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Items: 1 to 20 of 186

1.

Parent-of-origin-specific signatures of de novo mutations.

Goldmann JM, Wong WS, Pinelli M, Farrah T, Bodian D, Stittrich AB, Glusman G, Vissers LE, Hoischen A, Roach JC, Vockley JG, Veltman JA, Solomon BD, Gilissen C, Niederhuber JE.

Nat Genet. 2016 Jun 20. doi: 10.1038/ng.3597. [Epub ahead of print]

PMID:
27322544
2.

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation.

Jansen EJ, Timal S, Ryan M, Ashikov A, van Scherpenzeel M, Graham LA, Mandel H, Hoischen A, Iancu TC, Raymond K, Steenbergen G, Gilissen C, Huijben K, van Bakel NH, Maeda Y, Rodenburg RJ, Adamowicz M, Crushell E, Koenen H, Adams D, Vodopiutz J, Greber-Platzer S, Müller T, Dueckers G, Morava E, Sykut-Cegielska J, Martens GJ, Wevers RA, Niehues T, Huynen MA, Veltman JA, Stevens TH, Lefeber DJ.

Nat Commun. 2016 May 27;7:11600. doi: 10.1038/ncomms11600.

3.

Different Balance of Wnt Signaling in Adult and Fetal Bone Marrow-Derived Mesenchymal Stromal Cells.

Paciejewska MM, Maijenburg MW, Gilissen C, Kleijer M, Vermeul K, Weijer K, Veltman JA, von Lindern M, van der Schoot CE, Voermans C.

Stem Cells Dev. 2016 Jun 15;25(12):934-47. doi: 10.1089/scd.2015.0263.

PMID:
27154244
4.

Immunologic defects in severe mucocutaneous HSV-2 infections: Response to IFN-γ therapy.

Arts P, van de Veerdonk FL, van der Lee R, Langereis MA, Gilissen C, van Zelst-Stams WA, Huynen MA, van der Meer JW, van Kuppeveld FJ, Veltman JA, Kullberg BJ, Hoischen A, Netea MG.

J Allergy Clin Immunol. 2016 Apr 7. pii: S0091-6749(16)30019-7. doi: 10.1016/j.jaci.2016.02.025. [Epub ahead of print] No abstract available.

PMID:
27132219
5.

Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases.

Krabbenborg L, Vissers LE, Schieving J, Kleefstra T, Kamsteeg EJ, Veltman JA, Willemsen MA, Van der Burg S.

J Genet Couns. 2016 Apr 20. [Epub ahead of print]

PMID:
27098417
6.

Novel bioinformatic developments for exome sequencing.

Lelieveld SH, Veltman JA, Gilissen C.

Hum Genet. 2016 Jun;135(6):603-14. doi: 10.1007/s00439-016-1658-6. Epub 2016 Apr 13. Review.

7.

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.

Jansen JC, Cirak S, van Scherpenzeel M, Timal S, Reunert J, Rust S, Pérez B, Vicogne D, Krawitz P, Wada Y, Ashikov A, Pérez-Cerdá C, Medrano C, Arnoldy A, Hoischen A, Huijben K, Steenbergen G, Quelhas D, Diogo L, Rymen D, Jaeken J, Guffon N, Cheillan D, van den Heuvel LP, Maeda Y, Kaiser O, Schara U, Gerner P, van den Boogert MA, Holleboom AG, Nassogne MC, Sokal E, Salomon J, van den Bogaart G, Drenth JP, Huynen MA, Veltman JA, Wevers RA, Morava E, Matthijs G, Foulquier F, Marquardt T, Lefeber DJ.

Am J Hum Genet. 2016 Feb 4;98(2):310-21. doi: 10.1016/j.ajhg.2015.12.010. Epub 2016 Jan 28.

PMID:
26833332
8.

TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.

Jansen JC, Timal S, van Scherpenzeel M, Michelakakis H, Vicogne D, Ashikov A, Moraitou M, Hoischen A, Huijben K, Steenbergen G, van den Boogert MA, Porta F, Calvo PL, Mavrikou M, Cenacchi G, van den Bogaart G, Salomon J, Holleboom AG, Rodenburg RJ, Drenth JP, Huynen MA, Wevers RA, Morava E, Foulquier F, Veltman JA, Lefeber DJ.

