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Alexander Stegmann

20102020

Research output per year

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Research Output

  • 38 Article
  • 3 Erratum / corrigendum
  • 3 Review article
  • 2 Comment/Letter to the editor

Adducted thumbs: A clinical clue to genetic diagnosis

Verhagen, J. M. A., Schrander-Stumpel, C. T. R. M., Blezer, M. M. J., Weber, J. W., Schrander, J. J. P., Rubio-Gozalbo, M. E., Bakker, J. A., Stegmann, A. P. A., Vos, Y. J. & Frints, S. G. M., Mar 2013, In : European Journal of Medical Genetics. 56, 3, p. 153-158

Research output: Contribution to journalArticleAcademicpeer-review

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

Biallelicframeshift mutation in RIN2 in a patient with intellectual disability and cataract, without RIN2 syndrome

van Amen-Hellebrekers, C. J. M., Jansen, S., Stegmann, A. P. A., Stevens, S. J. C., Pfundt, R. & de Vries, B. B. A., Dec 2017, In : American Journal of Medical Genetics Part A. 173, 12, p. 3238-3240 3 p.

Research output: Contribution to journalComment/Letter to the editorAcademicpeer-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

Congenital hydrocephalus in clinical practice: A genetic diagnostic approach

Verhagen, J. M. A., Schrander-Stumpel, C. T. R. M., Krapels, P. C., de Die-Smulders, C. E. M., van Lint, F. H. M., Willekes, C., Weber, J. W., Gavilanes, A. W. D., Macville, M. V. E., Stegmann, A. P. A., Engelen, J. J. M., Bakker, J., Vos, Y. J. & Frints, S. G. M., 2011, In : European Journal of Medical Genetics. 54, 6, p. E542-E547

Research output: Contribution to journalArticleAcademicpeer-review

Cutaneous clues for diagnosing X-chromosomal disorders

Vreeburg, M., Sallevelt, C. E. H., Stegmann, A. P. A., van Geel, M., Detisch, Y. J. H. A., Schrander-Stumpel, C. T. R. M., van Steensel, M. A. M. & Marcus-Soekarman, D., Apr 2014, In : Clinical Genetics. 85, 4, p. 328-335

Research output: Contribution to journalArticleAcademicpeer-review

Defective NDUFA9 as a novel cause of neonatally fatal complex I disease

van den Bosch, B. J. C., Gerards, M., Sluiter, W., Stegmann, A. P. A., Jongen, E. L. C., Hellebrekers, D. M. E. I., Oegema, R., Lambrichs, E. H., Prokisch, H., Danhauser, K., Schoonderwoerd, K., de Coo, I. F. M. & Smeets, H. J. M., Jan 2012, In : Journal of Medical Genetics. 49, 1, p. 10-5 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects

Slavotinek, A., Risolino, M., Losa, M., Cho, M. T., Monaghan, K. G., Schneidman-Duhovny, D., Parisotto, S., Herkert, J. C., Stegmann, A. P. A., Miller, K., Shur, N., Chui, J., Muller, E., DeBrosse, S., Szot, J. O., Chapman, G., Pachter, N. S., Winlaw, D. S., Mendelsohn, B. A., Dalton, J. & 7 others, Sarafoglou, K., Karachunski, P. I., Lewis, J. M., Pedro, H., Dunwoodie, S. L., Selleri, L. & Shieh, J., 15 Dec 2017, In : Human Molecular Genetics. 26, 24, p. 4849-4860 12 p.

Research output: Contribution to journalArticleAcademicpeer-review

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., de Burca, A., Henderson, A., Kraus, A., Mikat, B., de Vries, B. B. A., Isidor, B., Kerr, B., Marcelis, C., Schluth-Bolard, C., Deshpande, C., Ruivenkamp, C. A. L., Wieczorek, D., Baralle, D., Blair, E. M., Engels, H. & 31 others, 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., van Dooren, M. F., 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., van der Spek, P. J., Stegmann, A. P. A., Brunner, H. G. & Deciphering Dev Disorders Study, 7 Jun 2018, In : American Journal of Human Genetics. 102, 6, p. 1195-1203 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

Lessel, D., Schob, C., Kuery, S., Reinders, M. R. F., Harel, T., Eldomery, M. K., Coban-Akdemir, Z., Denecke, J., Edvardson, S., Colin, E., Stegmann, A. P. A., Gerkes, E. H., Tessarech, M., Bonneau, D., Barth, M., Besnard, T., Cogne, B., Revah-Politi, A., Strom, T. M., Rosenfeld, J. A. & 24 others, 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., DDD Study & C4RCD Res Grp, 2 Nov 2017, In : American Journal of Human Genetics. 101, 5, p. 716-724 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder (vol 101, pg 716, 2017)

DDD Study & C4RCD Res Grp, 4 Jan 2018, In : American Journal of Human Genetics. 102, 1, p. 196-196 1 p.

