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Items: 1 to 50 of 56

1.

Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders.

Tessadori F, Roessler HI, Savelberg SMC, Chocron S, Kamel SM, Duran KJ, van Haelst MM, van Haaften G, Bakkers J.

Dis Model Mech. 2018 Oct 18;11(10). pii: dmm035469. doi: 10.1242/dmm.035469.

2.

A Single Complex Agpat2 Allele in a Patient With Partial Lipodystrophy.

Broekema MF, Massink MPG, De Ligt J, Stigter ECA, Monajemi H, De Ridder J, Burgering BMT, van Haaften GW, Kalkhoven E.

Front Physiol. 2018 Sep 26;9:1363. doi: 10.3389/fphys.2018.01363. eCollection 2018.

3.

Genetic obesity: next-generation sequencing results of 1230 patients with obesity.

Kleinendorst L, Massink MPG, Cooiman MI, Savas M, van der Baan-Slootweg OH, Roelants RJ, Janssen ICM, Meijers-Heijboer HJ, Knoers NVAM, Ploos van Amstel HK, van Rossum EFC, van den Akker ELT, van Haaften G, van der Zwaag B, van Haelst MM.

J Med Genet. 2018 Sep;55(9):578-586. doi: 10.1136/jmedgenet-2018-105315. Epub 2018 Jul 3.

PMID:
29970488
4.

The ontogeny of Robin sequence.

Logjes RJH, Breugem CC, Van Haaften G, Paes EC, Sperber GH, van den Boogaard MH, Farlie PG.

Am J Med Genet A. 2018 Jun;176(6):1349-1368. doi: 10.1002/ajmg.a.38718. Epub 2018 Apr 25.

PMID:
29696787
5.

Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency.

van Rijn JM, Ardy RC, Kuloğlu Z, Härter B, van Haaften-Visser DY, van der Doef HPJ, van Hoesel M, Kansu A, van Vugt AHM, Thian M, Kokke FTM, Krolo A, Başaran MK, Kaya NG, Aksu AÜ, Dalgıç B, Ozcay F, Baris Z, Kain R, Stigter ECA, Lichtenbelt KD, Massink MPG, Duran KJ, Verheij JBGM, Lugtenberg D, Nikkels PGJ, Brouwer HGF, Verkade HJ, Scheenstra R, Spee B, Nieuwenhuis EES, Coffer PJ, Janecke AR, van Haaften G, Houwen RHJ, Müller T, Middendorp S, Boztug K.

Gastroenterology. 2018 Jul;155(1):130-143.e15. doi: 10.1053/j.gastro.2018.03.040. Epub 2018 Mar 29.

6.

Cantú syndrome, the changing phenotype: a report of the two oldest Dutch patients.

Roessler HI, Volker-Touw CML, Terhal PA, van Haaften G, van Haelst MM.

Clin Dysmorphol. 2018 Jul;27(3):78-83. doi: 10.1097/MCD.0000000000000219. No abstract available.

PMID:
29595750
7.

Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.

Kievit A, Tessadori F, Douben H, Jordens I, Maurice M, Hoogeboom J, Hennekam R, Nampoothiri S, Kayserili H, Castori M, Whiteford M, Motter C, Melver C, Cunningham M, Hing A, Kokitsu-Nakata NM, Vendramini-Pittoli S, Richieri-Costa A, Baas AF, Breugem CC, Duran K, Massink M, Derksen PWB, van IJcken WFJ, van Unen L, Santos-Simarro F, Lapunzina P, Gil-da Silva Lopes VL, Lustosa-Mendes E, Krall M, Slavotinek A, Martinez-Glez V, Bakkers J, van Gassen KLI, de Klein A, van den Boogaard MH, van Haaften G.

Eur J Hum Genet. 2018 Feb;26(2):210-219. doi: 10.1038/s41431-017-0010-5. Epub 2018 Jan 18.

PMID:
29348693
8.

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.

Gueneau L, Fish RJ, Shamseldin HE, Voisin N, Tran Mau-Them F, Preiksaitiene E, Monroe GR, Lai A, Putoux A, Allias F, Ambusaidi Q, Ambrozaityte L, Cimbalistienė L, Delafontaine J, Guex N, Hashem M, Kurdi W, Jamuar SS, Ying LJ, Bonnard C, Pippucci T, Pradervand S, Roechert B, van Hasselt PM, Wiederkehr M, Wright CF; DDD Study, Xenarios I, van Haaften G, Shaw-Smith C, Schindewolf EM, Neerman-Arbez M, Sanlaville D, Lesca G, Guibaud L, Reversade B, Chelly J, Kučinskas V, Alkuraya FS, Reymond A.

