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AUTS2-related syndrome:Insights from a large European cohort

von Loberti, Lorenzo ; Adamo, Loredaria ; Antolini, Enrica ; et al.

Loberti, L, Adamo, L, Antolini, E, Casamassima, G, Destrèe, A, Brunetti-Pierri, N, Genevieve, D, Christophe, P, Coubes, C, Van Esch, H, Herget, T, Kortüm, F, Lisfeld, J, Möllring, A C, Zenker, M, Levy, J, Perrin, L, Tabet, A C, Maruani, A, Sorlin, A, Stieber, D, Herissant, L, Dahan, K, Sinibaldi, L, Capolino, R, Dentici, M L, Dallapiccola, B, Novelli, A, Garavelli, L, Caraffi, S G, Piatelli, G, Valenzuela, I, Digilio, M C, Caumes, R, Knopp, C, Chwiałkowska, K, Jezela-Stanek, A, Kwasniewski, M, Korotko, U, Gorzałczyńska, E, Canitano, R, Grosso, S, Rahikkala, E, Mattern, L, Elbracht, M, Zuffardi, O, Caputo, V, Toschi, B, Beunders, G, Leeuwen, L, Elting, M W, van der Laan, L, Broekema, M F, Groffen, A J, van de Kamp, J M, van Haelst, M M, Alders, M, Mauro, S P, De Razza, F, Varvara, D, Kick, J, Gaspar, H, Braun, D, Lausberg, E, Maier, A, Ruault, V, Genesio, R, Tartaglia, M, Tita, R, Bruttini, M, Longo, I, Baldassarri, M, Mencarelli, M A, Renieri, A & Pinto, A M 2025, 'AUTS2-related syndrome : Insights from a large European cohort', Genetics in Medicine, vol. 27, no. 6, 101375.

Schlagworte: AUTS2; AUTS2-syndrome; Dysmorphology; Genotype-phenotype; Neurodevelopmental disorder; article; info:eu-repo/semantics/publishedVersion
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8
Recontacting in light of new genetic diagnostic techniques for patients with intellectual disability: Feasibility and parental perspectives

von Beunders, Gea ; Dekker, Melodi ; Haver, Oscar ; et al.

In European Journal of Medical Genetics April 2018 61(4):213-218
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Strategies in Rapid Genetic Diagnostics of Critically Ill Children: Experiences From a Dutch University Hospital

von Miriam E. Imafidon ; Birgit Sikkema-Raddatz ; Kristin M. Abbott ; et al.

Frontiers in Pediatrics, Vol 9 (2021)

Schlagworte: neonatal intensive care (unit); next generation sequencing; genetic diagnostics; copy number variation; genetic disease; Pediatrics; RJ1-570
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De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

von Diets, Illja J. ; van der Donk, Roos ; Baltrunaite, Kristina ; et al.

Diets, I J, van der Donk, R, Baltrunaite, K, Waanders, E, Reijnders, M R F, Dingemans, A J M, Pfundt, R, Vulto-van Silfhout, A T, Wiel, L, Gilissen, C, Thevenon, J, Perrin, L, Afenjar, A, Nava, C, Keren, B, Bartz, S, Peri, B, Beunders, G, Verbeek, N, van Gassen, K, Thiffault, I, Cadieux-Dion, M, Huerta-Saenz, L, Wagner, M, Konstantopoulou, V, Vodopiutz, J, Griese, M, Boel, A, Callewaert, B, Brunner, H G, Kleefstra, T, Hoogerbrugge, N, de Vries, B B A, Hwa, V, Dauber, A, Hehir-Kwa, J Y, Kuiper, R P & Jongmans, M C J 2019, 'De Novo and ....
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Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

von Genetica ; Genetica Klinische Genetica ; Genetica Sectie Genoomdiagnostiek ; et al.
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Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

von Beunders, Gea ; Voorhoeve, Els ; Golzio, Christelle ; et al.