Research output: Contribution to journalErratum / corrigendumAcademic

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 variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review

van den Akker, W. M. R., Brummelman, I., Martis, L. M., Timmermans, R. N., Pfundt, R., Kleefstra, T., Willemsen, M. H., Gerkes, E. H., Herkert, J. C., van Essen, A. J., Rump, P., Vansenne, F., Terhal, P. A., van Haelst, M. M., Cristian, I., Turner, C. E., Cho, M. T., Begtrup, A., Willaert, R., Fassi, E. & 4 others, van Gassen, K. L. I., Stegmann, A. P. A., de Vries, B. B. A. & Schuurs-Hoeijmakers, J. H. M., 1 May 2018, In : Clinical Genetics. 93, 5, p. 1000-1007 8 p.

Research output: Contribution to journalReview articleAcademicpeer-review

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

Jansen, S., van der Werf, I. M., Innes, A. M., Afenjar, A., Agrawal, P. B., Anderson, I. J., Atwal, P. S., van Binsbergen, E., van den Boogaard, M-J., Castiglia, L., Coban-Akdemir, Z. H., van Dijck, A., Doummar, D., van Eerde, A. M., van Essen, A. J., van Gassen, K. L., Sacoto, M. J. G., van Haelst, M. M., Iossifov, I., Jackson, J. L. & 31 others, Judd, E., Kaiwar, C., Keren, B., Klee, E. W., Wassink-Ruiter, J. S. K., Meuwissen, M. E., Monaghan, K. G., de Munnik, S. A., Nava, C., Ockeloen, C. W., Pettinato, R., Racher, H., Rinne, T., Romano, C., Sanders, V. R., Schnur, R. E., Smeets, E. J., Stegmann, A. P. A., Stray-Pedersen, A., Sweetser, D. A., Terhal, P. A., Tveten, K., VanNoy, G. E., de Vries, P. F., Waxler, J. L., Willing, M., Pfundt, R., Veltman, J. A., Kooy, R. F., Vissers, L. E. L. M. & de Vries, B. B. A., May 2019, In : European Journal of Human Genetics. 27, 5, p. 738-746 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms

Powis, Z., Petrik, I., Cohen, J. S., Escolar, D., Burton, J., van Ravenswaaij-Arts, C. M. A., Sival, D. A., Stegmann, A. P. A., Kleefstra, T., Pfundt, R., Chikarmane, R., Begtrup, A., Huether, R., Tang, S. & Shinde, D. N., 1 May 2018, In : Clinical Genetics. 93, 5, p. 1030-1038 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

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

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

Pfundt, R., del Rosario, M., Vissers, L. E. L. M., Kwint, M. P., Janssen, I. M., de Leeuw, N., Yntema, H. G., Nelen, M. R., Lugtenberg, D., Kamsteeg, E-J., Wieskamp, N., Stegmann, A. P. A., Stevens, S. J. C., Rodenburg, R. J. T., Simons, A., Mensenkamp, A. R., Rinne, T., Gilissen, C., Scheffer, H., Veltman, J. A. & 1 others, Hehir-Kwa, J. Y., Jun 2017, In : Genetics in Medicine. 19, 6, p. 667-675 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability

Snoeijen-Schouwenaars, F. M., van Ool, J. S., Verhoeven, J. S., van Mierlo, P., Braakman, H. M. H., Smeets, E. E., Nicolai, J., Schoots, J., Teunissen, M. W. A., Rouhl, R. P. W., Tan, I. Y., Yntema, H. G., Brunner, H. G., Pfundt, R., Stegmann, A. P., Kamsteeg, E-J., Schelhaas, H. J. & Willemsen, M. H., Jan 2019, In : Epilepsia. 60, 1, p. 155-164 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