Am J Hum Genet. 2018 Jan 4;102(1):116-132. doi: 10.1016/j.ajhg.2017.12.002. Epub 2017 Dec 28.

9.

Cantu syndrome-associated SUR2 (ABCC9) mutations in distinct structural domains result in KATP channel gain-of-function by differential mechanisms.

McClenaghan C, Hanson A, Sala-Rabanal M, Roessler HI, Josifova D, Grange DK, van Haaften G, Nichols CG.

J Biol Chem. 2018 Feb 9;293(6):2041-2052. doi: 10.1074/jbc.RA117.000351. Epub 2017 Dec 22.

PMID:
29275331
10.

Further delineation of the GDF6 related multiple synostoses syndrome.

Terhal PA, Verbeek NE, Knoers N, Nievelstein RJAJ, van den Ouweland A, Sakkers RJ, Speleman L, van Haaften G.

Am J Med Genet A. 2018 Jan;176(1):225-229. doi: 10.1002/ajmg.a.38503. Epub 2017 Nov 12.

PMID:
29130651
11.

Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control.

Tessadori F, Giltay JC, Hurst JA, Massink MP, Duran K, Vos HR, van Es RM; Deciphering Developmental Disorders Study, Scott RH, van Gassen KLI, Bakkers J, van Haaften G.

Nat Genet. 2017 Nov;49(11):1642-1646. doi: 10.1038/ng.3956. Epub 2017 Sep 18.

PMID:
28920961
12.

PA-6 inhibits inward rectifier currents carried by V93I and D172N gain-of-function KIR2.1 channels, but increases channel protein expression.

Ji Y, Veldhuis MG, Zandvoort J, Romunde FL, Houtman MJC, Duran K, van Haaften G, Zangerl-Plessl EM, Takanari H, Stary-Weinzinger A, van der Heyden MAG.

J Biomed Sci. 2017 Jul 15;24(1):44. doi: 10.1186/s12929-017-0352-x.

13.

[Genetic obesity: new diagnostic options].

de Vries TI, Alsters SI, Kleinendorst L, van Haaften G, van der Zwaag B, Van Haelst MM.

Ned Tijdschr Geneeskd. 2017;161:D688. Dutch.

PMID:
28351432
14.

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

Depienne C, Nava C, Keren B, Heide S, Rastetter A, Passemard S, Chantot-Bastaraud S, Moutard ML, Agrawal PB, VanNoy G, Stoler JM, Amor DJ, Billette de Villemeur T, Doummar D, Alby C, Cormier-Daire V, Garel C, Marzin P, Scheidecker S, de Saint-Martin A, Hirsch E, Korff C, Bottani A, Faivre L, Verloes A, Orzechowski C, Burglen L, Leheup B, Roume J, Andrieux J, Sheth F, Datar C, Parker MJ, Pasquier L, Odent S, Naudion S, Delrue MA, Le Caignec C, Vincent M, Isidor B, Renaldo F, Stewart F, Toutain A, Koehler U, Häckl B, von Stülpnagel C, Kluger G, Møller RS, Pal D, Jonson T, Soller M, Verbeek NE, van Haelst MM, de Kovel C, Koeleman B, Monroe G, van Haaften G; DDD Study, Attié-Bitach T, Boutaud L, Héron D, Mignot C.

Hum Genet. 2017 Apr;136(4):463-479. doi: 10.1007/s00439-017-1772-0. Epub 2017 Mar 10.

15.

Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder.

Lipstein N, Verhoeven-Duif NM, Michelassi FE, Calloway N, van Hasselt PM, Pienkowska K, van Haaften G, van Haelst MM, van Empelen R, Cuppen I, van Teeseling HC, Evelein AM, Vorstman JA, Thoms S, Jahn O, Duran KJ, Monroe GR, Ryan TA, Taschenberger H, Dittman JS, Rhee JS, Visser G, Jans JJ, Brose N.

J Clin Invest. 2017 Mar 1;127(3):1005-1018. doi: 10.1172/JCI90259. Epub 2017 Feb 13.

16.

Clinical utility gene card for: Cantú syndrome.

