Browsing by Author "Brunner, H.G."

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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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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 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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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), article 476)
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)
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 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)
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)

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