Browsing by Author "Koolen, D.A."

Now showing items 1-50 of 78

De novo variants in MPP5 cause global developmental delay and behavioral changes
Sterling, Noelle; Duncan, Anna R.; Park, R.S.; Koolen, D.A. ; Shi, J.; Cho, S.X.; Kim, S.; Agrawal, Pankaj B.
2020, Article / Letter to editor (Human Molecular Genetics, vol. 29, iss. 20, (2020), pp. 3388-3401)
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects
Manole, A; Efthymiou, S.; O'Connor, E.; Mendes, M.I.; Jennings, M.; Maroofian, R.; Davagnanam, I.; Raaphorst, J.; Pfundt, R.P. ; Koolen, D.A. ; Houlden, H. et al. sine al.
2020, Article / Letter to editor (American Journal of Human Genetics, vol. 107, iss. 2, (2020), pp. 311-324)
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor beta Signaling
Johnson, B.V.; Kumar, R.; Oishi, S.; Alexander, S.; Kasherman, M.; Vega, M.S.; Ivancevic, A.; Gardner, A.; Domingo, D.; Corbett, M.; Parnell, E.; Yoon, S.; Oh, T.; Lines, M.; Lefroy, H.; Kini, U.; Allen, M.; Gronborg, S.; Mercier, S.; Kury, S.; Bezieau, S.; Pasquier, L.; Raynaud, M.; Afenjar, A.; Villemeur, T. Billette de; Keren, B.; Desir, J.; Maldergem, L. Van; Marangoni, M.; Dikow, N.; Koolen, D.A. ; VanHasselt, P.M.; Weiss, M.; Zwijnenburg, P.; Sa, J.; Reis, C.F.; Lopez-Otin, C.; Santiago-Fernandez, O.; Fernandez-Jaen, A.; Rauch, A.; Steindl, K.; Joset, P.; Goldstein, A.; Madan-Khetarpal, S.; Infante, E.; Zackai, E.; McDougall, C.; Narayanan, V.; Ramsey, K.; Mercimek-Andrews, S.; Pena, L.; Shashi, V.; Schoch, K.; Sullivan, J.A.; Pinto, E.V.F.; Pichurin, P.N.; Ewing, S.A.; Barnett, S.S.; Klee, E.W.; Perry, M.S.; Koenig, M.K.; Keegan, C.E.; Schuette, J.L.; Asher, S.; Perilla-Young, Y.; Smith, L.D.; Rosenfeld, J.A.; Bhoj, E.; Kaplan, P.; Li, D.; Oegema, R.; Binsbergen, E. van; Zwaag, B. van der; Smeland, M.F.; Cutcutache, I.; Page, M.; Armstrong, M.; Lin, A.E.; Steeves, M.A.; Hollander, N.D.; Hoffer, M.J.V.; Reijnders, M.R.; Demirdas, S.; Koboldt, D.C.; Bartholomew, D.; Mosher, T.M.; Hickey, S.E.; Shieh, C.; Sanchez-Lara, P.A.; Graham, J.M.; Tezcan, K.; Schaefer, G.B.; Danylchuk, N.R.; Asamoah, A.; Jackson, K.E.; Yachelevich, N.; Au, M.; Perez-Jurado, L.A.; Kleefstra, T. ; Penzes, P.; Gécz, J.; Jolly, L.A. et al. sine al.
2020, Article / Letter to editor (Biological Psychiatry, vol. 87, iss. 2, (2020), pp. 100-112)
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy
Nabais Sá, M.J. ; Venselaar, H. ; Wiel, L.J.M. van de ; Trimouille, A.; Lasseaux, E.; Naudion, S.; Lacombe, D.; Piton, A.; Vincent-Delorme, C.; Zweier, C. ; Reis, A.; Trollmann, R.; Ruiz, A.; Gabau, E.; Vetro, A.; Guerrini, R.; Bakhtiari, S.; Kruer, M.C.; Amor, D.J.; Cooper, M.S.; Bijlsma, E.K.; Barakat, T.S.; Dooren, M.F. van; Slegtenhorst, M. van; Pfundt, R.P. ; Gilissen, C.F. ; Willemsen, M.A. ; Vries, B.B.A. de ; Brouwer, A.P.M. de ; Koolen, D.A. et al. sine al.
