1994 …2020

Research output per year

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Research Output

2020

Mobility Characteristics of Children with Spastic Paraplegia Due to a Mutation in the KIF1A Gene

Van Beusichem, A. E., Nicolai, J., Verhoeven, J., Speth, L., Coenen, M., Willemsen, M. A., Kamsteeg, E. J., Stumpel, C. & Vermeulen, R. J., Apr 2020, In : Neuropediatrics. 51, 2, p. 146-153 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Primrose syndrome: Characterization of the phenotype in 42 patients

Melis, D., Carvalho, D., Barbaro-Dieber, T., Espay, A. J., Gambello, M. J., Gener, B., Gerkes, E., Hitzert, M. M., Hove, H. B., Jansen, S., Jira, P. E., Lachlan, K., Menke, L. A., Narayanan, V., Ortiz, D., Overwater, E., Posmyk, R., Ramsey, K., Rossi, A., Sandoval, R. L. & 10 others, Stumpel, C., Stuurman, K. E., Cordeddu, V., Turnpenny, P., Strisciuglio, P., Tartaglia, M., Unger, S., Waters, T., Turnbull, C. & Hennekam, R. C., Jun 2020, In : Clinical Genetics. 97, 6, p. 890-901 12 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018)

DDD Study, 15 Feb 2019, In : Nature Communications. 10, p. 1-4 4 p., 883.

Research output: Contribution to journalErratum / corrigendumAcademic

Open Access

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

Platzer, K., Sticht, H., Edwards, S. L., Allen, W., Angione, K. M., Bonati, M. T., Brasington, C., Cho, M. T., Demmer, L. A., Falik-Zaccai, T., Gamble, C. N., Hellenbroich, Y., Iascone, M., Kok, F., Mahida, S., Mandel, H., Marquardt, T., McWalter, K., Panis, B., Pepler, A. & 12 others, Pinz, H., Ramos, L., Shinde, D. N., Smith-Hicks, C., Stegmann, A. P. A., Stoebe, P., Stumpel, C. T. R. M., Wilson, C., Lemke, J. R., Di Donato, N., Miller, K. G. & Jamra, R., 7 Feb 2019, In : American Journal of Human Genetics. 104, 2, p. 203-212 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Exploring the cognitive phenotype of Kabuki (Niikawa-Kuroki) syndrome

van Dongen, L. C. M., Wingbermuhle, P. A. M., van der Veld, W. M., Stumpel, C., Kleefstra, T. & Egger, J. I. M., Jun 2019, In : Journal of Intellectual Disability Research. 63, 6, p. 498-506 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Hypermobility in individuals with Kabuki syndrome: The effect of growth hormone treatment

Schott, D. A., Stumpel, C. T. R. M. & Klaassens, M., Feb 2019, In : American Journal of Medical Genetics Part A. 179, 2, p. 219-223 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Kabuki syndrome: international consensus diagnostic criteria

Adam, M. P., Banka, S., Bjornsson, H. T., Bodamer, O., Chudley, A. E., Harris, J., Kawame, H., Lanpher, B. C., Lindsley, A. W., Merla, G., Miyake, N., Okamoto, N., Stumpel, C. T., Niikawa, N. & Kabuki Syndrome Medical Advisory Board, Feb 2019, In : Journal of Medical Genetics. 56, 2, p. 89-95 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