Kirk EP, Scurr I, van Haaften G, van Haelst MM, Nichols CG, Williams M, Smithson SF, Grange DK.

Eur J Hum Genet. 2017 Apr;25(4). doi: 10.1038/ejhg.2016.185. Epub 2017 Jan 4. No abstract available.

17.

Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.

Josifova DJ, Monroe GR, Tessadori F, de Graaff E, van der Zwaag B, Mehta SG; DDD Study, Harakalova M, Duran KJ, Savelberg SM, Nijman IJ, Jungbluth H, Hoogenraad CC, Bakkers J, Knoers NV, Firth HV, Beales PL, van Haaften G, van Haelst MM.

Hum Mol Genet. 2016 Jun 1;25(11):2158-2167. Epub 2016 Mar 22.

PMID:
27005418
18.

De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.

Weiss K, Terhal PA, Cohen L, Bruccoleri M, Irving M, Martinez AF, Rosenfeld JA, Machol K, Yang Y, Liu P, Walkiewicz M, Beuten J, Gomez-Ospina N, Haude K, Fong CT, Enns GM, Bernstein JA, Fan J, Gotway G, Ghorbani M; DDD Study, van Gassen K, Monroe GR, van Haaften G, Basel-Vanagaite L, Yang XJ, Campeau PM, Muenke M.

Am J Hum Genet. 2016 Oct 6;99(4):934-941. doi: 10.1016/j.ajhg.2016.08.001. Epub 2016 Sep 8.

19.

Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome).

Monroe GR, Kappen IF, Stokman MF, Terhal PA, van den Boogaard MH, Savelberg SM, van der Veken LT, van Es RJ, Lens SM, Hengeveld RC, Creton MA, Janssen NG, Mink van der Molen AB, Ebbeling MB, Giles RH, Knoers NV, van Haaften G.

Eur J Hum Genet. 2016 Dec;24(12):1752-1760. doi: 10.1038/ejhg.2016.103. Epub 2016 Aug 17.

20.

Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease.

van der Crabben SN, Hennus MP, McGregor GA, Ritter DI, Nagamani SC, Wells OS, Harakalova M, Chinn IK, Alt A, Vondrova L, Hochstenbach R, van Montfrans JM, Terheggen-Lagro SW, van Lieshout S, van Roosmalen MJ, Renkens I, Duran K, Nijman IJ, Kloosterman WP, Hennekam E, Orange JS, van Hasselt PM, Wheeler DA, Palecek JJ, Lehmann AR, Oliver AW, Pearl LH, Plon SE, Murray JM, van Haaften G.

J Clin Invest. 2016 Aug 1;126(8):2881-92. doi: 10.1172/JCI82890. Epub 2016 Jul 18.

21.

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.

de Vries TI, Monroe GR, van Belzen MJ, van der Lans CA, Savelberg SM, Newman WG, van Haaften G, Nievelstein RA, van Haelst MM.

Eur J Hum Genet. 2016 Aug;24(9):1363-6. doi: 10.1038/ejhg.2016.14. Epub 2016 Mar 9.

22.

Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations.

Van Montfrans JM, Hartman EA, Braun KP, Hennekam EA, Hak EA, Nederkoorn PJ, Westendorp WF, Bredius RG, Kollen WJ, Schölvinck EH, Legger GE, Meyts I, Liston A, Lichtenbelt KD, Giltay JC, Van Haaften G, De Vries Simons GM, Leavis H, Sanders CJ, Bierings MB, Nierkens S, Van Gijn ME.

Rheumatology (Oxford). 2016 May;55(5):902-10. doi: 10.1093/rheumatology/kev439. Epub 2016 Feb 10.

PMID:
26867732
23.

Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability.

Monroe GR, Frederix GW, Savelberg SM, de Vries TI, Duran KJ, van der Smagt JJ, Terhal PA, van Hasselt PM, Kroes HY, Verhoeven-Duif NM, Nijman IJ, Carbo EC, van Gassen KL, Knoers NV, Hövels AM, van Haelst MM, Visser G, van Haaften G.

Genet Med. 2016 Sep;18(9):949-56. doi: 10.1038/gim.2015.200. Epub 2016 Feb 4.

PMID:
26845106
24.

MKS1 regulates ciliary INPP5E levels in Joubert syndrome.