2020, Article / Letter to editor (Genetics in Medicine, vol. 22, iss. 4, (2020), pp. 797-802)
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
Hengel, H.; Bosso-Lefevre, C.; Grady, G.; Szenker-Ravi, E.; Li, H.; Pierce, S.; Lebigot, E.; Tan, T.T.; Eio, M.Y.; Narayanan, G.; Utami, K.H.; Yau, M.; Handal, N.; Deigendesch, W.; Keimer, R.; Marzouqa, H.M.; Gunay-Aygun, M.; Muriello, M.J.; Verhelst, H.; Weckhuysen, S.; Mahida, S.; Naidu, S.; Thomas, T.G.; Lim, J.Y.; Tan, E.S.; Haye, D.; Willemsen, M.A.A.P. ; Oegema, R.; Mitchell, W.G.; Pierson, T.M.; Andrews, M.V.; Willing, M.C.; Rodan, L.H.; Barakat, T.S.; Slegtenhorst, M. van; Gavrilova, R.H.; Martinelli, D.; Gilboa, T.; Tamim, A.M.; Hashem, M.O.; AlSayed, M.D.; Abdulrahim, M.M.; Al-Owain, M.; Awaji, A.; Mahmoud, A.A.H.; Faqeih, E.A.; Asmari, A.A.; Algain, S.M.; Jad, L.A.; Aldhalaan, H.M.; Helbig, I.; Koolen, D.A. ; Riess, A.; Kraegeloh-Mann, I.; Bauer, P.; Gulsuner, S.; Stamberger, H.; Ng, A.Y.; Tang, S.; Tohari, S.; Keren, B.; Schultz-Rogers, L.E.; Klee, E.W.; Barresi, S.; Tartaglia, M.; Mor-Shaked, H.; Maddirevula, S.; Begtrup, A.; Telegrafi, A.; Pfundt, R.P. ; Schule, R.; Ciruna, B.; Bonnard, C.; Pouladi, M.A.; Stewart, J.C.; Claridge-Chang, A.; Lefeber, D.J. ; Alkuraya, F.S.; Mathuru, A.S.; Venkatesh, B.; Barycki, J.J.; Simpson, Malcolm; Jamuar, S.S.; Schols, L.; Reversade, B. et al. sine al.
2020, Article / Letter to editor (Nature Communications, vol. 11, iss. 1, (2020), article 595)
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study
Groeneweg, S.; Geest, F.S. van; Abaci, A.; Alcantud, A.; Ambegaonkar, G.P.; Armour, C.M.; Bakhtiani, P.; Barca, D.; Bertini, E.S.; Beijnum, I.M. van ; Brunetti-Pierri, N.; Bugiani, M.; Cappa, M.; Cappuccio, G.; Castellotti, B.; Castiglioni, C.; Chatterjee, K.; Coo, I.F.M. de; Coutant, R.; Craiu, D.; Crock, P.; DeGoede, C.; Demir, K.; Dica, A.; Dimitri, P.; Dolcetta-Capuzzo, A.; Dremmen, M.H.G.; Dubey, R.; Enderli, A.; Fairchild, J.; Gallichan, J.; George, B.; Gevers, E.F.; Hackenberg, A.; Halasz, Z.; Heinrich, B.; Huynh, T.; Klosowska, A.; Knaap, M.S. van der; Knoop, M.M. van der; Konrad, D.; Koolen, D.A. ; Krude, H.; Lawson-Yuen, A.; Lebl, J.; Linder-Lucht, M.; Lorea, C.F.; Lourenco, C.M.; Lunsing, R.J.; Lyons, G.; Malikova, J.; Mancilla, E.E.; McGowan, A.; Mericq, V.; Lora, F.M.; Moran, C.; Muller, K.E.; Oliver-Petit, I.; Paone, L.; Paul, P.G.; Polak, M; Porta, F.; Poswar, F.O.; Reinauer, C.; Rozenkova, K.; Menevse, T.S.; Simm, P.; Simon, A. ; Singh, Y.; Spada, M.; Spek, J. van der; Stals, M.A.M.; Stoupa, A.; Subramanian, G.M.; Tonduti, D.; Turan, S.; Uil, C.A. den; Vanderniet, J.; Walt, A. van der; Wemeau, J.L.; Wierzba, J.; Wit, M.Y. de; Wolf, N.I.; Wurm, M.; Zibordi, F.; Zung, A.; Zwaveling-Soonawala, N.; Visser, Wesley J. et al. sine al.