van der Sluijs, P. J., Jansen, S., Vergano, S. A., Adachi-Fukuda, M., Alanay, Y., AlKindy, A., Baban, A., Bayat, A., Beck-Woedl, S., Berry, K., Bijlsma, E. K., Bok, L. A., Brouwer, A. F. J., van der Burgt, I., Campeau, P. M., Canham, N., Chrzanowska, K., Chu, Y. W. Y., Chung, B. H. Y., Dahan, K. & 85 others, De Rademaeker, M., Destree, A., Dudding-Byth, T., Earl, R., Elcioglu, N., Elias, E. R., Fagerberg, C., Gardham, A., Gener, B., Gerkes, E. H., Grasshoff, U., van Haeringen, A., Heitink, K. R., Herkert, J. C., den Hollander, N. S., Horn, D., Hunt, D., Kant, S. G., Kato, M., Kayserili, H., Kersseboom, R., Kilic, E., Krajewska-Walasek, M., Lammers, K., Laulund, L. W., Lederer, D., Lees, M., Lopez-Gonzalez, V., Maas, S., Mancini, G. M. S., Marcelis, C., Martinez, F., Maystadt, I., McGuire, M., McKee, S., Mehta, S., Metcalfe, K., Milunsky, J., Mizuno, S., Moeschler, J. B., Netzer, C., Ockeloen, C. W., Oehl-Jaschkowitz, B., Okamoto, N., Olminkhof, S. N. M., Orellana, C., Pasquier, L., Pottinger, C., Riehmer, V., Robertson, S. P., Roifman, M., Rooryck, C., Ropers, F. G., Rosello, M., Ruivenkamp, C. A. L., Sagiroglu, M. S., Sallevelt, S. C. E. H., Sanchis Calvo, A., Simsek-Kiper, P. O., Soares, G., Solaeche, L., Sonmez, F. M., Splitt, M., Steenbeek, D., Stegmann, A. P. A., Stumpel, C. T. R. M., Tanabe, S., Uctepe, E., Utine, G. E., Veenstra-Knol, H. E., Venkateswaran, S., Vilain, C., Vincent-Delorme, C., Vulto-van Silfhout, A. T., Wheeler, P., Wilson, G. N., Wilson, L. C., Wollnik, B., Kosho, T., Wieczorek, D., Eichler, E., Pfundt, R., de Vries, B. B. A., Clayton-Smith, J. & Santen, G. W. E., Jun 2019, In : Genetics in Medicine. 21, 6, p. 1295-1307 13 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome (vol 21, pg 1295, 2019)

van der Sluijs, P. J., Jansen, S., Vergano, S. A., Adachi-Fukuda, M., Alanay, Y., AlKindy, A., Baban, A., Bayat, A., Beck-Woedl, S., Berry, K., Bijlsma, E. K., Bok, L. A., Brouwer, A. F. J., van der Burgt, I., Campeau, P. M., Canham, N., Chrzanowska, K., Chu, Y. W. Y., Chung, B. H. Y., Dahan, K. & 85 others, De Rademaeker, M., Destree, A., Dudding-Byth, T., Earl, R., Elcioglu, N., Elias, E. R., Fagerberg, C., Gardham, A., Gener, B., Gerkes, E. H., Grasshoff, U., van Haeringen, A., Heitink, K. R., Herkert, J. C., den Hollander, N. S., Horn, D., Hunt, D., Kant, S. G., Kato, M., Kayserili, H., Kersseboom, R., Kilic, E., Krajewska-Walasek, M., Lammers, K., Laulund, L. W., Lederer, D., Lees, M., Lopez-Gonzalez, V., Maas, S., Mancini, G. M. S., Marcelis, C., Martinez, F., Maystadt, I., McGuire, M., Mckee, S., Mehta, S., Metcalfe, K., Milunsky, J., Mizuno, S., Moeschler, J. B., Netzer, C., Ockeloen, C. W., Oehl-Jaschkowitz, B., Okamoto, N., Olminkhof, S. N. M., Orellana, C., Pasquier, L., Pottinger, C., Riehmer, V., Robertson, S. P., Roifman, M., Rooryck, C., Ropers, F. G., Rosello, M., Ruivenkamp, C. A. L., Sagiroglu, M. S., Sallevelt, S. C. E. H., Calvo, A. S., Simsek-Kiper, P. O., Soares, G., Solaeche, L., Sonmez, F. M., Splitt, M., Steenbeek, D., Stegmann, A. P. A., Stumpel, C. T. R. M., Tanabe, S., Uctepe, E., Utine, G. E., Veenstra-Knol, H. E., Venkateswaran, S., Vilain, C., Vincent-Delorme, C., Vulto-van Silfhout, A. T., Wheeler, P., Wilson, G. N., Wilson, L. C., Wollnik, B., Kosho, T., Wieczorek, D., Eichler, E., Pfundt, R., de Vries, B. B. A., Clayton-Smith, J. & Santen, G. W. E., Sep 2019, In : Genetics in Medicine. 21, 9, p. 2160-2161 2 p.

