Browsing by Author "Brunner, H.G."

Now showing items 1-50 of 437

Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study
Putte, R. van de ; Rooij, I.A.L.M. van ; Marcelis, C.L.M. ; Guo, M.; Brunner, H.G. ; Addor, Marie-Claude; Roeleveld, N. ; Bergman, Jorieke E. H.
2020, Article / Letter to editor (Pediatric Research, vol. 87, iss. 3, (2020), pp. 541-549)
Genetic analysis of spinal dysraphism with a hamartomatous growth (appendix) of the spinal cord: a case series
Bartels, R.H.M.A. ; Grotenhuis, J.A. ; Stegmann, A.P.A.; Brunner, H.G.
2020, Article / Letter to editor (BMC Neurology, vol. 20, iss. 1, (2020), article 121)
Maternal risk factors for the VACTERL association: A EUROCAT case-control study
Putte, R. van de ; Rooij, I.A.L.M. van ; Haanappel, C.P.; Marcelis, C.L.M. ; Brunner, H.G. ; Addor, M.C.; Cavero-Carbonell, C.; Dias, C.M.; Draper, E.S.; Etxebarriarteun, L.; Gatt, M.; Khoshnood, B.; Kinsner-Ovaskainen, A.; Klungsoyr, K.; Kurinczuk, J.J.; Latos-Bielenska, A.; Luyt, K.; O'Mahony, M.T.; Miller, N.; Mullaney, C.; Nelen, V.; Neville, A.J.; Perthus, I.; Pierini, A.; Randrianaivo, H.; Rankin, J.; Rissmann, A.; Rouget, F.; Schaub, B.; Tucker, D.; Wellesley, D.; Wiesel, A.; Zymak-Zakutnia, N.; Loane, M.; Barisic, I.; Walle, H.E. de; Bergman, J.E.; Roeleveld, N. et al. sine al.
2020, Article / Letter to editor (Birth Defects Research, vol. 112, iss. 9, (2020), pp. 688-698)
Contribution of Intellectual Disability-Related Genes to ADHD Risk and to Locomotor Activity in Drosophila
Klein, M. ; Singgih, E.L. ; Rens, A.B. van; Demontis, Ditte; Borglum, Anders D.; Roth Mota, N. ; Castells Nobau, A.; Kiemeney, L.A. ; Brunner, H.G. ; Arias Vasquez, A. ; Schenck, A. ; Voet, M. van der ; Franke, B. et al. sine al.
2020, Article / Letter to editor (American Journal of Psychiatry, vol. 177, iss. 6, (2020), pp. 526-536)
Value of Speckle Tracking-Based Deformation Analysis in Screening Relatives of Patients With Asymptomatic Dilated Cardiomyopathy
Verdonschot, J.A.J.; Merken, J.J.; Brunner-La Rocca, H.P.; Hazebroek, M.R.; Eurlings, Casper G. M. J.; Thijssen, Eline; Brunner, H.G. ; Krapels, Ingrid P. C.; Knackstedt, C.
2020, Article / Letter to editor (Jacc. Cardiovascular Imaging, vol. 13, iss. 2, (2020), pp. 549-558)
Mutations in RPSA and NKX2-3 link development of the spleen and intestinal vasculature
Kerkhofs, C.H.; Stevens, S.J.C.; Faust, S.N.; Rae, William; Williams, A.; Wurm, Peter; Stegmann, A.P.A.; Brunner, H.G.
2020, Article / Letter to editor (Human Mutation, vol. 41, iss. 1, (2020), pp. 196-202)
Presence of Genetic Variants Among Young Men With Severe COVID-19
Made, C.I. van der ; Simons, A. ; Schuurs-Hoeijmakers, J.H.M. ; Heuvel, Guus van den; Mantere, T.; Kersten, S. ; Deuren, R.C. van ; Steehouwer, M. ; Reijmersdal, S.V. van ; Jaeger, M. ; Astuti, G.D. ; Corominas-Galbany, J. ; Hoeven, J.G. van der ; Hagmolen of ten Have, W.; Mast, Q. de ; Bleeker-Rovers, C.P. ; Joosten, L.A.B. ; Yntema, H.G. ; Gilissen, C.F. ; Nelen, M.R. ; Meer, J.W.M. van der ; Brunner, H.G. ; Netea, M.G. ; Veerdonk, F.L. van de ; Hoischen, A. et al. sine al.