2020, Article / Letter to editor (Lancet Diabetes & Endocrinology, vol. 8, iss. 7, (2020), pp. 594-605)
GRIN2A-related disorders: genotype and functional consequence predict phenotype
Strehlow, V.; Heyne, H.O.; Vlaskamp, D.R.M.; Marwick, K.F.M.; Rudolf, G.; Bellescize, J. de; Biskup, S.; Brilstra, E.H.; Brouwer, O.F.; Callenbach, P.M.C.; Hentschel, J.; Hirsch, E.; Kind, P.C.; Mignot, C.; Platzer, K.; Rump, P.; Skehel, P.A.; Wyllie, D.J.A.; Hardingham, G.E.; Ravenswaaij-Arts, C.M.A. van ; Koolen, D.A. ; Willemsen, M.H. ; Lesca, G.; Lemke, J.R. et al. sine al.
2019, Article / Letter to editor (Brain, vol. 142, iss. 1, (2019), pp. 80-92)
Aminoacyl-tRNA synthetase deficiencies in search of common themes
Fuchs, Sabine A.; Schene, Imre F.; Kok, Gautam; Jansen, Jurriaan M.; Nikkels, Peter G.J.; Gassen, Koen L. I. van; Vries, M.C. de ; Koolen, D.A. ; Mulder, Margot F.; Hasselt, Peter M. van
2019, Article / Letter to editor (Genetics in Medicine, vol. 21, iss. 2, (2019), pp. 319-330)
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)
Treatment Responsiveness in KCNT1-Related Epilepsy
Fitzgerald, Mark P.; Fiannacca, Martina; Smith, D.M.; Gertler, Tracy S.; Gunning, B.; Syrbe, S.; Koolen, D.A. ; Moller, Rikke S.; Bearden, D.W.
2019, Article / Letter to editor (Neurotherapeutics, vol. 16, iss. 3, (2019), pp. 848-857)
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights
Johnstone, D.L.; Al-Shekaili, H.H.; Tarailo-Graovac, M.; Wolf, N.I.; Ivy, A.S.; Demarest, S.; Roussel, Y.; Ciapaite, J.; Roermund, C.W.T. van; Kernohan, K.D.; Kosuta, C.; Ban, K.; Ito, Y.; McBride, S.; Al-Thihli, K.; Abdelrahim, R.A.; Koul, R.; Futaisi, A. Al; Haaxma, C.A. ; Olson, H.; Sigurdardottir, L.Y.; Arnold, G.L.; Gerkes, E.H.; Boon, M.; Heiner-Fokkema, M.R.; Noble, S.; Bosma, M.; Jans, J.; Koolen, D.A. ; Kamsteeg, E.J. ; Drogemoller, B.; Ross, C.J.; Majewski, J.; Cho, M.T.; Begtrup, A.; Wasserman, W.W.; Bui, T.; Brimble, E.; Violante, S.; Houten, S.M.; Wevers, R.A. ; Faassen, M. van; Kema, I.P.; Lepage, N.; Lines, M.A.; Dyment, D.A.; Wanders, R.J.; Verhoeven-Duif, N.; Ekker, M.; Boycott, K.M.; Friedman, J.M.; Pena, I.A.; Karnebeek, C.D. van et al. sine al.
2019, Article / Letter to editor (Brain, vol. 142, iss. 3, (2019), pp. 542-559)
Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior
Brouwer, A.P.M. de ; Abou Jamra, Rami; Koertel, Nadine; Soyris, Clara; Polla, D.L.; Safra, Modi; Pfundt, R.P. ; Boer, L. de ; Koolen, D.A. ; Bokhoven, H. van ; Schwartz, S. et al. sine al.
