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Items: 41

1.

Long-term expanding human airway organoids for disease modeling.

Sachs N, Papaspyropoulos A, Zomer-van Ommen DD, Heo I, Böttinger L, Klay D, Weeber F, Huelsz-Prince G, Iakobachvili N, Amatngalim GD, de Ligt J, van Hoeck A, Proost N, Viveen MC, Lyubimova A, Teeven L, Derakhshan S, Korving J, Begthel H, Dekkers JF, Kumawat K, Ramos E, van Oosterhout MF, Offerhaus GJ, Wiener DJ, Olimpio EP, Dijkstra KK, Smit EF, van der Linden M, Jaksani S, van de Ven M, Jonkers J, Rios AC, Voest EE, van Moorsel CH, van der Ent CK, Cuppen E, van Oudenaarden A, Coenjaerts FE, Meyaard L, Bont LJ, Peters PJ, Tans SJ, van Zon JS, Boj SF, Vries RG, Beekman JM, Clevers H.

EMBO J. 2019 Feb 15;38(4). pii: e100300. doi: 10.15252/embj.2018100300. Epub 2019 Jan 14.

2.

Natural helix 9 mutants of PPARγ differently affect its transcriptional activity.

Broekema MF, Massink MPG, Donato C, de Ligt J, Schaarschmidt J, Borgman A, Schooneman MG, Melchers D, Gerding MN, Houtman R, Bonvin AMJJ, Majithia AR, Monajemi H, van Haaften GW, Soeters MR, Kalkhoven E.

Mol Metab. 2019 Feb;20:115-127. doi: 10.1016/j.molmet.2018.12.005. Epub 2018 Dec 16.

3.

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.

4.

A System-wide Approach to Monitor Responses to Synergistic BRAF and EGFR Inhibition in Colorectal Cancer Cells.

Ressa A, Bosdriesz E, de Ligt J, Mainardi S, Maddalo G, Prahallad A, Jager M, de la Fonteijne L, Fitzpatrick M, Groten S, Altelaar AFM, Bernards R, Cuppen E, Wessels L, Heck AJR.

Mol Cell Proteomics. 2018 Oct;17(10):1892-1908. doi: 10.1074/mcp.RA117.000486. Epub 2018 Jul 3.

PMID:
29970458
5.

Cancer cells copy migratory behavior and exchange signaling networks via extracellular vesicles.

Steenbeek SC, Pham TV, de Ligt J, Zomer A, Knol JC, Piersma SR, Schelfhorst T, Huisjes R, Schiffelers RM, Cuppen E, Jimenez CR, van Rheenen J.

EMBO J. 2018 Aug 1;37(15). pii: e98357. doi: 10.15252/embj.201798357. Epub 2018 Jun 14.

6.

A Living Biobank of Breast Cancer Organoids Captures Disease Heterogeneity.

Sachs N, de Ligt J, Kopper O, Gogola E, Bounova G, Weeber F, Balgobind AV, Wind K, Gracanin A, Begthel H, Korving J, van Boxtel R, Duarte AA, Lelieveld D, van Hoeck A, Ernst RF, Blokzijl F, Nijman IJ, Hoogstraat M, van de Ven M, Egan DA, Zinzalla V, Moll J, Boj SF, Voest EE, Wessels L, van Diest PJ, Rottenberg S, Vries RGJ, Cuppen E, Clevers H.

Cell. 2018 Jan 11;172(1-2):373-386.e10. doi: 10.1016/j.cell.2017.11.010. Epub 2017 Dec 7.

7.

Mapping and phasing of structural variation in patient genomes using nanopore sequencing.

Cretu Stancu M, van Roosmalen MJ, Renkens I, Nieboer MM, Middelkamp S, de Ligt J, Pregno G, Giachino D, Mandrile G, Espejo Valle-Inclan J, Korzelius J, de Bruijn E, Cuppen E, Talkowski ME, Marschall T, de Ridder J, Kloosterman WP.

