Browsing by Author "Brunner, H.G."

Now showing items 1-50 of 407

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome
White, J.J.; Mazzeu, J.F.; Coban-Akdemir, Z.; Bayram, Y.; Bahrambeigi, Vahid; Hoischen, A. ; Bon, B.W. van ; Brunner, H.G. ; Lupski, J.R.; Carvalho, C.M.
2018, Article / Letter to editor (American Journal of Human Genetics, vol. 102, iss. 1, (2018), pp. 27-43)
Homozygous mutation in ELMO2 may cause Ramon syndrome
Mehawej, C.; Hoischen, A. ; Farah, R.; Marey, I.; David, M.; Stora, S.; Brunner, H.G. ; Megarbane, A.
2018, Article / Letter to editor (Clinical Genetics, vol. 93, iss. 3, (2018), pp. 703-706)
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)
2017 Curt Stern Award Introduction: Nico Katsanis
Brunner, H.G.
2018, Article / Letter to editor (American Journal of Human Genetics, vol. 102, iss. 3, (2018), pp. 354)
De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability
Stevens, S.J.C.; Schoot, Vyne van der; Leduc, M.S.; Rinne, T.K. ; Lalani, S.R.; Weiss, M.M.; Lehman, A.; Brunner, H.G.
2018, Article / Letter to editor (Human Mutation, vol. 39, iss. 7, (2018), pp. 1014-1023)
Titin cardiomyopathy leads to altered mitochondrial energetics, increased fibrosis and long-term life-threatening arrhythmias
Verdonschot, J.A.J.; Hazebroek, M.R.; Derks, K.W.J.; Aizpurua, A.B.; Merken, J.J.; Wang, P.; Bierau, J.; Wijngaard, A. van den; Schalla, S.M.; Abdul Hamid, M.A.; Bilsen, M. van; Empel, V.P.M. van; Knackstedt, C.; Brunner-La Rocca, H.P.; Brunner, H.G. ; Krapels, I.P.C.; Heymans, S.R.B. et al. sine al.
2018, Article / Letter to editor (European Heart Journal, vol. 39, iss. 10, (2018), pp. 864-873)
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
Olson, Heather E.; Jean-Marcais, Nolwenn; Yang, Edward; Heron, D.; Tatton-Brown, K.; Zwaag, P.A. van der; Kamsteeg, E.J. ; Reijnders, M.R.F.; Lelieveld, S.H.; Schuurs-Hoeijmakers, J.H.M. ; Brunner, H.G. ; Thomas, G; Thauvin-Robinet, Christel et al. sine al.
2018, Article / Letter to editor (American Journal of Human Genetics, vol. 102, iss. 5, (2018), pp. 995-1007)
Prevalence of Pathogenic Gene Mutations and Prognosis Do Not Differ in Isolated Left Ventricular Dysfunction Compared With Dilated Cardiomyopathy
Hazebroek, M.R.; Krapels, I.; Verdonschot, J.; Wijngaard, A. van den; Vanhoutte, E.; Hoos, M.; Snijders, L.; Montfort, L. van; Witjens, M.; Dennert, R.; Crijns, H.; Brunner-La Rocca, H.P.; Brunner, H.G. ; Heymans, S. et al. sine al.
2018, Article / Letter to editor (Circulation. Heart Failure, vol. 11, iss. 3, (2018), pp. e004682)
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder
Reijnders, M.R.F.; Miller, K.A.; Alvi, M.; Goos, J.A.C.; Lees, M.M.; Burca, A. de; Henderson, A.; Kraus, A.; Mikat, B.; Vries, B.B.A. de ; Isidor, B.; Kerr, B.; Marcelis, C.L.M. ; Schluth-Bolard, C.; Deshpande, C.; Ruivenkamp, C.A.L.; Wieczorek, D.; Baralle, D.; Blair, E.M.; Engels, H.; Ludecke, H.J.; Eason, J.; Santen, G.W.E.; Clayton-Smith, J.; Chandler, K.; Tatton-Brown, K.; Payne, K.; Helbig, K.; Radtke, K.; Nugent, K.M.; Cremer, K.; Strom, T.M.; Bird, L.M.; Sinnema, M.; Bitner-Glindzicz, M.; Dooren, M.F. van; Alders, M.; Koopmans, M.; Brick, L.; Kozenko, M.; Harline, M.L.; Klaassens, M.; Steinraths, M.; Cooper, N.S.; Edery, P.; Yap, P.; Terhal, P.A.; Spek, P.J. van der; Lakeman, P.; Taylor, R.L.; Littlejohn, R.O.; Pfundt, R.P. ; Mercimek-Andrews, S.; Stegmann, A.P.A.; Kant, S.G.; McLean, S.; Joss, S.; Swagemakers, S.M.A.; Douzgou, S.; Wall, S.A.; Kury, S.; Calpena, E.; Koelling, N.; McGowan, S.J.; Twigg, S.R.F.; Mathijssen, I.M.J.; Nellaker, C.; Brunner, H.G. ; Wilkie, A.O.M. et al. sine al.