Slaats GG, Isabella CR, Kroes HY, Dempsey JC, Gremmels H, Monroe GR, Phelps IG, Duran KJ, Adkins J, Kumar SA, Knutzen DM, Knoers NV, Mendelsohn NJ, Neubauer D, Mastroyianni SD, Vogt J, Worgan L, Karp N, Bowdin S, Glass IA, Parisi MA, Otto EA, Johnson CA, Hildebrandt F, van Haaften G, Giles RH, Doherty D.

J Med Genet. 2016 Jan;53(1):62-72. doi: 10.1136/jmedgenet-2015-103250. Epub 2015 Oct 21.

25.

Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia.

Massink MP, Créton MA, Spanevello F, Fennis WM, Cune MS, Savelberg SM, Nijman IJ, Maurice MM, van den Boogaard MJ, van Haaften G.

Am J Hum Genet. 2015 Oct 1;97(4):621-6. doi: 10.1016/j.ajhg.2015.08.014. Epub 2015 Sep 17.

26.

Further delineation of the KBG syndrome caused by ANKRD11 aberrations.

Ockeloen CW, Willemsen MH, de Munnik S, van Bon BW, de Leeuw N, Verrips A, Kant SG, Jones EA, Brunner HG, van Loon RL, Smeets EE, van Haelst MM, van Haaften G, Nordgren A, Malmgren H, Grigelioniene G, Vermeer S, Louro P, Ramos L, Maal TJ, van Heumen CC, Yntema HG, Carels CE, Kleefstra T.

Eur J Hum Genet. 2015 Sep;23(9):1270. doi: 10.1038/ejhg.2015.130. No abstract available.

27.

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.

Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, Huang H, Valkanas E, Pusey B, Schanze D, Venselaar H, Vulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, Zambruno G, Kariminejad A, Sabbagh-Kermani F, Lee J, Tsokos MG, Lee CC, Ferraz V, da Silva EM, Stevens CA, Roche N, Bartsch O, Farndon P, Bermejo-Sanchez E, Brooks BP, Maduro V, Dallapiccola B, Ramos FJ, Chung HY, Le Caignec C, Martins F, Jacyk WK, Mazzanti L, Brunner HG, Bakkers J, Lin S, Malicdan MC, Boerkoel CF, Gahl WA, de Vries BB, van Haelst MM, Zenker M, Markello TC.

Am J Hum Genet. 2015 Jul 2;97(1):99-110. doi: 10.1016/j.ajhg.2015.05.017. Epub 2015 Jun 25.

28.

Joubert syndrome: genotyping a Northern European patient cohort.

Kroes HY, Monroe GR, van der Zwaag B, Duran KJ, de Kovel CG, van Roosmalen MJ, Harakalova M, Nijman IJ, Kloosterman WP, Giles RH, Knoers NV, van Haaften G.

Eur J Hum Genet. 2016 Feb;24(2):214-20. doi: 10.1038/ejhg.2015.84. Epub 2015 Apr 29.

29.

Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.

Monroe GR, Harakalova M, van der Crabben SN, Majoor-Krakauer D, Bertoli-Avella AM, Moll FL, Oranen BI, Dooijes D, Vink A, Knoers NV, Maugeri A, Pals G, Nijman IJ, van Haaften G, Baas AF.

Am J Med Genet A. 2015 Jun;167(6):1196-203. doi: 10.1002/ajmg.a.36997. Epub 2015 Apr 2.

PMID:
25845371
30.

Monocarboxylate transporter 1 deficiency and ketone utilization.

van Hasselt PM, Ferdinandusse S, van Haaften G.

N Engl J Med. 2015 Feb 5;372(6):578-9. doi: 10.1056/NEJMc1415111. No abstract available.

PMID:
25651259
31.

Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome.

McKie AB, Alsaedi A, Vogt J, Stuurman KE, Weiss MM, Shakeel H, Tee L, Morgan NV, Nikkels PG, van Haaften G, Park SM, van der Smagt JJ, Bugiani M, Maher ER.

Acta Neuropathol Commun. 2014 Dec 5;2:148. doi: 10.1186/s40478-014-0148-0.

32.

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.

Ockeloen CW, Willemsen MH, de Munnik S, van Bon BW, de Leeuw N, Verrips A, Kant SG, Jones EA, Brunner HG, van Loon RL, Smeets EE, van Haelst MM, van Haaften G, Nordgren A, Malmgren H, Grigelioniene G, Vermeer S, Louro P, Ramos L, Maal TJ, van Heumen CC, Yntema HG, Carels CE, Kleefstra T.