2018, Article / Letter to editor (American Journal of Human Genetics, vol. 103, iss. 6, (2018), pp. 1045-1052)
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
Helbig, K.L.; Lauerer, R.J.; Bahr, J.C.; Souza, I.A.; Myers, C.T.; Uysal, B.; Schwarz, N.; Gandini, M.A.; Huang, S.; Keren, B.; Mignot, C.; Afenjar, A.; Villemeur, T. Billette de; Heron, D.; Nava, C.; Valence, S.; Buratti, J.; Fagerberg, C.R.; Soerensen, K.P.; Kibaek, M.; Kamsteeg, E.J. ; Koolen, D.A. ; Gunning, B.; Schelhaas, H.J. ; Kruer, M.C.; Fox, J.; Bakhtiari, S.; Jarrar, R.; Padilla-Lopez, S.; Lindstrom, K.; Jin, S.C.; Zeng, X.; Bilguvar, K.; Papavasileiou, A.; Xin, Q.; Zhu, C.; Boysen, K.; Vairo, F.; Lanpher, B.C.; Klee, E.W.; Tillema, J.M.; Payne, E.T.; Cousin, M.A.; Kruisselbrink, T.M.; Wick, M.J.; Baker, J.; Haan, E.; Smith, N.; Corbett, M.A.; MacLennan, A.H.; Gecz, J.; Biskup, S.; Goldmann, E.; Rodan, L.H.; Kichula, E.; Segal, E.; Jackson, K.E.; Asamoah, A.; Dimmock, D.; McCarrier, J.; Botto, L.D.; Filloux, F.; Tvrdik, T.; Cascino, G.D.; Klingerman, S.; Neumann, C.; Wang, R.; Jacobsen, J.C.; Nolan, M.A.; Snell, R.G.; Lehnert, K.; Sadleir, L.G.; Anderlid, B.M.; Kvarnung, M.; Guerrini, R.; Friez, M.J.; Lyons, M.J.; Leonhard, J.; Kringlen, G.; Casas, K.; Achkar, C.M. El; Smith, L.A.; Rotenberg, A.; Poduri, A.; Sanchis-Juan, A.; Carss, K.J.; Rankin, J.; Zeman, A.; Raymond, F.L.; Blyth, M.; Kerr, B.; Ruiz, K.; Urquhart, J.; Hughes, I.; Banka, S.; Hedrich, U.B.S.; Scheffer, I.E.; Helbig, I.; Zamponi, G.W.; Lerche, H., et al. et al. sine al.
2018, Article / Letter to editor (American Journal of Human Genetics, vol. 103, iss. 5, (2018), pp. 666-678)
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)
Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia
Morgan, A.; Haaften, L. van; Hulst, C.C. van ; Edley, Carol; Mei, C.; Tan, T.; Fisher, S.E. ; Koolen, D.A.
2018, Article / Letter to editor (European Journal of Human Genetics, vol. 26, iss. 1, (2018), pp. 75-84)
High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer
Diets, I.J. ; Waanders, E. ; Ligtenberg, M.J.L. ; Bladel, D.A.G. van ; Kamping, E.J. ; Hoogerbrugge, P.M. ; Hopman, S.; Olderode-Berends, M.J.; Gerkes, E.H.; Koolen, D.A. ; Marcelis, C.L. ; Santen, G.W.E.; Belzen, M.J. van; Mordaunt, D.; McGregor, L.; Thompson, E.; Kattamis, A.; Pastorczak, A.; Mlynarski, W.; Ilencikova, D.; Vulto-van Silfhout, A.T. ; Gardeitchik, T. ; Bont, E.S. de; Loeffen, J.; Wagner, A.; Mensenkamp, A.R. ; Kuiper, R.P. ; Hoogerbrugge, N. ; Jongmans, M.C. et al. sine al.
2018, Article / Letter to editor (Clinical Cancer Research, vol. 24, iss. 7, (2018), pp. 1594-1603)
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy
McMillan, H.J.; Telegrafi, A.; Singleton, A.; Cho, M.T.; Lelli, D.; Lynn, F.C.; Griffin, J.; Asamoah, A.; Rinne, T.K. ; Erasmus, C.E. ; Koolen, D.A. ; Haaxma, C.A. ; Keren, B.; Doummar, D.; Mignot, C.; Thompson, I.; Velsher, L.; Dehghani, M.; Mehrjardi, M.Y.V.; Maroofian, R.; Tchan, M.; Simons, C.; Christodoulou, J.; Martin-Hernandez, E.; Guillen Sacoto, M.J.; Henderson, L.B.; McLaughlin, H.; Molday, L.L.; Molday, R.S.; Yoon, G. et al. sine al.
2018, Article / Letter to editor (Orphanet Journal of Rare Diseases, vol. 13, iss. 1, (2018), article 86)
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)
Adaptive and maladaptive functioning in Kleefstra syndrome compared to other rare genetic disorders with intellectual disabilities
Vermeulen, K. ; Boer, A. de; Janzing, J.G.E. ; Koolen, D.A. ; Ockeloen, C.W. ; Willemsen, M.H. ; Verhoef, F.M.; Deurzen, P.A.M. van ; Dongen, L.C.M. van ; Bokhoven, H. van ; Egger, J.I.M. ; Staal, W.G. ; Kleefstra, T. et al. sine al.
