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Items: 1 to 50 of 437

1.

Meeting report: The Human Genome Meeting (HGM) 2019 in Seoul, Korea.

Solano A, Novelli G, Baghat S, Carnici P, van Ommen GJ, Reichardt JKV.

Eur J Hum Genet. 2019 Aug 1. doi: 10.1038/s41431-019-0461-y. [Epub ahead of print] No abstract available.

PMID:
31371789
2.

Meeting report: the Human Genome Meeting (HGM) 2019 in Seoul, Korea.

Solano A, Novelli G, Baghat S, Carnici P, van Ommen GJ, Reichardt JKV.

Hum Genomics. 2019 Aug 1;13(1):35. doi: 10.1186/s40246-019-0218-2. No abstract available.

3.

Search for Early Pancreatic Cancer Blood Biomarkers in Five European Prospective Population Biobanks Using Metabolomics.

Fest J, Vijfhuizen LS, Goeman JJ, Veth O, Joensuu A, Perola M, Männistö S, Ness-Jensen E, Hveem K, Haller T, Tonisson N, Mikkel K, Metspalu A, van Duijn CM, Ikram A, Stricker BH, Ruiter R, van Eijck CHJ, van Ommen GB, ʼt Hoen PAC.

Endocrinology. 2019 Jul 1;160(7):1731-1742. doi: 10.1210/en.2019-00165.

4.

Role of Academic Biobanks in Public-Private Partnerships in the European Biobanking and BioMolecular Resources Research Infrastructure Community.

Hämäläinen I, Törnwall O, Simell B, Zatloukal K, Perola M, van Ommen GB.

Biopreserv Biobank. 2019;17(1):46-51. doi: 10.1089/bio.2018.0024. Epub 2018 Nov 30.

PMID:
30499696
5.

Transnational access to large prospective cohorts in Europe: Current trends and unmet needs.

Simell BA, Törnwall OM, Hämäläinen I, Wichmann HE, Anton G, Brennan P, Bouvard L, Slimani N, Moskal A, Gunter M, Zatloukal K, Minion JT, Soini S, Mayrhofer MT, Murtagh MJ, van Ommen GJ, Johansson M, Perola M; BBMRI-LPC Consortium (FP7 GA no. 313010).

N Biotechnol. 2019 Mar 25;49:98-103. doi: 10.1016/j.nbt.2018.10.001. Epub 2018 Oct 17.

PMID:
30342241
6.

Enhancing Reuse of Data and Biological Material in Medical Research: From FAIR to FAIR-Health.

Holub P, Kohlmayer F, Prasser F, Mayrhofer MT, Schlünder I, Martin GM, Casati S, Koumakis L, Wutte A, Kozera Ł, Strapagiel D, Anton G, Zanetti G, Sezerman OU, Mendy M, Valík D, Lavitrano M, Dagher G, Zatloukal K, van Ommen GB, Litton JE.

Biopreserv Biobank. 2018 Apr;16(2):97-105. doi: 10.1089/bio.2017.0110. Epub 2018 Jan 23. Review.

7.

The development and growth of EJHG 1995-2017.

van Ommen G.

Eur J Hum Genet. 2017 Dec;25(s2):S23-S26. doi: 10.1038/ejhg.2017.146. No abstract available.

8.

The ESHG's second quarter century: consolidation and growth-the period covering 1992-2017.

van Ommen G, Rice M.

Eur J Hum Genet. 2017 Dec;25(s2):S1. doi: 10.1038/ejhg.2017.140. No abstract available.

9.

Chronic disease research in Europe and the need for integrated population cohorts.

Brennan P, Perola M, van Ommen GJ, Riboli E; European Cohort Consortium.

Eur J Epidemiol. 2017 Sep;32(9):741-749. doi: 10.1007/s10654-017-0315-2. Epub 2017 Oct 6. No abstract available.

10.

Effect of post-mortem delay on N-terminal huntingtin protein fragments in human control and Huntington disease brain lysates.

Schut MH, Patassini S, Kim EH, Bullock J, Waldvogel HJ, Faull RLM, Pepers BA, den Dunnen JT, van Ommen GB, van Roon-Mom WMC.

PLoS One. 2017 Jun 1;12(6):e0178556. doi: 10.1371/journal.pone.0178556. eCollection 2017.

11.

Introduction to the first ESHG/EJHG Anniversary issue.

van Ommen G.

Eur J Hum Genet. 2017 May 10. doi: 10.1038/ejhg.2017.77. [Epub ahead of print] No abstract available.

