جوريس أندريه ڤلتمان الإنتاج العلمي
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. ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation. Nature Communications 2016, 7, 11600.
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. Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. Nature Neuroscience 2016, 19, 1194-1196.
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. Parent-of-origin-specific signatures of de novo mutations. Nature Genetics 2016, 48, 935-939.
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. TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation. American Journal of Human Genetics 2016, 98, 322-330.
Acuna-Hidalgo R, Bo T, Kwint MP, van de Vorst M, Pinelli M, Veltman JA, Hoischen A, Vissers LE, Gilissen C. Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation. American Journal of Human Genetics 2015, 97, 67-74.
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. Genome sequencing identifies major causes of severe intellectual disability. Nature 2014, 511, 344-347.
Thung D, de Ligt J, Vissers L, Steehouwer M, Kroon M, de Vries P, Slagboom EP, Ye K, Veltman JA, Hehir-Kwa JY. Mobster: accurate detection of mobile element insertions in next generation sequencing data. Genome Biology 2014, 15, 488.
Smeekens SP, Plantinga TS, van de Veerdonk FL, Heinhuis B, Hoischen A, Joosten LAB, Arkwright PD, Gennery A, Kullberg BJ, Veltman JA, Lilic D, van der Meer JWM, Netea MG. STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant Chronic Mucocutaneous Candidiasis. PLoS One 2011, 6(12), e29248.
van de Veerdonk FL, Plantinga TA, Hoischen A, Smeekens SP, Joosten LAB, Gilissen C, Arts P, Rosentul DC, Carmichael AJ, van der Graaf CAA, Kullberg BJ, van der Meer JWM, Lilic D, Veltman JA, Netea MG. STAT1 Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis. New England Journal of Medicine 2011, 365, 54-61.
Hoischen A, van Bon BWM, Rodriguez-Santiago B, Gilissen C, Vissers LELM, de Vries P, Janssen I, van Lier B, Hastings R, Smithson SF, Newbury-Ecob R, Kjaergaard S, Goodship J, McGowan R, Bartholdi D, Rauch A, Peippo M, Cobben JM, Wieczorek D, Gillessen-Kaesbach G, Veltman JA, Brunner HG, de Vries BBBA. De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. NATURE GENETICS 2011, 43(8), 729-731.
Hoischen A, Van Bon B, Gilissen C, Arts P, Van Lier B, Steehouwer M, De Vries P, De Reuver R, Wieskamp N, Mortier G, Devriendt K, Amorim M, Revencu N, Kidd A, Barbosa M, Turner A, Smith J, Oley C, Henderson A, Hayes I, Thompson E, Brunner H, De Vries B, Veltman J. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nature Genetics 2010, 42(6), 483-485.
Vermeer S, Hoischen A, Meijer RPP, Gilissen C, Neveling K, Wieskamp N, de Brouwer A, Koenig M, Anheim M, Assoum M, Drouot N, Todorovic S, Milic-Rasic V, Lochmuller H, Stevanin G, Goizet C, David A, Durr A, Brice A, Kremer B, van de Warrenburg BPC, Schijvenaars MMVAP, Heister A, Kwint M, Arts P, van der Wijst J, Veltman J, Kamsteeg EJ, Scheffer H, Knoers N. Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia. American Journal of Human Genetics 2010, 87(6), 813-819.
Lugtenberg D, de Brouwer APM, Kleefstra T, Oudakker AR, Frints SGM, Schrander-Stumpel CTRM, Fryns JP, Jensen LR, Chelly J, Moraine C, Turner G, Veltman JA, Hamel BCJ, de Vries BBA, van Bokhoven H, Yntema HG. Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. Journal of Medical Genetics 2006, 43(4), 362-370