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Results: 1 to 20 of 154

1.

The diagnostic pathway in complex paediatric neurology: A cost analysis.

van Nimwegen KJ, Schieving JH, Willemsen MA, Veltman JA, van der Burg S, van der Wilt GJ, Grutters JP.

Eur J Paediatr Neurol. 2014 Dec 29. pii: S1090-3798(14)00216-5. doi: 10.1016/j.ejpn.2014.12.014. [Epub ahead of print]

PMID:
25604808
[PubMed - as supplied by publisher]
2.

Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.

Kumar R, Corbett MA, Smith NJ, Jolly LA, Tan C, Keating DJ, Duffield MD, Utsumi T, Moriya K, Smith KR, Hoischen A, Abbott K, Harbord MG, Compton AG, Woenig JA, Arts P, Kwint M, Wieskamp N, Gijsen S, Veltman JA, Bahlo M, Gleeson JG, Haan E, Gecz J.

Hum Mol Genet. 2014 Dec 11. pii: ddu614. [Epub ahead of print]

PMID:
25504045
[PubMed - as supplied by publisher]
3.

Exome sequencing identifies three novel candidate genes implicated in intellectual disability.

Agha Z, Iqbal Z, Azam M, Ayub H, Vissers LE, Gilissen C, Ali SH, Riaz M, Veltman JA, Pfundt R, van Bokhoven H, Qamar R.

PLoS One. 2014 Nov 18;9(11):e112687. doi: 10.1371/journal.pone.0112687. eCollection 2014.

PMID:
25405613
[PubMed - in process]
Free PMC Article
4.

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

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

Genome Biol. 2014 Oct 28;15(10):488. [Epub ahead of print]

PMID:
25348035
[PubMed - as supplied by publisher]
Free PMC Article
5.

Meningitis in HIV-positive patients in sub-Saharan Africa: a review.

Veltman JA, Bristow CC, Klausner JD.

J Int AIDS Soc. 2014 Oct 10;17:19184. doi: 10.7448/IAS.17.1.19184. eCollection 2014.

PMID:
25308903
[PubMed - in process]
Free PMC Article
6.

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.

Campbell IM, Yuan B, Robberecht C, Pfundt R, Szafranski P, McEntagart ME, Nagamani SC, Erez A, Bartnik M, Wiśniowiecka-Kowalnik B, Plunkett KS, Pursley AN, Kang SH, Bi W, Lalani SR, Bacino CA, Vast M, Marks K, Patton M, Olofsson P, Patel A, Veltman JA, Cheung SW, Shaw CA, Vissers LE, Vermeesch JR, Lupski JR, Stankiewicz P.

Am J Hum Genet. 2014 Aug 7;95(2):173-82. doi: 10.1016/j.ajhg.2014.07.003. Epub 2014 Jul 31.

PMID:
25087610
[PubMed - indexed for MEDLINE]
7.

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. 2014 Jun 18. doi: 10.1038/ejhg.2014.115. [Epub ahead of print]

PMID:
24939586
[PubMed - as supplied by publisher]
8.

Genome sequencing identifies major causes of severe intellectual disability.

Gilissen C, Hehir-Kwa JY, Thung DT, van de Vorst M, van Bon BW, Willemsen MH, Kwint M, Janssen IM, Hoischen A, Schenck A, Leach R, Klein R, Tearle R, Bo T, Pfundt R, Yntema HG, de Vries BB, Kleefstra T, Brunner HG, Vissers LE, Veltman JA.

Nature. 2014 Jul 17;511(7509):344-7. doi: 10.1038/nature13394. Epub 2014 Jun 4.

PMID:
24896178
[PubMed - indexed for MEDLINE]
9.

Patient experiences with gene panels based on exome sequencing in clinical diagnostics: high acceptance and low distress.

Sie AS, Prins JB, van Zelst-Stams WA, Veltman JA, Feenstra I, Hoogerbrugge N.

Clin Genet. 2014 May 23. doi: 10.1111/cge.12433. [Epub ahead of print]

PMID:
24863757
[PubMed - as supplied by publisher]
10.

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.

PMID:
24726472
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis.

Cnossen WR, te Morsche RH, Hoischen A, Gilissen C, Chrispijn M, Venselaar H, Mehdi S, Bergmann C, Veltman JA, Drenth JP.