12.

Huntington's disease blood and brain show a common gene expression pattern and share an immune signature with Alzheimer's disease.

Hensman Moss DJ, Flower MD, Lo KK, Miller JR, van Ommen GB, 't Hoen PA, Stone TC, Guinee A, Langbehn DR, Jones L, Plagnol V, van Roon-Mom WM, Holmans P, Tabrizi SJ.

Sci Rep. 2017 Mar 21;7:44849. doi: 10.1038/srep44849.

13.

25 years of the EJHG!

van Ommen GB.

Eur J Hum Genet. 2016 Jan;25(1):1. doi: 10.1038/ejhg.2016.167. No abstract available.

14.

Complexity of gap junctions between horizontal cells of the carp retina.

Greb H, Hermann S, Dirks P, Ommen G, Kretschmer V, Schultz K, Zoidl G, Weiler R, Janssen-Bienhold U.

Neuroscience. 2017 Jan 6;340:8-22. doi: 10.1016/j.neuroscience.2016.10.044. Epub 2016 Oct 26.

PMID:
27793781
15.

A high-quality human reference panel reveals the complexity and distribution of genomic structural variants.

Hehir-Kwa JY, Marschall T, Kloosterman WP, Francioli LC, Baaijens JA, Dijkstra LJ, Abdellaoui A, Koval V, Thung DT, Wardenaar R, Renkens I, Coe BP, Deelen P, de Ligt J, Lameijer EW, van Dijk F, Hormozdiari F; Genome of the Netherlands Consortium, Uitterlinden AG, van Duijn CM, Eichler EE, de Bakker PI, Swertz MA, Wijmenga C, van Ommen GB, Slagboom PE, Boomsma DI, Schönhuth A, Ye K, Guryev V.

Nat Commun. 2016 Oct 6;7:12989. doi: 10.1038/ncomms12989.

16.

Integration of targeted metabolomics and transcriptomics identifies deregulation of phosphatidylcholine metabolism in Huntington's disease peripheral blood samples.

Mastrokolias A, Pool R, Mina E, Hettne KM, van Duijn E, van der Mast RC, van Ommen G, 't Hoen PA, Prehn C, Adamski J, van Roon-Mom W.

Metabolomics. 2016;12:137. Epub 2016 Jul 27.

17.

The Implicitome: A Resource for Rationalizing Gene-Disease Associations.

Hettne KM, Thompson M, van Haagen HH, van der Horst E, Kaliyaperumal R, Mina E, Tatum Z, Laros JF, van Mulligen EM, Schuemie M, Aten E, Li TS, Bruskiewich R, Good BM, Su AI, Kors JA, den Dunnen J, van Ommen GJ, Roos M, 't Hoen PA, Mons B, Schultes EA.

PLoS One. 2016 Feb 26;11(2):e0149621. doi: 10.1371/journal.pone.0149621. eCollection 2016.

18.

Transmission of human mtDNA heteroplasmy in the Genome of the Netherlands families: support for a variable-size bottleneck.

Li M, Rothwell R, Vermaat M, Wachsmuth M, Schröder R, Laros JF, van Oven M, de Bakker PI, Bovenberg JA, van Duijn CM, van Ommen GJ, Slagboom PE, Swertz MA, Wijmenga C; Genome of Netherlands Consortium, Kayser M, Boomsma DI, Zöllner S, de Knijff P, Stoneking M.

Genome Res. 2016 Apr;26(4):417-26. doi: 10.1101/gr.203216.115. Epub 2016 Feb 25.

19.

Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping: in vitro proof of concept.

Rutten JW, Dauwerse HG, Peters DJ, Goldfarb A, Venselaar H, Haffner C, van Ommen GJ, Aartsma-Rus AM, Lesnik Oberstein SA.

Brain. 2016 Apr;139(Pt 4):1123-35. doi: 10.1093/brain/aww011. Epub 2016 Feb 19.

PMID:
26912635
20.

Uncompromised 10-year survival of oldest old carrying somatic mutations in DNMT3A and TET2.

van den Akker EB, Pitts SJ, Deelen J, Moed MH, Potluri S, van Rooij J, Suchiman HE, Lakenberg N, de Dijcker WJ, Uitterlinden AG, Kraaij R, Hofman A, de Craen AJ, Houwing-Duistermaat JJ, van Ommen GJ; Genome of The Netherlands Consortium, Cox DR, van Meurs JB, Beekman M, Reinders MJ, Slagboom PE.