2018, Article / Letter to editor (American Journal of Human Genetics, vol. 102, iss. 6, (2018), pp. 1195-1203)
Pathogenesis of Idiopathic Ventral Herniation of Spinal Cord: Neuropathologic Analysis
Bartels, R.H.M.A. ; Kusters, B. ; Brunner, H.G. ; Hosman, A.J.F. ; Alfen, N. van ; Grotenhuis, J.A.
2018, Article / Letter to editor (World Neurosurgery, vol. 114, (2018), pp. 30-33)
Identification of rare de novo epigenetic variations in congenital disorders
Barbosa, M.; Joshi, R.S.; Garg, P.; Martin-Trujillo, Alejandro; Patel, Nihir; Jadhav, Bharati; Vissers, L.E.L.M. ; Kleefstra, T. ; Brunner, H.G. ; Gelb, Bruce D.; Sharp, A.J. et al. sine al.
2018, Article / Letter to editor (Nature Communications, vol. 9, (2018), article 2064)
Identification of rare de novo epigenetic variations in congenital disorders
Barbosa, M.; Joshi, R.S.; Garg, P.; Martin-Trujillo, A.; Patel, N.; Jadhav, B.; Watson, C.T.; Gibson, W.; Chetnik, K.; Tessereau, C.; Mei, H.; Rubeis, S. De; Reichert, J.; Lopes, F.; Vissers, L.E.L.M. ; Kleefstra, T. ; Grice, D.E.; Edelmann, L.; Soares, G.; Maciel, P.; Brunner, H.G. ; Buxbaum, J.D.; Gelb, B.D.; Sharp, A.J. et al. sine al.
2018, Article / Letter to editor (Nature Communications, vol. 9, iss. 1, (2018), pp. 2064)
Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene
Schoot, Vyne van der; Munnik, S.A. de ; Venselaar, H. ; Elting, M.; Mancini, G.M.S.; Ravenswaaij-Arts, C.M.A. van ; Brunner, H.G. ; Stevens, S.J.C.
2018, Article / Letter to editor (Molecular Genetics & Genomic Medicine, vol. 6, iss. 3, (2018), pp. 393-400)
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder
Snijders Blok, L.; Hiatt, S.M.; Bowling, Kevin M.; Prokop, Jeremy W.; Engel, Krysta L.; Cochran, J.Nicholas; Pfundt, R.P. ; Brunner, H.G. ; Fisher, S.E. ; Kleefstra, T. ; Cooper, Gregory M. et al. sine al.
2018, Article / Letter to editor (Human Genetics, vol. 137, iss. 5, (2018), pp. 375-388)
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature
Reijnders, M.R.F.; Janowski, R.; Alvi, M.; Self, J.E.; Essen, T.J. van; Vreeburg, M.; Rouhl, R.P.W.; Stevens, S.J.C.; Stegmann, A.P.A.; Schieving, J.H. ; Pfundt, R.P. ; Dijk, K van; Smeets, E.; Stumpel, C.; Bok, L.A; Cobben, J.M.; Engelen, M.; Mansour, S.; Whiteford, M.; Chandler, K.E.; Douzgou, S.; Cooper, N.S.; Tan, Ene-Choo; Foo, R.; Lai, A.H.; Rankin, J.; Green, A.; Lonnqvist, T.; Isohanni, P.; Williams, S.; Ruhoy, I.; Carvalho, K.S.; Dowling, J.J.; Lev, D.L.; Sterbova, K.; Lassuthova, P.; Neupauerova, J.; Waugh, J.L.; Keros, S.; Clayton-Smith, J.; Smithson, S.F.; Brunner, H.G. ; Hoeckel, C. van; Anderson, M.; Clowes, V.E.; Siu, V.M.; Study, T. Ddd; Selber, P.; Leventer, R.J.; Nellaker, C.; Niessing, D.; Hunt, D.; Baralle, D. et al. sine al.