Nat Commun. 2017 Nov 6;8(1):1326. doi: 10.1038/s41467-017-01343-4.

8.

Use of CRISPR-modified human stem cell organoids to study the origin of mutational signatures in cancer.

Drost J, van Boxtel R, Blokzijl F, Mizutani T, Sasaki N, Sasselli V, de Ligt J, Behjati S, Grolleman JE, van Wezel T, Nik-Zainal S, Kuiper RP, Cuppen E, Clevers H.

Science. 2017 Oct 13;358(6360):234-238. doi: 10.1126/science.aao3130. Epub 2017 Sep 14.

9.

Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing.

Vogelaar IP, van der Post RS, van Krieken JHJ, Spruijt L, van Zelst-Stams WA, Kets CM, Lubinski J, Jakubowska A, Teodorczyk U, Aalfs CM, van Hest LP, Pinheiro H, Oliveira C, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, de Ligt J, Vissers LELM, Hoischen A, Gilissen C, van de Vorst M, Goeman JJ, Schackert HK, Ranzani GN, Molinaro V, Gómez García EB, Hes FJ, Holinski-Feder E, Genuardi M, Ausems MGEM, Sijmons RH, Wagner A, van der Kolk LE, Bjørnevoll I, Høberg-Vetti H, van Kessel AG, Kuiper RP, Ligtenberg MJL, Hoogerbrugge N.

Eur J Hum Genet. 2017 Nov;25(11):1246-1252. doi: 10.1038/ejhg.2017.138. Epub 2017 Sep 6.

10.

Genetic dissection of colorectal cancer progression by orthotopic transplantation of engineered cancer organoids.

Fumagalli A, Drost J, Suijkerbuijk SJ, van Boxtel R, de Ligt J, Offerhaus GJ, Begthel H, Beerling E, Tan EH, Sansom OJ, Cuppen E, Clevers H, van Rheenen J.

Proc Natl Acad Sci U S A. 2017 Mar 21;114(12):E2357-E2364. doi: 10.1073/pnas.1701219114. Epub 2017 Mar 7.

11.

Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells.

Middelkamp S, van Heesch S, Braat AK, de Ligt J, van Iterson M, Simonis M, van Roosmalen MJ, Kelder MJ, Kruisselbrink E, Hochstenbach R, Verbeek NE, Ippel EF, Adolfs Y, Pasterkamp RJ, Kloosterman WP, Kuijk EW, Cuppen E.

Genome Med. 2017 Jan 26;9(1):9. doi: 10.1186/s13073-017-0399-z.

12.

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis.

Ockeloen CW, Khandelwal KD, Dreesen K, Ludwig KU, Sullivan R, van Rooij IALM, Thonissen M, Swinnen S, Phan M, Conte F, Ishorst N, Gilissen C, RoaFuentes L, van de Vorst M, Henkes A, Steehouwer M, van Beusekom E, Bloemen M, Vankeirsbilck B, Bergé S, Hens G, Schoenaers J, Poorten VV, Roosenboom J, Verdonck A, Devriendt K, Roeleveldt N, Jhangiani SN, Vissers LELM, Lupski JR, de Ligt J, Von den Hoff JW, Pfundt R, Brunner HG, Zhou H, Dixon J, Mangold E, van Bokhoven H, Dixon MJ, Kleefstra T, Hoischen A, Carels CEL.

Genet Med. 2016 Nov;18(11):1158-1162. doi: 10.1038/gim.2016.10. Epub 2016 Mar 10.

13.

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.

14.

Tissue-specific mutation accumulation in human adult stem cells during life.

Blokzijl F, de Ligt J, Jager M, Sasselli V, Roerink S, Sasaki N, Huch M, Boymans S, Kuijk E, Prins P, Nijman IJ, Martincorena I, Mokry M, Wiegerinck CL, Middendorp S, Sato T, Schwank G, Nieuwenhuis EE, Verstegen MM, van der Laan LJ, de Jonge J, IJzermans JN, Vries RG, van de Wetering M, Stratton MR, Clevers H, Cuppen E, van Boxtel R.