2017, Article / Letter to editor (American Journal of Medical Genetics. Part A, vol. 173, iss. 7, (2017), pp. 1821-1830)
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)
The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients
Myers, K.A.; Mandelstam, S.A.; Ramantani, G.; Rushing, E.J.; Vries, B.B. de ; Koolen, D.A. ; Scheffer, I.E.
2017, Article / Letter to editor (Epilepsia, vol. 58, iss. 6, (2017), pp. 1085-1094)
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)
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)
Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition
Arbogast, T.; Iacono, G.; Chevalier, C.; Afinowi, N.O.; Houbaert, X.; Eede, M.C. van; Laliberte, C.; Birling, M.C.; Linda, K. ; Meziane, H.; Selloum, M.; Sorg, T.; Nadif Kasri, N. ; Koolen, D.A. ; Stunnenberg, H. ; Henkelman, R.M.; Kopanitsa, M.; Humeau, Y.; Vries, B.B.A. de ; Herault, Y. et al. sine al.
2017, Article / Letter to editor (Plos Genetics, vol. 13, iss. 7, (2017), pp. e1006886)
Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H
Mulkey, S.B.; Ben-Zeev, B.; Nicolai, J.; Carroll, J.L.; Gronborg, S.; Jiang, Y.H.; Joshi, N.; Kelly, M.; Koolen, D.A. ; Mikati, M.A.; Park, K.; Pearl, P.L.; Scheffer, I.E.; Spillmann, R.C.; Taglialatela, M.; Vieker, S.; Weckhuysen, S.; Cooper, E.C.; Cilio, M.R. et al. sine al.
2017, Article / Letter to editor (Epilepsia, vol. 58, iss. 3, (2017), pp. 436-445)
SLC13A5 is the second gene associated with Kohlschutter-Tonz syndrome
Schossig, A.; Bloch-Zupan, A.; Lussi, A.; Wolf, N.I.; Raskin, S.; Cohen, M.; Giuliano, F.; Jurgens, J.; Krabichler, B.; Koolen, D.A. ; Sobreira, N.L.; Maurer, E.; Muller-Bolla, M.; Penzien, J.; Zschocke, J.; Kapferer-Seebacher, I. et al. sine al.
2017, Article / Letter to editor (Journal of Medical Genetics, vol. 54, iss. 1, (2017), pp. 54-62)
Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy
Flex, E.; Niceta, M.; Cecchetti, S.; Thiffault, I.; Au, M.G.; Capuano, A.; Piermarini, E.; Ivanova, A.A.; Francis, J.W.; Chillemi, G.; Chandramouli, B.; Carpentieri, G.; Haaxma, C.A. ; Ciolfi, A.; Pizzi, S.; Douglas, G.V.; Levine, K.; Sferra, A.; Dentici, M.L.; Pfundt, R.R.; Pichon, J.B. Le; Farrow, E.; Baas, F.; Piemonte, F.; Dallapiccola, B.; Graham, J.M.; Saunders, C.J.; Bertini, E.; Kahn, R.A.; Koolen, D.A. ; Tartaglia, M. et al. sine al.
2016, Article / Letter to editor (American Journal of Human Genetics, vol. 99, iss. 4, (2016), pp. 962-973)
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities
D'Angelo, D.; Lebon, S.; Chen, Q.; Martin-Brevet, S.; Snyder, L.G.; Hippolyte, L.; Hanson, E.; Maillard, A.M.; Faucett, W.A.; Mace, A.; Pain, A.; Bernier, R.; Chawner, S.J.; David, A.; Andrieux, J.; Aylward, E.; Baujat, G.; Caldeira, I.; Conus, P.; Ferrari, C.; Forzano, F.; Gerard, M.; Goin-Kochel, R.P.; Grant, E.; Hunter, J.V.; Isidor, B.; Jacquette, A.; Jonch, A.E.; Keren, B.; Lacombe, D.; Caignec, C. Le; Martin, C.L.; Mannik, K.; Metspalu, A.; Mignot, C.; Mukherjee, P.; Owen, M.J.; Passeggeri, M.; Rooryck-Thambo, C.; Rosenfeld, J.A.; Spence, S.J.; Steinman, K.J.; Tjernagel, J.; Haelst, M. van; Shen, Y.; Draganski, B.; Sherr, E.H.; Ledbetter, D.H.; Bree, M.B. van den; Beckmann, J.S.; Spiro, J.E.; Reymond, A.; Jacquemont, S.; Chung, W.K.; Vries, B.B. de ; Faas, B.H.W. ; Koolen, D.A. ; Vulto-van Silfhout, A.T. ; Leeuw, N. de ; et al. et al. sine al.