Blood. 2016 Mar 17;127(11):1512-5. doi: 10.1182/blood-2015-12-685925. Epub 2016 Jan 29. No abstract available.

21.

The Complete Genome Sequence of the Murine Pathobiont Helicobacter typhlonius.

Frank J, Dingemanse C, Schmitz AM, Vossen RH, van Ommen GJ, den Dunnen JT, Robanus-Maandag EC, Anvar SY.

Front Microbiol. 2016 Jan 8;6:1549. doi: 10.3389/fmicb.2015.01549. eCollection 2015.

22.

IL7R gene expression network associates with human healthy ageing.

Passtoors WM, van den Akker EB, Deelen J, Maier AB, van der Breggen R, Jansen R, Trompet S, van Heemst D, Derhovanessian E, Pawelec G, van Ommen GJ, Slagboom PE, Beekman M.

Immun Ageing. 2015 Nov 11;12:21. doi: 10.1186/s12979-015-0048-6. eCollection 2015.

23.

Akkermansia muciniphila and Helicobacter typhlonius modulate intestinal tumor development in mice.

Dingemanse C, Belzer C, van Hijum SA, Günthel M, Salvatori D, den Dunnen JT, Kuijper EJ, Devilee P, de Vos WM, van Ommen GB, Robanus-Maandag EC.

Carcinogenesis. 2015 Nov;36(11):1388-96. doi: 10.1093/carcin/bgv120. Epub 2015 Aug 29.

PMID:
26320104
24.

Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.

Draisma HHM, Pool R, Kobl M, Jansen R, Petersen AK, Vaarhorst AAM, Yet I, Haller T, Demirkan A, Esko T, Zhu G, Böhringer S, Beekman M, van Klinken JB, Römisch-Margl W, Prehn C, Adamski J, de Craen AJM, van Leeuwen EM, Amin N, Dharuri H, Westra HJ, Franke L, de Geus EJC, Hottenga JJ, Willemsen G, Henders AK, Montgomery GW, Nyholt DR, Whitfield JB, Penninx BW, Spector TD, Metspalu A, Slagboom PE, van Dijk KW, 't Hoen PAC, Strauch K, Martin NG, van Ommen GB, Illig T, Bell JT, Mangino M, Suhre K, McCarthy MI, Gieger C, Isaacs A, van Duijn CM, Boomsma DI.

Nat Commun. 2015 Jun 12;6:7208. doi: 10.1038/ncomms8208.

25.

The Pathogenesis and Therapy of Muscular Dystrophies.

Guiraud S, Aartsma-Rus A, Vieira NM, Davies KE, van Ommen GJ, Kunkel LM.

Annu Rev Genomics Hum Genet. 2015;16:281-308. doi: 10.1146/annurev-genom-090314-025003. Epub 2015 Jun 4. Review.

PMID:
26048046
26.

Genome-wide patterns and properties of de novo mutations in humans.

Francioli LC, Polak PP, Koren A, Menelaou A, Chun S, Renkens I; Genome of the Netherlands Consortium, van Duijn CM, Swertz M, Wijmenga C, van Ommen G, Slagboom PE, Boomsma DI, Ye K, Guryev V, Arndt PF, Kloosterman WP, de Bakker PIW, Sunyaev SR.

Nat Genet. 2015 Jul;47(7):822-826. doi: 10.1038/ng.3292. Epub 2015 May 18.

27.

Leishmania donovani P23 protects parasites against HSP90 inhibitor-mediated growth arrest.

Hombach A, Ommen G, Sattler V, Clos J.

Cell Stress Chaperones. 2015 Jul;20(4):673-85. doi: 10.1007/s12192-015-0595-y. Epub 2015 May 7.

28.

Characteristics of de novo structural changes in the human genome.

Kloosterman WP, Francioli LC, Hormozdiari F, Marschall T, Hehir-Kwa JY, Abdellaoui A, Lameijer EW, Moed MH, Koval V, Renkens I, van Roosmalen MJ, Arp P, Karssen LC, Coe BP, Handsaker RE, Suchiman ED, Cuppen E, Thung DT, McVey M, Wendl MC; Genome of Netherlands Consortium, Uitterlinden A, van Duijn CM, Swertz MA, Wijmenga C, van Ommen GB, Slagboom PE, Boomsma DI, Schönhuth A, Eichler EE, de Bakker PI, Ye K, Guryev V.

Genome Res. 2015 Jun;25(6):792-801. doi: 10.1101/gr.185041.114. Epub 2015 Apr 16.