2020, Article / Letter to editor (Jama : Journal of the American Medical Association, vol. 324, iss. 7, (2020), pp. 663-673)
Metabolic Profiling Associates with Disease Severity in Nonischemic Dilated Cardiomyopathy
Verdonschot, J.A.J.; Wang, P.; Bilsen, M. van; Hazebroek, M.R.; Merken, J.J.; Vanhoutte, E.K.; Henkens, M.; Wijngaard, A. van den; Glatz, J.F.C.; Krapels, I.P.C. ; Brunner, H.G. ; Heymans, S.R.B.; Bierau, J. et al. sine al.
2020, Article / Letter to editor (Journal of Cardiac Failure, vol. 26, iss. 3, (2020), pp. 212-222)
Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers
Verdonschot, J.A.J.; Robinson, E.L.; James, K.N.; Mohamed, M.W.; Claes, G.R.; Casas, K.; Vanhoutte, E.K.; Hazebroek, M.R.; Kringlen, G.; Pasierb, M.M.; Wijngaard, A. van den; Glatz, J.F.C.; Heymans, S.R.B.; Krapels, I.P.C. ; Nahas, S.; Brunner, H.G. ; Szklarczyk, R. et al. sine al.
2020, Article / Letter to editor (Molecular Genetics & Genomic Medicine, vol. 8, iss. 2, (2020), article e1049)
A Mutation Update for the FLNC Gene in Myopathies and Cardiomyopathies
Verdonschot, J.A.J.; Vanhoutte, E.K.; Claes, G.R.; Helderman-van den Enden, A.T.; Hoeijmakers, J.G.J. ; Hellebrekers, D.M.E.; Haan, A. de; Hoedemaekers, Y.M. ; Marcelis, C.L. ; Kempers, M.J.E. ; Waning, J.I. van; Krapels, I.P.C. ; Brunner, H.G. et al. sine al.
2020, Article / Letter to editor (Human Mutation, vol. 41, iss. 6, (2020), pp. 1091-1111)
A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies
Putte, R. van de ; Dworschak, Gabriel C.; Brosens, E.; Reutter, H.; Marcelis, C.L.M. ; Acuna Hidalgo, R.; Steehouwer, M. ; Blaauw, I. de ; Roeleveld, N. ; Brunner, H.G. ; Rooij, I.A.L.M. van ; Hoischen, A. et al. sine al.
2020, Article / Letter to editor (Frontiers in Pediatrics, vol. 8, (2020), article 310)
Leveraging genomic diversity to promote human and animal health
Ramsay, M.; Brunner, H.G. ; Djikeng, A.
2019, Article / Letter to editor (Communications Biology, vol. 2, (2019), pp. 463)
Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations
Putte, R. van de ; Wijers, C.H.W. ; Reutter, H.; Vermeulen, S.H. ; Marcelis, C.L.M. ; Brosens, E.; Broens, P.; Homberg, M.; Ludwig, M.; Jenetzky, E.; Zwink, N.; Sloots, C.E.J. ; Klein, A. de ; Brooks, A.S.; Hofstra, R.M.W.; Holsink, S.A.C.; Zanden, L.F.M. van der ; Galesloot, T.E. ; Tam, P.K.H; Steehouwer, M. ; Acuna-Hidalgo, R.; Vorst, J.M. van de ; Kiemeney, L.A.L.M. ; Garcia- Barcelo, M.M.; Blaauw, I. de ; Brunner, H.G. ; Roeleveld, N. ; Rooij, I.A.L.M. van et al. sine al.
2019, Article / Letter to editor (PLoS One, vol. 14, iss. 5, (2019), article e0217477)
Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability
Snoeijen-Schouwenaars, Francesca M.; Ool, Jans S. van; Verhoeven, J.S.; Mierlo, Petra van; Braakman, H.M.; Smeets, E.E.J.; Yntema, H.G. ; Brunner, H.G. ; Pfundt, R.P. ; Kamsteeg, E.J. ; Schelhaas, H.J.; Willemsen, M.H. et al. sine al.
2019, Article / Letter to editor (Epilepsia, vol. 60, iss. 1, (2019), pp. 155-164)
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons
Bell, Scott; Rousseau, Justine; Peng, Huashan; Aouabed, Zahia; Priam, Pierre; Theroux, Jean-Francois; Brunner, H.G. ; Ernst, Carl; Campeau, Philippe M.
2019, Article / Letter to editor (American Journal of Human Genetics, vol. 104, iss. 5, (2019), pp. 815-834)
Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders
Donk, Roos van der; Jansen, S; Schuurs-Hoeijmakers, J.H.M. ; Koolen, D.A. ; Goltstein, C.M.J. ; Hoischen, A. ; Brunner, H.G. ; Vissers, L.E.L.M. ; Vries, B.B.A. de ; Hehir-Kwa, J.Y.