Guo, H., Bettella, E., Marcogliese, P. C., Zhao, R., Andrews, J. C., Nowakowski, T. J., Gillentine, M. A., Hoekzema, K., Wang, T., Wu, H., Jangam, S., Liu, C., Ni, H., Willemsen, M. H., van Bon, B. W., Rinne, T., Stevens, S. J. C., Kleefstra, T., Brunner, H. G., Yntema, H. G. & 31 others, Long, M., Zhao, W., Hu, Z., Colson, C., Richard, N., Schwartz, C. E., Romano, C., Castiglia, L., Bottitta, M., Dhar, S. U., Erwin, D. J., Emrick, L., Keren, B., Afenjar, A., Zhu, B., Bai, B., Stankiewicz, P., Herman, K., Mercimek-Andrews, S., Juusola, J., Wilfert, A. B., Abou Jamra, R., Buettner, B., Mefford, H. C., Muir, A. M., Scheffer, I. E., Regan, B. M., Malone, S., Gecz, J., Stegmann, A. P. A. & Univ Washington Ctr Mendelian Geno, 15 Oct 2019, In : Nature Communications. 10, 17 p., 4679.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

Guo, H., Li, Y., Shen, L., Wang, T., Jia, X., Liu, L., Xu, T., Ou, M., Hoekzema, K., Wu, H., Gillentine, M. A., Liu, C., Ni, H., Peng, P., Zhao, R., Zhang, Y., Phornphutkul, C., Stegmann, A. P. A., Prada, C. E., Hopkin, R. J. & 53 others, Shieh, J. T., McWalter, K., Monaghan, K. G., van Hasselt, P. M., van Gassen, K., Bai, T., Long, M., Han, L., Quan, Y., Chen, M., Zhang, Y., Li, K., Zhang, Q., Tan, J., Zhu, T., Liu, Y., Pang, N., Peng, J., Scott, D. A., Lalani, S. R., Azamian, M., Mancini, G. M. S., Adams, D. J., Kvarnung, M., Lindstrand, A., Nordgren, A., Pevsner, J., Osei-Owusu, I. A., Romano, C., Calabrese, G., Galesi, O., Gecz, J., Haan, E., Ranells, J., Racobaldo, M., Nordenskjold, M., Madan-Khetarpal, S., Sebastian, J., Ball, S., Zou, X., Zhao, J., Hu, Z., Xia, F., Liu, P., Rosenfeld, J. A., de Vries, B. B. A., Bernier, R. A., Xu, Z-Q. D., Li, H., Xie, W., Hufnagel, R. B., Eichler, E. E. & Xia, K., Sep 2019, In : Science advances. 5, 9, 16 p., 2166.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype

de Vos, I. J. H. M., Tao, E. Y., Ong, S. L. M., Goggi, J. L., Scerri, T., Wilson, G. R., Low, C. G. M., Wong, A. S. W., Grussu, D., Stegmann, A. P. A., van Geel, M., Janssen, R., Amor, D. J., Bahlo, M., Dunn, N. R., Carney, T. J., Lockhart, P. J., Coull, B. J. & van Steensel, M. A. M., 15 Aug 2018, In : Human Molecular Genetics. 27, 16, p. 2775-2788 14 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

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

Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability

Bramswig, N. C., Luedecke, H-J., Hamdan, F. F., Altmueller, J., Beleggia, F., Elcioglu, N. H., Freyer, C., Gerkes, E. H., Demirkol, Y. K., Knupp, K. G., Kuechler, A., Li, Y., Lowenstein, D. H., Michaud, J. L., Park, K., Stegmann, A. P. A., Veenstra-Knol, H. E., Wieland, T., Wollnik, B., Engels, H. & 3 others, Strom, T. M., Kleefstra, T. & Wieczorek, D., Jul 2017, In : Human Genetics. 136, 7, p. 821-834 14 p.