29.

Genome of The Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels.

van Leeuwen EM, Karssen LC, Deelen J, Isaacs A, Medina-Gomez C, Mbarek H, Kanterakis A, Trompet S, Postmus I, Verweij N, van Enckevort DJ, Huffman JE, White CC, Feitosa MF, Bartz TM, Manichaikul A, Joshi PK, Peloso GM, Deelen P, van Dijk F, Willemsen G, de Geus EJ, Milaneschi Y, Penninx BW, Francioli LC, Menelaou A, Pulit SL, Rivadeneira F, Hofman A, Oostra BA, Franco OH, Mateo Leach I, Beekman M, de Craen AJ, Uh HW, Trochet H, Hocking LJ, Porteous DJ, Sattar N, Packard CJ, Buckley BM, Brody JA, Bis JC, Rotter JI, Mychaleckyj JC, Campbell H, Duan Q, Lange LA, Wilson JF, Hayward C, Polasek O, Vitart V, Rudan I, Wright AF, Rich SS, Psaty BM, Borecki IB, Kearney PM, Stott DJ, Adrienne Cupples L; Genome of The Netherlands Consortium, Jukema JW, van der Harst P, Sijbrands EJ, Hottenga JJ, Uitterlinden AG, Swertz MA, van Ommen GJ, de Bakker PI, Eline Slagboom P, Boomsma DI, Wijmenga C, van Duijn CM.

Nat Commun. 2015 Mar 9;6:6065. doi: 10.1038/ncomms7065.

30.

Huntington's disease biomarker progression profile identified by transcriptome sequencing in peripheral blood.

Mastrokolias A, Ariyurek Y, Goeman JJ, van Duijn E, Roos RA, van der Mast RC, van Ommen GB, den Dunnen JT, 't Hoen PA, van Roon-Mom WM.

Eur J Hum Genet. 2015 Oct;23(10):1349-56. doi: 10.1038/ejhg.2014.281. Epub 2015 Jan 28.

31.

BBMRI-ERIC as a resource for pharmaceutical and life science industries: the development of biobank-based Expert Centres.

van Ommen GJ, Törnwall O, Bréchot C, Dagher G, Galli J, Hveem K, Landegren U, Luchinat C, Metspalu A, Nilsson C, Solesvik OV, Perola M, Litton JE, Zatloukal K.

Eur J Hum Genet. 2015 Jul;23(7):893-900. doi: 10.1038/ejhg.2014.235. Epub 2014 Nov 19.

32.

Roux-en-Y gastric bypass surgery, but not calorie restriction, reduces plasma branched-chain amino acids in obese women independent of weight loss or the presence of type 2 diabetes.

Lips MA, Van Klinken JB, van Harmelen V, Dharuri HK, 't Hoen PA, Laros JF, van Ommen GJ, Janssen IM, Van Ramshorst B, Van Wagensveld BA, Swank DJ, Van Dielen F, Dane A, Harms A, Vreeken R, Hankemeier T, Smit JW, Pijl H, Willems van Dijk K.

Diabetes Care. 2014 Dec;37(12):3150-6. doi: 10.2337/dc14-0195. Epub 2014 Oct 14.

PMID:
25315204
33.

Selection and characterization of llama single domain antibodies against N-terminal huntingtin.

Schut MH, Pepers BA, Klooster R, van der Maarel SM, El Khatabi M, Verrips T, den Dunnen JT, van Ommen GJ, van Roon-Mom WM.

Neurol Sci. 2015 Mar;36(3):429-34. doi: 10.1007/s10072-014-1971-6. Epub 2014 Oct 8.

34.

The dystrophin gene and cognitive function in the general population.

Vojinovic D, Adams HH, van der Lee SJ, Ibrahim-Verbaas CA, Brouwer R, van den Hout MC, Oole E, van Rooij J, Uitterlinden A, Hofman A, van IJcken WF, Aartsma-Rus A, van Ommen GB, Ikram MA, van Duijn CM, Amin N.

Eur J Hum Genet. 2015 Jun;23(6):837-43. doi: 10.1038/ejhg.2014.183. Epub 2014 Sep 17.

35.

A small heat shock protein is essential for thermotolerance and intracellular survival of Leishmania donovani.

Hombach A, Ommen G, MacDonald A, Clos J.

J Cell Sci. 2014 Nov 1;127(Pt 21):4762-73. doi: 10.1242/jcs.157297. Epub 2014 Sep 1.

36.