2018, Article / Letter to editor (Journal of Medical Genetics, vol. 55, iss. 2, (2018), pp. 104-113)
The Pathogenesis of Ventral Idiopathic Herniation of the Spinal Cord: A Hypothesis Based on the Review of the Literature
Bartels, R.H.M.A. ; Brunner, H.G. ; Hosman, A.J. ; Alfen, N. van ; Grotenhuis, J.A.
2017, Article / Letter to editor (Frontiers in Neurology, vol. 8, (2017), pp. 476)
Propionic acidemia as a cause of adult-onset dilated cardiomyopathy
Riemersma, M.; Hazebroek, M.R.; Helderman-van den Enden, A.T.; Salomons, G.S.; Ferdinandusse, S.; Brouwers, M.; Ploeg, L. van der; Heymans, S.; Glatz, J.F.C.; Wijngaard, A. van den; Krapels, I.P.C.; Bierau, J.; Brunner, H.G. et al. sine al.
2017, Article / Letter to editor (European Journal of Human Genetics, vol. 25, iss. 11, (2017), pp. 1195-1201)
Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families
Ngcungcu, T.; Oti, M.O. ; Sitek, J.C.; Haukanes, B.I.; Linghu, B.; Bruccoleri, R.; Stokowy, T.; Oakeley, E.J.; Yang, F; Zhu, J.; Sultan, M.; Schalkwijk, J. ; Vlijmen-Willems, I.M.J.J. van ; Lippe, C.; Brunner, H.G. ; Ersland, K.M.; Grayson, W.; Buechmann-Moller, S.; Sundnes, O.; Nirmala, N.; Morgan, T.M.; Bokhoven, H. van ; Steen, V.M.; Hull, P.R.; Szustakowski, J.; Staedtler, F.; Zhou, H. ; Fiskerstrand, T.; Ramsay, M. et al. sine al.
2017, Article / Letter to editor (American Journal of Human Genetics, vol. 100, iss. 5, (2017), pp. 737-750)
Novel IRF6 Mutations detected in Orofacial Patients by Targeted Massivety Parallel Sequencing
Khandelwal, K.; Ishorst, N.; Zhou, H. ; Ludwig, K.U.; Venselaar, H. ; Gilissen, C. ; Thonissen, M.; Rooij, I.A.L.M. van ; Dreesen, K.; Steehouwer, M. ; Vorst, M. van de; Bloemen, M. ; Beusekom, E. van ; Roosenboom, J.; Borstlap, W.A. ; Admiraal, R.J.C. ; Dormaar, T.; Schoenaers, J.; Poorten, V. Van der; Hens, G.; Verdonck, A.; Berge, S.J. ; Roeleveld, N. ; Vriend, G. ; Devriendt, K.; Brunner, H.G. ; Mangold, E.; Hoischen, A. ; Bokhoven, H. van ; Carels, C.E.L. et al. sine al.
2017, Article / Letter to editor (Journal of Dental Research, vol. 96, iss. 2, (2017), pp. 179-185)
Homozygosity Mapping and Targeted Sanger Sequencing Identifies Three Novel CRB1 (Crumbs homologue 1) Mutations in Iranian Retinal Degeneration Families
Ghofrani, M.; Yahyaei, M.; Brunner, H.G. ; Cremers, F.P. ; Movasat, M.; Khan, M.I. ; Keramatipour, M.
2017, Article / Letter to editor (Iranian Biomedical Journal, vol. 21, iss. 5, (2017), pp. 294-302)
Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype
Bruel, Ange-Line; Bigoni, S.; Kennedy, Joanna; Whiteford, M.L.; Buxton, Chris; Parmeggiani, Giulia; Bon, B.W. van ; Brunner, H.G. ; Hoischen, A. ; Thauvin-Robinet, Christel; Thevenon, J. et al. sine al.