Nature. 2016 Oct 13;538(7624):260-264. doi: 10.1038/nature19768. Epub 2016 Oct 3.

15.

The Genomic Scrapheap Challenge; Extracting Relevant Data from Unmapped Whole Genome Sequencing Reads, Including Strain Specific Genomic Segments, in Rats.

van der Weide RH, Simonis M, Hermsen R, Toonen P, Cuppen E, de Ligt J.

PLoS One. 2016 Aug 8;11(8):e0160036. doi: 10.1371/journal.pone.0160036. eCollection 2016.

16.

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2.

Zazo Seco C, Serrão de Castro L, van Nierop JW, Morín M, Jhangiani S, Verver EJ, Schraders M, Maiwald N, Wesdorp M, Venselaar H, Spruijt L, Oostrik J, Schoots J; Baylor-Hopkins Center for Mendelian Genomics, van Reeuwijk J, Lelieveld SH, Huygen PL, Insenser M, Admiraal RJ, Pennings RJ, Hoefsloot LH, Arias-Vásquez A, de Ligt J, Yntema HG, Jansen JH, Muzny DM, Huls G, van Rossum MM, Lupski JR, Moreno-Pelayo MA, Kunst HP, Kremer H.

Am J Hum Genet. 2015 Nov 5;97(5):647-60. doi: 10.1016/j.ajhg.2015.09.011. Epub 2015 Oct 29.

17.

Novel genetic causes for cerebral visual impairment.

Bosch DG, Boonstra FN, de Leeuw N, Pfundt R, Nillesen WM, de Ligt J, Gilissen C, Jhangiani S, Lupski JR, Cremers FP, de Vries BB.

Eur J Hum Genet. 2016 May;24(5):660-5. doi: 10.1038/ejhg.2015.186. Epub 2015 Sep 9.

18.

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.

Vrijenhoek T, Kraaijeveld K, Elferink M, de Ligt J, Kranendonk E, Santen G, Nijman IJ, Butler D, Claes G, Costessi A, Dorlijn W, van Eyndhoven W, Halley DJ, van den Hout MC, van Hove S, Johansson LF, Jongbloed JD, Kamps R, Kockx CE, de Koning B, Kriek M, Deprez RL, Lunstroo H, Mannens M, Mook OR, Nelen M, Ploem C, Rijnen M, Saris JJ, Sinke R, Sistermans E, van Slegtenhorst M, Sleutels F, van der Stoep N, van Tienhoven M, Vermaat M, Vogel M, Waisfisz Q, Weiss JM, van den Wijngaard A, van Workum W, Ijntema H, van der Zwaag B, van IJcken WF, den Dunnen JT, Veltman JA, Hennekam R, Cuppen E.

Eur J Hum Genet. 2015 Sep;23(9):1270. doi: 10.1038/ejhg.2015.44. No abstract available.

19.

Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing.

de Ligt J, Boone PM, Pfundt R, Vissers LE, de Leeuw N, Shaw C, Brunner HG, Lupski JR, Veltman JA, Hehir-Kwa JY.

Genom Data. 2014 Dec;2:144-146.

20.

Toward effective software solutions for big biology.

Prins P, de Ligt J, Tarasov A, Jansen RC, Cuppen E, Bourne PE.

Nat Biotechnol. 2015 Jul;33(7):686-7. doi: 10.1038/nbt.3240. No abstract available.

PMID:
26154002
21.

Genomic landscape of rat strain and substrain variation.

Hermsen R, de Ligt J, Spee W, Blokzijl F, Schäfer S, Adami E, Boymans S, Flink S, van Boxtel R, van der Weide RH, Aitman T, Hübner N, Simonis M, Tabakoff B, Guryev V, Cuppen E.