Research output: Contribution to journalErratum / corrigendumAcademic

Open Access
2018

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

Jansen, S., Hoischen, A., Coe, B. P., Carvill, G. L., Van Esch, H., Bosch, D. G. M., Andersen, U. A., Baker, C., Bauters, M., Bernier, R. A., van Bon, B. W., Claahsen-van der Grinten, H. L., Gecz, J., Gilissen, C., Grillo, L., Hackett, A., Kleefstra, T., Koolen, D., Kvarnung, M., Larsen, M. J. & 21 others, Marcelis, C., McKenzie, F., Monin, M-L., Nava, C., Schuurs-Hoeijmakers, J. H., Pfundt, R., Steehouwer, M., Stevens, S. J. C., Stumpel, C. T., Vansenne, F., Vinci, M., van de Vorst, M., de Vries, P., Witherspoon, K., Veltman, J. A., Brunner, H. G., Mefford, H. C., Romano, C., Vissers, L. E. L. M., Eichler, E. E. & de Vries, B. B. A., 1 Jan 2018, In : European Journal of Human Genetics. 26, 1, p. 54-63 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Blok, L. S., Rousseau, J., Twist, J., Ehresmann, S., Takaku, M., Venselaar, H., Rodan, L. H., Nowak, C. B., Douglas, J., Swoboda, K. J., Steeves, M. A., Sahai, I., Stumpel, C. T. R. M., Stegmann, A. P. A., Wheeler, P., Willing, M., Fiala, E., Kochhar, A., Gibson, W. T., Cohen, A. S. A. & 31 others, Agbahovbe, R., Innes, A. M., Au, P. Y. B., Rankin, J., Anderson, I. J., Skinner, S. A., Louie, R. J., Warren, H. E., Afenjar, A., Keren, B., Nava, C., Buratti, J., Isapof, A., Rodriguez, D., Lewandowski, R., Propst, J., van Essen, T., Choi, M., Lee, S., Chae, J. H., Price, S., Schnur, R. E., Douglas, G., Wentzensen, I. M., Zweier, C., Reis, A., Bialer, M. G., Moore, C., Jansen, S., Brunner, H. G. & DDD Study, 5 Nov 2018, In : Nature Communications. 9, 1, 12 p., 4619.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Client-centred clinical genetic diagnostics

Otter, M., Stumpel, C. & van Amelsvoort, T., 1 Jan 2018, In : Advances in Mental Health and Intellectual Disabilities. 12, 1, p. 1-10 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Evaluation of the most commonly used (semi-)quantitative parameters of 18F-FDG PET/CT to detect malignant transformation of neurofibromas in neurofibromatosis type 1

Brinkman, M., Jentjens, S., Boone, K., Anten - Dankers, M., Stumpel, C., Nelemans, P. & van Kroonenburgh, M., Nov 2018, In : Nuclear Medicine Communications. 39, 11, p. 961-968 8 p.

Research output: Contribution to journalReview articleAcademicpeer-review

Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up Development

Mitter, D., Lemke, J. R., Platzer, K., Jamra, R., van Amstel, H. K. P., van der Smagt, J. J., Stegmann, A. P. A., Stumpel, C. T. R. M., Stevens, S. J. C., Oberndorff, K., Marcelis, C. L., Cogne, B., Vincent, M., Simonic, I., Hague, J. & Park, S-M., Aug 2018, In : Annals of Neurology. 84, 2, p. 200-207 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Loss-of-function mutations in ADCY3 cause monogenic severe obesity

