Browsing by Author "Veltman, J.A."

Now showing items 1-50 of 210

Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2
Lipinski, Simone; Petersen, Britt-Sabina; Barann, Matthias; Piecyk, Agnes; Tran, Florian; Mayr, Gabriele; Gilissen, C.F. ; Veltman, J.A. ; Franke, Andre; Rosenstiel, Philip
2019, Article / Letter to editor (Cold Spring Harbor Molecular Case Studies, vol. 5, iss. 1, (2019), article a002428)
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms
Jansen, S; Werf, I. van der; Innes, A. Micheil; Afenjar, A.; Agrawal, Pankaj B.; Anderson, I.J.; Munnik, Sonja A. de ; Ockeloen, C.W.; Rinne, T.K. ; Vries, P.F. de ; Pfundt, R.P. ; Veltman, J.A. ; Vissers, L.E.L.M. ; Vries, B.B.A. de et al. sine al.
2019, Article / Letter to editor (European Journal of Human Genetics, vol. 27, iss. 5, (2019), pp. 738-746)
A systematic review and standardized clinical validity assessment of male infertility genes
Oud, M.S. ; Volozonoka, L.; Smits, R.M.; Vissers, L.E.L.M. ; Ramos, L. ; Veltman, J.A.
2019, Article / Letter to editor (Human Reproduction, vol. 34, iss. 5, (2019), pp. 932-941)
The role of de novo mutations in adult-onset neurodegenerative disorders
Nicolas, G.; Veltman, J.A.
2019, Article / Letter to editor (Acta Neuropathologica, vol. 137, iss. 2, (2019), pp. 183-207)
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies
Arts, P.; Simons, A. ; AlZahrani, M.S.; Yilmaz, Elanur; AlIdrissi, E.; Aerde, K.J. van; Alenezi, N.; AlGhamdi, H.A.; AlJubab, H.A.; Al-Hussaini, A.A.; AlManjomi, F.; Alsaad, A.B.; Alsaleem, B.; Andijani, A.A.; Asery, A.; Ballourah, W.; Bleeker-Rovers, C.P. ; Deuren, M. van ; Flier, M. van der ; Gerkes, E.H.; Gilissen, C. ; Habazi, M.K.; Hehir-Kwa, J.Y. ; Henriet, S.S. ; Hoppenreijs, E.P.A.H. ; Hortillosa, S.; Kerkhofs, C.H.; Keski-Filppula, R.; Lelieveld, S.H.; Lone, K.; MacKenzie, M.A. ; Mensenkamp, A.R. ; Moilanen, J.; Nelen, M.R. ; Oever, J. ten ; Potjewijd, J.; Paassen, P. van; Schuurs-Hoeijmakers, J.H.M. ; Simon, A. ; Stokowy, T.; Vorst, J.M. van de; Vreeburg, M.; Wagner, A.; Well, G.T. van; Zafeiropoulou, D.; Zonneveld-Huijssoon, E.; Veltman, J.A. ; Zelst-Stams, W.A.G. van; Faqeih, E.A.; Veerdonk, F.L. van de ; Netea, M.G. ; Hoischen, A. et al. sine al.
2019, Article / Letter to editor (Genome Medicine, vol. 11, iss. 1, (2019), pp. 38)
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies
Arts, P.; Simons, A. ; AlZahrani, Mofareh S.; Yilmaz, Elanur; AlIdrissi, Eman; Aerde, K.J. van; Bleeker-Rovers, C.P. ; Deuren, M. van ; Flier, M. van der ; Gilissen, C. ; Hehir-Kwa, J.Y. ; Henriet, S.S. ; Hoppenreijs, E.P. ; MacKenzie, M.A. ; Mensenkamp, A.R. ; Nelen, M.R. ; Oever, J. ten ; Schuurs-Hoeijmakers, J.H.M. ; Simon, A. ; Vorst, M. van de; Veltman, J.A. ; Zelst-Stams, W.A.G. van; Veerdonk, F.L. van de ; Netea, M.G. ; Hoischen, A. et al. sine al.
