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Items: 1 to 50 of 124

1.

PREFACE: In silico pipeline for accurate cell-free fetal DNA fraction prediction.

Raman L, Baetens M, De Smet M, Dheedene A, Van Dorpe J, Menten B.

Prenat Diagn. 2019 Sep;39(10):925-933. doi: 10.1002/pd.5508. Epub 2019 Jul 11.

2.

Circulating cell-free DNA for response evaluation of intravascular lymphoma.

Deeren D, Van Der Linden M, Dedeurwaerdere F, Deleu L, Meert C, Menten B, Van Dorpe J.

Ann Hematol. 2019 Aug;98(8):2021-2023. doi: 10.1007/s00277-019-03677-z. Epub 2019 Apr 6. No abstract available.

PMID:
30955061
3.

Extended in vitro culture of human embryos demonstrates the complex nature of diagnosing chromosomal mosaicism from a single trophectoderm biopsy.

Popovic M, Dhaenens L, Taelman J, Dheedene A, Bialecka M, De Sutter P, Chuva de Sousa Lopes SM, Menten B, Heindryckx B.

Hum Reprod. 2019 Apr 1;34(4):758-769. doi: 10.1093/humrep/dez012.

PMID:
30838420
4.

WNT Inhibition and Increased FGF Signaling Promotes Derivation of Less Heterogeneous Primed Human Embryonic Stem Cells, Compatible with Differentiation.

Taelman J, Popovic M, Bialecka M, Tilleman L, Warrier S, Van Der Jeught M, Menten B, Deforce D, De Sutter P, Van Nieuwerburgh F, Abe K, Heindryckx B, Chuva de Sousa Lopes SM.

Stem Cells Dev. 2019 May 1;28(9):579-592. doi: 10.1089/scd.2018.0199. Epub 2019 Apr 2.

PMID:
30827199
5.

Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in MTFMT.

Hemelsoet DM, Vanlander AV, Smet J, Vantroys E, Acou M, Goethals I, Sante T, Seneca S, Menten B, Van Coster R.

Neurol Genet. 2018 Nov 27;4(6):e298. doi: 10.1212/NXG.0000000000000298. eCollection 2018 Dec.

6.

WisecondorX: improved copy number detection for routine shallow whole-genome sequencing.

Raman L, Dheedene A, De Smet M, Van Dorpe J, Menten B.

Nucleic Acids Res. 2019 Feb 28;47(4):1605-1614. doi: 10.1093/nar/gky1263.

7.

A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett-like characteristics.

D'haene E, Bar-Yaacov R, Bariah I, Vantomme L, Van Loo S, Cobos FA, Verboom K, Eshel R, Alatawna R, Menten B, Birnbaum RY, Vergult S.

Hum Mol Genet. 2019 Mar 1;28(5):818-827. doi: 10.1093/hmg/ddy393.

8.

PRC2 loss induces chemoresistance by repressing apoptosis in T cell acute lymphoblastic leukemia.

Ariës IM, Bodaar K, Karim SA, Chonghaile TN, Hinze L, Burns MA, Pfirrmann M, Degar J, Landrigan JT, Balbach S, Peirs S, Menten B, Isenhart R, Stevenson KE, Neuberg DS, Devidas M, Loh ML, Hunger SP, Teachey DT, Rabin KR, Winter SS, Dunsmore KP, Wood BL, Silverman LB, Sallan SE, Van Vlierberghe P, Orkin SH, Knoechel B, Letai AG, Gutierrez A.

J Exp Med. 2018 Dec 3;215(12):3094-3114. doi: 10.1084/jem.20180570. Epub 2018 Nov 7.

9.

Publisher Correction: BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment.

Boel A, Steyaert W, De Rocker N, Menten B, Callewaert B, De Paepe A, Coucke P, Willaert A.

Sci Rep. 2018 Oct 29;8(1):15845. doi: 10.1038/s41598-018-33869-y.

10.

The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations.