Saeed, S., Bonnefond, A., Tamanini, F., Mirza, M. U., Manzoor, J., Janjua, Q. M., Din, S. M., Gaitan, J., Milochau, A., Durand, E., Vaillant, E., Haseeb, A., De Graeve, F., Rabearivelo, I., Sand, O., Queniat, G., Boutry, R., Schott, D. A., Ayesha, H., Ali, M. & 8 others, Khan, W. I., Butt, T. A., Rinne, T., Stumpel, C., Abderrahmani, A., Lang, J., Arslan, M. & Froguel, P., 1 Feb 2018, In : Nature Genetics. 50, 2, p. 175-179 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila

Straub, J., Konrad, E. D. H., Gruner, J., Toutain, A., Bok, L. A., Cho, M. T., Crawford, H. P., Dubbs, H., Douglas, G., Jobling, R., Johnson, D., Krock, B., Mikati, M. A., Nesbitt, A., Nicolai, J., Phillips, M., Poduri, A., Ortiz-Gonzalez, X. R., Powis, Z., Santani, A. & 9 others, Smith, L., Stegmann, A. P. A., Stumpel, C., Vreeburg, M., Fliedner, A., Gregor, A., Sticht, H., Zweier, C. & Deciphering Dev Disorders Study, 4 Jan 2018, In : American Journal of Human Genetics. 102, 1, p. 44-57 14 p.

Research output: Contribution to journalArticleAcademicpeer-review

NBEA: Developmental disease gene with early generalized epilepsy phenotypes

Mulhern, M. S., Stumpel, C., Stong, N., Brunner, H. G., Bier, L., Lippa, N., Riviello, J., Rouhl, R. P. W., Kempers, M., Pfundt, R., Stegmann, A. P. A., Kukolich, M. K., Telegrafi, A., Lehman, A., Lopez-Rangel, E., Houcinat, N., Barth, M., den Hollander, N., Hoffer, M. J. V., Weckhuysen, S. & 32 others, Roovers, J., Djemie, T., Barca, D., Ceulemans, B., Craiu, D., Lemke, J. R., Korff, C., Mefford, H. C., Meyers, C. T., Siegler, Z., Hiatt, S. M., Cooper, G. M., Bebin, E. M., Snijders Blok, L., Veenstra-Knol, H. E., Baugh, E. H., Brilstra, E. H., Volker-Touw, C. M. L., van Binsbergen, E., Revah-Politi, A., Pereira, E., McBrian, D., Pacault, M., Isidor, B., Le Caignec, C., Gilbert-Dussardier, B., Bilan, F., Heinzen, E. L., Goldstein, D. B., Stevens, S. J. C., CAUSES Study & EuroEPINOMICS-RES-MAE Working Grp, Nov 2018, In : Annals of Neurology. 84, 5, p. 788-795 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

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., van Essen, T. J., Vreeburg, M., Rouhl, R. P. W., Stevens, S. J. C., Stegmann, A. P. A., Schieving, J., Pfundt, R., Dijk, K., Smeets, E., Stumpel, C. T. R. M., Bok, L. A., Cobben, J. M., Engelen, M., Mansour, S., Whiteford, M., Chandler, K. E. & 31 others, Douzgou, S., Cooper, N. S., Tan, E-C., Foo, R., Lai, A. H. M., 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., van Hoeckel, C., Anderson, M., Clowes, V. E., Siu, V. M., Selber, P., Leventer, R. J., Nellaker, C., Niessing, D. & DDD Study, 1 Feb 2018, In : Journal of Medical Genetics. 55, 2, p. 104-113 10 p.

Research output: Contribution to journalReview articleAcademicpeer-review

Open Access

Thyroid Gland F-18-FDG Uptake in Neurofibromatosis Type 1

van Lierop, Z. Y. G. J., Jentjens, S., Anten, M. H. M. E., Wierts, R., Stumpel, C. T., Havekes, B. & van Kroonenburgh, M. J. P. G., 5 Jun 2018, In : European Thyroid Journal. 7, 3, p. 155-161 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
2017

A novel mutation in L1CAM causes a mild form of L1 syndrome: a case report

Otter, M., Wevers, M., Pisters, M., Pfundt, R., Vos, Y., Nievelstein, R. J. & Stumpel, C., Aug 2017, In : Clinical Case Reports. 5, 8, p. 1213-1217 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder

Koemans, T. S., Kleefstra, T., Chubak, M. C., Stone, M. H., Reijnders, M. R. F., de Munnik, S., Willemsen, M. H., Fenckova, M., Stumpel, C. T. R. M., Bok, L. A., Saenz, M. S., Byerly, K. A., Baughn, L. B., Stegmann, A. P. A., Pfundt, R., Zhou, H., van Bokhoven, H., Schenck, A. & Kramer, J. M., Oct 2017, In : Plos Genetics. 13, 10, 24 p., 1006864.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Growth Hormone Therapy in Children with Kabuki Syndrome: 1-year Treatment Results

Schott, D. A., Gerver, W. J. M. & Stumpel, C. T. R. M., 2017, In : Hormone Research in Paediatrics. 88, 3-4, p. 1-7 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation

Yan, K., Rousseau, J., Littlejohn, R. O., Kiss, C., Lehman, A., Rosenfeld, J. A., Stumpel, C. T. R., Stegmann, A. P. A., Robak, L., Scaglia, F., Thi Tuyet Mai Nguyen, Fu, H., Ajeawung, N. F., Camurri, M. V., Li, L., Gardham, A., Panis, B., Almannai, M., Sacoto, M. J. G., Baskin, B. & 16 others, Ruivenkamp, C., Xia, F., Bi, W., Cho, M. T., Potjer, T. P., Santen, G. W. E., Parker, M. J., Canham, N., McKinnon, M., Potocki, L., MacKenzie, J. J., Roeder, E. R., Campeau, P. M., Yang, X-J., DDD Study & CAUSES Study, 5 Jan 2017, In : American Journal of Human Genetics. 100, 1, p. 91-104 14 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield

Overwater, E., Floor, K., van Beek, D., de Boer, K., van Dijk, T., Hilhorst-Hofstee, Y., Hoogeboom, A. J. M., van Kaam, K. J., van de Kamp, J. M., Kempers, M., Krapels, I. P. C., Kroes, H. Y., Loeys, B., Salemink, S., Stumpel, C. T. R. M., Verhoeven, V. J. M., Wijnands-van den Berg, E., Cobben, J. M., van Tintelen, J. P., Weiss, M. M. & 2 others, Houweling, A. C. & Maugeri, A., Sep 2017, In : European Journal of Medical Genetics. 60, 9, p. 465-473 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

The 6p25 deletion syndrome: An update on a rare neurocristopathy

de Vos, I. J. H. M., Stegmann, A. P. A., Webers, C. A. B. & Stumpel, C. T. R. M., 2017, In : Ophthalmic Genetics. 38, 2, p. 101-107 7 p.

Research output: Contribution to journalReview articleAcademicpeer-review

Open Access

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

Fountain, M. D., Aten, E., Cho, M. T., Juusola, J., Walkiewicz, M. A., Ray, J. W., Xia, F., Yang, Y., Graham, B. H., Bacino, C. A., Potocki, L., van Haeringen, A., Ruivenkamp, C. A. L., Mancias, P., Northrup, H., Kukolich, M. K., Weiss, M. M., van Ravenswaaij-Arts, C. M. A., Mathijssen, I. B., Levesque, S. & 19 others, Meeks, N., Rosenfeld, J. A., Lemke, D., Hamosh, A., Lewis, S. K., Race, S., Stewart, L. L., Hay, B., Lewis, A. M., Guerreiro, R. L., Bras, J. T., Martins, M. P., Derksen-Lubsen, G., Peeters, E., Stumpel, C., Stegmann, S., Bok, L. A., Santen, G. W. E. & Schaaf, C. P., Jan 2017, In : Genetics in Medicine. 19, 1, p. 45-52 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

TSC2 c.1864C > T Variant Aassociated with Mild Cases of Tuberous Sclerosis Complex

Farach, L. S., Gibson, W. T., Sparagana, S. P., Nellist, M., Stumpel, C. T. R. M., Hietala, M., Friedman, E., Pearson, D. A., Creighton, S. P., Wagemans, A., Segel, R., Ben-Shalom, E., Au, K. S. & Northrup, H., Mar 2017, In : American Journal of Medical Genetics Part A. 173, 3, p. 771-775 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

