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Items: 21

1.

Employed family-based genetic discovery combining linkage analysis and exome sequencing to identify RCL1 as a novel candidate gene for depression, with independent replication in a population-based cohort.

Amin N, de Vrij FMS, Baghdadi M, Brouwer RWW, van Rooij JGJ, Jovanova O, Uitterlinden AG, Hofman A, Janssen HLA, Murad SD, Kraaij R, Stedehouder J, van den Hout MCGN, Kros JM, van IJcken WFJ, Tiemeier H, Kushner SA, van Duijn CM.

Mol Psychiatry. 2018 May;23(5):1093. doi: 10.1038/mp.2018.6. No abstract available.

PMID:
29731510
2.

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

Pottier C, Zhou X, Perkerson RB 3rd, Baker M, Jenkins GD, Serie DJ, Ghidoni R, Benussi L, Binetti G, López de Munain A, Zulaica M, Moreno F, Le Ber I, Pasquier F, Hannequin D, Sánchez-Valle R, Antonell A, Lladó A, Parsons TM, Finch NA, Finger EC, Lippa CF, Huey ED, Neumann M, Heutink P, Synofzik M, Wilke C, Rissman RA, Slawek J, Sitek E, Johannsen P, Nielsen JE, Ren Y, van Blitterswijk M, DeJesus-Hernandez M, Christopher E, Murray ME, Bieniek KF, Evers BM, Ferrari C, Rollinson S, Richardson A, Scarpini E, Fumagalli GG, Padovani A, Hardy J, Momeni P, Ferrari R, Frangipane F, Maletta R, Anfossi M, Gallo M, Petrucelli L, Suh E, Lopez OL, Wong TH, van Rooij JGJ, Seelaar H, Mead S, Caselli RJ, Reiman EM, Noel Sabbagh M, Kjolby M, Nykjaer A, Karydas AM, Boxer AL, Grinberg LT, Grafman J, Spina S, Oblak A, Mesulam MM, Weintraub S, Geula C, Hodges JR, Piguet O, Brooks WS, Irwin DJ, Trojanowski JQ, Lee EB, Josephs KA, Parisi JE, Ertekin-Taner N, Knopman DS, Nacmias B, Piaceri I, Bagnoli S, Sorbi S, Gearing M, Glass J, Beach TG, Black SE, Masellis M, Rogaeva E, Vonsattel JP, Honig LS, Kofler J, Bruni AC, Snowden J, Mann D, Pickering-Brown S, Diehl-Schmid J, Winkelmann J, Galimberti D, Graff C, Öijerstedt L, Troakes C, Al-Sarraj S, Cruchaga C, Cairns NJ, Rohrer JD, Halliday GM, Kwok JB, van Swieten JC, White CL 3rd, Ghetti B, Murell JR, Mackenzie IRA, Hsiung GR, Borroni B, Rossi G, Tagliavini F, Wszolek ZK, Petersen RC, Bigio EH, Grossman M, Van Deerlin VM, Seeley WW, Miller BL, Graff-Radford NR, Boeve BF, Dickson DW, Biernacka JM, Rademakers R.

Lancet Neurol. 2018 Jun;17(6):548-558. doi: 10.1016/S1474-4422(18)30126-1. Epub 2018 Apr 30.

PMID:
29724592
3.

Whole-Exome Sequencing in Age-Related Macular Degeneration Identifies Rare Variants in COL8A1, a Component of Bruch's Membrane.

Corominas J, Colijn JM, Geerlings MJ, Pauper M, Bakker B, Amin N, Lores Motta L, Kersten E, Garanto A, Verlouw JAM, van Rooij JGJ, Kraaij R, de Jong PTVM, Hofman A, Vingerling JR, Schick T, Fauser S, de Jong EK, van Duijn CM, Hoyng CB, Klaver CCW, den Hollander AI.

Ophthalmology. 2018 Sep;125(9):1433-1443. doi: 10.1016/j.ophtha.2018.03.040. Epub 2018 Apr 26.

4.

A systematic analysis highlights multiple long non-coding RNAs associated with cardiometabolic disorders.

Ghanbari M, Peters MJ, de Vries PS, Boer CG, van Rooij JGJ, Lee YC, Kumar V, Uitterlinden AG, Ikram MA, Wijmenga C, Ordovas JM, Smith CE, van Meurs JBJ, Erkeland SJ, Franco OH, Dehghan A.

J Hum Genet. 2018 Apr;63(4):431-446. doi: 10.1038/s10038-017-0403-x. Epub 2018 Jan 30.

PMID:
29382920
5.

Exome-Wide Meta-Analysis Identifies Rare 3'-UTR Variant in ERCC1/CD3EAP Associated with Symptoms of Sleep Apnea.

van der Spek A, Luik AI, Kocevska D, Liu C, Brouwer RWW, van Rooij JGJ, van den Hout MCGN, Kraaij R, Hofman A, Uitterlinden AG, van IJcken WFJ, Gottlieb DJ, Tiemeier H, van Duijn CM, Amin N.