2019, Article / Letter to editor (Genetics in Medicine, vol. 21, iss. 8, (2019), pp. 1719-1725)
Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants
Tienen, F.H. van; Lindsey, Patrick J.; Kamps, Miriam A. F.; Krapels, Ingrid P.; Ramaekers, Frans C. S.; Brunner, H.G. ; Wijngaard, A. van den; Broers, J.L.
2019, Article / Letter to editor (European Journal of Human Genetics, vol. 27, iss. 3, (2019), pp. 389-399)
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative
Nellaker, C.; Alkuraya, F.S.; Baynam, G.; Bernier, R.A.; Bernier, F.P.; Boulangerw, Vanessa; Brunner, H.G. ; Vries, B.B.A. de ; Kleefstra, T. ; Reijnders, Margot R.F. ; Esch, H. Van; Witkie, Andrew O.M. et al. sine al.
2019, Article / Letter to editor (Frontiers in Genetics, vol. 10, (2019), article 611)
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders
Guo, Hui; Bettella, Elisa; Marcogliese, Paul C.; Zhao, Rongjuan; Andrews, Jonathan C.; Nowakowski, Tomasz J.; Willemsen, M.H. ; Bon, B.W. van ; Rinne, T.K. ; Kleefstra, T. ; Brunner, H.G. ; Yntema, H.G. ; Nickerson, Deborah A.; Bamshad, Michael J. et al. sine al.
2019, Article / Letter to editor (Nature Communications, vol. 10, (2019), article 4679)
1 in 38 individuals at risk of a dominant medically actionable disease
Haer-Wigman, L. ; Schoot, Vyne van der; Feenstra, I. ; Vulto-van Silfhout, A.T. ; Gilissen, C.F. ; Brunner, H.G. ; Vissers, L.E.L.M. ; Yntema, H.G.
2019, Article / Letter to editor (European Journal of Human Genetics, vol. 27, iss. 2, (2019), pp. 325-330)
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism
Diets, I.J. ; Donk, R. van der; Baltrunaite, K.; Waanders, E. ; Reijnders, M.R.F. ; Dingemans, A.J.; Pfundt, R.P. ; Vulto-van Silfhout, A.T. ; Wiel, L.J.M. van de ; Gilissen, C.F. ; Thevenon, J.; Perrin, L.; Afenjar, A.; Nava, C.; Keren, B.; Bartz, S.; Peri, B.; Beunders, G.; Verbeek, N.; Gassen, K. van; Thiffault, I.; Cadieux-Dion, M.; Huerta-Saenz, L.; Wagner, M.; Konstantopoulou, V.; Vodopiutz, J.; Griese, M.; Boel, A.; Callewaert, B.; Brunner, H.G. ; Kleefstra, T. ; Hoogerbrugge, N. ; Vries, B.B. de ; Hwa, V.; Dauber, A.; Hehir-Kwa, J.Y. ; Kuiper, R.P; Jongmans, M.C.J. et al. sine al.
2019, Article / Letter to editor (American Journal of Human Genetics, vol. 104, iss. 4, (2019), pp. 758-766)
Non-Syndromic Cleft Lip with or without Cleft Palate: Genome-Wide Association Study in Europeans Identifies a Suggestive Risk Locus at 16p12.1 and Supports SH3PXD2A as a Clefting Susceptibility Gene
Rooij, I.A.L.M. van ; Ludwig, K.U.; Welzenbach, J.; Ishorst, N.; Thonissen, M.; Galesloot, T.E. ; Ongkosuwito, E.M. ; Berge, S.J. ; Aldhorae, K.; Rojas-Martinez, A.; Kiemeney, L.A. ; Vermeesch, J.R.; Brunner, H.G. ; Roeleveld, N. ; Devriendt, K.; Dormaar, T.; Hens, G.; Knapp, M.; Carels, C.E. ; Mangold, E. et al. sine al.
2019, Article / Letter to editor (Genes, vol. 10, iss. 12, (2019), article E1023)
Genetic architecture of subcortical brain structures in 38,851 individuals
Satizabal, Claudia L.; Adams, H.; Hibar, Derrek P.; White, Charles C.; Knol, Maria J.; Stein, Jason L.; Arias Vasquez, A. ; Bralten, J.B. ; Becker, D.; Hoogman, M. ; Klein, M. ; Marquand, A.F. ; Shumskaya, E. ; Rooij, D. van ; Wolfers, T. ; Zwiers, M.P. ; Bokhoven, H. van ; Brunner, H.G. ; Buitelaar, J.K. ; Fisher, S.E. ; Fernandez, G.S.E. ; Franke, B. ; Seshadri, Sudha; Arfan Ikram, M. et al. sine al.