2016

Body proportions in children with Kabuki syndrome

Penders, B., Schott, N., Gerver, W. J. M. & Stumpel, C. T. R. M., Mar 2016, In : American Journal of Medical Genetics Part A. 170, 3, p. 610–614 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

Kim, J-H., Shinde, D. N., Reijnders, M. R. F., Hauser, N. S., Belmonte, R. L., Wilson, G. R., Bosch, D. G. M., Bubulya, P. A., Shashi, V., Petrovski, S., Stone, J. K., Park, E. Y., Veltman, J., Sinnema, M., Stumpel, C., Draaisma, J. M., Nicolai, J., Yntema, H. G., Lindstrom, K., de Vries, B. B. A. & 44 others, Jewett, T., Santoro, S. L., Vogt, J., Bachman, K. K., Seeley, A. H., Krokosky, A., Turner, C., Rohena, L., Hempel, M., Kortuem, F., Lessel, D., Neu, A., Strom, T. M., Wieczorek, D., Bramswig, N., Laccone, F. A., Behunova, J., Rehder, H., Gordon, C. T., Rio, M., Romana, S., Tang, S., El-Khechen, D., Cho, M. T., McWalter, K., Douglas, G., Baskin, B., Begtrup, A., Funari, T., Schoch, K., Stegmann, A. P. A., Stevens, S. J. C., Zhang, D-E., Traver, D., Yao, X., MacArthur, D. G., Brunner, H. G., Mancini, G. M., Myers, R. M., Owen, L. B., Lim, S-T., Stachura, D. L., Vissers, L. E. L. M. & Ahn, E-Y. E., 1 Sep 2016, In : American Journal of Human Genetics. 99, 3, p. 711-719

Research output: Contribution to journalArticleAcademicpeer-review

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

Shashi, V., Pena, L. D. M., Kim, K., Burton, B., Hempel, M., Schoch, K., Walkiewicz, M., McLaughlin, H. M., Cho, M., Stong, N., Hickey, S. E., Shuss, C. M., Freemark, M. S., Bellet, J. S., Keels, M. A., Bonner, M. J., El-Dairi, M., Butler, M., Kranz, P. G., Stumpel, C. T. R. M. & 14 others, Klinkenberg, S., Oberndorff, K., Alawi, M., Santer, R., Petrovski, S., Kuismin, O., Korpi-Heikkila, S., Pietilainen, O., Aarno, P., Kurki, M. I., Hoischen, A., Need, A. C., Goldstein, D. B. & Kortuem, F., 6 Oct 2016, In : American Journal of Human Genetics. 99, 4, p. 991-999

Research output: Contribution to journalArticleAcademicpeer-review

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

Stessman, H. A. F., Willemsen, M. H., Fenckova, M., Penn, O., Hoischen, A., Xiong, B., Wang, T., Hoekzema, K., Vives, L., Voge, I., Brunner, H. G., van der Burgt, I., Ockeloen, C. W., Schuurs-Hoeijmakers, J. H., Wassink-Ruiter, J. S. K., Stumpel, C., Stevens, S. J. C., Vles, H. S., Marcelis, C. M., van Bokhoven, H. & 31 others, Cantagre, V., Colleaux, L., Nicouleau, M., Lyonnet, S., Bernier, R. A., Gerdts, J., Coe, B. P., Romano, C., Alberti, A., Grillo, L., Scuderi, C., Nordenskjold, M., Kvarnung, M., Guo, H., Xia, K., Piton, A., Gerard, B., Genevieve, D., Delobel, B., Lehalle, D., Perrin, L., Prieur, F., Thevenon, J., Gecz, J., Shaw, M., Pfundt, R., Keren, B., Jacquette, A., Schenck, A., Eichler, E. E. & Kleefstra, T., 3 Mar 2016, In : American Journal of Human Genetics. 98, 3, p. 541-552