Front Genet. 2017 Oct 18;8:151. doi: 10.3389/fgene.2017.00151. eCollection 2017.

6.

Population-specific genetic variation in large sequencing data sets: why more data is still better.

van Rooij JGJ, Jhamai M, Arp PP, Nouwens SCA, Verkerk M, Hofman A, Ikram MA, Verkerk AJ, van Meurs JBJ, Rivadeneira F, Uitterlinden AG, Kraaij R.

Eur J Hum Genet. 2017 Oct;25(10):1173-1175. doi: 10.1038/ejhg.2017.110. Epub 2017 Jul 19.

PMID:
28905877
7.

Characterization of pathogenic SORL1 genetic variants for association with Alzheimer's disease: a clinical interpretation strategy.

Holstege H, van der Lee SJ, Hulsman M, Wong TH, van Rooij JG, Weiss M, Louwersheimer E, Wolters FJ, Amin N, Uitterlinden AG, Hofman A, Ikram MA, van Swieten JC, Meijers-Heijboer H, van der Flier WM, Reinders MJ, van Duijn CM, Scheltens P.

Eur J Hum Genet. 2017 Aug;25(8):973-981. doi: 10.1038/ejhg.2017.87. Epub 2017 May 24.

8.

A rare missense variant in RCL1 segregates with depression in extended families.

Amin N, de Vrij FMS, Baghdadi M, Brouwer RWW, van Rooij JGJ, Jovanova O, Uitterlinden AG, Hofman A, Janssen HLA, Darwish Murad S, Kraaij R, Stedehouder J, van den Hout MCGN, Kros JM, van IJcken WFJ, Tiemeier H, Kushner SA, van Duijn CM.

Mol Psychiatry. 2018 May;23(5):1120-1126. doi: 10.1038/mp.2017.49. Epub 2017 Mar 21.

9.

Nonsynonymous Variation in NKPD1 Increases Depressive Symptoms in European Populations.

Amin N, Belonogova NM, Jovanova O, Brouwer RW, van Rooij JG, van den Hout MC, Svishcheva GR, Kraaij R, Zorkoltseva IV, Kirichenko AV, Hofman A, Uitterlinden AG, van IJcken WF, Tiemeier H, Axenovich TI, van Duijn CM.

Biol Psychiatry. 2017 Apr 15;81(8):702-707. doi: 10.1016/j.biopsych.2016.08.008. Epub 2016 Aug 11.

PMID:
27745872
10.

Exome-sequencing in a large population-based study reveals a rare Asn396Ser variant in the LIPG gene associated with depressive symptoms.

Amin N, Jovanova O, Adams HH, Dehghan A, Kavousi M, Vernooij MW, Peeters RP, de Vrij FM, van der Lee SJ, van Rooij JG, van Leeuwen EM, Chaker L, Demirkan A, Hofman A, Brouwer RW, Kraaij R, Willems van Dijk K, Hankemeier T, van Ijcken WF, Uitterlinden AG, Niessen WJ, Franco OH, Kushner SA, Ikram MA, Tiemeier H, van Duijn CM.

Mol Psychiatry. 2017 Apr;22(4):634. doi: 10.1038/mp.2016.141. Epub 2016 Aug 9. No abstract available.

PMID:
27502476
11.

Exome-sequencing in a large population-based study reveals a rare Asn396Ser variant in the LIPG gene associated with depressive symptoms.

Amin N, Jovanova O, Adams HH, Dehghan A, Kavousi M, Vernooij MW, Peeters RP, de Vrij FM, van der Lee SJ, van Rooij JG, van Leeuwen EM, Chaker L, Demirkan A, Hofman A, Brouwer RW, Kraaij R, Willems van Dijk K, Hankemeier T, van Ijcken WF, Uitterlinden AG, Niessen WJ, Franco OH, Kushner SA, Ikram MA, Tiemeier H, van Duijn CM.

Mol Psychiatry. 2017 Apr;22(4):537-543. doi: 10.1038/mp.2016.101. Epub 2016 Jul 19. Erratum in: Mol Psychiatry. 2017 Apr;22(4):634.

PMID:
27431295
12.

Quantifying prion disease penetrance using large population control cohorts.