BMC Genomics. 2015 May 6;16:357. doi: 10.1186/s12864-015-1594-1.

22.

Cerebral visual impairment and intellectual disability caused by PGAP1 variants.

Bosch DG, Boonstra FN, Kinoshita T, Jhangiani S, de Ligt J, Cremers FP, Lupski JR, Murakami Y, de Vries BB.

Eur J Hum Genet. 2015 Dec;23(12):1689-93. doi: 10.1038/ejhg.2015.42. Epub 2015 Mar 25.

23.

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.

Vrijenhoek T, Kraaijeveld K, Elferink M, de Ligt J, Kranendonk E, Santen G, Nijman IJ, Butler D, Claes G, Costessi A, Dorlijn W, van Eyndhoven W, Halley DJ, van den Hout MC, van Hove S, Johansson LF, Jongbloed JD, Kamps R, Kockx CE, de Koning B, Kriek M, Lekanne Dit Deprez R, Lunstroo H, Mannens M, Mook OR, Nelen M, Ploem C, Rijnen M, Saris JJ, Sinke R, Sistermans E, van Slegtenhorst M, Sleutels F, van der Stoep N, van Tienhoven M, Vermaat M, Vogel M, Waisfisz Q, Marjan Weiss J, van den Wijngaard A, van Workum W, Ijntema H, van der Zwaag B, van IJcken WF, den Dunnen J, Veltman JA, Hennekam R, Cuppen E.

Eur J Hum Genet. 2015 Sep;23(9):1142-50. doi: 10.1038/ejhg.2014.279. Epub 2015 Jan 28. Erratum in: Eur J Hum Genet. 2015 Sep;23(9):1270. Mook, Olaf R [added].

24.

Long-term culture of genome-stable bipotent stem cells from adult human liver.

Huch M, Gehart H, van Boxtel R, Hamer K, Blokzijl F, Verstegen MM, Ellis E, van Wenum M, Fuchs SA, de Ligt J, van de Wetering M, Sasaki N, Boers SJ, Kemperman H, de Jonge J, Ijzermans JN, Nieuwenhuis EE, Hoekstra R, Strom S, Vries RR, van der Laan LJ, Cuppen E, Clevers H.

Cell. 2015 Jan 15;160(1-2):299-312. doi: 10.1016/j.cell.2014.11.050. Epub 2014 Dec 18.

25.

Mobster: accurate detection of mobile element insertions in next generation sequencing data.

Thung DT, de Ligt J, Vissers LE, Steehouwer M, Kroon M, de Vries P, Slagboom EP, Ye K, Veltman JA, Hehir-Kwa JY.

Genome Biol. 2014;15(10):488.

26.

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.

Yamamoto S, Jaiswal M, Charng WL, Gambin T, Karaca E, Mirzaa G, Wiszniewski W, Sandoval H, Haelterman NA, Xiong B, Zhang K, Bayat V, David G, Li T, Chen K, Gala U, Harel T, Pehlivan D, Penney S, Vissers LELM, de Ligt J, Jhangiani SN, Xie Y, Tsang SH, Parman Y, Sivaci M, Battaloglu E, Muzny D, Wan YW, Liu Z, Lin-Moore AT, Clark RD, Curry CJ, Link N, Schulze KL, Boerwinkle E, Dobyns WB, Allikmets R, Gibbs RA, Chen R, Lupski JR, Wangler MF, Bellen HJ.

Cell. 2014 Sep 25;159(1):200-214. doi: 10.1016/j.cell.2014.09.002.

27.

Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.

Vissers LE, Bonetti M, Paardekooper Overman J, Nillesen WM, Frints SG, de Ligt J, Zampino G, Justino A, Machado JC, Schepens M, Brunner HG, Veltman JA, Scheffer H, Gros P, Costa JL, Tartaglia M, van der Burgt I, Yntema HG, den Hertog J.