Downregulation of the acetyl-CoA metabolic network in adipose tissue of obese diabetic individuals and recovery after weight loss.

Dharuri H, 't Hoen PA, van Klinken JB, Henneman P, Laros JF, Lips MA, El Bouazzaoui F, van Ommen GJ, Janssen I, van Ramshorst B, van Wagensveld BA, Pijl H, Willems van Dijk K, van Harmelen V.

Diabetologia. 2014 Nov;57(11):2384-92. doi: 10.1007/s00125-014-3347-0. Epub 2014 Aug 7.

PMID:
25099943
37.

Targeting TGF-β Signaling by Antisense Oligonucleotide-mediated Knockdown of TGF-β Type I Receptor.

Kemaladewi DU, Pasteuning S, van der Meulen JW, van Heiningen SH, van Ommen GJ, Ten Dijke P, Aartsma-Rus A, 't Hoen PA, Hoogaars WM.

Mol Ther Nucleic Acids. 2014 Apr 1;3:e156. doi: 10.1038/mtna.2014.7.

38.

Preventing formation of toxic N-terminal huntingtin fragments through antisense oligonucleotide-mediated protein modification.

Evers MM, Tran HD, Zalachoras I, Meijer OC, den Dunnen JT, van Ommen GJ, Aartsma-Rus A, van Roon-Mom WM.

Nucleic Acid Ther. 2014 Feb;24(1):4-12. doi: 10.1089/nat.2013.0452. Epub 2013 Dec 31.

PMID:
24380395
39.

Aging as accelerated accumulation of somatic variants: whole-genome sequencing of centenarian and middle-aged monozygotic twin pairs.

Ye K, Beekman M, Lameijer EW, Zhang Y, Moed MH, van den Akker EB, Deelen J, Houwing-Duistermaat JJ, Kremer D, Anvar SY, Laros JF, Jones D, Raine K, Blackburne B, Potluri S, Long Q, Guryev V, van der Breggen R, Westendorp RG, 't Hoen PA, den Dunnen J, van Ommen GJ, Willemsen G, Pitts SJ, Cox DR, Ning Z, Boomsma DI, Slagboom PE.

Twin Res Hum Genet. 2013 Dec;16(6):1026-32. doi: 10.1017/thg.2013.73. Epub 2013 Nov 4.

PMID:
24182360
40.

Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories.

't Hoen PA, Friedländer MR, Almlöf J, Sammeth M, Pulyakhina I, Anvar SY, Laros JF, Buermans HP, Karlberg O, Brännvall M; GEUVADIS Consortium, den Dunnen JT, van Ommen GJ, Gut IG, Guigó R, Estivill X, Syvänen AC, Dermitzakis ET, Lappalainen T.

Nat Biotechnol. 2013 Nov;31(11):1015-22. doi: 10.1038/nbt.2702. Epub 2013 Sep 15.

PMID:
24037425
41.

Transcriptome and genome sequencing uncovers functional variation in humans.

Lappalainen T, Sammeth M, Friedländer MR, 't Hoen PA, Monlong J, Rivas MA, Gonzàlez-Porta M, Kurbatova N, Griebel T, Ferreira PG, Barann M, Wieland T, Greger L, van Iterson M, Almlöf J, Ribeca P, Pulyakhina I, Esser D, Giger T, Tikhonov A, Sultan M, Bertier G, MacArthur DG, Lek M, Lizano E, Buermans HP, Padioleau I, Schwarzmayr T, Karlberg O, Ongen H, Kilpinen H, Beltran S, Gut M, Kahlem K, Amstislavskiy V, Stegle O, Pirinen M, Montgomery SB, Donnelly P, McCarthy MI, Flicek P, Strom TM; Geuvadis Consortium, Lehrach H, Schreiber S, Sudbrak R, Carracedo A, Antonarakis SE, Häsler R, Syvänen AC, van Ommen GJ, Brazma A, Meitinger T, Rosenstiel P, Guigó R, Gut IG, Estivill X, Dermitzakis ET.

Nature. 2013 Sep 26;501(7468):506-11. doi: 10.1038/nature12531. Epub 2013 Sep 15.

42.

Familial resemblance for serum metabolite concentrations.

Draisma HH, Beekman M, Pool R, van Ommen GJ, Adamski J, Prehn C, Vaarhorst AA, de Craen AJ, Willemsen G, Slagboom PE, Boomsma DI.