2016, Article / Letter to editor (JAMA Psychiatry, vol. 73, iss. 1, (2016), pp. 20-30)
Duplications of SLC1A3: Associated with ADHD and autism
Amen-Hellebrekers, C.J. van; Jansen, S; Pfundt, R.P. ; Schuurs-Hoeijmakers, J.H.M. ; Koolen, D.A. ; Marcelis, C.L. ; Leeuw, N. de ; Vries, B.B.A. de
2016, Article / Letter to editor (European Journal of Medical Genetics, vol. 59, iss. 8, (2016), pp. 373-376)
Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency
Sanchez-Caballero, L.; Ruzzenente, B.; Bianchi, L.; Assouline, Z.; Barcia, G.; Metodiev, M.D.; Rio, M. del; Funalot, B.; Brand, M.A.M. van den ; Guerrero-Castillo, S.; Molenaar, J.P.F. ; Koolen, D.A. ; Brandt, U. ; Rodenburg, R.J.T. ; Nijtmans, L.G.J. ; Rotig, A. et al. sine al.
2016, Article / Letter to editor (American Journal of Human Genetics, vol. 99, iss. 1, (2016), pp. 208-216)
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant
Koolen, D.A. ; Pfundt, R.P. ; Linda, K. ; Beunders, G.; Veenstra-Knol, H.E.; Conta, J.H.; Fortuna, A.M.; Gillessen-Kaesbach, G.; Dugan, S.; Halbach, S.; Abdul-Rahman, O.A.; Winesett, H.M.; Chung, W.K.; Dalton, M.; Dimova, P.S.; Mattina, T.; Prescott, K.; Zhang, H.Z.; Saal, H.M.; Hehir-Kwa, J.Y. ; Willemsen, M.H. ; Ockeloen, C.W. ; Jongmans, M.C.J. ; Van der Aa, N.; Failla, P.; Barone, C.; Avola, E.; Brooks, A.S.; Kant, S.G.; Gerkes, E.H.; Firth, H.V.; Ounap, K.; Bird, L.M.; Masser-Frye, D.; Friedman, J.R.; Sokunbi, M.A.; Dixit, A.; Splitt, M.; Kukolich, M.K.; McGaughran, J.; Coe, B.P.; Florez, J.; Nadif Kasri, N. ; Brunner, H.G. ; Thompson, E.M.; Gecz, J.; Romano, C; Eichler, E.E.; Vries, B. de et al. sine al.
2016, Article / Letter to editor (European Journal of Human Genetics, vol. 24, iss. 5, (2016), pp. 652-659)
Vitiligo in the Koolen-de Vries or 17q21.31 microdeletion syndrome
Maley, A.M.; Spraker, M.K.; Vries, B. de ; Koolen, D.A.
2015, Article / Letter to editor (Clinical Dysmorphology, vol. 24, iss. 2, (2015), pp. 86-87)
[Multiple endocrine neoplasia type 2B]
Pijnenburg-Kleizen, K.J. ; Santen, H.M. van; Koolen, D.A. ; Claahsen-van der Grinten, H.L.
2015, Article / Letter to editor (Nederlands Tijdschrift voor Geneeskunde, vol. 159, (2015), pp. A7719)
Whole exome sequencing of suspected mitochondrial patients in clinical practice
Wortmann, S.B.; Koolen, D.A. ; Smeitink, J.A.M. ; Heuvel, L.P.W.J. van den ; Rodenburg, R.J.T.
2015, Article / Letter to editor (Journal of Inherited Metabolic Disease, vol. 38, iss. 3, (2015), pp. 437-443)
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity
Rocker, N. de; Vergult, S.; Koolen, D.A. ; Jacobs, E.; Hoischen, A. ; Zeesman, S.; Bang, B.; Bena, F.; Bockaert, N.; Bongers, E.M.H.F. ; Ravel, T. de; Devriendt, K.; Giglio, S.; Faivre, L.; Joss, S.; Maas, S.; Marle, N.; Novara, F.; Nowaczyk, M.J.; Peeters, H.; Polstra, A.; Roelens, F.; Rosenberg, C.; Thevenon, J.; Tumer, Z.; Vanhauwaert, S.; Varvagiannis, K.; Willaert, A.; Willemsen, M.H. ; Willems, M.; Zuffardi, O.; Coucke, P.; Speleman, F.; Eichler, E.E.; Kleefstra, T. ; Menten, B. et al. sine al.