Research output: Contribution to journalArticleAcademicpeer-review

Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability

Marom, R., Jain, M., Burrage, L. C., Song, I-W., Graham, B. H., Brown, C. W., Stevens, S. J. C., Stegmann, A. P. A., Gunter, A. T., Kaplan, J. D., Gavrilova, R. H., Shinawi, M., Rosenfeld, J. A., Bae, Y., Tran, A. A., Chen, Y., Lu, J. T., Gibbs, R. A., Eng, C., Yang, Y. & 4 others, Rousseau, J., de Vries, B. B. A., Campeau, P. M. & Lee, B., Oct 2017, In : Human Mutation. 38, 10, p. 1365-1371 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

Loss-of-function zinc finger mutation in the EGLN1 gene associated with erythrocytosis

Sinnema, M., Song, D., Guan, W., Janssen, J. W. H., van Wijk, R., Navalsky, B. E., Peng, K., Donker, A. E., Stegmann, A. P. A. & Lee, F. S., 27 Sep 2018, In : Blood. 132, 13, p. 1455-1458 4 p.

Research output: Contribution to journalComment/Letter to the editorAcademicpeer-review

MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

Burnichon, N., Cascon, A., Schiavi, F., Morales, N. P., Comino-Mendez, I., Abermil, N., Inglada-Perez, L., de Cubas, A. A., Amar, L., Barontini, M., de Quiros, S. B., Bertherat, J., Bignon, Y-J., Blok, M. J., Bobisse, S., Borrego, S., Castellano, M., Chanson, P., Chiara, M-D., Corssmit, E. P. M. & 41 others, Giacche, M., de Krijger, R. R., Ercolino, T., Girerd, X., Gomez-Garcia, E. B., Gomez-Grana, A., Guilhem, I., Hes, F. J., Honrado, E., Korpershoek, E., Lenders, J. W. M., Leton, R., Mensenkamp, A. R., Merlo, A., Mori, L., Murat, A., Pierre, P., Plouin, P-F., Prodanov, T., Quesada-Chameco, M., Qin, N., Rapizzi, E., Raymond, V., Reisch, N., Roncador, G., Ruiz-Ferrer, M., Schillo, F., Stegmann, A. P. A., Suarez, C., Taschin, E., Timmers, H. J. L. M., Tops, C. M. J., Urioste, M., Beuschlein, F., Pacak, K., Mannelli, M., Dahia, P. L. M., Opocher, G., Eisenhofer, G., Gimenez-Roqueplo, A-P. & Robledo, M., 15 May 2012, In : Clinical Cancer Research. 18, 10, p. 2828-2837

Research output: Contribution to journalArticleAcademicpeer-review

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

Lelieveld, S. H., Reijnders, M. R. F., Pfundt, R., Yntema, H. G., Kamsteeg, E-J., de Vries, P., de Vries, B. B. A., Willemsen, M. H., Kleefstra, T., Lohner, K., Vreeburg, M., Stevens, S. J. C., van der Burgt, I., Bongers, E. M. H. F., Stegmann, A. P. A., Rump, P., Rinne, T., Nelen, M. R., Veltman, J., Vissers, L. E. L. M. & 2 others, Brunner, H. G. & Gilissen, C., Sep 2016, In : Nature Neuroscience. 19, 9, p. 1194-1196

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

MLL2 Mutation Spectrum in 45 Patients with Kabuki Syndrome

Paulussen, A. D. C., Stegmann, A. P. A., Blok, M. J., Tserpelis, D., Posma-Velter, C., Detisch, Y., Smeets, E. E. J. G. L., Wagemans, A. M. A., Schrander, J. J. P., van den Boogaard, M. J. H., van der Smagt, J. J., van Haeringen, A., Stolte-Dijkstra, I., Kerstjens-Frederikse, W. S., Mancini, G. M. S., Wessels, M. W., Hennekam, R. C. M., Vreeburg, M., Geraedts, J., de Ravel, T. & 4 others, Fryns, J-P., Smeets, H. J. T., Devriendt, K. & Schrander-Stumpel, C. T. R. M., Feb 2011, In : Human Mutation. 32, 2, p. E2018-E2025

Research output: Contribution to journalArticleAcademicpeer-review

Mutations in RPSA and NKX2-3 link development of the spleen and intestinal vasculature

Kerkhofs, C., Stevens, S. J. C., Faust, S. N., Rae, W., Williams, A. P., Wurm, P., Ostern, R., Fockens, P., Wuerfel, C., Laass, M., Kokke, F., Stegmann, A. P. A. & Brunner, H. G., Jan 2020, In : Human Mutation. 41, 1, p. 196-202 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

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.

