Publications 2016

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. Lelieveld SH, Reijnders MR, Pfundt R, Yntema HG, Kamsteeg EJ, de Vries P, de Vries BB, Willemsen MH, Kleefstra T, Löhner K, Vreeburg M, Stevens SJ, van der Burgt I, Bongers EM, Stegmann AP, Rump P, Rinne T, Nelen MR, Veltman JA, Vissers LE, Brunner HG, Gilissen C.
Nat Neurosci. 2016 Aug 1. doi: 10.1038/nn.4352. [Epub ahead of print]


Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability. Riazuddin S, Hussain M, Razzaq A, Iqbal Z, Shahzad M, Polla DL, Song Y, van Beusekom E, Khan AA, Tomas-Roca L, Rashid M, Zahoor MY, Wissink-Lindhout WM, Basra MA, Ansar M, Agha Z, van Heeswijk K, Rasheed F, Van de Vorst M, Veltman JA, Gilissen C, Akram J, Kleefstra T, Assir MZ; UK10K, Grozeva D, Carss K, Raymond FL, O'Connor TD, Riazuddin SA, Khan SN, Ahmed ZM, de Brouwer AP, van Bokhoven H, Riazuddin S.
Mol Psychiatry. 2016 Jul 26. doi: 10.1038/mp.2016.109. [Epub ahead of print]


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]


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.


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.


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.


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]


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.


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.


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.


De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations. Reijnders MR, Zachariadis V, Latour B, Jolly L, Mancini GM, Pfundt R, Wu KM, van Ravenswaaij-Arts CM, Veenstra-Knol HE, Anderlid BM, Wood SA, Cheung SW, Barnicoat A, Probst F, Magoulas P, Brooks AS, Malmgren H, Harila-Saari A, Marcelis CM, Vreeburg M, Hobson E, Sutton VR, Stark Z, Vogt J, Cooper N, Lim JY, Price S, Lai AH, Domingo D, Reversade B; DDD Study, Gecz J, Gilissen C, Brunner HG, Kini U, Roepman R, Nordgren A, Kleefstra T.
Am J Hum Genet. 2016 Feb 4;98(2):373-81. doi: 10.1016/j.ajhg.2015.12.015. Epub 2016 Jan 28.


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.


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.


Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa. Perez-Carro R, Corton M, Sánchez-Navarro I, Zurita O, Sanchez-Bolivar N, Sánchez-Alcudia R, Lelieveld SH, Aller E, Lopez-Martinez MA, López-Molina MI, Fernandez-San Jose P, Blanco-Kelly F, Riveiro-Alvarez R, Gilissen C, Millan JM, Avila-Fernandez A, Ayuso C.
Sci Rep. 2016 Jan 25;6:19531. doi: 10.1038/srep19531.


Validation of two-channel sequencing-by-synthesis for noninvasive prenatal testing of fetal whole and partial chromosome aberrations. Neveling K, Tjwan Thung D, Beulen L, van Rens-Buijsman W, Gomes I, van den Heuvel S, Mieloo H, Derks-Prinsen I, Kater-Baats E, Faas BH.
Prenat Diagn. 2016 Jan 15. doi: 10.1002/pd.4777. [Epub ahead of print]


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]


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]