2019, Article / Letter to editor (Genome Medicine, vol. 11, iss. 1, (2019), article 38)
A systems genomics approach identifies SIGLEC15 as a susceptibility factor in recurrent vulvovaginal candidiasis
Jaeger, M.; Pinelli, M.; Borghi, M.; Constantini, C.; Dindo, M.; Emst, L. van ; Büll, C.; Gresnigt, M.S.; Jacobs, C.W.M. ; Oosting, M. ; Arts, P.; Joosten, L.A.B. ; Veerdonk, F.L. van de ; Veltman, J.A. ; Oever, J. ten ; Kullberg, B.J. ; Adema, G.J. ; Kumar, V.; Gilissen, C. ; Romani, L.; Netea, M.G. et al. sine al.
2019, Article / Letter to editor (Science Translational Medicine, vol. 11, iss. 496, (2019), article eaar3558)
MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains
Wiel, L.J.M. van de; Baakman, C.A.B.; Gilissen, Daan; Veltman, J.A. ; Vriend, G. ; Gilissen, C.
2019, Article / Letter to editor (Human Mutation, vol. 40, iss. 8, (2019), pp. 1030-1038)
Estimation of minimal disease prevalence from population genomic data: Application to primary familial brain calcification
Nicolas, Gael; Charbonnier, Camille; Campion, Dominique; Veltman, J.A.
2018, Article / Letter to editor (American Journal of Medical Genetics. Part B : Neuropsychiatric Genetics, vol. 177, iss. 1, (2018), pp. 68-74)
Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidence
Goldmann, J.M.; Seplyarskiy, Vladimir B.; Wong, W.S.; Vilboux, Thierry; Neerincx, Pieter B.; Bodian, D.; Veltman, J.A. ; Gilissen, Christian ; Niederhuber, J.E.
2018, Article / Letter to editor (Nature Genetics, vol. 50, iss. 4, (2018), pp. 487-+)
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency
Jansen, S; Hoischen, A. ; Coe, B.P.; Carvill, G.L.; Esch, H. Van; Bosch, D.G.M.; Bon, B.W. van ; Claahsen-van der Grinten, H.L. ; Gilissen, C.F. ; Kleefstra, T. ; Koolen, D.A. ; Marcelis, C.L. ; Schuurs-Hoeijmakers, J.H. ; Pfundt, R.P. ; Steehouwer, M. ; Vries, P.F. de ; Veltman, J.A. ; Brunner, H.G. ; Vissers, L.E.L.M. ; Eichler, E.E.; Vries, B.B.A. de et al. sine al.
2018, Article / Letter to editor (European Journal of Human Genetics, vol. 26, iss. 1, (2018), pp. 54-63)
Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease
Nicolas, Gael; Acuna Hidalgo, R.; Keogh, Michael J.; Quenez, Olivier; Steehouwer, M. ; Lelieveld, S.H.; Oud, M.S. ; Gilissen, C. ; Veltman, J.A. ; Hoischen, A.
2018, Article / Letter to editor (Alzheimer's & Dementia, vol. 14, iss. 12, (2018), pp. 1632-1639)
Pathogenic variants in glutamyl-tRNA(Gln) amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder
Friederich, Marisa W.; Timal, S. ; Powell, Christopher A.; Dallabona, Cristina; Kurolap, Alina; Palacios-Zambrano, Sara; Lefeber, D.J. ; Pruijn, G. ; Smeitink, J.A.M. ; Veltman, J.A. ; Rodenburg, R.J.T. ; Hove, Johan L.K. Van et al. sine al.
2018, Article / Letter to editor (Nature Communications, vol. 9, (2018), article 4065)
Copy Number Variation in Syndromic Forms of Psychiatric Illness: The Emerging Value of Clinical Genetic Testing in Psychiatry
Bouwkamp, Christian G.; Kievit, Anneke J.A.; Markx, S.; Friedman, J.; Zutven, Laura van; Minkelen, Rick van; Veltman, J.A. ; Bonifati, Vincenzo; Kushner, Steven A.
2017, Article / Letter to editor (American Journal of Psychiatry, vol. 174, iss. 11, (2017), pp. 1036-1050)
Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome
Willemsen, M.A.A.P. ; Vissers, L.E.L.M. ; Verbeek, M.M. ; Bon, B.W.M. van ; Geuer, S.; Gilissen, C.F. ; Klepper, J.; Kwint, M.P.; Leen, W.G. ; Pennings, M.; Wevers, R.A. ; Veltman, J.A. ; Kamsteeg, E.J. et al. sine al.