2017, Article / Letter to editor (Journal of Medical Genetics, vol. 54, iss. 12, (2017), pp. 830-835)
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)
Novel irf6 mutations detected in orofacial cleft patients by targeted massively parallel sequencing
Khandelwal, K.; Ishorst, N.; Zhou, H. ; Ludwig, K.U.; Venselaar, H. ; Gilissen, C.F. ; Thonissen, M.; Rooij, I.A.L.M. van ; Dreesen, K.; Steehouwer, M. ; Vorst, J.M. van de; Bloemen, M. ; Beusekom, E. van ; Roosenboom, J.; Borstlap, W.A. ; Admiraal, R.J. ; Dormaar, T.; Schoenaers, J.; Poorten, V. Van der; Hens, G.; Verdonck, A.; Berge, S.J. ; Roeleveld, N. ; Vriend, G. ; Devriendt, K.; Brunner, H.G. ; Mangold, E.; Hoischen, A. ; Bokhoven, H. van ; Carels, C.E.L. et al. sine al.
2017, Article / Letter to editor (Journal of Dental Research, vol. 96, iss. 2, (2017), pp. 179-185)
Structural asymmetries of the human cerebellum in relation to cerebral cortical asymmetries and handedness
Kavaklioglu, T.K.; Guadalupe, T.M. ; Zwiers, M.P. ; Marquand, A.F.; Onnink, M. ; Shumskaya, E. ; Brunner, H.G. ; Fernandez, G. ; Fisher, S.E. ; Francks, C.
2017, Article / Letter to editor (Brain Structure and Function, vol. 222, iss. 4, (2017), pp. 1611-1623)
Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability
Dudding-Byth, Tracy; Baxter, Anne; Holliday, E.G.; Hackett, A.; O'Donnell, Sheridan; White, Susan M.; Brunner, H.G. ; Vries, B. de ; Koolen, D.A. ; Kleefstra, T. ; Brain, S.A.E.; Lovell, Brian C. et al. sine al.
2017, Article / Letter to editor (BMC Biotechnology, vol. 17, (2017), article 90)
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)
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
Oud, M.M. ; Tuijnenburg, P.; Hempel, M.; Vlies, N. van; Ren, Z.; Ferdinandusse, S.; Jansen, M.H.; Santer, R.; Johannsen, J.; Bacchelli, C.; Alders, M.; Li, R.; Davies, R.; Dupuis, L.; Cale, C.M.; Wanders, R.J.; Pals, S.T.; Ocaka, L.; James, C.; Muller, I.; Lehmberg, K.; Strom, T.; Engels, H.; Williams, H.J.; Beales, P.; Roepman, R. ; Dias, P.; Brunner, H.G. ; Cobben, J.M.; Hall, C.; Hartley, T.; Quesne Stabej, P. Le; Mendoza-Londono, R.; Davies, E.G.; Sousa, S.B.; Lessel, D.; Arts, H.H.; Kuijpers, T.W. et al. sine al.
2017, Article / Letter to editor (American Journal of Human Genetics, vol. 100, iss. 2, (2017), pp. 281-296)
Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype
Lamers, I.J.C.; Reijnders, M.R.F.; Venselaar, H. ; Kraus, A.; Jansen, S; Vries, B.B.A. de ; Houge, G.; Gradek, G.A.; Seo, J.; Choi, M.; Chae, J.H.; Burgt, I. van der ; Pfundt, R.P. ; Letteboer, S.J.F. ; Beersum, S.E.C. van ; Dusseljee, S. ; Brunner, H.G. ; Doherty, D.; Kleefstra, T. ; Roepman, R. et al. sine al.
2017, Article / Letter to editor (American Journal of Human Genetics, vol. 101, iss. 5, (2017), pp. 824-832)
RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes
Reijnders, M.R.F.; Ansor, N.M.; Kousi, M.; Yue, W.W.; Tan, P.L.; Clarkson, K.; Clayton-Smith, J.; Corning, K.; Jones, J.R.; Lam, W.W.K.; Mancini, G.M.; Marcelis, C.L. ; Mohammed, S.; Pfundt, R.P. ; Roifman, M.; Cohn, R.; Chitayat, D.; Millard, T.H.; Katsanis, N.; Brunner, H.G. ; Banka, S. et al. sine al.