2019, Article / Letter to editor (Nature Genetics, vol. 51, iss. 11, (2019), pp. 1624-1636)
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder
Snijders Blok, L. ; Kleefstra, T. ; Venselaar, H. ; Maas, Saskia; Kroes, Hester Y.; Lachmeijer, Augusta M. A.; Gilissen, C. ; Pfundt, R.P. ; Brunner, H.G. ; Fisher, S.E.
2019, Article / Letter to editor (American Journal of Human Genetics, vol. 105, iss. 2, (2019), pp. 403-412)
Neandertal Introgression Sheds Light on Modern Human Endocranial Globularity
Gunz, Philipp; Tilot, A.K.; Wittfeld, K.; Teumer, A.; Shapland, Chin Yang; van Erp, Theo G.M.; Dannemann, Michael; Vernot, Benjamin; Neubauer, Simon; Guadalupe, T.M. ; Fernandez, G.S.E. ; Brunner, H.G. ; Enard, Wolfgang; Fallon, James; Hosten, Norbert; Völker, Uwe; Profico, Antonio; Di Vincenzo, Fabio; Manzi, Giorgio; Kelso, Janet; St. Pourcain, Beate; Hublin, Jean-Jacques; Franke, B. ; Pääbo, Svante; Macciardi, Fabio; Grabe, H.J.; Fisher, S.E. et al. sine al.
2019, Article / Letter to editor (Current Biology, vol. 29, iss. 1, (2019), pp. 120-127.e5)
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)
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)
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)
Clinical Phenotype and Genotype Associations With Improvement in Left Ventricular Function in Dilated Cardiomyopathy
Verdonschot, J.A.J.; Hazebroek, M.R.; Wang, Ping; Sanders-van Wijk, Sandra; Merken, J.J.; Adriaansen, Yvonne A.; Brunner, H.G. ; Heymans, S.R.B.
2018, Article / Letter to editor (Circulation. Heart Failure, vol. 11, iss. 11, (2018), article e005220)
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)
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)
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)
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)
NBEA: Developmental disease gene with early generalized epilepsy phenotypes
Mulhern, Maureen S.; Stumpel, C.; Stong, N.; Brunner, H.G. ; Bier, Louise; Lippa, Natalie; Kempers, M.J.E. ; Pfundt, R.P. ; Snijders Blok, L. ; Stevens, S.J.C.; Sands, Tristan T. et al. sine al.
2018, Article / Letter to editor (Annals of Neurology, vol. 84, iss. 5, (2018), pp. 788-795)
Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects
Loges, N.T.; Antony, D.; Maver, Ales; Deardorff, M.A.; Gulec, Elif Yylmaz; Gezdirici, A.; Wu, K.M.; Bakey, Z.; Brunner, H.G. ; Omran, H.; Schmidts, M. et al. sine al.
2018, Article / Letter to editor (American Journal of Human Genetics, vol. 103, iss. 6, (2018), pp. 995-1008)
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)
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)
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)
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)
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation
Basilicata, M.Felicia; Bruel, Ange-Line; Semplicio, Giuseppe; Valsecchi, Claudia Isabelle Keller; Aktas, Tugce; Duffourd, Y.; Gilissen, C.F. ; Burgt, I. van der ; Pfundt, R.P. ; Brunner, H.G. ; Thevenon, J.; Akhtar, A. et al. sine al.
2018, Article / Letter to editor (Nature Genetics, vol. 50, iss. 10, (2018), pp. 1442-1451)
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)
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)
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
Snijders Blok, C. ; Rousseau, Justine; Twist, Joanna; Ehresmann, Sophie; Takaku, Motoki; Venselaar, H. ; Pfundt, R.P. ; Jansen, S; Kleefstra, T. ; Brunner, H.G. ; Fisher, S.E. ; Campeau, Philippe M. et al. sine al.
2018, Article / Letter to editor (Nature Communications, vol. 9, (2018), article 4619)
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)
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)
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)
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)
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.S.E. ; Fisher, S.E. ; Francks, C.
2017, Article / Letter to editor (Brain Structure and Function, vol. 222, iss. 4, (2017), pp. 1611-1623)
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)

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