2017, Article / Letter to editor (European Journal of Human Genetics, vol. 25, iss. 6, (2017), pp. 771-774)
Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes
Lelieveld, S.H.; Wiel, L.J.M. van de; Venselaar, H. ; Pfundt, R.P. ; Vriend, G. ; Veltman, J.A. ; Brunner, H.G. ; Vissers, L.E.L.M. ; Gilissen, C.F.
2017, Article / Letter to editor (American Journal of Human Genetics, vol. 101, iss. 3, (2017), pp. 478-484)
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome
Jansen, S; Geuer, S.; Pfundt, R.P. ; Brough, R.; Ghongane, P.; Herkert, J.C.; Marco, E.J.; Willemsen, M.H. ; Kleefstra, T. ; Hannibal, M.; Shieh, J.T.; Lynch, S.A.; Flinter, F.; FitzPatrick, D.R.; Gardham, A.; Bernhard, B.; Ragge, N.; Newbury-Ecob, R.; Bernier, R.; Kvarnung, M.; Magnusson, E.A.; Wessels, M.W.; Slegtenhorst, M.A. van; Monaghan, K.G.; Vries, P.F. de ; Veltman, J.A. ; Lord, C.J.; Vissers, L.E.L.M. ; Vries, B.B. de et al. sine al.
2017, Article / Letter to editor (American Journal of Human Genetics, vol. 100, iss. 4, (2017), pp. 650-658)
A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology
Vissers, L.E.L.M. ; Nimwegen, K.J.M. van; Schieving, J.H. ; Kamsteeg, E.J. ; Kleefstra, T. ; Yntema, H.G. ; Pfundt, R.P. ; Wilt, G.J. van der ; Krabbenborg, L.; Brunner, H.G. ; Burg, S. van der; Grutters, J.P.; Veltman, J.A. ; Willemsen, M.A.A.P. et al. sine al.
2017, Article / Letter to editor (Genetics in Medicine, vol. 19, iss. 9, (2017), pp. 1055-1063)
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders
Pfundt, R.P. ; Rosario, M. del; Vissers, L.E.L.M. ; Kwint, M.P.; Janssen, I.M. ; Leeuw, N. de ; Yntema, H.G. ; Nelen, M.R. ; Lugtenberg, D. ; Kamsteeg, E.J. ; Wieskamp, N.A. ; Stegmann, A.P.; Stevens, S.J.; Rodenburg, R.J.T. ; Simons, A. ; Mensenkamp, A.R. ; Rinne, T.K. ; Gilissen, C.F. ; Scheffer, H. ; Veltman, J.A. ; Hehir-Kwa, J.Y. et al. sine al.
2017, Article / Letter to editor (Genetics in Medicine, vol. 19, iss. 6, (2017), pp. 667-675)
Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life
Acuna Hidalgo, R.; Sengul, H.; Steehouwer, M. ; Vorst, M. van de; Vermeulen, S.H. ; Kiemeney, B. ; Veltman, J.A. ; Gilissen, C.F. ; Hoischen, A.
2017, Article / Letter to editor (American Journal of Human Genetics, vol. 101, iss. 1, (2017), pp. 50-64)
Rare NOX3 Variants Confer Susceptibility to Agranulocytosis During Thyrostatic Treatment of Graves' Disease
Plantinga, T.S. ; Arts, P.; Knarren, G.H.; Mulder, A.H.; Wakelkamp, I.M.; Hermus, A.R.M.M. ; Joosten, L.A. ; Netea, M.G. ; Gilissen, C.F. ; Veltman, J.A. ; Hoischen, A. ; Smit, J.W. ; Netea-Maier, R.T. et al. sine al.
2017, Article / Letter to editor (Clinical Pharmacology and Therapeutics, vol. 102, iss. 6, (2017), pp. 1017-1024)
Aggregation of population-based genetic variation over protein domain homologues and its potential use in genetic diagnostics
Wiel, L.J.M. van de; Venselaar, H. ; Veltman, J.A. ; Vriend, G. ; Gilissen, C.
2017, Article / Letter to editor (Human Mutation, vol. 38, iss. 11, (2017), pp. 1454-1463)
MST1R mutation as a genetic cause of Lady Windermere syndrome
Becker, K.L. ; Arts, P.; Jaeger, M.; Plantinga, T.S. ; Gilissen, C.F. ; Laarhoven, A. van; Ingen, J. van ; Veltman, J.A. ; Joosten, L.A.B. ; Hoischen, A. ; Netea, M.G. ; Iseman, M.D.; Chan, E.D.; Veerdonk, F.L. van de et al. sine al.