2017, Article / Letter to editor (American Journal of Human Genetics, vol. 101, iss. 3, (2017), pp. 466-477)
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Redin, C.; Brand, H.; Collins, R.; Kammin, T.; Mitchell, E.; Hodge, J.C.; Hanscom, C.; Pillalamarri, V.; Seabra, C.M.; Abbott, M.A.; Abdul-Rahman, O.A.; Aberg, E.; Bongers, E.M.H.F. ; Vries, B.B.A. de ; Koolen, D.A. ; Jongmans, M.C.J. ; Marcelis, C.L.M. ; Bon, B.W.M. van ; Burgt, I. van der ; Brunner, H.G. ; Leeuw, N. de ; et al. et al. sine al.
2017, Article / Letter to editor (Nature Genetics, vol. 49, iss. 1, (2017), pp. 36-45)
Quantification of Phenotype Information Aids the Identification of Novel Disease Genes
Vulto-van Silfhout, A.T. ; Gilissen, C.F. ; Goeman, J.J. ; Jansen, S; Amen-Hellebrekers, C.J. van; Bon, B.W.M. van ; Koolen, D.A. ; Sistermans, E.A.; Brunner, H.G. ; Brouwer, A.P.M. de ; Vries, B.B. de et al. sine al.
2017, Article / Letter to editor (Human Mutation, vol. 38, iss. 5, (2017), pp. 594-599)
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder
Lessel, D.; Schob, C.; Kury, S.; Reinders, M.R.F.; Harel, T.; Eldomery, M.K.; Coban-Akdemir, Z.; Denecke, J.; Edvardson, S.; Colin, E.; Stegmann, A.P.; Gerkes, E.H.; Tessarech, M.; Bonneau, D.; Barth, M.; Besnard, T.; Cogne, B.; Revah-Politi, A.; Strom, T.M.; Rosenfeld, J.A.; Yang, Y; Posey, J.E.; Immken, L.; Oundjian, N.; Helbig, K.L.; Meeks, N.; Zegar, K.; Morton, J.; Schieving, J.H. ; Claasen, A.; Huentelman, M.; Narayanan, V.; Ramsey, K.; Brunner, H.G. ; Elpeleg, O.; Mercier, S.; Bezieau, S.; Kubisch, C.; Kleefstra, T. ; Kindler, S.; Lupski, J.R.; Kreienkamp, H.J. et al. sine al.
2017, Article / Letter to editor (American Journal of Human Genetics, vol. 101, iss. 5, (2017), pp. 716-724)
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
Boycott, K.M.; Rath, A.; Chong, J.X.; Hartley, T.; Alkuraya, F.S.; Baynam, G.; Brunner, H.G. ; Bamshad, Michael J.; Lochmueller, Hanns
2017, Article / Letter to editor (American Journal of Human Genetics, vol. 100, iss. 5, (2017), pp. 695-705)
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction
Gabriele, M.; Vulto-van Silfhout, A.T. ; Germain, P.L.; Vitriolo, A.; Kumar, R.; Douglas, E.; Haan, E.; Kosaki, K.; Takenouchi, T.; Rauch, A.; Steindl, K.; Frengen, E.; Misceo, D.; Pedurupillay, C.R.; Stromme, P.; Rosenfeld, J.A.; Shao, Y.; Craigen, W.J.; Schaaf, C.P.; Rodriguez-Buritica, D.; Farach, L.; Friedman, J.; Thulin, P.; McLean, S.D.; Nugent, K.M.; Morton, J.; Nicholl, J.; Andrieux, J.; Stray-Pedersen, A.; Chambon, P.; Patrier, S.; Lynch, S.A.; Kjaergaard, S.; Torring, P.M.; Brasch-Andersen, C.; Ronan, A.; Haeringen, A. van; Anderson, P.J.; Powis, Z.; Brunner, H.G. ; Pfundt, R.P. ; Schuurs-Hoeijmakers, J.H.M. ; Bon, B.W.M. van ; Lelieveld, S.H.; Gilissen, C.F. ; Nillesen, W.M.; Vissers, L.E.L.M. ; Gecz, J.; Koolen, D.A. ; Testa, G.; Vries, B.B. de et al. sine al.