Proc Natl Acad Sci U S A. 2014 Apr 8;111(14):5343-8. doi: 10.1073/pnas.1309438111. Epub 2014 Mar 24.

PMID:
24706814
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.

Baasch AL, Hüning I, Gilissen C, Klepper J, Veltman JA, Gillessen-Kaesbach G, Hoischen A, Lohmann K.

Epilepsia. 2014 Apr;55(4):e25-9. doi: 10.1111/epi.12554. Epub 2014 Mar 1. Review.

PMID:
24579881
[PubMed - indexed for MEDLINE]
13.

Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.

Van Scherpenzeel M, Timal S, Rymen D, Hoischen A, Wuhrer M, Hipgrave-Ederveen A, Grunewald S, Peanne R, Saada A, Edvardson S, Grønborg S, Ruijter G, Kattentidt-Mouravieva A, Brum JM, Freckmann ML, Tomkins S, Jalan A, Prochazkova D, Ondruskova N, Hansikova H, Willemsen MA, Hensbergen PJ, Matthijs G, Wevers RA, Veltman JA, Morava E, Lefeber DJ.

Brain. 2014 Apr;137(Pt 4):1030-8. doi: 10.1093/brain/awu019. Epub 2014 Feb 24.

PMID:
24566669
[PubMed - indexed for MEDLINE]
14.

Clinical exome sequencing in daily practice: 1,000 patients and beyond.

van Zelst-Stams WA, Scheffer H, Veltman JA.

Genome Med. 2014 Jan 24;6(1):2. doi: 10.1186/gm521. eCollection 2014. No abstract available.

PMID:
24456652
[PubMed]
15.

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.

PMID:
24123876
[PubMed - indexed for MEDLINE]
16.

A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases.

Neveling K, Feenstra I, Gilissen C, Hoefsloot LH, Kamsteeg EJ, Mensenkamp AR, Rodenburg RJ, Yntema HG, Spruijt L, Vermeer S, Rinne T, van Gassen KL, Bodmer D, Lugtenberg D, de Reuver R, Buijsman W, Derks RC, Wieskamp N, van den Heuvel B, Ligtenberg MJ, Kremer H, Koolen DA, van de Warrenburg BP, Cremers FP, Marcelis CL, Smeitink JA, Wortmann SB, van Zelst-Stams WA, Veltman JA, Brunner HG, Scheffer H, Nelen MR.

Hum Mutat. 2013 Dec;34(12):1721-6. doi: 10.1002/humu.22450. Epub 2013 Oct 18.

PMID:
24123792
[PubMed - indexed for MEDLINE]
17.

Pathogenic or not? Assessing the clinical relevance of copy number variants.

Hehir-Kwa JY, Pfundt R, Veltman JA, de Leeuw N.

Clin Genet. 2013 Nov;84(5):415-21. doi: 10.1111/cge.12242. Epub 2013 Aug 21. Review.

PMID:
23895381
[PubMed - indexed for MEDLINE]
18.

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
[PubMed - indexed for MEDLINE]
19.

Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome.

Nikolaev SI, Santoni F, Vannier A, Falconnet E, Giarin E, Basso G, Hoischen A, Veltman JA, Groet J, Nizetic D, Antonarakis SE.

Blood. 2013 Jul 25;122(4):554-61. doi: 10.1182/blood-2013-03-491936. Epub 2013 Jun 3.

PMID:
23733339
[PubMed - indexed for MEDLINE]
Free Article
20.

ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature.

Collin RW, Nikopoulos K, Dona M, Gilissen C, Hoischen A, Boonstra FN, Poulter JA, Kondo H, Berger W, Toomes C, Tahira T, Mohn LR, Blokland EA, Hetterschijt L, Ali M, Groothuismink JM, Duijkers L, Inglehearn CF, Sollfrank L, Strom TM, Uchio E, van Nouhuys CE, Kremer H, Veltman JA, van Wijk E, Cremers FP.

Proc Natl Acad Sci U S A. 2013 Jun 11;110(24):9856-61. doi: 10.1073/pnas.1220864110. Epub 2013 May 28.

PMID:
23716654
[PubMed - indexed for MEDLINE]
Free PMC Article

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