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Open Access

MYT1L is a Candidate Gene for Intellectual Disability in Patients With 2p25.3 (2pter) Deletions

Stevens, S. J. C., van Ravenswaaij-Arts, C. M. A., Janssen, J. W. H., Wassink-Ruiter, J. S. K., van Essen, A. J., Dijkhuizen, T., van Rheenen, J., Heuts-Vijgen, R., Stegmann, A. P. A., Smeets, E. E. J. G. L. & Engelen, J. J. M., Nov 2011, In : American Journal of Medical Genetics Part A. 155A, 11, p. 2739-2745

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

PRRT2-related phenotypes in patients with a 16p11.2 deletion

Vlaskamp, D. R. M., Callenbach, P. M. C., Rump, P., Giannini, L. A. A., Brilstra, E. H., Dijkhuizen, T., Vos, Y. J., van der Kevie-Kersemaekers, A-M. F., Knijnenburg, J., de Leeuw, N., van Minkelen, R., Ruivenkamp, C. A. L., Stegmann, A. P. A., Brouwer, O. F. & van Ravenswaaij-Arts, C. M. A., Apr 2019, In : European Journal of Medical Genetics. 62, 4, p. 265-269 5 p.

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Open Access

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

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

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SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

Dubail, J., Huber, C., Chantepie, S., Sonntag, S., Tuysuz, B., Mihci, E., Gordon, C. T., Steichen-Gersdorf, E., Amiel, J., Nur, B., Stolte-Dijkstra, I., van Eerde, A. M., van Gassen, K. L., Breugem, C. C., Stegmann, A., Lekszas, C., Maroofian, R., Karimiani, E. G., Bruneel, A., Seta, N. & 4 others, Munnich, A., Papy-Garcia, D., De La Dure-Molla, M. & Cormier-Daire, V., 6 Aug 2018, In : Nature Communications. 9, 15 p., 3087.

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Open Access

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 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

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.

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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.

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Open Access

The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes

Paulussen, A. D. C., Schrander-Stumpel, C. T. R. M., Tserpelis, D. C. J., Spee, M. K. M., Stegmann, A. P. A., Mancini, G. M. S., Brooks, A. S., Collee, M. J., Maat-Kievit, A., Simon, M. E. H., van Bever, Y., Stolte-Dijkstra, I., Kerstjens-Frederikse, W. S., Herkert, J. C., van Essen, A. J., Lichtenbelt, K. D., van Haeringen, A., Kwee, M. L., Lachmeijer, A. M. A., Tan-Sindhunata, G. M. B. & 7 others, van Maarle, M. C., Arens, Y. H. J. M., Smeets, E. E. J. G. L., de Die-Smulders, C. E. M., Engelen, J. J. M., Smeets, H. J. M. & Herbergs, J., 10 Sep 2010, In : European Journal of Human Genetics. 18, 9, p. 999-1005

Research output: Contribution to journalArticleAcademicpeer-review

Truncating de novo mutations in the Kruppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms

Stevens, S. J. C., van Essen, A. J., van Ravenswaaij, C. M. A., Elias, A. F., Haven, J. A., Lelieveld, S. H., Pfundt, R., Nillesen, W. M., Yntema, H. G., van Roozendaal, K., Stegmann, A. P., Gilissen, C. & Brunner, H. G., 13 Dec 2016, In : Genome Medicine. 8, 131.

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Open Access

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability

Reijnders, M. R. F., Kousi, M., van Woerden, G. M., Klein, M., Bralten, J., Mancini, G. M. S., van Essen, T., Proietti-Onori, M., Smeets, E. E. J., van Gastel, M., Stegmann, A. P. A., Stevens, S. J. C., Lelieveld, S. H., Gilissen, C., Pfundt, R., Tan, P. L., Kleefstra, T., Franke, B., Elgersma, Y., Katsanis, N. & 1 others, Brunner, H. G., 20 Oct 2017, In : Nature Communications. 8, 12 p., 1052.

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Viral load, gene expression and mapping of viral integration sites in HPV16-associated HNSCC cell lines

Olthof, N. C., Huebbers, C. U., Kolligs, J., Henfling, M., Ramaekers, F. C. S., Cornet, I., van Lent-Albrechts, J. A., Stegmann, A. P. A., Silling, S., Wieland, U., Carey, T. E., Walline, H. M., Gollin, S. M., Hoffmann, T. K., de Winter, J., Kremer, B., Klussmann, J. P. & Speel, E-J. M., 1 Mar 2015, In : International Journal of Cancer. 136, 5, p. E207-E218

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