2017, Article / Letter to editor (American Journal of Human Genetics, vol. 100, iss. 6, (2017), pp. 907-925)
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability
Reijnders, M.R.F.; Kousi, M.; Woerden, G.M. van; Klein, M.; Bralten, J.B. ; Mancini, G.M.; Essen, T. van; Proietti-Onori, M.; Smeets, E.E.J.; Gastel, M. van; Stegmann, A.P.; Stevens, S.J.; Lelieveld, S.H.; Gilissen, C. ; Pfundt, R.P. ; Tan, P.L.; Kleefstra, T. ; Franke, B. ; Elgersma, Y.; Katsanis, N.; Brunner, H.G. et al. sine al.
2017, Article / Letter to editor (Nature Communications, vol. 8, iss. 1, (2017), article 1052)
High Satisfaction and Low Distress in Breast Cancer Patients One Year after BRCA-Mutation Testing without Prior Face-to-Face Genetic Counseling
Sie, A.S.; Spruijt, L. ; Zelst-Stams, W.A.G. van; Mensenkamp, A.R. ; Ligtenberg, M.J.L. ; Brunner, H.G. ; Prins, J.B. ; Hoogerbrugge, N.
2016, Article / Letter to editor (Journal of Genetic Counseling, vol. 25, iss. 3, (2016), pp. 504-514)
DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome
Joshi, R.S.; Garg, P.; Zaitlen, N.; Lappalainen, T.; Watson, C.T.; Azam, N.; Ho, D.; Li, X. ; Antonarakis, S.E.; Brunner, H.G. ; Buiting, K.; Cheung, S.W.; Coffee, B.; Eggermann, T.; Francis, D.; Geraedts, J.P.; Gimelli, G.; Jacobson, S.G.; Le Caignec, C.; Leeuw, N. de ; Liehr, T.; Mackay, D.J.; Montgomery, S.B.; Pagnamenta, A.T.; Papenhausen, P.; Robinson, D.O.; Ruivenkamp, C.; Schwartz, C.; Steiner, B.; Stevenson, D.A.; Surti, U.; Wassink, T.; Sharp, A.J. et al. sine al.
2016, Article / Letter to editor (American Journal of Human Genetics, vol. 99, iss. 3, (2016), pp. 555-566)
Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder
Sollis, E.; Graham, S.A.; Vino, A.; Froehlich, H.; Vreeburg, M.; Dimitropoulou, D.; Gilissen, C.F. ; Pfundt, R.P. ; Rappold, G.A.; Brunner, H.G. ; Deriziotis, P.; Fisher, S.E. et al. sine al.
2016, Article / Letter to editor (Human Molecular Genetics, vol. 25, iss. 3, (2016), pp. 546-557)
DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome
White, J.J.; Mazzeu, J.F.; Hoischen, A. ; Bayram, Y.; Withers, M.; Gezdirici, A.; Kimonis, V.; Steehouwer, M. ; Jhangiani, S.N.; Muzny, D.M.; Gibbs, R.A.; Bon, B.W. van ; Sutton, V.R.; Lupski, J.R.; Brunner, H.G. ; Carvalho, C.M. et al. sine al.
2016, Article / Letter to editor (American Journal of Human Genetics, vol. 98, iss. 3, (2016), pp. 553-561)
AGORA, a data- and biobank for birth defects and childhood cancer
Rooij, I.A. van ; Zanden, L.F.M. van der ; Bongers, E.M. ; Renkema, K.Y. ; Wijers, C.H.; Thonissen, M.; Dokter, E.M.; Marcelis, C.L. ; Blaauw, I. de ; Wijnen, M.H.W.A. ; Hoogerbrugge, P.M. ; Bökkerink, J.P. ; Schreuder, M.F. ; Koster-Kamphuis, L. ; Cornelissen, E.A. ; Kapusta, L. ; Heijst, A.F.J. van ; Liem, K.D. ; Gier, R.P. de ; Kuijpers-Jagtman, A.M. ; Admiraal, R.J. ; Berge, S.J. ; Biezen, J.J. van der; Verdonck, A.; Poorten, V. Van der; Hens, G.; Roosenboom, J.; Lilien, M.R.; Jong, T.P. de; Broens, P.; Wijnen, R.; Brooks, A.; Franke, B. ; Brunner, H.G. ; Carels, C.E. ; Knoers, N.V.A.M. ; Feitz, W.F. ; Roeleveld, N. et al. sine al.