Muys J, Blaumeiser B, Jacquemyn Y, Bandelier C, Brison N, Bulk S, Chiarappa P, Courtens W, De Leener A, De Rademaeker M, Désir J, Destrée A, Devriendt K, Dheedene A, Fieuw A, Fransen E, Gatot JS, Holmgren P, Jamar M, Janssens S, Keymolen K, Lederer D, Menten B, Meuwissen M, Parmentier B, Pichon B, Rombout S, Sznajer Y, Van Den Bogaert A, Van Den Bogaert K, Vanakker O, Vermeesch J, Janssens K.

Prenat Diagn. 2018 Dec;38(13):1120-1128. doi: 10.1002/pd.5373. Epub 2018 Nov 14.

PMID:
30334587
11.

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome.

Costain G, Callewaert B, Gabriel H, Tan TY, Walker S, Christodoulou J, Lazar T, Menten B, Orkin J, Sadedin S, Snell M, Vanlander A, Vergult S, White SM, Scherer SW, Hayeems RZ, Blaser S, Wodak SJ, Chitayat D, Marshall CR, Meyn MS.

Genet Med. 2019 Apr;21(4):1021-1026. doi: 10.1038/s41436-018-0323-y. Epub 2018 Oct 8.

PMID:
30293988
12.

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation.

Basilicata MF, Bruel AL, Semplicio G, Valsecchi CIK, Aktaş T, Duffourd Y, Rumpf T, Morton J, Bache I, Szymanski WG, Gilissen C, Vanakker O, Õunap K, Mittler G, van der Burgt I, El Chehadeh S, Cho MT, Pfundt R, Tan TY, Kirchhoff M, Menten B, Vergult S, Lindstrom K, Reis A, Johnson DS, Fryer A, McKay V; DDD Study, Fisher RB, Thauvin-Robinet C, Francis D, Roscioli T, Pajusalu S, Radtke K, Ganesh J, Brunner HG, Wilson M, Faivre L, Kalscheuer VM, Thevenon J, Akhtar A.

Nat Genet. 2018 Oct;50(10):1442-1451. doi: 10.1038/s41588-018-0220-y. Epub 2018 Sep 17.

PMID:
30224647
13.

Targeted Genomic Screen Reveals Focal Long Non-Coding RNA Copy Number Alterations in Cancer Cell Lines.

Volders PJ, Lefever S, Baute S, Nuytens J, Vanderheyden K, Menten B, Mestdagh P, Vandesompele J.

Noncoding RNA. 2018 Sep 13;4(3). pii: E21. doi: 10.3390/ncrna4030021.

14.

Chromosomal mosaicism in human blastocysts: the ultimate challenge of preimplantation genetic testing?

Popovic M, Dheedene A, Christodoulou C, Taelman J, Dhaenens L, Van Nieuwerburgh F, Deforce D, Van den Abbeel E, De Sutter P, Menten B, Heindryckx B.

Hum Reprod. 2018 Jul 1;33(7):1342-1354. doi: 10.1093/humrep/dey106.

PMID:
29796631
15.

Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency.

Vantroys E, Smet J, Vanlander AV, Vergult S, De Bruyne R, Roels F, Stepman H, Roeyers H, Menten B, Van Coster R.

Orphanet J Rare Dis. 2018 May 21;13(1):80. doi: 10.1186/s13023-018-0822-6.

16.

Comparative analysis of naive, primed and ground state pluripotency in mouse embryonic stem cells originating from the same genetic background.

Ghimire S, Van der Jeught M, Neupane J, Roost MS, Anckaert J, Popovic M, Van Nieuwerburgh F, Mestdagh P, Vandesompele J, Deforce D, Menten B, Chuva de Sousa Lopes S, De Sutter P, Heindryckx B.

Sci Rep. 2018 Apr 12;8(1):5884. doi: 10.1038/s41598-018-24051-5.

17.

The mutational landscape of MYCN, Lin28b and ALKF1174L driven murine neuroblastoma mimics human disease.