Eur J Hum Genet. 2015 Sep;23(9):1176-85. doi: 10.1038/ejhg.2014.253. Epub 2014 Nov 26. Erratum in: Eur J Hum Genet. 2015 Sep;23(9):1270.

33.

Monocarboxylate transporter 1 deficiency and ketone utilization.

van Hasselt PM, Ferdinandusse S, Monroe GR, Ruiter JP, Turkenburg M, Geerlings MJ, Duran K, Harakalova M, van der Zwaag B, Monavari AA, Okur I, Sharrard MJ, Cleary M, O'Connell N, Walker V, Rubio-Gozalbo ME, de Vries MC, Visser G, Houwen RH, van der Smagt JJ, Verhoeven-Duif NM, Wanders RJ, van Haaften G.

N Engl J Med. 2014 Nov 13;371(20):1900-7. doi: 10.1056/NEJMoa1407778.

PMID:
25390740
34.

Whole Exome Sequencing as a Diagnostic Tool for Complex Neurological Disorders.

Frederix GW, Monroe G, Hövels AM, van Haaften G.

Value Health. 2014 Nov;17(7):A396. doi: 10.1016/j.jval.2014.08.886. Epub 2014 Oct 26. No abstract available.

35.

Further confirmation of the MED13L haploinsufficiency syndrome.

van Haelst MM, Monroe GR, Duran K, van Binsbergen E, Breur JM, Giltay JC, van Haaften G.

Eur J Hum Genet. 2015 Jan;23(1):135-8. doi: 10.1038/ejhg.2014.69. Epub 2014 Apr 30.

36.

Loss of syntaxin 3 causes variant microvillus inclusion disease.

Wiegerinck CL, Janecke AR, Schneeberger K, Vogel GF, van Haaften-Visser DY, Escher JC, Adam R, Thöni CE, Pfaller K, Jordan AJ, Weis CA, Nijman IJ, Monroe GR, van Hasselt PM, Cutz E, Klumperman J, Clevers H, Nieuwenhuis EE, Houwen RH, van Haaften G, Hess MW, Huber LA, Stapelbroek JM, Müller T, Middendorp S.

Gastroenterology. 2014 Jul;147(1):65-68.e10. doi: 10.1053/j.gastro.2014.04.002. Epub 2014 Apr 12.

PMID:
24726755
37.

Cantú syndrome resulting from activating mutation in the KCNJ8 gene.

Cooper PE, Reutter H, Woelfle J, Engels H, Grange DK, van Haaften G, van Bon BW, Hoischen A, Nichols CG.

Hum Mutat. 2014 Jul;35(7):809-13. doi: 10.1002/humu.22555. Epub 2014 May 6.

38.

Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.

van der Crabben SN, Harakalova M, Brilstra EH, van Berkestijn FM, Hofstede FC, van Vught AJ, Cuppen E, Kloosterman W, Ploos van Amstel HK, van Haaften G, van Haelst MM.

Am J Med Genet A. 2014 Jan;164A(1):29-35. doi: 10.1002/ajmg.a.36184. Epub 2013 Nov 20. Review.

PMID:
24259184
39.

A versatile microsatellite instability reporter system in human cells.

Koole W, Schäfer HS, Agami R, van Haaften G, Tijsterman M.

Nucleic Acids Res. 2013 Sep;41(16):e158. doi: 10.1093/nar/gkt615. Epub 2013 Jul 16.

40.

Rapid prenatal testing using semiconductor sequencing?

van Haaften G.

Clin Chem. 2013 May;59(5):735-6. doi: 10.1373/clinchem.2013.203299. Epub 2013 Mar 7. No abstract available.

41.

X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face.

Harakalova M, van den Boogaard MJ, Sinke R, van Lieshout S, van Tuil MC, Duran K, Renkens I, Terhal PA, de Kovel C, Nijman IJ, van Haelst M, Knoers NV, van Haaften G, Kloosterman W, Hennekam RC, Cuppen E, Ploos van Amstel HK.

J Med Genet. 2012 Aug;49(8):539-43. doi: 10.1136/jmedgenet-2012-100921.

PMID:
22889856
42.

E2F mediates enhanced alternative polyadenylation in proliferation.

Elkon R, Drost J, van Haaften G, Jenal M, Schrier M, Oude Vrielink JA, Agami R.