2017, Article / Letter to editor (European Respiratory Journal, vol. 49, iss. 1, (2017), article 1601478)
Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia
Oud, M.S. ; Ramos, L. ; O'Bryan, M.K.; McLachlan, R.I.; Okutman, O.; Viville, S.; Vries, P.F. de ; Smeets, D.F.C.M. ; Lugtenberg, D. ; Hehir, J.Y. ; Gilissen, C. ; Vorst, M. van de; Vissers, L.E.L.M. ; Hoischen, A. ; Meijerink, A.M.; Fleischer, K.; Veltman, J.A. ; Noordam, M.J. et al. sine al.
2017, Article / Letter to editor (Human Mutation, vol. 38, iss. 11, (2017), pp. 1592-1605)
Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment
Chen, X.S.; Reader, R.H.; Hoischen, A. ; Veltman, J.A. ; Simpson, N.H.; Francks, C.; Newbury, D.F.; Fisher, S.E.
2017, Article / Letter to editor (Scientific Reports, vol. 7, (2017), article 46105)
Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy
Wortmann, S.B.; Timal, S.; Venselaar, H. ; Wintjes, L.T.; Kopajtich, R.; Feichtinger, R.G.; Onnekink, C.; Mühlmeister, M.; Brandt, U.; Smeitink, J.A.M. ; Veltman, J.A. ; Sperl, W.; Lefeber, D.J. ; Pruijn, G. ; Stojanovic, V.; Freisinger, P.; Spronsen, F. van; Derks, T.G.; Veenstra-Knol, H.E.; Mayr, J.A.; Rötig, A.; Tarnopolsky, M.; Prokisch, H.; Rodenburg, R.J.T. et al. sine al.
2017, Article / Letter to editor (Human Mutation, vol. 38, iss. 12, (2017), pp. 1786-1795)
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies
Acuna Hidalgo, R.; Deriziotis, P.; Steehouwer, M. ; Gilissen, C.F. ; Graham, S.A.; Dam, S van; Hoover-Fong, J.; Telegrafi, A.B.; Destree, A.; Smigiel, R.; Lambie, L.A.; Kayserili, H.; Altunoglu, U.; Lapi, E.; Uzielli, M.L.; Aracena, M.; Nur, B.G.; Mihci, E.; Moreira, L.M.; Borges Ferreira, V.; Horovitz, D.D.; Rocha, K.M.; Jezela-Stanek, A.; Brooks, A.S.; Reutter, H.; Cohen, J.S.; Fatemi, A.; Smitka, M.; Grebe, T.A.; Donato, N. Di; Deshpande, C.; Vandersteen, A.; Lourenco, C.; Dufke, A.; Rossier, E.; Andre, G.; Baumer, A.; Spencer, C.; McGaughran, J.; Franke, L.; Veltman, J.A. ; Vries, B.B. de ; Schinzel, A.; Fisher, S.E. ; Hoischen, A. ; Bon, B.W.M. van et al. sine al.
2017, Article / Letter to editor (Plos Genetics, vol. 13, iss. 3, (2017), article e1006683)
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, D.L.; Song, Y.; Beusekom, E. van ; Tomas-Roca, L.; Zahoor, M.Y.; Wissink, W.M.; Basra, M.A.R.; Ansar, M.; Agha, Z.; Heeswijk, K. van; Rasheed, F.; Vorst, M. van de; Veltman, J.A. ; Gilissen, C. ; Akram, J.; Kleefstra, T. ; Assir, M.Z.; Riazuddin, S.A.; Ahmed, Z.M.; Brouwer, A.P.M. de ; Bokhoven, H. van et al. sine al.
2017, Article / Letter to editor (Molecular Psychiatry, vol. 22, iss. 11, (2017), pp. 1604-1614)
Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases
Krabbenborg, L.; Vissers, L.E.L.M. ; Schieving, J.H. ; Kleefstra, T. ; Kamsteeg, E.J. ; Veltman, J.A. ; Willemsen, M.A. ; Burg, S. van der
2016, Article / Letter to editor (Journal of Genetic Counseling, vol. 25, iss. 6, (2016), pp. 1207-1214)
Influence of paternal age on ongoing pregnancy rate at eight weeks' gestation in assisted reproduction
Meijerink, A.M.; Ramos, L. ; Fleischer, K.; Veltman, J.A. ; Hendriks, J.C. ; Braat, D.D.