Am J Hum Genet. 2016 Feb 4;98(2):322-30. doi: 10.1016/j.ajhg.2015.12.011. Epub 2016 Jan 28.

PMID:
26833330
9.

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.

Lugtenberg D, Reijnders MR, Fenckova M, Bijlsma EK, Bernier R, van Bon BW, Smeets E, Vulto-van Silfhout AT, Bosch D, Eichler EE, Mefford HC, Carvill GL, Bongers EM, Schuurs-Hoeijmakers JH, Ruivenkamp CA, Santen GW, van den Maagdenberg AM, Peeters-Scholte CM, Kuenen S, Verstreken P, Pfundt R, Yntema HG, de Vries PF, Veltman JA, Hoischen A, Gilissen C, de Vries BB, Schenck A, Kleefstra T, Vissers LE.

Eur J Hum Genet. 2016 Jan 13. doi: 10.1038/ejhg.2015.282. [Epub ahead of print]

PMID:
26757981
10.

De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy resistant epilepsy in females: expanding the phenotypic spectrum.

Jansen S, Kleefstra T, Willemsen MH, de Vries P, Pfundt R, Hehir-Kwa JY, Gilissen C, Veltman JA, de Vries BB, Vissers LE.

Clin Genet. 2016 Jan 11. doi: 10.1111/cge.12729. [Epub ahead of print]

PMID:
26752331
11.

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.

PMID:
26721934
12.

Influence of paternal age on ongoing pregnancy rate at eight weeks' gestation in assisted reproduction.

Meijerink AM, Ramos L, Fleischer K, Veltman JA, Hendriks JC, Braat DD.

Reprod Biomed Online. 2016 Jan;32(1):96-103. doi: 10.1016/j.rbmo.2015.09.017. Epub 2015 Oct 22.

PMID:
26615900
13.

Standardized phenotyping enhances Mendelian disease gene identification.

Vissers LE, Veltman JA.

Nat Genet. 2015 Nov;47(11):1222-4. doi: 10.1038/ng.3425.

PMID:
26506899
14.

Genetic studies in intellectual disability and related disorders.

Vissers LE, Gilissen C, Veltman JA.

Nat Rev Genet. 2016 Jan;17(1):9-18. doi: 10.1038/nrg3999. Epub 2015 Oct 27. Review.

PMID:
26503795
15.

Cell-Free RNA Is a Reliable Fetoplacental Marker in Noninvasive Fetal Sex Determination.

Mersy E, Faas BH, Spierts S, Houben LM, Macville MV, Frints SG, Paulussen AD, Veltman JA.

Clin Chem. 2015 Dec;61(12):1515-23. doi: 10.1373/clinchem.2015.244962. Epub 2015 Oct 14.

PMID:
26467504
16.

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.

17.

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.

18.

From genes to genomes in the clinic.

Veltman JA, Lupski JR.

Genome Med. 2015 Jul 29;7(1):78. doi: 10.1186/s13073-015-0200-0. eCollection 2015.

19.

Advantages and Disadvantages of Different Implementation Strategies of Non-Invasive Prenatal Testing in Down Syndrome Screening Programmes.

Mersy E, de Die-Smulders CE, Coumans AB, Smits LJ, de Wert GM, Frints SG, Veltman JA.

Public Health Genomics. 2015;18(5):260-71. doi: 10.1159/000435780. Epub 2015 Jul 18.

PMID:
26202817
20.

Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration.

Iqbal Z, Püttmann L, Musante L, Razzaq A, Zahoor MY, Hu H, Wienker TF, Garshasbi M, Fattahi Z, Gilissen C, Vissers LE, de Brouwer AP, Veltman JA, Pfundt R, Najmabadi H, Ropers HH, Riazuddin S, Kahrizi K, van Bokhoven H.

Eur J Hum Genet. 2016 Mar;24(3):392-9. doi: 10.1038/ejhg.2015.148. Epub 2015 Jul 15.

PMID:
26173967
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