Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 104

1.

[Simple is not always easy: genetics in general psychiatry].

Verhoeven WMA, Egger JIM, Kleefstra T, de Leeuw N.

Tijdschr Psychiatr. 2017;59(7):433-437. Dutch.

2.

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.

Pfundt R, Del Rosario M, Vissers LELM, Kwint MP, Janssen IM, de Leeuw N, Yntema HG, Nelen MR, Lugtenberg D, Kamsteeg EJ, Wieskamp N, Stegmann APA, Stevens SJC, Rodenburg RJT, Simons A, Mensenkamp AR, Rinne T, Gilissen C, Scheffer H, Veltman JA Prof Dr, Hehir-Kwa JY.

Genet Med. 2017 Jun;19(6):667-675. doi: 10.1038/gim.2016.163. Epub 2016 Oct 27.

3.

Catalysis for Fuels: general discussion.

Niemantsverdriet H, van Helden P, Hensen E, Lennon D, Holt K, Hutchings G, Bowker M, Catlow R, Shozi M, Jewell L, Claeys M, Hayward J, Coville N, Fischer N, Roldan A, Redekop E, Gambu T, Deeplal L, Mkhwanazi TPO, Weststrate KJ, Bahnemann D, Neurock M, Schulz H, Ma D, Kondrat S, Collier P, Gupta AK, Corma A, Akomeah P, Iglesia E, van Steen E, de Leeuw N, Wolf M, van Heerden T.

Faraday Discuss. 2017 Apr 28;197:165-205. doi: 10.1039/c7fd90010d. No abstract available.

PMID:
28429020
4.

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.

5.

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.

Pfundt R, Del Rosario M, Vissers LE, Kwint MP, Janssen IM, de Leeuw N, Yntema HG, Nelen MR, Lugtenberg D, Kamsteeg EJ, Wieskamp N, Stegmann AP, Stevens SJ, Rodenburg RJ, Simons A, Mensenkamp AR, Rinne T, Gilissen C, Scheffer H, Veltman JA, Hehir-Kwa JY.

Genet Med. 2016 Oct 27. doi: 10.1038/gim.2016.163. [Epub ahead of print]

PMID:
27787500
6.

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome.

Joshi RS, Garg P, Zaitlen N, Lappalainen T, Watson CT, Azam N, Ho D, Li X, Antonarakis SE, Brunner HG, Buiting K, Cheung SW, Coffee B, Eggermann T, Francis D, Geraedts JP, Gimelli G, Jacobson SG, Le Caignec C, de Leeuw N, Liehr T, Mackay DJ, Montgomery SB, Pagnamenta AT, Papenhausen P, Robinson DO, Ruivenkamp C, Schwartz C, Steiner B, Stevenson DA, Surti U, Wassink T, Sharp AJ.

Am J Hum Genet. 2016 Sep 1;99(3):555-66. doi: 10.1016/j.ajhg.2016.06.032. Epub 2016 Aug 25.

7.

Duplications of SLC1A3: Associated with ADHD and autism.

van Amen-Hellebrekers CJ, Jansen S, Pfundt R, Schuurs-Hoeijmakers JH, Koolen DA, Marcelis CL, de Leeuw N, de Vries BB.

Eur J Med Genet. 2016 Aug;59(8):373-6. doi: 10.1016/j.ejmg.2016.06.003. Epub 2016 Jun 11.

PMID:
27296938
8.

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 YW, Mok GT, 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):569-86. doi: 10.1007/s00439-016-1655-9. Epub 2016 Apr 12.

9.

TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.

Ba W, Yan Y, Reijnders MR, Schuurs-Hoeijmakers JH, Feenstra I, Bongers EM, Bosch DG, De Leeuw N, Pfundt R, Gilissen C, De Vries PF, Veltman JA, Hoischen A, Mefford HC, Eichler EE, Vissers LE, Nadif Kasri N, De Vries BB.