2016, Article / Letter to editor (Reproductive Biomedicine Online, vol. 32, iss. 1, (2016), pp. 96-103)
Genetic studies in intellectual disability and related disorders
Vissers, L.E. ; Gilissen, C.F. ; Veltman, J.A.
2016, Article / Letter to editor (Nature Reviews Genetics, vol. 17, iss. 1, (2016), pp. 9-18)
Evaluating a counselling strategy for diagnostic WES in paediatric neurology: an exploration of parents' information and communication needs
Krabbenborg, L.; Schieving, J.H. ; Kleefstra, T. ; Vissers, L.E. ; Willemsen, M.A. ; Veltman, J.A. ; Burg, S. van der
2016, Article / Letter to editor (Clinical Genetics, vol. 89, iss. 2, (2016), pp. 244-250)
Novel bioinformatic developments for exome sequencing
Lelieveld, S.H.; Veltman, J.A. ; Gilissen, C.F.
2016, Article / Letter to editor (Human Genetics, vol. 135, iss. 6, (2016), pp. 603-614)
Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration
Iqbal, Z.; Puttmann, L.; Musante, L.; Razzaq, A.; Zahoor, M.Y.; Hu, H; Wienker, T.F.; Garshasbi, M.; Fattahi, Z.; Gilissen, C.; Vissers, L.E. ; Brouwer, A.P. de ; Veltman, J.A. ; Pfundt, R.P. ; Najmabadi, H.; Ropers, H.H.; Riazuddin, S.; Kahrizi, K.; Bokhoven, H. van et al. sine al.
2016, Article / Letter to editor (European Journal of Human Genetics, vol. 24, iss. 3, (2016), pp. 392-399)
Different Balance of Wnt Signaling in Adult and Fetal Bone Marrow-Derived Mesenchymal Stromal Cells
Paciejewska, M.M.; Maijenburg, M.W.; Gilissen, C.; Kleijer, M.; Vermeul, K.; Weijer, K.; Veltman, J.A. ; Lindern, M. von; Schoot, C.E. van der; Voermans, C.
2016, Article / Letter to editor (Stem Cells and Development, vol. 25, iss. 12, (2016), pp. 934-947)
Parent-of-origin-specific signatures of de novo mutations
Goldmann, J.M.; Wong, W.S.; Pinelli, M.; Farrah, T.; Bodian, D.; Stittrich, A.B.; Glusman, G.; Vissers, L.E.L.M. ; Hoischen, A. ; Roach, J.C.; Vockley, J.G.; Veltman, J.A. ; Solomon, B.D.; Gilissen, C.F. ; Niederhuber, J.E. et al. sine al.
2016, Article / Letter to editor (Nature Genetics, vol. 48, iss. 8, (2016), pp. 935-939)
LRP5 variants may contribute to ADPKD
Cnossen, W.R.; Morsche, R.H. te ; Hoischen, A. ; Gilissen, C.F. ; Venselaar, H. ; Mehdi, S.; Bergmann, C.; Losekoot, M.; Breuning, M.H.; Peters, D.J.; Veltman, J.A. ; Drenth, J.P. et al. sine al.
2016, Article / Letter to editor (European Journal of Human Genetics, vol. 24, iss. 2, (2016), pp. 237-242)
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, M.H. ; Vries, P. de; Pfundt, R.; Hehir-Kwa, J.Y. ; Gilissen, C.; Veltman, J.A. ; Vries, B.B. de ; Vissers, L.E.
2016, Article / Letter to editor (Clinical Genetics, vol. 90, iss. 5, (2016), pp. 413-419)
New insights into the generation and role of de novo mutations in health and disease
Acuna Hidalgo, R.; Veltman, J.A. ; Hoischen, A.
2016, Article / Letter to editor (Genome Biology, vol. 17, iss. 1, (2016), pp. 241)
Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes
Wills, E.S.; Cnossen, W.R.; Veltman, J.A. ; Woestenenk, R.M. ; Steehouwer, M. ; Salomon, J.; Morsche, R.H.M. te ; Huch, M.; Hehir-Kwa, J.Y. ; Banning, M.J.; Pfundt, R.P. ; Roepman, R. ; Hoischen, A. ; Drenth, J.P.H. et al. sine al.