Minikel EV, Vallabh SM, Lek M, Estrada K, Samocha KE, Sathirapongsasuti JF, McLean CY, Tung JY, Yu LP, Gambetti P, Blevins J, Zhang S, Cohen Y, Chen W, Yamada M, Hamaguchi T, Sanjo N, Mizusawa H, Nakamura Y, Kitamoto T, Collins SJ, Boyd A, Will RG, Knight R, Ponto C, Zerr I, Kraus TF, Eigenbrod S, Giese A, Calero M, de Pedro-Cuesta J, Haïk S, Laplanche JL, Bouaziz-Amar E, Brandel JP, Capellari S, Parchi P, Poleggi A, Ladogana A, O'Donnell-Luria AH, Karczewski KJ, Marshall JL, Boehnke M, Laakso M, Mohlke KL, Kähler A, Chambert K, McCarroll S, Sullivan PF, Hultman CM, Purcell SM, Sklar P, van der Lee SJ, Rozemuller A, Jansen C, Hofman A, Kraaij R, van Rooij JG, Ikram MA, Uitterlinden AG, van Duijn CM; Exome Aggregation Consortium (ExAC), Daly MJ, MacArthur DG.

Sci Transl Med. 2016 Jan 20;8(322):322ra9. doi: 10.1126/scitranslmed.aad5169.

13.

PLD3 variants in population studies.

van der Lee SJ, Holstege H, Wong TH, Jakobsdottir J, Bis JC, Chouraki V, van Rooij JG, Grove ML, Smith AV, Amin N, Choi SH, Beiser AS, Garcia ME, van IJcken WF, Pijnenburg YA, Louwersheimer E, Brouwer RW, van den Hout MC, Oole E, Eirkisdottir G, Levy D, Rotter JI, Emilsson V, O'Donnell CJ, Aspelund T, Uitterlinden AG, Launer LJ, Hofman A, Boerwinkle E, Psaty BM, DeStefano AL, Scheltens P, Seshadri S, van Swieten JC, Gudnason V, van der Flier WM, Ikram MA, van Duijn CM.

Nature. 2015 Apr 2;520(7545):E2-3. doi: 10.1038/nature14038. No abstract available.

14.

Uncertainty and variability in the exposure reconstruction of chemical incidents--the case of acrylonitrile.

Huizer D, Ragas AM, Oldenkamp R, van Rooij JG, Huijbregts MA.

Toxicol Lett. 2014 Dec 15;231(3):337-43. doi: 10.1016/j.toxlet.2014.07.019. Epub 2014 Jul 19.

PMID:
25050995
15.

Testing the coherence between occupational exposure limits for inhalation and their biological limit values with a generalized PBPK-model: the case of 2-propanol and acetone.

Huizer D, Huijbregts MA, van Rooij JG, Ragas AM.

Regul Toxicol Pharmacol. 2014 Aug;69(3):408-15. doi: 10.1016/j.yrtph.2014.05.004. Epub 2014 May 20.

PMID:
24852492
16.

Separating uncertainty and physiological variability in human PBPK modelling: The example of 2-propanol and its metabolite acetone.

Huizer D, Oldenkamp R, Ragas AM, van Rooij JG, Huijbregts MA.

Toxicol Lett. 2012 Oct 17;214(2):154-65. doi: 10.1016/j.toxlet.2012.08.016. Epub 2012 Aug 27.

PMID:
22955064
17.

Hydroxypyrene in urine of football players after playing on artificial sports field with tire crumb infill.

van Rooij JG, Jongeneelen FJ.

Int Arch Occup Environ Health. 2010 Jan;83(1):105-10. doi: 10.1007/s00420-009-0465-y. Epub 2009 Sep 25.

PMID:
19779733
18.

Trends in occupational exposure to styrene in the European glass fibre-reinforced plastics industry.

Van Rooij JG, Kasper A, Triebig G, Werner P, Jongeneelen FJ, Kromhout H.

Ann Occup Hyg. 2008 Jul;52(5):337-49. doi: 10.1093/annhyg/men020. Epub 2008 Jun 11.

19.

Polycyclic aromatic hydrocarbon-DNA adducts in white blood cell DNA and 1-hydroxypyrene in the urine from aluminum workers: relation with job category and synergistic effect of smoking.

van Schooten FJ, Jongeneelen FJ, Hillebrand MJ, van Leeuwen FE, de Looff AJ, Dijkmans AP, van Rooij JG, den Engelse L, Kriek E.

Cancer Epidemiol Biomarkers Prev. 1995 Jan-Feb;4(1):69-77.

20.

Smoking and dietary intake of polycyclic aromatic hydrocarbons as sources of interindividual variability in the baseline excretion of 1-hydroxypyrene in urine.

Van Rooij JG, Veeger MM, Bodelier-Bade MM, Scheepers PT, Jongeneelen FJ.

Int Arch Occup Environ Health. 1994;66(1):55-65.

PMID:
7927844
21.

Effect of the reduction of skin contamination on the internal dose of creosote workers exposed to polycyclic aromatic hydrocarbons.

Van Rooij JG, Van Lieshout EM, Bodelier-Bade MM, Jongeneelen FJ.

Scand J Work Environ Health. 1993 Jun;19(3):200-7.

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