2016, Article / Letter to editor (Birth Defects Research Part A-Clinical and Molecular Teratology, vol. 106, iss. 8, (2016), pp. 675-684)
Rare novel variants in the ZIC3 gene cause X-linked heterotaxy
Paulussen, A.D.; Steyls, A.; Vanoevelen, J.; Tienen, F.H. van; Krapels, I.P.C.; Claes, G.R.; Chocron, S.; Velter, C.; Tan-Sindhunata, G.M.; Lundin, C.; Valenzuela, I.; Nagy, B.; Bache, I.; Maroun, L.L.; Avela, K.; Brunner, H.G. ; Smeets, H.J.; Bakkers, J.; Wijngaard, A. van den et al. sine al.
2016, Article / Letter to editor (European Journal of Human Genetics, vol. 24, iss. 12, (2016), pp. 1783-1791)
Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia
Bolar, N.A.; Golzio, C.; Zivna, M.; Hayot, G.; Hemelrijk, C. van; Schepers, D.; Vandeweyer, G.; Hoischen, A. ; Huyghe, J.R.; Raes, A.; Matthys, E.; Sys, E.; Azou, M.; Gubler, M.C.; Praet, M.; Van Camp, G.; McFadden, K.; Pediaditakis, I.; Pristoupilova, A.; Hodanova, K.; et al.; Hartmannova, H.; Stranecky, V.; Hulkova, H.; Baresova, V.; Jedlickova, I.; Sovova, J.; Hnizda, A.; Kidd, K.; Bleyer, A.J.; Spong, R.S.; Vande Walle, J.; Mortier, G.; Brunner, H.G. ; Van Laer, L.; Kmoch, S.; Katsanis, N.; Loeys, B.L. et al. sine al.
2016, Article / Letter to editor (American Journal of Human Genetics, vol. 99, iss. 1, (2016), pp. 174-187)
Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers
Claes, G.R.; Tienen, F.H. van; Lindsey, P.; Krapels, I.P.C.; Enden, A.T. den; Hoos, M.B.; Barrois, Y.E.; Janssen, J.W.; Paulussen, A.D.; Sels, J.W.; Kuijpers, S.H.; Tintelen, J.P. van; Berg, M.P.; Heesen, W.F.; Garcia-Pavia, P.; Perrot, A.; Christiaans, I.; Salemink, S.; Marcelis, C.L.M. ; Smeets, H.J.; Brunner, H.G. ; Volders, P.G.; Wijngaard, A. van den et al. sine al.
2016, Article / Letter to editor (European Heart Journal, vol. 37, iss. 23, (2016), pp. 1815-1822)
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations
Reijnders, M.R.F.; Zachariadis, V.; Latour, B.L.; Jolly, L.; Mancini, G.M.; Pfundt, R.P. ; Wu, K.M.; Ravenswaaij-Arts, C.M.A. van ; Veenstra-Knol, H.E.; Anderlid, B.M.; Wood, S.A.; Cheung, S.W.; Barnicoat, A.; Probst, F.; Magoulas, P.; Brooks, A.S.; Malmgren, H.; Harila-Saari, A.; Marcelis, C.M. ; Vreeburg, M.; Hobson, E.; Sutton, V.R.; Stark, Z.; Vogt, J.; Cooper, N.; Lim, J.Y.; Price, S.; Lai, A.H.; Domingo, D.; Reversade, B.; Gecz, J.; Gilissen, C.; Brunner, H.G. ; Kini, U.; Roepman, R. ; Nordgren, A.; Kleefstra, T. et al. sine al.