2016, Article / Letter to editor (European Journal of Human Genetics, vol. 24, iss. 12, (2016), pp. 1707-1714)
Is the $1000 Genome as Near as We Think? A Cost Analysis of Next-Generation Sequencing
Nimwegen, K.J.M. van; Soest, R.A.; Veltman, J.A. ; Nelen, M.R. ; Wilt, G.J. van der ; Peart-Vissers, L.E.L.M. ; Grutters, J.P.C.
2016, Article / Letter to editor (Clinical Chemistry, vol. 62, iss. 11, (2016), pp. 1458-1464)
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability
Lelieveld, S.H.; Reijnders, M.R.F. ; Pfundt, R.P. ; Yntema, H.G. ; Kamsteeg, E.J. ; Vries, P.F. de ; Vries, B.B. de ; Willemsen, M.H. ; Kleefstra, T. ; Lohner, K.; Vreeburg, M.; Stevens, S.J.; Burgt, I. van der ; Bongers, E.M. ; Stegmann, A.P.; Rump, P.; Rinne, T.K. ; Nelen, M.R. ; Veltman, J.A. ; Vissers, L.E. ; Brunner, H.G. ; Gilissen, C.F. et al. sine al.
2016, Article / Letter to editor (Nature Neuroscience, vol. 19, iss. 9, (2016), pp. 1194-1196)
De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila
Lugtenberg, D. ; Reijnders, M.R. ; Fenckova, M. ; Bijlsma, E.K.; Bernier, R.; Bon, B.W. van ; Smeets, E.; Vulto-van Silfhout, A.T. ; Bosch, D.G.M.; Eichler, E.E.; Mefford, H.C.; Carvill, G.L.; Bongers, E.M. ; Schuurs-Hoeijmakers, J.H. ; Ruivenkamp, C.A.; Santen, G.W.; Maagdenberg, A.M. van den; Peeters-Scholte, C.M.; Kuenen, S.; Verstreken, P.; Pfundt, R.P. ; Yntema, H.G. ; Vries, P.F. de ; Veltman, J.A. ; Hoischen, A. ; Gilissen, C.F. ; Vries, B.B. de ; Schenck, A. ; Kleefstra, T. ; Vissers, L.E. et al. sine al.
2016, Article / Letter to editor (European Journal of Human Genetics, vol. 24, iss. 8, (2016), pp. 1145-1153)
TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function
Ba, W.; Yan, Y.; Reijnders, M.R.F. ; Schuurs-Hoeijmakers, J.H.M. ; Feenstra, I. ; Bongers, E.M.H.F. ; Bosch, D.G.M.; Leeuw, N. de ; Pfundt, R.P. ; Gilissen, C.F. ; Vries, P.F. de ; Veltman, J.A. ; Hoischen, A. ; Mefford, H.C.; Eichler, E.E.; Vissers, L.E.L.M. ; Nadif Kasri, N.; Vries, B.B. de et al. sine al.
2016, Article / Letter to editor (Human Molecular Genetics, vol. 25, iss. 5, (2016), pp. 892-902)
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome
Kim, J.H.; Shinde, D.N.; Reijnders, M.R.F. ; Hauser, N.S.; Belmonte, R.L.; Wilson, G.R.; Bosch, D.G.M.; Bubulya, P.A.; Shashi, V.; Petrovski, S.; Stone, J.K.; Park, E.Y.; Veltman, J.A. ; Sinnema, M.; Stumpel, C.T.; Draaisma, J.M. ; Nicolai, J.; Yntema, H.G. ; Lindstrom, K.; Vries, B.B. de ; Jewett, T.; Santoro, S.L.; Vogt, J.; Bachman, K.K.; Seeley, A.H.; Krokosky, A.; Turner, C.; Rohena, L.; Hempel, M.; Kortum, F.; Lessel, D.; Neu, A.; Strom, T.M.; Wieczorek, D.; Bramswig, N.; Laccone, F.A.; Behunova, J.; Rehder, H.; Gordon, C.T.; Rio, M. del; Romana, S.; Tang, S.; El-Khechen, D.; Cho, M.T.; McWalter, K.; Douglas, G.; Baskin, B.; Begtrup, A.; Funari, T.; Schoch, K.; Stegmann, A.P.; Stevens, S.J.; Zhang, D.E.; Traver, D.; Yao, X.; MacArthur, D.G.; Brunner, H.G. ; Mancini, G.M.; Myers, R.M.; Owen, L.B.; Lim, S.T.; Stachura, D.L.; Vissers, L.E.L.M. ; Ahn, E.Y. et al. sine al.