2015, Article / Letter to editor (Genetics in Medicine, vol. 17, iss. 6, (2015), pp. 460-466)
EPA-0225 – Neuropsychiatric phenotype of beta-propeller protein-associated neurodegeneration (BPAN)
Verhoeven, W.M.A. ; Egger, J.I.M. ; Koolen, D.A. ; IJntema, H.G. ; Bonifati, V.; Warrenburg, B.P.C. van de
2014, Article / Letter to editor (European Psychiatry, vol. 29, iss. Suppl. 1, (2014), pp. 51)
Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: Novel mutations and neuropsychiatric phenotype in three adult patients
Verhoeven, W.M.A. ; Egger, J.I.M. ; Koolen, D.A. ; Yntema, H.G. ; Olgiati, S.; Breedveld, G.J.; Bonifati, V.; Warrenburg, B.P.C. van de
2014, Article / Letter to editor (Parkinsonism & Related Disorders, vol. 20, iss. 3, (2014), pp. 332-336)
P52 Het neuropsychiatrisch phenotype van Beta-propeller protein-associated neurodegeneration (BPAN), een zeldzame NBIA
Verhoeven, W.M.A. ; Egger, J.I.M. ; Koolen, D.A. ; Yntema, H.G. ; Bonifati, V.; Warrenburg, B.P.C. van de
2014, Article in monograph or in proceedings (Abstracts posters Voorjaarscongres Nederlandse Vereniging voor Psychiatrie 2014, pp. 51)
Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: Novel mutations and neuropsychiatric phenotype in three adult patients
Verhoeven, W.M.A. ; Egger, J.I.; Koolen, D.A. ; Yntema, H.G. ; Olgiati, S.; Breedveld, G.J.; Bonifati, V.; Warrenburg, B.P.C. van de
2014, Article / Letter to editor (Parkinsonism & Related Disorders, vol. 20, iss. 3, (2014), pp. 332-336)
Variability in dentofacial phenotypes in four families with WNT10A mutations
Vink, C.P.; Ockeloen, C.W. ; Ten Kate, S.; Koolen, D.A. ; Ploos van Amstel, J.K.; Kuijpers-Jagtman, A.M. ; Heumen, C.C.M. van ; Kleefstra, T. ; Carels, C.E.
2014, Article / Letter to editor (European Journal of Human Genetics, vol. 22, iss. 9, (2014), pp. 1063-1070)
A rare complex malformation of the hand in split hand foot malformation type 3 (SHFM3)
Ockeloen, C.W. ; Cobben, J.M.; Marcelis, C.L.M. ; Koolen, D.A.
2013, Article / Letter to editor (Clinical Dysmorphology, vol. 22, iss. 3, (2013), pp. 106-108)
Hypersociability in the behavioral phenotype of 17q21.31 microdeletion syndrome
Egger, J.I.M. ; Wingbermühle, P.A.M. ; Verhoeven, W.M.A. ; Dijkman, M.W. ; Radke, S. ; Bruijn, E.R.A. de ; Vries, B. de ; Kessels, R.P.C. ; Koolen, D.A.
2013, Article / Letter to editor (American Journal of Medical Genetics. Part A, vol. 161, iss. 1, (2013), pp. 21-26)
GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila
Willemsen, M.H. ; Nijhof, B.; Fenckova, M. ; Nillesen, W.M.; Bongers, E.M.H.F. ; Castells-Nobau, A.; Asztalos, L.; Viragh, E.; Bon, B.W.M. van ; Tezel, E.; Veltman, J.A. ; Brunner, H.G. ; Vries, L.B.A. de ; Ligt, J. de ; Yntema, H.G. ; Bokhoven, H. van ; Isidor, B.; Caignec, C. Le; Lorino, E.; Asztalos, Z.; Koolen, D.A. ; Vissers, L.E.L.M. ; Schenck, A. ; Kleefstra, T. et al. sine al.
2013, Article / Letter to editor (Journal of Medical Genetics, vol. 50, iss. 8, (2013), pp. 507-514)
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases
Neveling, K. ; Feenstra, I. ; Gilissen, C.; Hoefsloot, L.H. ; Kamsteeg, E.J. ; Mensenkamp, A.R. ; Rodenburg, R.J.T. ; Yntema, H.G. ; Spruijt, L. ; Vermeer, S. ; Rinne, T.; Gassen, K.L.I. van ; Bodmer, D. ; Lugtenberg, D. ; Reuver, R. de; Buijsman, W.; Derks, R.C.; Wieskamp, N.; Heuvel, B. van den ; Ligtenberg, M.J.L. ; Kremer, H. ; Koolen, D.A. ; Warrenburg, B.P.C. van de ; Cremers, F.P.M. ; Marcelis, C.L.M. ; Smeitink, J.A.M. ; Wortmann, S.B.; Zelst-Stams, W.A.G. van ; Veltman, J.A. ; Brunner, H.G. ; Scheffer, H. ; Nelen, M.R. et al. sine al.