Genome Biol. 2012 Jul 2;13(7):R59. doi: 10.1186/gb-2012-13-7-r59.

43.

Dominant missense mutations in ABCC9 cause Cantú syndrome.

Harakalova M, van Harssel JJ, Terhal PA, van Lieshout S, Duran K, Renkens I, Amor DJ, Wilson LC, Kirk EP, Turner CL, Shears D, Garcia-Minaur S, Lees MM, Ross A, Venselaar H, Vriend G, Takanari H, Rook MB, van der Heyden MA, Asselbergs FW, Breur HM, Swinkels ME, Scurr IJ, Smithson SF, Knoers NV, van der Smagt JJ, Nijman IJ, Kloosterman WP, van Haelst MM, van Haaften G, Cuppen E.

Nat Genet. 2012 May 18;44(7):793-6. doi: 10.1038/ng.2324.

PMID:
22610116
44.

Application of exome sequencing in the search for genetic causes of rare disorders of copper metabolism.

Fuchs SA, Harakalova M, van Haaften G, van Hasselt PM, Cuppen E, Houwen RH.

Metallomics. 2012 Jul;4(7):606-13. doi: 10.1039/c2mt20034a. Epub 2012 May 4. Review.

PMID:
22555275
45.

Effect of vertical sleeve gastrectomy in melanocortin receptor 4-deficient rats.

Mul JD, Begg DP, Alsters SI, van Haaften G, Duran KJ, D'Alessio DA, le Roux CW, Woods SC, Sandoval DA, Blakemore AI, Cuppen E, van Haelst MM, Seeley RJ.

Am J Physiol Endocrinol Metab. 2012 Jul 1;303(1):E103-10. doi: 10.1152/ajpendo.00159.2012. Epub 2012 Apr 24.

46.

The poly(A)-binding protein nuclear 1 suppresses alternative cleavage and polyadenylation sites.

Jenal M, Elkon R, Loayza-Puch F, van Haaften G, Kühn U, Menzies FM, Oude Vrielink JA, Bos AJ, Drost J, Rooijers K, Rubinsztein DC, Agami R.

Cell. 2012 Apr 27;149(3):538-53. doi: 10.1016/j.cell.2012.03.022. Epub 2012 Apr 12.

47.

Tumorigenicity of the miR-17-92 cluster distilled.

van Haaften G, Agami R.

Genes Dev. 2010 Jan 1;24(1):1-4. doi: 10.1101/gad.1887110.

48.

Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer.

van Haaften G, Dalgliesh GL, Davies H, Chen L, Bignell G, Greenman C, Edkins S, Hardy C, O'Meara S, Teague J, Butler A, Hinton J, Latimer C, Andrews J, Barthorpe S, Beare D, Buck G, Campbell PJ, Cole J, Forbes S, Jia M, Jones D, Kok CY, Leroy C, Lin ML, McBride DJ, Maddison M, Maquire S, McLay K, Menzies A, Mironenko T, Mulderrig L, Mudie L, Pleasance E, Shepherd R, Smith R, Stebbings L, Stephens P, Tang G, Tarpey PS, Turner R, Turrell K, Varian J, West S, Widaa S, Wray P, Collins VP, Ichimura K, Law S, Wong J, Yuen ST, Leung SY, Tonon G, DePinho RA, Tai YT, Anderson KC, Kahnoski RJ, Massie A, Khoo SK, Teh BT, Stratton MR, Futreal PA.

Nat Genet. 2009 May;41(5):521-3. doi: 10.1038/ng.349. Epub 2009 Mar 29.

49.

RAP-1 and the RAL-1/exocyst pathway coordinate hypodermal cell organization in Caenorhabditis elegans.

Frische EW, Pellis-van Berkel W, van Haaften G, Cuppen E, Plasterk RH, Tijsterman M, Bos JL, Zwartkruis FJ.

EMBO J. 2007 Dec 12;26(24):5083-92. Epub 2007 Nov 8.

50.

The TWIST1 oncogene is a direct target of hypoxia-inducible factor-2alpha.

Gort EH, van Haaften G, Verlaan I, Groot AJ, Plasterk RH, Shvarts A, Suijkerbuijk KP, van Laar T, van der Wall E, Raman V, van Diest PJ, Tijsterman M, Vooijs M.

Oncogene. 2008 Mar 6;27(11):1501-10. Epub 2007 Sep 17.

PMID:
17873906

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