De Wilde B, Beckers A, Lindner S, Kristina A, De Preter K, Depuydt P, Mestdagh P, Sante T, Lefever S, Hertwig F, Peng Z, Shi LM, Lee S, Vandermarliere E, Martens L, Menten B, Schramm A, Fischer M, Schulte J, Vandesompele J, Speleman F.

Oncotarget. 2017 Dec 22;9(9):8334-8349. doi: 10.18632/oncotarget.23614. eCollection 2018 Feb 2.

18.

CRISPR/Cas9-mediated genome editing in naïve human embryonic stem cells.

Jacobs EZ, Warrier S, Volders PJ, D'haene E, Van Lombergen E, Vantomme L, Van der Jeught M, Heindryckx B, Menten B, Vergult S.

Sci Rep. 2017 Nov 30;7(1):16650. doi: 10.1038/s41598-017-16932-y.

19.

New insights into the phenotype of FARS2 deficiency.

Vantroys E, Larson A, Friederich M, Knight K, Swanson MA, Powell CA, Smet J, Vergult S, De Paepe B, Seneca S, Roeyers H, Menten B, Minczuk M, Vanlander A, Van Hove J, Van Coster R.

Mol Genet Metab. 2017 Dec;122(4):172-181. doi: 10.1016/j.ymgme.2017.10.004. Epub 2017 Oct 12.

20.

Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability.

Van Paemel R, De Bruyne P, van der Straaten S, D'hondt M, Fränkel U, Dheedene A, Menten B, Callewaert B.

Am J Med Genet A. 2017 Nov;173(11):3104-3108. doi: 10.1002/ajmg.a.38407. Epub 2017 Sep 8.

PMID:
28884947
21.

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F.

Nat Genet. 2017 Oct;49(10):1529-1538. doi: 10.1038/ng.3933. Epub 2017 Aug 14.

22.

FOXP1-related intellectual disability syndrome: a recognisable entity.

Meerschaut I, Rochefort D, Revençu N, Pètre J, Corsello C, Rouleau GA, Hamdan FF, Michaud JL, Morton J, Radley J, Ragge N, García-Miñaúr S, Lapunzina P, Bralo MP, Mori MÁ, Moortgat S, Benoit V, Mary S, Bockaert N, Oostra A, Vanakker O, Velinov M, de Ravel TJ, Mekahli D, Sebat J, Vaux KK, DiDonato N, Hanson-Kahn AK, Hudgins L, Dallapiccola B, Novelli A, Tarani L, Andrieux J, Parker MJ, Neas K, Ceulemans B, Schoonjans AS, Prchalova D, Havlovicova M, Hancarova M, Budisteanu M, Dheedene A, Menten B, Dion PA, Lederer D, Callewaert B.

J Med Genet. 2017 Sep;54(9):613-623. doi: 10.1136/jmedgenet-2017-104579. Epub 2017 Jul 22. Erratum in: J Med Genet. 2018 Jan;55(1):72-73. J Med Genet. 2018 Feb 13;:.

PMID:
28735298
23.

Shallow Whole Genome Sequencing on Circulating Cell-Free DNA Allows Reliable Noninvasive Copy-Number Profiling in Neuroblastoma Patients.

Van Roy N, Van Der Linden M, Menten B, Dheedene A, Vandeputte C, Van Dorpe J, Laureys G, Renard M, Sante T, Lammens T, De Wilde B, Speleman F, De Preter K.

Clin Cancer Res. 2017 Oct 15;23(20):6305-6314. doi: 10.1158/1078-0432.CCR-17-0675. Epub 2017 Jul 14.

24.

Direct comparison of distinct naive pluripotent states in human embryonic stem cells.

Warrier S, Van der Jeught M, Duggal G, Tilleman L, Sutherland E, Taelman J, Popovic M, Lierman S, Chuva De Sousa Lopes S, Van Soom A, Peelman L, Van Nieuwerburgh F, De Coninck DIM, Menten B, Mestdagh P, Van de Sompele J, Deforce D, De Sutter P, Heindryckx B.

Nat Commun. 2017 Apr 21;8:15055. doi: 10.1038/ncomms15055.