Research output: Contribution to journalArticleAcademicpeer-review

Growth Hormone Stimulation Tests in Children with Kabuki Syndrome

Schott, D. A., Gerver, W. J. M. & Stumpel, C. T. R. M., 2016, In : Hormone Research in Paediatrics. 86, 5, p. 319-324

Research output: Contribution to journalArticleAcademicpeer-review

Growth Pattern in Kabuki Syndrome with a KMT2D Mutation

Schott, D. A., Blok, M. J., Gerver, W., Devriendt, K., Zimmermann, L. J. I. & Stumpel, C. T. R. M., Dec 2016, In : American Journal of Medical Genetics Part A. 170, 12, p. 3172-3179

Research output: Contribution to journalArticleAcademicpeer-review

Phenotype and Genotype in 52 Patients with Rubinstein-Taybi Syndrome Caused by EP300 Mutations

Fergelot, P., Van Belzen, M., Van Gils, J., Afenjar, A., Armour, C. M., Arveiler, B., Beets, L., Burglen, L., Busa, T., Collet, M., Deforges, J., de Vries, B. B. A., Dominguez Garrido, E., Dorison, N., Dupont, J., Francannet, C., Garcia-Minaur, S., Gabau Vila, E., Gebre-Medhin, S., Gener Querol, B. & 33 others, Genevieve, D., Gerard, M., Gervasini, C. G., Goldenberg, A., Josifova, D., Lachlan, K., Maas, S., Maranda, B., Moilanen, J. S., Nordgren, A., Parent, P., Rankin, J., Reardon, W., Rio, M., Roume, J., Shaw, A., Smigiel, R., Sojo, A., Solomon, B., Stembalska, A., Stumpel, C., Suarez, F., Terhal, P., Thomas, S., Touraine, R., Verloes, A., Vincent-Delorme, C., Wincent, J., Peters, D. J. M., Bartsch, O., Larizza, L., Lacombe, D. & Hennekam, R. C., Dec 2016, In : American Journal of Medical Genetics Part A. 170, 12, p. 3069-3082

Research output: Contribution to journalArticleAcademicpeer-review

Refining the Diagnosis of Congenital Nephrotic Syndrome on Long-term Stored Tissue: c.1097G>A (p.(Arg366His)) WT1 Mutation Causing Denys Drash Syndrome

Hillen, L. M., Kamsteeg, E. J., Schoots, J., Tiebosch, A. T., Speel, E. J., Roemen, G. M., Peutz - Kootstra, C. & Stumpel, C. T. R. M., 3 Mar 2016, In : Fetal and Pediatric Pathology. 35, 2, p. 112-119

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

The cilium: a cellular antenna with an influence on obesity risk

Mariman, E., Vink, R., Roumans, N., Bouwman, F., Stumpel, C., Aller, E., van Baak, M. & Wang, P., 28 Aug 2016, In : British Journal of Nutrition. 116, 4, p. 576-592 17 p.

Research output: Contribution to journalArticleAcademicpeer-review

2015

Effect of Comprehensive Oncogenetics Training Interventions for General Practitioners, Evaluated at Multiple Performance Levels

Houwink, E. J. F., Muijtjens, A. M. M., van Teeffelen, S. R., Henneman, L., Rethans, J. J., Jacobi, F., van der Jagt, L., Stirbu, I., van Luijk, S. J., Stumpel, C. T. R. M., Meijers-Heijboer, H. E., van der Vleuten, C., Cornel, M. C. & Dinant, G. J., 1 Jan 2015, In : PLOS ONE. 10, 4, e0122648.

Research output: Contribution to journalArticleAcademicpeer-review

Phenotypic and molecular insights into CASK-related disorders in males

Moog, U., Bierhals, T., Brand, K., Bautsch, J., Biskup, S., Brune, T., Denecke, J., de Die-Smulders, C. E., Evers, C., Hempel, M., Henneke, M., Yntema, H., Menten, B., Pietz, J., Pfundt, R., Schmidtke, J., Steinemann, D., Stumpel, C. T., Van Maldergem, L. & Kutsche, K., 12 Apr 2015, In : Orphanet Journal of Rare Diseases. 10, 44.

