Browsing by Author "Koolen, D.A."

Now showing items 1-50 of 76

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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
Neuropsychological phenotyping of genetic syndromes
Egger, J.I.M. ; Koolen, D.A. ; Wingbermühle, P.A.M. ; Verhoeven, W.M.A. ; Kleefstra, T. ; Vries, L.B.A. de
2012, Article / Letter to editor (European Psychiatry, vol. 27, iss. Supp. 1, (2012), article W01-03)
Diagnostic exome sequencing in persons with severe intellectual disability
de Ligt, J.; Willemsen, M.H. ; van Bon, B.W. ; Kleefstra, T. ; Yntema, H.G. ; Kroes, T.; Vulto-van Silfhout, A.T. ; Koolen, D.A. ; de Vries, P.; Gilissen, C.F.H.A. ; del Rosario, M.; Hoischen, A. ; Scheffer, H. ; Vries, L.B.A. de ; Brunner, H.G. ; Veltman, J.A. ; Peart-Vissers, L.E.L.M. et al. sine al.
2012, Article / Letter to editor (The New England Journal of Medicine, vol. 367, iss. 20, (2012), pp. 1921-1929)

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