25.

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, An Y, Anderson MA, Antolik C, Anyane-Yeboa K, Atkin JF, Bartell T, Bernstein JA, Beyer E, Blumenthal I, Bongers EM, Brilstra EH, Brown CW, Brüggenwirth HT, Callewaert B, Chiang C, Corning K, Cox H, Cuppen E, Currall BB, Cushing T, David D, Deardorff MA, Dheedene A, D'Hooghe M, de Vries BB, Earl DL, Ferguson HL, Fisher H, FitzPatrick DR, Gerrol P, Giachino D, Glessner JT, Gliem T, Grady M, Graham BH, Griffis C, Gripp KW, Gropman AL, Hanson-Kahn A, Harris DJ, Hayden MA, Hill R, Hochstenbach R, Hoffman JD, Hopkin RJ, Hubshman MW, Innes AM, Irons M, Irving M, Jacobsen JC, Janssens S, Jewett T, Johnson JP, Jongmans MC, Kahler SG, Koolen DA, Korzelius J, Kroisel PM, Lacassie Y, Lawless W, Lemyre E, Leppig K, Levin AV, Li H, Li H, Liao EC, Lim C, Lose EJ, Lucente D, Macera MJ, Manavalan P, Mandrile G, Marcelis CL, Margolin L, Mason T, Masser-Frye D, McClellan MW, Mendoza CJ, Menten B, Middelkamp S, Mikami LR, Moe E, Mohammed S, Mononen T, Mortenson ME, Moya G, Nieuwint AW, Ordulu Z, Parkash S, Pauker SP, Pereira S, Perrin D, Phelan K, Aguilar RE, Poddighe PJ, Pregno G, Raskin S, Reis L, Rhead W, Rita D, Renkens I, Roelens F, Ruliera J, Rump P, Schilit SL, Shaheen R, Sparkes R, Spiegel E, Stevens B, Stone MR, Tagoe J, Thakuria JV, van Bon BW, van de Kamp J, van Der Burgt I, van Essen T, van Ravenswaaij-Arts CM, van Roosmalen MJ, Vergult S, Volker-Touw CM, Warburton DP, Waterman MJ, Wiley S, Wilson A, Yerena-de Vega MC, Zori RT, Levy B, Brunner HG, de Leeuw N, Kloosterman WP, Thorland EC, Morton CC, Gusella JF, Talkowski ME.

Nat Genet. 2017 Jan;49(1):36-45. doi: 10.1038/ng.3720. Epub 2016 Nov 14.

26.

Preimplantation genetic diagnosis for chromosomal rearrangements with the use of array comparative genomic hybridization at the blastocyst stage.

Christodoulou C, Dheedene A, Heindryckx B, van Nieuwerburgh F, Deforce D, De Sutter P, Menten B, Van den Abbeel E.

Fertil Steril. 2017 Jan;107(1):212-219.e3. doi: 10.1016/j.fertnstert.2016.09.045. Epub 2016 Oct 25.

PMID:
27793373
27.

Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1.

Peeters K, Palaima P, Pelayo-Negro AL, García A, Gallardo E, García-Barredo R, Mateiu L, Baets J, Menten B, De Vriendt E, De Jonghe P, Timmerman V, Infante J, Berciano J, Jordanova A.

Ann Neurol. 2016 Dec;80(6):823-833. doi: 10.1002/ana.24775. Epub 2016 Sep 30.

PMID:
27686364
28.

arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs.

Van Cauwenbergh C, Van Schil K, Cannoodt R, Bauwens M, Van Laethem T, De Jaegere S, Steyaert W, Sante T, Menten B, Leroy BP, Coppieters F, De Baere E.

Genet Med. 2017 Apr;19(4):457-466. doi: 10.1038/gim.2016.119. Epub 2016 Sep 8.

29.

Flexible analysis of digital PCR experiments using generalized linear mixed models.

Vynck M, Vandesompele J, Nijs N, Menten B, De Ganck A, Thas O.

