Browsing by Author "Veltman, J.A."

Now showing items 1-50 of 215

Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease
Cannata Serio, Magda; Graham, Laurie A.; Ashikov, A.M. ; Larsen, Lars Elmann; Raymond, Kimiyo; Timal, Sharita; Gilissen, C.F. ; Rodenburg, R.J. ; Veltman, J.A. ; Simons, Matias; Lefeber, D.J. et al. sine al.
2020, Article / Letter to editor (Hepatology, vol. 72, iss. 6, (2020), pp. 1968-1986)
Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia
Oud, M.S. ; Okutman, O.; Hendricks, L.A.J. ; Vries, P.F. de ; Houston, B.J.; Peart-Vissers, L.E.L.M. ; Ramos, L. ; Viville, S.; Veltman, J.A.
2020, Article / Letter to editor (Human Reproduction, vol. 35, iss. 1, (2020), pp. 240-252)
Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility
Wyrwoll, Margot J.; Temel, Sehime G.; Nagirnaja, Liina; Oud, M.S. ; Lopes, Alexandra M.; Heijden, G.W. van der ; Smits, R.M. ; Veltman, J.A. ; Friedrich, Corinna; Tuettelmann, Frank
2020, Article / Letter to editor (American Journal of Human Genetics, vol. 107, iss. 2, (2020), pp. 342-351)
Aberrant Expressions and Variant Screening of SEMA3D in Indonesian Hirschsprung Patients
Gunadi, .; Kalim, A.S.; Budi, N.Y.P.; Hafiq, H.M.; Maharani, A.; Febrianti, M.; Ryantono, F.; Yulianda, D.; Iskandar, K.; Veltman, J.A.
2020, Article / Letter to editor (Frontiers in Pediatrics, vol. 8, (2020), article 60)
Programmed Cell Death 2-Like (Pdcd2l) Is Required for Mouse Embryonic Development
Houston, B.J.; Oud, M.S. ; Aguirre, D.M.; Merriner, D.J.; O'Connor, A.E.; Okutman, O.; Viville, S.; Burke, R.; Veltman, J.A. ; O'Bryan, M.K.
2020, Article / Letter to editor (G3, vol. 10, iss. 12, (2020), pp. 4449-4457)
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)
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)
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)
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)
De Novo Mutations Reflect Development and Aging of the Human Germline
Goldmann, J.M. ; Veltman, J.A. ; Gilissen, C.F.
2019, Article / Letter to editor (Trends in Genetics, vol. 35, iss. 11, (2019), pp. 828-839)
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)
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 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)
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.M. ; 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)
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-+)
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)
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.A. ; 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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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.M.
2016, Article / Letter to editor (Reproductive Biomedicine Online, vol. 32, iss. 1, (2016), pp. 96-103)
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 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.M. ; 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)
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)
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)
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)
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)

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