2016, Article / Letter to editor (American Journal of Human Genetics, vol. 99, iss. 3, (2016), pp. 711-719)
Immunologic defects in severe mucocutaneous HSV-2 infections: Response to IFN-gamma therapy
Arts, P.; Veerdonk, F.L. van de ; Lee, R.T.J.G. van der; Langereis, M.A.; Gilissen, C.F. ; Zelst-Stams, W.A.G. van; Huynen, M.A. ; Meer, J.W.M. van der ; Kuppeveld, F.J. van ; Veltman, J.A. ; Kullberg, B.J. ; Hoischen, A. ; Netea, M.G. et al. sine al.
2016, Article / Letter to editor (Journal of Allergy and Clinical Immunology, vol. 138, iss. 3, (2016), pp. 895-898)
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation
Jansen, E.J.R. ; Timal, S. ; Ryan, M.; Ashikov, A.M.; Scherpenzeel, M. van; Graham, L.A.; Mandel, H.; Hoischen, A. ; Iancu, T.C.; Raymond, K.; Steenbergen, G.C. ; Gilissen, C.; Huijben, K.; Bakel, N.H.M. van ; Maeda, Y.; Rodenburg, R.J.T. ; Adamowicz, M.; Crushell, E.; Koenen, H.; Adams, D.; Vodopiutz, J.; Greber-Platzer, S.; Muller, T.; Dueckers, G.; Morava, E.; Sykut-Cegielska, J.; Martens, G.J.M. ; Wevers, R.A. ; Niehues, T.; Huynen, M.A. ; Veltman, J.A. ; Stevens, T.H.; Lefeber, D.J. et al. sine al.
2016, Article / Letter to editor (Nature Communications, vol. 7, (2016), article 11600)
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation
Jansen, J.C.; Cirak, S.; Scherpenzeel, M. van; Timal, S. ; Reunert, J.; Rust, S.; Perez, B.; Vicogne, D.; Krawitz, P.; Wada, Y.; Ashikov, A.M.; Perez-Cerda, C.; Medrano, C.; Arnoldy, A.; Hoischen, A. ; Huijben, K.; Steenbergen, G.; Quelhas, D.; Diogo, L.; Rymen, D.; Jaeken, J.; Guffon, N.; Cheillan, D.; Heuvel, B. van den ; Maeda, Y.; Kaiser, O.; Schara, U.; Gerner, P.; Boogert, M.A. van den; Holleboom, A.G.; Nassogne, M.C.; Sokal, E.; Salomon, J.; Bogaart, G. van den ; Drenth, J.P. ; Huynen, M.A. ; Veltman, J.A. ; Wevers, R.A. ; Morava, E. ; Matthijs, G.; Foulquier, F.; Marquardt, T.; Lefeber, D.J. et al. sine al.
2016, Article / Letter to editor (American Journal of Human Genetics, vol. 98, iss. 2, (2016), pp. 310-321)
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation
Jansen, J.C.; Timal, S. ; Scherpenzeel, M. van; Michelakakis, H.; Vicogne, D.; Ashikov, A.M.; Moraitou, M.; Hoischen, A. ; Huijben, K.; Steenbergen, G.C. ; Boogert, M.A.W. van den; Porta, F.; Calvo, P.L.; Mavrikou, M.; Cenacchi, G.; Bogaart, G. van den ; Salomon, J.; Holleboom, A.G.; Rodenburg, R.J. ; Drenth, J.P. ; Huynen, M.A. ; Wevers, R.A. ; Morava, E. ; Foulquier, F.; Veltman, J.A. ; Lefeber, D.J. et al. sine al.
2016, Article / Letter to editor (American Journal of Human Genetics, vol. 98, iss. 2, (2016), pp. 322-330)
Patient experiences with gene panels based on exome sequencing in clinical diagnostics: high acceptance and low distress
Sie, A.S.; Prins, J.B. ; Zelst-Stams, W.A.G. van; Veltman, J.A. ; Feenstra, I. ; Hoogerbrugge, N.
2015, Article / Letter to editor (Clinical Genetics, vol. 87, iss. 4, (2015), pp. 319-326)

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