Biomol Detect Quantif. 2016 Jun 24;9:1-13. doi: 10.1016/j.bdq.2016.06.001. eCollection 2016 Sep.

30.

Performance of a TthPrimPol-based whole genome amplification kit for copy number alteration detection using massively parallel sequencing.

Deleye L, De Coninck D, Dheedene A, De Sutter P, Menten B, Deforce D, Van Nieuwerburgh F.

Sci Rep. 2016 Aug 22;6:31825. doi: 10.1038/srep31825.

31.

BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment.

Boel A, Steyaert W, De Rocker N, Menten B, Callewaert B, De Paepe A, Coucke P, Willaert A.

Sci Rep. 2016 Jul 27;6:30330. doi: 10.1038/srep30330. Erratum in: Sci Rep. 2018 Oct 29;8(1):15845.

32.

Identification of long non-coding RNAs involved in neuronal development and intellectual disability.

D'haene E, Jacobs EZ, Volders PJ, De Meyer T, Menten B, Vergult S.

Sci Rep. 2016 Jun 20;6:28396. doi: 10.1038/srep28396.

33.

Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory.

Dheedene A, Sante T, De Smet M, Vanbellinghen JF, Grisart B, Vergult S, Janssens S, Menten B.

Prenat Diagn. 2016 Aug;36(8):699-707. doi: 10.1002/pd.4841. Epub 2016 Jul 1.

34.

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Szafranski P, Gambin T, Dharmadhikari AV, Akdemir KC, Jhangiani SN, Schuette J, Godiwala N, Yatsenko SA, Sebastian J, Madan-Khetarpal S, Surti U, Abellar RG, Bateman DA, Wilson AL, Markham MH, Slamon J, Santos-Simarro F, Palomares M, Nevado J, Lapunzina P, Chung BH, Wong WL, Chu YWY, Mok GTK, Kerem E, Reiter J, Ambalavanan N, Anderson SA, Kelly DR, Shieh J, Rosenthal TC, Scheible K, Steiner L, Iqbal MA, McKinnon ML, Hamilton SJ, Schlade-Bartusiak K, English D, Hendson G, Roeder ER, DeNapoli TS, Littlejohn RO, Wolff DJ, Wagner CL, Yeung A, Francis D, Fiorino EK, Edelman M, Fox J, Hayes DA, Janssens S, De Baere E, Menten B, Loccufier A, Vanwalleghem L, Moerman P, Sznajer Y, Lay AS, Kussmann JL, Chawla J, Payton DJ, Phillips GE, Brosens E, Tibboel D, de Klein A, Maystadt I, Fisher R, Sebire N, Male A, Chopra M, Pinner J, Malcolm G, Peters G, Arbuckle S, Lees M, Mead Z, Quarrell O, Sayers R, Owens M, Shaw-Smith C, Lioy J, McKay E, de Leeuw N, Feenstra I, Spruijt L, Elmslie F, Thiruchelvam T, Bacino CA, Langston C, Lupski JR, Sen P, Popek E, Stankiewicz P.

Hum Genet. 2016 May;135(5):569-586. doi: 10.1007/s00439-016-1655-9. Epub 2016 Apr 12.

35.

Zebrafish Collagen Type I: Molecular and Biochemical Characterization of the Major Structural Protein in Bone and Skin.

Gistelinck C, Gioia R, Gagliardi A, Tonelli F, Marchese L, Bianchi L, Landi C, Bini L, Huysseune A, Witten PE, Staes A, Gevaert K, De Rocker N, Menten B, Malfait F, Leikin S, Carra S, Tenni R, Rossi A, De Paepe A, Coucke P, Willaert A, Forlino A.

Sci Rep. 2016 Feb 15;6:21540. doi: 10.1038/srep21540.

36.

Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape.

Verdin H, Fernández-Miñán A, Benito-Sanz S, Janssens S, Callewaert B, De Waele K, De Schepper J, François I, Menten B, Heath KE, Gómez-Skarmeta JL, De Baere E.

Sci Rep. 2015 Dec 3;5:17667. doi: 10.1038/srep17667.