Twin Res Hum Genet. 2013 Oct;16(5):948-61. doi: 10.1017/thg.2013.59. Epub 2013 Aug 28. Erratum in: Twin Res Hum Genet. 2013 Oct;16(5):1014. Adamski, Jerzy [added]; Prehn, Cornelia [added].

PMID:
23985338
43.

DeepSAGE reveals genetic variants associated with alternative polyadenylation and expression of coding and non-coding transcripts.

Zhernakova DV, de Klerk E, Westra HJ, Mastrokolias A, Amini S, Ariyurek Y, Jansen R, Penninx BW, Hottenga JJ, Willemsen G, de Geus EJ, Boomsma DI, Veldink JH, van den Berg LH, Wijmenga C, den Dunnen JT, van Ommen GJ, 't Hoen PA, Franke L.

PLoS Genet. 2013 Jun;9(6):e1003594. doi: 10.1371/journal.pgen.1003594. Epub 2013 Jun 20. Erratum in: PLoS Genet. 2013 Sep;9(9). doi: 10.1371/annotation/296056cb-f80c-4b04-985b-180f6d3cc4ae.

44.

Human papillomavirus (HPV) upregulates the cellular deubiquitinase UCHL1 to suppress the keratinocyte's innate immune response.

Karim R, Tummers B, Meyers C, Biryukov JL, Alam S, Backendorf C, Jha V, Offringa R, van Ommen GJ, Melief CJ, Guardavaccaro D, Boer JM, van der Burg SH.

PLoS Pathog. 2013;9(5):e1003384. doi: 10.1371/journal.ppat.1003384. Epub 2013 May 23.

45.

The Genome of the Netherlands: design, and project goals.

Boomsma DI, Wijmenga C, Slagboom EP, Swertz MA, Karssen LC, Abdellaoui A, Ye K, Guryev V, Vermaat M, van Dijk F, Francioli LC, Hottenga JJ, Laros JF, Li Q, Li Y, Cao H, Chen R, Du Y, Li N, Cao S, van Setten J, Menelaou A, Pulit SL, Hehir-Kwa JY, Beekman M, Elbers CC, Byelas H, de Craen AJ, Deelen P, Dijkstra M, den Dunnen JT, de Knijff P, Houwing-Duistermaat J, Koval V, Estrada K, Hofman A, Kanterakis A, Enckevort Dv, Mai H, Kattenberg M, van Leeuwen EM, Neerincx PB, Oostra B, Rivadeneira F, Suchiman EH, Uitterlinden AG, Willemsen G, Wolffenbuttel BH, Wang J, de Bakker PI, van Ommen GJ, van Duijn CM.

Eur J Hum Genet. 2014 Feb;22(2):221-7. doi: 10.1038/ejhg.2013.118. Epub 2013 May 29.

46.

Ataxin-3 protein modification as a treatment strategy for spinocerebellar ataxia type 3: removal of the CAG containing exon.

Evers MM, Tran HD, Zalachoras I, Pepers BA, Meijer OC, den Dunnen JT, van Ommen GJ, Aartsma-Rus A, van Roon-Mom WM.

Neurobiol Dis. 2013 Oct;58:49-56. doi: 10.1016/j.nbd.2013.04.019. Epub 2013 May 6.

47.

Innovating therapies for muscle diseases.

Aartsma-Rus A, Van Ommen GJ, Kaplan JC.

Handb Clin Neurol. 2013;113:1497-501. doi: 10.1016/B978-0-444-59565-2.00020-4. Review.

PMID:
23622373
48.

EJHG to follow variation nomenclature and stimulate data reporting.

van Ommen GB.

Eur J Hum Genet. 2013 May;21(5):479. doi: 10.1038/ejhg.2013.54. No abstract available.

49.

Patients would benefit from simplified ethical review and consent procedure.

Hansson MG, van Ommen GJ, Chadwick R, Dillner J.

Lancet Oncol. 2013 May;14(6):451-3. doi: 10.1016/S1470-2045(13)70129-3. Epub 2013 Mar 21. No abstract available.

PMID:
23522924
50.

Deleterious alleles in the human genome are on average younger than neutral alleles of the same frequency.

Kiezun A, Pulit SL, Francioli LC, van Dijk F, Swertz M, Boomsma DI, van Duijn CM, Slagboom PE, van Ommen GJ, Wijmenga C; Genome of the Netherlands Consortium, de Bakker PI, Sunyaev SR.

PLoS Genet. 2013;9(2):e1003301. doi: 10.1371/journal.pgen.1003301. Epub 2013 Feb 28.

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