Eur J Hum Genet. 2015 Mar;23(3):317-24. doi: 10.1038/ejhg.2014.115. Epub 2014 Jun 18.

28.

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.

Vulto-van Silfhout AT, Rajamanickam S, Jensik PJ, Vergult S, de Rocker N, Newhall KJ, Raghavan R, Reardon SN, Jarrett K, McIntyre T, Bulinski J, Ownby SL, Huggenvik JI, McKnight GS, Rose GM, Cai X, Willaert A, Zweier C, Endele S, de Ligt J, van Bon BW, Lugtenberg D, de Vries PF, Veltman JA, van Bokhoven H, Brunner HG, Rauch A, de Brouwer AP, Carvill GL, Hoischen A, Mefford HC, Eichler EE, Vissers LE, Menten B, Collard MW, de Vries BB.

Am J Hum Genet. 2014 May 1;94(5):649-61. doi: 10.1016/j.ajhg.2014.03.013. Epub 2014 Apr 10.

29.

NR2F1 mutations cause optic atrophy with intellectual disability.

Bosch DG, Boonstra FN, Gonzaga-Jauregui C, Xu M, de Ligt J, Jhangiani S, Wiszniewski W, Muzny DM, Yntema HG, Pfundt R, Vissers LE, Spruijt L, Blokland EA, Chen CA; Baylor-Hopkins Center for Mendelian Genomics, Lewis RA, Tsai SY, Gibbs RA, Tsai MJ, Lupski JR, Zoghbi HY, Cremers FP, de Vries BB, Schaaf CP.

Am J Hum Genet. 2014 Feb 6;94(2):303-9. doi: 10.1016/j.ajhg.2014.01.002. Epub 2014 Jan 23.

30.

Detecting fetal subchromosomal aberrations by MPS: an unexpected discrepancy between amniocyte DNA and ccffDNA.

Buysse K, de Ligt J, Janssen IM, van Bon BW, Gomes I, Hehir-Kwa J, Eggink AJ, van Vugt JM, Vissers LE, Geurts van Kessel A, Faas BH.

Prenat Diagn. 2014 Apr;34(4):402-5. doi: 10.1002/pd.4312. Epub 2014 Feb 6. No abstract available.

PMID:
24391091
31.

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

Schuurs-Hoeijmakers JH, Vulto-van Silfhout AT, Vissers LE, van de Vondervoort II, van Bon BW, de Ligt J, Gilissen C, Hehir-Kwa JY, Neveling K, del Rosario M, Hira G, Reitano S, Vitello A, Failla P, Greco D, Fichera M, Galesi O, Kleefstra T, Greally MT, Ockeloen CW, Willemsen MH, Bongers EM, Janssen IM, Pfundt R, Veltman JA, Romano C, Willemsen MA, van Bokhoven H, Brunner HG, de Vries BB, de Brouwer AP.

J Med Genet. 2013 Dec;50(12):802-11. doi: 10.1136/jmedgenet-2013-101644. Epub 2013 Oct 11. Erratum in: J Med Genet. 2018 May 9;:.

PMID:
24123876
32.

Reliable noninvasive prenatal testing by massively parallel sequencing of circulating cell-free DNA from maternal plasma processed up to 24h after venipuncture.

Buysse K, Beulen L, Gomes I, Gilissen C, Keesmaat C, Janssen IM, Derks-Willemen JJ, de Ligt J, Feenstra I, Bekker MN, van Vugt JM, Geurts van Kessel A, Vissers LE, Faas BH.

Clin Biochem. 2013 Dec;46(18):1783-6. doi: 10.1016/j.clinbiochem.2013.07.020. Epub 2013 Aug 8.

PMID:
23933476
33.

Detection of clinically relevant copy number variants with whole-exome sequencing.

de Ligt J, Boone PM, Pfundt R, Vissers LE, Richmond T, Geoghegan J, O'Moore K, de Leeuw N, Shaw C, Brunner HG, Lupski JR, Veltman JA, Hehir-Kwa JY.