37.

Shallow whole genome sequencing is well suited for the detection of chromosomal aberrations in human blastocysts.

Deleye L, Dheedene A, De Coninck D, Sante T, Christodoulou C, Heindryckx B, Van den Abbeel E, De Sutter P, Deforce D, Menten B, Van Nieuwerburgh F.

Fertil Steril. 2015 Nov;104(5):1276-85.e1. doi: 10.1016/j.fertnstert.2015.07.1144. Epub 2015 Aug 14.

PMID:
26282994
38.

Whole genome amplification with SurePlex results in better copy number alteration detection using sequencing data compared to the MALBAC method.

Deleye L, De Coninck D, Christodoulou C, Sante T, Dheedene A, Heindryckx B, Van den Abbeel E, De Sutter P, Menten B, Deforce D, Van Nieuwerburgh F.

Sci Rep. 2015 Jun 30;5:11711. doi: 10.1038/srep11711.

39.

Alternative Routes to Induce Naïve Pluripotency in Human Embryonic Stem Cells.

Duggal G, Warrier S, Ghimire S, Broekaert D, Van der Jeught M, Lierman S, Deroo T, Peelman L, Van Soom A, Cornelissen R, Menten B, Mestdagh P, Vandesompele J, Roost M, Slieker RC, Heijmans BT, Deforce D, De Sutter P, De Sousa Lopes SC, Heindryckx B.

Stem Cells. 2015 Sep;33(9):2686-98. doi: 10.1002/stem.2071. Epub 2015 Jun 24.

40.

Phenotypic and molecular insights into CASK-related disorders in males.

Moog U, Bierhals T, Brand K, Bautsch J, Biskup S, Brune T, Denecke J, de Die-Smulders CE, Evers C, Hempel M, Henneke M, Yntema H, Menten B, Pietz J, Pfundt R, Schmidtke J, Steinemann D, Stumpel CT, Van Maldergem L, Kutsche K.

Orphanet J Rare Dis. 2015 Apr 12;10:44. doi: 10.1186/s13023-015-0256-3.

41.

Redefining the MED13L syndrome.

Adegbola A, Musante L, Callewaert B, Maciel P, Hu H, Isidor B, Picker-Minh S, Le Caignec C, Delle Chiaie B, Vanakker O, Menten B, Dheedene A, Bockaert N, Roelens F, Decaestecker K, Silva J, Soares G, Lopes F, Najmabadi H, Kahrizi K, Cox GF, Angus SP, Staropoli JF, Fischer U, Suckow V, Bartsch O, Chess A, Ropers HH, Wienker TF, Hübner C, Kaindl AM, Kalscheuer VM.

Eur J Hum Genet. 2015 Oct;23(10):1308-17. doi: 10.1038/ejhg.2015.26. Epub 2015 Mar 11.

42.

ViVar: a comprehensive platform for the analysis and visualization of structural genomic variation.

Sante T, Vergult S, Volders PJ, Kloosterman WP, Trooskens G, De Preter K, Dheedene A, Speleman F, De Meyer T, Menten B.

PLoS One. 2014 Dec 12;9(12):e113800. doi: 10.1371/journal.pone.0113800. eCollection 2014.

43.

Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development.

Baetens D, Mladenov W, Delle Chiaie B, Menten B, Desloovere A, Iotova V, Callewaert B, Van Laecke E, Hoebeke P, De Baere E, Cools M.

Orphanet J Rare Dis. 2014 Dec 14;9:209. doi: 10.1186/s13023-014-0209-2.

44.

Genomic and functional overlap between somatic and germline chromosomal rearrangements.

van Heesch S, Simonis M, van Roosmalen MJ, Pillalamarri V, Brand H, Kuijk EW, de Luca KL, Lansu N, Braat AK, Menelaou A, Hao W, Korving J, Snijder S, van der Veken LT, Hochstenbach R, Knegt AC, Duran K, Renkens I, Alekozai N, Jager M, Vergult S, Menten B, de Bruijn E, Boymans S, Ippel E, van Binsbergen E, Talkowski ME, Lichtenbelt K, Cuppen E, Kloosterman WP.