Hum Mol Genet. 2016 Mar 1;25(5):892-902. doi: 10.1093/hmg/ddv618. Epub 2015 Dec 31.

10.

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.

11.

Phenotypic Variability Associated with a Large Recurrent 1q21.1 Microduplication in a Three-Generation Family.

Verhagen JM, de Leeuw N, Papatsonis DN, Grijseels EW, de Krijger RR, Wessels MW.

Mol Syndromol. 2015 Jul;6(2):71-6. doi: 10.1159/000431274. Epub 2015 Jun 17.

12.

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.

13.

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.

14.

The clustering of functionally related genes contributes to CNV-mediated disease.

Andrews T, Honti F, Pfundt R, de Leeuw N, Hehir-Kwa J, Vulto-van Silfhout A, de Vries B, Webber C.

Genome Res. 2015 Jun;25(6):802-13. doi: 10.1101/gr.184325.114. Epub 2015 Apr 17.

15.

Gene networks underlying convergent and pleiotropic phenotypes in a large and systematically-phenotyped cohort with heterogeneous developmental disorders.

Andrews T, Meader S, Vulto-van Silfhout A, Taylor A, Steinberg J, Hehir-Kwa J, Pfundt R, de Leeuw N, de Vries BB, Webber C.

PLoS Genet. 2015 Mar 17;11(3):e1005012. doi: 10.1371/journal.pgen.1005012. eCollection 2015 Mar.

16.

A 12q24.31 interstitial deletion in an adult male with MODY3: neuropsychiatric and neuropsychological characteristics.

Verhoeven WM, Egger JI, van den Bergh JP, van Beek R, Kleefstra T, de Leeuw N.

Am J Med Genet A. 2015 Jan;167A(1):169-73. doi: 10.1002/ajmg.a.36730. Epub 2014 Nov 25.

PMID:
25425063
17.

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.

18.

Refining analyses of copy number variation identifies specific genes associated with developmental delay.

Coe BP, Witherspoon K, Rosenfeld JA, van Bon BW, Vulto-van Silfhout AT, Bosco P, Friend KL, Baker C, Buono S, Vissers LE, Schuurs-Hoeijmakers JH, Hoischen A, Pfundt R, Krumm N, Carvill GL, Li D, Amaral D, Brown N, Lockhart PJ, Scheffer IE, Alberti A, Shaw M, Pettinato R, Tervo R, de Leeuw N, Reijnders MR, Torchia BS, Peeters H, O'Roak BJ, Fichera M, Hehir-Kwa JY, Shendure J, Mefford HC, Haan E, Gécz J, de Vries BB, Romano C, Eichler EE.

Nat Genet. 2014 Oct;46(10):1063-71. doi: 10.1038/ng.3092. Epub 2014 Sep 14.

19.

Central 22q11.2 deletions.

Rump P, de Leeuw N, van Essen AJ, Verschuuren-Bemelmans CC, Veenstra-Knol HE, Swinkels ME, Oostdijk W, Ruivenkamp C, Reardon W, de Munnik S, Ruiter M, Frumkin A, Lev D, Evers C, Sikkema-Raddatz B, Dijkhuizen T, van Ravenswaaij-Arts CM.

Am J Med Genet A. 2014 Nov;164A(11):2707-23. doi: 10.1002/ajmg.a.36711. Epub 2014 Aug 14.

PMID:
25123976
20.

A Rare, Recurrent, De Novo 14q32.2q32.31 Microdeletion of 1.1 Mb in a 20-Year-Old Female Patient with a Maternal UPD(14)-Like Phenotype and Intellectual Disability.

Zada A, Mundhofir FE, Pfundt R, Leijsten N, Nillesen W, Faradz SM, de Leeuw N.

Case Rep Genet. 2014;2014:530134. doi: 10.1155/2014/530134. Epub 2014 Mar 30.

Supplemental Content

Loading ...
Support Center