Hum Mutat. 2013 Oct;34(10):1439-48. doi: 10.1002/humu.22387. Epub 2013 Aug 30.

PMID:
23893877
34.

GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila.

Willemsen MH, Nijhof B, Fenckova M, Nillesen WM, Bongers EM, Castells-Nobau A, Asztalos L, Viragh E, van Bon BW, Tezel E, Veltman JA, Brunner HG, de Vries BB, de Ligt J, Yntema HG, van Bokhoven H, Isidor B, Le Caignec C, Lorino E, Asztalos Z, Koolen DA, Vissers LE, Schenck A, Kleefstra T.

J Med Genet. 2013 Aug;50(8):507-14. doi: 10.1136/jmedgenet-2012-101490. Epub 2013 May 4.

PMID:
23644463
35.

Point mutations as a source of de novo genetic disease.

de Ligt J, Veltman JA, Vissers LE.

Curr Opin Genet Dev. 2013 Jun;23(3):257-63. doi: 10.1016/j.gde.2013.01.007. Epub 2013 Mar 1. Review.

PMID:
23453690
36.

Diagnostic exome sequencing in persons with severe intellectual disability.

de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE.

N Engl J Med. 2012 Nov 15;367(20):1921-9. doi: 10.1056/NEJMoa1206524. Epub 2012 Oct 3.

37.

Non-invasive prenatal diagnosis of fetal aneuploidies using massively parallel sequencing-by-ligation and evidence that cell-free fetal DNA in the maternal plasma originates from cytotrophoblastic cells.

Faas BH, de Ligt J, Janssen I, Eggink AJ, Wijnberger LD, van Vugt JM, Vissers L, Geurts van Kessel A.

Expert Opin Biol Ther. 2012 Jun;12 Suppl 1:S19-26. doi: 10.1517/14712598.2012.670632. Epub 2012 Apr 16.

PMID:
22500971
38.

Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing.

Itsara A, Vissers LE, Steinberg KM, Meyer KJ, Zody MC, Koolen DA, de Ligt J, Cuppen E, Baker C, Lee C, Graves TA, Wilson RK, Jenkins RB, Veltman JA, Eichler EE.

Am J Hum Genet. 2012 Apr 6;90(4):599-613. doi: 10.1016/j.ajhg.2012.02.013.

39.

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.

Willemsen MH, Vissers LE, Willemsen MA, van Bon BW, Kroes T, de Ligt J, de Vries BB, Schoots J, Lugtenberg D, Hamel BC, van Bokhoven H, Brunner HG, Veltman JA, Kleefstra T.

J Med Genet. 2012 Mar;49(3):179-83. doi: 10.1136/jmedgenet-2011-100542.

PMID:
22368300
40.

Next-generation genetic testing for retinitis pigmentosa.

Neveling K, Collin RW, Gilissen C, van Huet RA, Visser L, Kwint MP, Gijsen SJ, Zonneveld MN, Wieskamp N, de Ligt J, Siemiatkowska AM, Hoefsloot LH, Buckley MF, Kellner U, Branham KE, den Hollander AI, Hoischen A, Hoyng C, Klevering BJ, van den Born LI, Veltman JA, Cremers FP, Scheffer H.

Hum Mutat. 2012 Jun;33(6):963-72. doi: 10.1002/humu.22045. Epub 2012 Mar 19. Erratum in: Hum Mutat. 2013 Aug;34(8):1181.

41.

A de novo paradigm for mental retardation.

Vissers LE, de Ligt J, Gilissen C, Janssen I, Steehouwer M, de Vries P, van Lier B, Arts P, Wieskamp N, del Rosario M, van Bon BW, Hoischen A, de Vries BB, Brunner HG, Veltman JA.

Nat Genet. 2010 Dec;42(12):1109-12. doi: 10.1038/ng.712. Epub 2010 Nov 14.

PMID:
21076407

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