Cell Rep. 2014 Dec 24;9(6):2001-10. doi: 10.1016/j.celrep.2014.11.022. Epub 2014 Dec 11.

45.

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.

Kopajtich R, Nicholls TJ, Rorbach J, Metodiev MD, Freisinger P, Mandel H, Vanlander A, Ghezzi D, Carrozzo R, Taylor RW, Marquard K, Murayama K, Wieland T, Schwarzmayr T, Mayr JA, Pearce SF, Powell CA, Saada A, Ohtake A, Invernizzi F, Lamantea E, Sommerville EW, Pyle A, Chinnery PF, Crushell E, Okazaki Y, Kohda M, Kishita Y, Tokuzawa Y, Assouline Z, Rio M, Feillet F, Mousson de Camaret B, Chretien D, Munnich A, Menten B, Sante T, Smet J, Régal L, Lorber A, Khoury A, Zeviani M, Strom TM, Meitinger T, Bertini ES, Van Coster R, Klopstock T, Rötig A, Haack TB, Minczuk M, Prokisch H.

Am J Hum Genet. 2014 Dec 4;95(6):708-20. doi: 10.1016/j.ajhg.2014.10.017. Epub 2014 Nov 26.

46.

Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2).

Vanlander AV, Menten B, Smet J, De Meirleir L, Sante T, De Paepe B, Seneca S, Pearce SF, Powell CA, Vergult S, Michotte A, De Latter E, Vantomme L, Minczuk M, Van Coster R.

Hum Mutat. 2015 Feb;36(2):222-31. doi: 10.1002/humu.22728.

PMID:
25385316
47.

In vitro human embryonic stem cell hematopoiesis mimics MYB-independent yolk sac hematopoiesis.

Vanhee S, De Mulder K, Van Caeneghem Y, Verstichel G, Van Roy N, Menten B, Velghe I, Philippé J, De Bleser D, Lambrecht BN, Taghon T, Leclercq G, Kerre T, Vandekerckhove B.

Haematologica. 2015 Feb;100(2):157-66. doi: 10.3324/haematol.2014.112144. Epub 2014 Nov 7.

48.

The H3K27me3 demethylase UTX is a gender-specific tumor suppressor in T-cell acute lymphoblastic leukemia.

Van der Meulen J, Sanghvi V, Mavrakis K, Durinck K, Fang F, Matthijssens F, Rondou P, Rosen M, Pieters T, Vandenberghe P, Delabesse E, Lammens T, De Moerloose B, Menten B, Van Roy N, Verhasselt B, Poppe B, Benoit Y, Taghon T, Melnick AM, Speleman F, Wendel HG, Van Vlierberghe P.

Blood. 2015 Jan 1;125(1):13-21. doi: 10.1182/blood-2014-05-577270. Epub 2014 Oct 15.

49.

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.

De Rocker N, Vergult S, Koolen D, Jacobs E, Hoischen A, Zeesman S, Bang B, Béna F, Bockaert N, Bongers EM, de Ravel T, Devriendt K, Giglio S, Faivre L, Joss S, Maas S, Marle N, Novara F, Nowaczyk MJ, Peeters H, Polstra A, Roelens F, Rosenberg C, Thevenon J, Tümer Z, Vanhauwaert S, Varvagiannis K, Willaert A, Willemsen M, Willems M, Zuffardi O, Coucke P, Speleman F, Eichler EE, Kleefstra T, Menten B.

Genet Med. 2015 Jun;17(6):460-6. doi: 10.1038/gim.2014.124. Epub 2014 Sep 18.

PMID:
25232846
50.

Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability.

Vergult S, Dheedene A, Meurs A, Faes F, Isidor B, Janssens S, Gautier A, Le Caignec C, Menten B.

Eur J Hum Genet. 2015 May;23(5):628-32. doi: 10.1038/ejhg.2014.141. Epub 2014 Jul 30.

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