2016, Article / Letter to editor (American Journal of Human Genetics, vol. 98, iss. 2, (2016), pp. 373-381)
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)
Truncating de novo mutations in the Kruppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms
Stevens, S.J.; Essen, A.J. van; Ravenswaaij, C.M.A. van ; Elias, A.F.; Haven, J.A.; Lelieveld, S.H.; Pfundt, R.P. ; Nillesen, W.M.; Yntema, H.G. ; Roozendaal, K. van; Stegmann, A.P.; Gilissen, C.; Brunner, H.G. et al. sine al.
2016, Article / Letter to editor (Genome Medicine, vol. 8, iss. 1, (2016), pp. 131)
Clinical delineation of the PACS1-related syndrome--Report on 19 patients
Schuurs-Hoeijmakers, J.H.M. ; Landsverk, M.L.; Foulds, N.; Kukolich, M.K.; Gavrilova, R.H.; Greville-Heygate, S.; Hanson-Kahn, A.; Bernstein, J.A.; Glass, J.; Chitayat, D.; Burrow, T.A.; Husami, A.; Collins, K.; Wusik, K.; Aa, N. van der; Kooy, F.; Brown, K.T.; Gadzicki, D.; Kini, U.; Alvarez, S.; Fernandez-Jaen, A.; McGehee, F.; Selby, K.; Tarailo-Graovac, M.; Allen, M.; Karnebeek, C.D. van; Stavropoulos, D.J.; Marshall, C.R.; Merico, D.; Gregor, A.; Zweier, C.; Hopkin, R.J.; Chu, Y.W.; Chung, B.H.; Vries, B. de ; Devriendt, K.; Hurles, M.E.; Brunner, H.G. et al. sine al.
2016, Article / Letter to editor (American Journal of Medical Genetics. Part A, vol. 170, iss. 3, (2016), pp. 670-675)
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)
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders
Stessman, H.A.; Willemsen, M.H. ; Fenckova, M.; Penn, O.; Hoischen, A. ; Xiong, B.; Wang, T.; Hoekzema, K.; Vives, L.; Vogel, I.; Brunner, H.G. ; Burgt, I. van der ; Ockeloen, C.W.; Schuurs-Hoeijmakers, J.H. ; Wassink-Ruiter, J.S.; Stumpel, C.; Stevens, S.J.; Vles, H.S.; Marcelis, C.M. ; Bokhoven, H. van ; Cantagrel, V.; Colleaux, L.; Nicouleau, M.; Lyonnet, S.; Bernier, R.A.; Gerdts, J.; Coe, B.P.; Romano, C; Alberti, A.; Grillo, L.; Scuderi, C.; Nordenskjold, M.; Kvarnung, M.; Guo, H.; Xia, K.; Piton, A.; Gerard, B.; Genevieve, D.; Delobel, B.; Lehalle, D.; Perrin, L.; Prieur, F.; Thevenon, J.; Gecz, J.; Shaw, M.; Pfundt, R.; Keren, B.; Jacquette, A.; Schenck, A. ; Eichler, E.E.; Kleefstra, T. et al. sine al.
2016, Article / Letter to editor (American Journal of Human Genetics, vol. 98, iss. 3, (2016), pp. 541-552)
Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis
Ockeloen, C.W.; Khandelwal, K.; Dreesen, K.; Ludwig, K.U.; Sullivan, R.; Rooij, I.A.L.M. van ; Thonissen, M.; Swinnen, S.; Phan, M.; Conte, F. ; Ishorst, N.; Gilissen, C.F. ; Roa Fuentes, L.A.; Vorst, J.M. van de; Henkes, A.; Steehouwer, M. ; Beusekom, E. van ; Bloemen, M. ; Vankeirsbilck, B.; Berge, S.J. ; Hens, G.; Schoenaers, J.; Poorten, V. Van der; Roosenboom, J.; Verdonck, A.; Devriendt, K.; Roeleveld, N. ; Jhangiani, S.N.; Vissers, L.E.L.M. ; Lupski, J.R.; Ligt, J. de; Hoff, J.W. Von den ; Pfundt, R.P. ; Brunner, H.G. ; Zhou, H. ; Dixon, J.; Mangold, E.; Bokhoven, H. van ; Dixon, M.J.; Kleefstra, T. ; Hoischen, A. ; Carels, C.E.L. et al. sine al.
2016, Article / Letter to editor (Genetics in Medicine, vol. 18, iss. 11, (2016), pp. 1158-1162)

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