In The American Journal of Human Genetics 7 February 2013 92(2):210-220
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POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum

von Rossi, Alessandra ; Blok, Lot Snijders ; Neuser, Sonja ; et al.

Schlagworte: POU3F3; autism; cupped ear; epilepsy; neurodevelopmental disorder
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The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

von Koolen, David A. ; Pfundt, Rolph ; Linda, Katrin ; et al.

Koolen, D A, Pfundt, R, 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, 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, ....
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POU3F3-related disorder:Defining the phenotype and expanding the molecular spectrum

von Rossi, Alessandra ; Blok, Lot Snijders ; Neuser, Sonja ; et al.

Rossi, A, Blok, L S, Neuser, S, Klöckner, C, Platzer, K, Faivre, L O, Weigand, H, Dentici, M L, Tartaglia, M, Niceta, M, Alfieri, P, Srivastava, S, Coulter, D, Smith, L, Vinorum, K, Cappuccio, G, Brunetti-Pierri, N, Torun, D, Arslan, M, Lauridsen, M F, Murch, O, Irving, R, Lynch, S A, Mehta, S G, Carmichael, J, Zonneveld-Huijssoon, E, de Vries, B, Kleefstra, T, Johannesen, K M, Westphall, I T, Hughes, S S, Smithson, S, Evans, J, Dudding-Byth, T, Simon, M, van Binsbergen, E, Herkert, J C, Beunders, G, Oppermann, H, Bakal, M, Møller, R S, Rubboli, G & Bayat, A 2023, 'POU3F3-related disorder : Defining the phenotype and expanding the molecular spectrum', Clinical Genetics, vol. 104, no. 2, pp. 186-197.

Schlagworte: autism; cupped ears; epilepsy; neurodevelopmental disorder; POU3F3; article; info:eu-repo/semantics/publishedVersion
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POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum

von Genetica Klinische Genetica ; Genetica Sectie Genoomdiagnostiek ; Child Health ; et al.
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Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome

von Beunders, Gea ; de Munnik, Sonja A ; Van der Aa, Nathalie ; et al.

European Journal of Human Genetics ; volume 23, issue 6, page 803-807 ; ISSN 1018-4813 1476-5438
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Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome

von Brain ; Genetica Klinische Genetica ; van der Spek, Jet ; et al.
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A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms

von Beunders, Gea ; van de Kamp, Jiddeke M ; Veenhoven, Reinier H ; et al.

Schlagworte: Letter to JMG
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Strategies in Rapid Genetic Diagnostics of Critically Ill Children:Experiences From a Dutch University Hospital

von Imafidon, Miriam E. ; Sikkema-Raddatz, Birgit ; Abbott, Kristin M. ; et al.

Imafidon, M E, Sikkema-Raddatz, B, Abbott, K M, Meems-Veldhuis, M T, Swertz, M A, van der Velde, K J, Beunders, G, Bos, D K, Knoers, N V A M, Kerstjens-Frederikse, W S & van Diemen, C C 2021, 'Strategies in Rapid Genetic Diagnostics of Critically Ill Children : Experiences From a Dutch University Hospital', Frontiers in Pediatrics, vol. 9, 600556.

Schlagworte: neonatal intensive care (unit); next generation sequencing; genetic diagnostics; copy number variation; genetic disease; MEDICAL GENETICS; AMERICAN-COLLEGE; CLINICAL EXOME; article; info:eu-repo/semantics/publishedVersion
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21
DLG4-related synaptopathy:a new rare brain disorder

von Rodriguez-Palmero, Agusti ; Boerrigter, Melissa Maria ; Gomez-Andres, David ; et al.

Rodriguez-Palmero, A, Boerrigter, M M, Gomez-Andres, D, Aldinger, K A, Marcos-Alcalde, I, Popp, B, Everman, D B, Lovgren, A K, Arpin, S, Bahrambeigi, V, Beunders, G, Bisgaard, A-M, Bjerregaard, V A, Bruel, A-L, Challman, T D, Cogne, B, Coubes, C, de Man, S A, Denomme-Pichon, A-S, