetic structure of the Belgian population.

Van den Eynden J, Descamps T, Delporte E, Roosens NHC, De Keersmaecker SCJ, De Wit V, Vermeesch JR, Goetghebeur E, Tafforeau J, Demarest S, Van den Bulcke M, Van Oyen H.

Hum Genomics. 2018 Feb 2;12(1):6. doi: 10.1186/s40246-018-0136-8.

17.

A speculative outlook on embryonic aneuploidy: Can molecular pathways be involved?

Tšuiko O, Jatsenko T, Parameswaran Grace LK, Kurg A, Vermeesch JR, Lanner F, Altmäe S, Salumets A.

Dev Biol. 2018 Jan 31. pii: S0012-1606(17)30341-X. doi: 10.1016/j.ydbio.2018.01.014. [Epub ahead of print] Review.

PMID:
29391166
18.

Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing.

Brison N, Neofytou M, Dehaspe L, Bayindir B, Van Den Bogaert K, Dardour L, Peeters H, Van Esch H, Van Buggenhout G, Vogels A, de Ravel T, Legius E, Devriendt K, Vermeesch JR.

Prenat Diagn. 2018 Mar;38(4):258-266. doi: 10.1002/pd.5223. Epub 2018 Feb 19.

PMID:
29388226
19.

Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.

Guo T, Diacou A, Nomaru H, McDonald-McGinn DM, Hestand M, Demaerel W, Zhang L, Zhao Y, Ujueta F, Shan J, Montagna C, Zheng D, Crowley TB, Kushan-Wells L, Bearden CE, Kates WR, Gothelf D, Schneider M, Eliez S, Breckpot J, Swillen A, Vorstman J, Zackai E, Benavides Gonzalez F, Repetto GM, Emanuel BS, Bassett AS, Vermeesch JR, Marshall CR, Morrow BE; International Chromosome 22q11.2, International 22q11.2 Brain and Behavior Consortia.

Hum Mol Genet. 2018 Apr 1;27(7):1150-1163. doi: 10.1093/hmg/ddy028.

PMID:
29361080
20.

Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?

Kammoun M, Brady P, De Catte L, Deprest J, Devriendt K, Vermeesch JR.

Eur J Hum Genet. 2018 Mar;26(3):359-366. doi: 10.1038/s41431-017-0032-z. Epub 2018 Jan 22.

PMID:
29358614
21.

Conventional and Single-Molecule Targeted Sequencing Method for Specific Variant Detection in IKBKG while Bypassing the IKBKGP1 Pseudogene.

Frans G, Meert W, Van der Werff Ten Bosch J, Meyts I, Bossuyt X, Vermeesch JR, Hestand MS.

J Mol Diagn. 2018 Mar;20(2):195-202. doi: 10.1016/j.jmoldx.2017.10.005. Epub 2017 Dec 18.

PMID:
29269280
22.

Maternal liver transplant: Another cause of discordant fetal sex determination using cell-free DNA.

Neofytou M, Brison N, Van den Bogaert K, Dehaspe L, Devriendt K, Geerts A, Vermeesch JR.

Prenat Diagn. 2018 Jan;38(2):148-150. doi: 10.1002/pd.5194. Epub 2018 Jan 4.

PMID:
29239474
23.

Novel STIL Compound Heterozygous Mutations Cause Severe Fetal Microcephaly and Centriolar Lengthening.

Cristofoli F, De Keersmaecker B, De Catte L, Vermeesch JR, Van Esch H.

Mol Syndromol. 2017 Nov;8(6):282-293. doi: 10.1159/000479666. Epub 2017 Sep 27.

24.

Recent developments in genetics and medically assisted reproduction: from research to clinical applications.

Harper JC, Aittomäki K, Borry P, Cornel MC, de Wert G, Dondorp W, Geraedts J, Gianaroli L, Ketterson K, Liebaers I, Lundin K, Mertes H, Morris M, Pennings G, Sermon K, Spits C, Soini S, van Montfoort APA, Veiga A, Vermeesch JR, Viville S, Macek M Jr; on behalf of the European Society of Human Reproduction and Embryology and European Society of Human Genetics.

Eur J Hum Genet. 2018 Jan;26(1):12-33. doi: 10.1038/s41431-017-0016-z. Epub 2017 Dec 4. Review.

25.

An incidental finding of maternal multiple myeloma by non invasive prenatal testing.

Imbert-Bouteille M, Chiesa J, Gaillard JB, Dorvaux V, Altounian L, Gatinois V, Mousty E, Finge S, Bourquard P, Vermeesch JR, Legius E, Vandenberghe P.

Prenat Diagn. 2017 Dec;37(12):1257-1260. doi: 10.1002/pd.5168. Epub 2017 Nov 28. No abstract available.

26.

Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.

Demaerel W, Hestand MS, Vergaelen E, Swillen A, López-Sánchez M, Pérez-Jurado LA, McDonald-McGinn DM, Zackai E, Emanuel BS, Morrow BE, Breckpot J, Devriendt K, Vermeesch JR; International 22q11.2 Brain and Behavior Consortium.

Am J Hum Genet. 2017 Oct 5;101(4):616-622. doi: 10.1016/j.ajhg.2017.09.002. Epub 2017 Sep 28. Retraction in: Am J Hum Genet. 2018 Sep 6;103(3):457.

27.

Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.

Bassett AS, Lowther C, Merico D, Costain G, Chow EWC, van Amelsvoort T, McDonald-McGinn D, Gur RE, Swillen A, Van den Bree M, Murphy K, Gothelf D, Bearden CE, Eliez S, Kates W, Philip N, Sashi V, Campbell L, Vorstman J, Cubells J, Repetto GM, Simon T, Boot E, Heung T, Evers R, Vingerhoets C, van Duin E, Zackai E, Vergaelen E, Devriendt K, Vermeesch JR, Owen M, Murphy C, Michaelovosky E, Kushan L, Schneider M, Fremont W, Busa T, Hooper S, McCabe K, Duijff S, Isaev K, Pellecchia G, Wei J, Gazzellone MJ, Scherer SW, Emanuel BS, Guo T, Morrow BE, Marshall CR; International 22q11.2DS Brain and Behavior Consortium.

Am J Psychiatry. 2017 Nov 1;174(11):1054-1063. doi: 10.1176/appi.ajp.2017.16121417. Epub 2017 Jul 28.

28.

Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability.

Reggiani C, Coppens S, Sekhara T, Dimov I, Pichon B, Lufin N, Addor MC, Belligni EF, Digilio MC, Faletra F, Ferrero GB, Gerard M, Isidor B, Joss S, Niel-Bütschi F, Perrone MD, Petit F, Renieri A, Romana S, Topa A, Vermeesch JR, Lenaerts T, Casimir G, Abramowicz M, Bontempi G, Vilain C, Deconinck N, Smits G.

Genome Med. 2017 Jul 19;9(1):67. doi: 10.1186/s13073-017-0452-y.

29.

Modulation of Aneuploidy in Leishmania donovani during Adaptation to Different In Vitro and In Vivo Environments and Its Impact on Gene Expression.

Dumetz F, Imamura H, Sanders M, Seblova V, Myskova J, Pescher P, Vanaerschot M, Meehan CJ, Cuypers B, De Muylder G, Späth GF, Bussotti G, Vermeesch JR, Berriman M, Cotton JA, Volf P, Dujardin JC, Domagalska MA.

MBio. 2017 May 23;8(3). pii: e00599-17. doi: 10.1128/mBio.00599-17.

30.

Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.

Novara F, Rinaldi B, Sisodiya SM, Coppola A, Giglio S, Stanzial F, Benedicenti F, Donaldson A, Andrieux J, Stapleton R, Weber A, Reho P, van Ravenswaaij-Arts C, Kerstjens-Frederikse WS, Vermeesch JR, Devriendt K, Bacino CA, Delahaye A, Maas SM, Iolascon A, Zuffardi O.

Eur J Hum Genet. 2017 Jun;25(6):694-701. doi: 10.1038/ejhg.2017.49. Epub 2017 Apr 19.

31.

How can zygotes segregate entire parental genomes into distinct blastomeres? The zygote metaphase revisited.

Destouni A, Vermeesch JR.

Bioessays. 2017 Apr;39(4). doi: 10.1002/bies.201600226. Epub 2017 Mar 1. Review.

PMID:
28247957
32.

Mutational Processes Shaping the Genome in Early Human Embryos.

Voet T, Vermeesch JR.

Cell. 2017 Feb 23;168(5):751-753. doi: 10.1016/j.cell.2017.02.008.

33.

Principles guiding embryo selection following genome-wide haplotyping of preimplantation embryos.

Dimitriadou E, Melotte C, Debrock S, Esteki MZ, Dierickx K, Voet T, Devriendt K, de Ravel T, Legius E, Peeraer K, Meuleman C, Vermeesch JR.

Hum Reprod. 2017 Mar 1;32(3):687-697. doi: 10.1093/humrep/dex011.

PMID:
28158716
34.

Detecting mosaicism in trophectoderm biopsies.

Sermon KD, Spits C, Mertzanidou A, Vermeesch JR, Fiorentino F.

Hum Reprod. 2017 Mar 1;32(3):712-713. doi: 10.1093/humrep/dew346. No abstract available.

PMID:
28043945
35.

Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing.

Ardui S, Race V, Zablotskaya A, Hestand MS, Van Esch H, Devriendt K, Matthijs G, Vermeesch JR.

Hum Mutat. 2017 Mar;38(3):324-331. doi: 10.1002/humu.23150. Epub 2017 Jan 17.

PMID:
27883256
36.

Current controversies in prenatal diagnosis 3: industry drives innovation in research and clinical application of genetic prenatal diagnosis and screening.

Evans MI, Vermeesch JR.

Prenat Diagn. 2016 Dec;36(13):1172-1177. doi: 10.1002/pd.4967. Epub 2016 Dec 6. No abstract available.

PMID:
27862087
37.

Prenatal and pre-implantation genetic diagnosis.

Vermeesch JR, Voet T, Devriendt K.

Nat Rev Genet. 2016 Sep 15;17(10):643-56. doi: 10.1038/nrg.2016.97. Review.

PMID:
27629932
38.

Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies.

Brison N, Van Den Bogaert K, Dehaspe L, van den Oever JM, Janssens K, Blaumeiser B, Peeters H, Van Esch H, Van Buggenhout G, Vogels A, de Ravel T, Legius E, Devriendt K, Vermeesch JR.

Genet Med. 2017 Mar;19(3):306-313. doi: 10.1038/gim.2016.113. Epub 2016 Sep 1.

PMID:
27584908
39.

Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor.

Breckpot J, Vercruyssen M, Weyts E, Vandevoort S, D'Haenens G, Van Buggenhout G, Leempoels L, Brischoux-Boucher E, Van Maldergem L, Renieri A, Mencarelli MA, D'Angelo C, Mericq V, Hoffer MJ, Tauber M, Molinas C, Castiglioni C, Brison N, Vermeesch JR, Danckaerts M, Sienaert P, Devriendt K, Vogels A.

Eur J Med Genet. 2016 Sep;59(9):436-43. doi: 10.1016/j.ejmg.2016.08.003. Epub 2016 Aug 9.

PMID:
27519580
40.

Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis.

Guo X, Delio M, Haque N, Castellanos R, Hestand MS, Vermeesch JR, Morrow BE, Zheng D.

Hum Mol Genet. 2016 Sep 1;25(17):3754-3767. doi: 10.1093/hmg/ddw221. Epub 2016 Jul 19.

41.

Maternal vitamin B12 deficiency and abnormal cell-free DNA results in pregnancy.

Schuring-Blom H, Lichtenbelt K, van Galen K, Elferink M, Weiss M, Vermeesch JR, Page-Christiaens L.

Prenat Diagn. 2016 Aug;36(8):790-3. doi: 10.1002/pd.4863. Epub 2016 Jul 17. No abstract available.

PMID:
27328203
42.

A catalog of hemizygous variation in 127 22q11 deletion patients.

Hestand MS, Nowakowska BA, Vergaelen E, Van Houdt J, Dehaspe L, Suhl JA, Del-Favero J, Mortier G, Zackai E, Swillen A, Devriendt K, Gur RE, McDonald-McGinn DM, Warren ST, Emanuel BS, Vermeesch JR.

Hum Genome Var. 2016 Jan 14;3:15065. doi: 10.1038/hgv.2015.65. eCollection 2016.

43.

The why, the how and the when of PGS 2.0: current practices and expert opinions of fertility specialists, molecular biologists, and embryologists.

Sermon K, Capalbo A, Cohen J, Coonen E, De Rycke M, De Vos A, Delhanty J, Fiorentino F, Gleicher N, Griesinger G, Grifo J, Handyside A, Harper J, Kokkali G, Mastenbroek S, Meldrum D, Meseguer M, Montag M, Munné S, Rienzi L, Rubio C, Scott K, Scott R, Simon C, Swain J, Treff N, Ubaldi F, Vassena R, Vermeesch JR, Verpoest W, Wells D, Geraedts J.

Mol Hum Reprod. 2016 Aug;22(8):845-57. doi: 10.1093/molehr/gaw034. Epub 2016 Jun 2. Review.

44.

Zygotes segregate entire parental genomes in distinct blastomere lineages causing cleavage-stage chimerism and mixoploidy.

Destouni A, Zamani Esteki M, Catteeuw M, Tšuiko O, Dimitriadou E, Smits K, Kurg A, Salumets A, Van Soom A, Voet T, Vermeesch JR.

Genome Res. 2016 May;26(5):567-78. doi: 10.1101/gr.200527.115. Epub 2016 Apr 12.

45.

Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.

Fieremans N, Van Esch H, Holvoet M, Van Goethem G, Devriendt K, Rosello M, Mayo S, Martinez F, Jhangiani S, Muzny DM, Gibbs RA, Lupski JR, Vermeesch JR, Marynen P, Froyen G.

Hum Mutat. 2016 Aug;37(8):804-11. doi: 10.1002/humu.23012. Epub 2016 May 25.

46.

Reciprocal 22q11.2 Deletion and Duplication in Siblings with Karyotypically Normal Parents.

Demaerel W, Hosseinzadeh M, Nouri N, Sedghi M, Dimitriadou E, Salehi M, Abdali H, Memarzadeh M, Zamani M, Vermeesch JR.

Cytogenet Genome Res. 2016;148(1):1-5. doi: 10.1159/000445089. Epub 2016 Apr 8.

PMID:
27055209
47.

A Distinct Class of Chromoanagenesis Events Characterized by Focal Copy Number Gains.

Masset H, Hestand MS, Van Esch H, Kleinfinger P, Plaisancié J, Afenjar A, Molignier R, Schluth-Bolard C, Sanlaville D, Vermeesch JR.

Hum Mutat. 2016 Jul;37(7):661-8. doi: 10.1002/humu.22984. Epub 2016 Apr 6.

PMID:
26936114
48.

Polymerase specific error rates and profiles identified by single molecule sequencing.

Hestand MS, Van Houdt J, Cristofoli F, Vermeesch JR.

Mutat Res. 2016 Feb-Mar;784-785:39-45. doi: 10.1016/j.mrfmmm.2016.01.003. Epub 2016 Jan 19.

PMID:
26829216
49.

Pulmonary transcriptome analysis in the surgically induced rabbit model of diaphragmatic hernia treated with fetal tracheal occlusion.

Engels AC, Brady PD, Kammoun M, Finalet Ferreiro J, DeKoninck P, Endo M, Toelen J, Vermeesch JR, Deprest J.

Dis Model Mech. 2016 Feb;9(2):221-8. doi: 10.1242/dmm.021626. Epub 2016 Jan 7.

50.

Non-invasive detection of genomic imbalances in Hodgkin/Reed-Sternberg cells in early and advanced stage Hodgkin's lymphoma by sequencing of circulating cell-free DNA: a technical proof-of-principle study.

Vandenberghe P, Wlodarska I, Tousseyn T, Dehaspe L, Dierickx D, Verheecke M, Uyttebroeck A, Bechter O, Delforge M, Vandecaveye V, Brison N, Verhoef GE, Legius E, Amant F, Vermeesch JR.

Lancet Haematol. 2015 Feb;2(2):e55-65. doi: 10.1016/S2352-3026(14)00039-8. Epub 2015 Jan 20.

PMID:
26687610

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