Browsing by Author "Brunner, H.G."

Now showing items 1-50 of 431

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)
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)
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)
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)
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)
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, (2020), article e1049)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)

Now showing items 1-50 of 431

Radboud Repository

Browsing by Author "Brunner, H.G."

Search Repository

Browse

All of Repository