Research output: Contribution to journalArticleAcademicpeer-review

2014

Endochondral ossification in a case of progressive osseous heteroplasia in a young female child

Schrander, D. E., Welting, T. J., Caron, M. M. J., Schrander, J. J. P., van Rhijn, L. W., Körver-Keularts, I. & Schrander-Stumpel, C. T. R. M., Sep 2014, In : Journal of Pediatric Orthopaedics-Part B. 23, 5, p. 477-484 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Essential timing of orthopaedic treatment in children with Ehlers-Danlos syndrome arthrochalasia type: a case report

van Rooij, M. J., Staal, H., Klaassens, M., van Rhijn, L. & Stumpel, C. T. R. M., 1 Jan 2014, In : F1000Research. 3, 39.

Research output: Contribution to journalArticleAcademicpeer-review

Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

University of Washington Center for Mendelian Genomics, 1 May 2014, In : American Journal of Human Genetics. 94, 5, p. 734-744

Research output: Contribution to journalArticleAcademicpeer-review

2013

SAMS, a Syndrome of Short Stature, Auditory-Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities Is a Unique Neurocristopathy Caused by Mutations in Goosecoid

Parry, D. A., Logan, C. V., Stegmann, A. P. A., Abdelhamed, Z. A., Calder, A., Khan, S., Bonthron, D. T., Clowes, V. E., Sheridan, E., Ghali, N., Chudley, A. E., Dobbie, A., Stumpel, C. T. R. M. & Johnson, C. A., 5 Dec 2013, In : American Journal of Human Genetics. 93, 6, p. 1135-1142

Research output: Contribution to journalArticleAcademicpeer-review

2006

Communication and risk presentation in genetic counseling; the development of a checklist.

Fransen, M., Meertens, R. M. & Schrander-Stumpel, C., 1 Jan 2006, In : Patient Education and Counseling. 61, 1, p. 126-133

Research output: Contribution to journalArticleAcademicpeer-review

Management of a severe forceful breather with Rett syndrome using carbogen

Smeets, E. E. J., Julu, P. O., van Waardenburg, D. A., Engerstrom, I. W., Hansen, S., Apartopoulos, F., Curfs, L. M. G. & Schrander-Stumpel, C. T., 1 Jan 2006, In : Brain & Development. 28, 10, p. 625-632

Research output: Contribution to journalArticleAcademicpeer-review

2005

Expressive language in children with Kabuki syndrome

Defloor, T., van Borsel, J., Schrander-Stumpel, C. T. R. M. & Curfs, L. M. G., 1 Jan 2005, In : American Journal of Medical Genetics Part A. 132A, 3, p. 256-259

Research output: Contribution to journalArticleAcademicpeer-review

Kabuki syndrome: clinical data in 20 patients, literature review and further guidelines for preventive management

Schrander-Stumpel, C. T. R. M., Spruijt, L., Curfs, L. M. G., Defloor, T. & Schrander, J. J. P., 1 Jan 2005, In : American Journal of Medical Genetics Part A. 132, 3, p. 234-243

Research output: Contribution to journalArticleAcademicpeer-review

2003

Zeldzame aandoeningen in klinisch genetisch perspectief

Schrander-Stumpel, C. T. R. M., 20 Jun 2003, Maastricht: Maastricht University.

Research output: Book/ReportInaugural speechPopular

Open Access
File
138 Downloads (Pure)
2001

Diagnostiek van aangeboren afwijkingen en verstandelijke handicaps: een klinisch-genetische benadering.

Schrander-Stumpel, C. T. R. M., Schrander, J. J. P. & Rubio-Gozalbo, M. E., 1 Jan 2001, In : Ggd-Nieuws. 6, p. 5-9 5 p.

Research output: Contribution to journalArticleProfessional

Diagnostiek van mentale retardatie.

Schrander-Stumpel, C. T. R. M., Schrander, J. J. P. & Rubio-Gozalbo, M. E., 1 Jan 2001, Proceedings Applicatiecursus CB-artsen..

Research output: Chapter in Book/Report/Conference proceedingConference article in proceedingProfessional