2013, Article / Letter to editor (Human Mutation, vol. 34, iss. 12, (2013), pp. 1721-1726)
Social cognition and the behavioural phenotype of 17q21.31 microdeletion syndrome
Egger, J.I.M. ; Wingbermühle, P.A.M. ; Verhoeven, W.M.A. ; Dijkman, M.W. ; Kessels, R.P.C. ; Koolen, D.A.
2012, Article / Letter to editor (European Psychiatry, vol. 27, iss. Supp. 1, (2012), article P-701)
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features.
Molin, A.M.; Andrieux, J.; Koolen, D.A. ; Malan, V.; Carella, M.; Colleaux, L.; Cormier-Daire, V.; David, A.; Leeuw, N. de ; Delobel, B.; Duban-Bedu, B.; Fischetto, R.; Flinter, F.; Kjaergaard, S.; Kok, F.; Krepischi, A.C.; Caignec, C. Le; Ogilvie, C.M.; Maia, S.; Mathieu-Dramard, M.; Munnich, A.; Palumbo, O.; Papadia, F.; Pfundt, R.; Reardon, W.; Receveur, A.; Rio, M. del; Ronsbro Darling, L.; Rosenberg, C.; Sa, J.; Vallee, L.; Vincent-Delorme, C.; Zelante, L.; Bondeson, M.L.; Anneren, G. et al. sine al.
2012, Article / Letter to editor (Journal of Medical Genetics, vol. 49, iss. 2, (2012), pp. 104-109)
Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing
Itsara, A.; Peart-Vissers, L.E.L.M. ; Steinberg, K.M.; Meyer, K.J.; Zody, M.C.; Koolen, D.A. ; de Ligt, J.; Cuppen, E.; Baker, C.; Lee, C.; Graves, T.A.; Wilson, R.K.; Jenkins, R.B.; Veltman, J.A. ; Eichler, E.E. et al. sine al.
2012, Article / Letter to editor (American Journal of Human Genetics, vol. 90, iss. 4, (2012), pp. 599-613)
Evaluation of PRDM9 variation as a risk factor for recurrent genomic disorders and chromosomal non-disjunction
Borel, C.; Cheung, F.; Stewart, H.; Koolen, D.A. ; Phillips, C.; Thomas, N.S.; Jacobs, P.A.; Eliez, S.; Sharp, A.J.
2012, Article / Letter to editor (Human Genetics, vol. 131, iss. 9, (2012), pp. 1519-1524)
Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism.
Koolen, D.A. ; Dupont, J.; Leeuw, N. de ; Vissers, L.E.L.M. ; Heuvel, S.P. van den; Bradbury, A.; Steer, J.; Brouwer, A.P.M. de ; Kate, L.P. Ten; Nillesen, W.M.; Vries, L.B.A. de ; Parker, M.J. et al. sine al.
2012, Article / Letter to editor (European Journal of Human Genetics, vol. 20, iss. 7, (2012), pp. 729-733)
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.
Koolen, D.A. ; Kramer, J.M. ; Neveling, K. ; Nillesen, W.M.; Moore-Barton, H.L.; Elmslie, F.V.; Toutain, A.; Amiel, J.; Malan, V.; Tsai, A.C.; Cheung, S.W.; Gilissen, C.F.H.A. ; Verwiel, E.T.P. ; Martens, S.; Feuth, T. ; Bongers, M.H.F. ; Vries, P.F. de ; Scheffer, H. ; Vissers, L.E.L.M. ; Brouwer, A.P.M. de ; Brunner, H.G. ; Veltman, J.A. ; Schenck, A. ; Yntema, H.G. ; Vries, L.B.A. de et al. sine al.
2012, Article / Letter to editor (Nature Genetics, vol. 44, iss. 6, (2012), pp. 639-641)

Now showing items 1-50 of 78

Radboud Repository

Browsing by Author "Koolen, D.A."

Search Repository

Browse

All of Repository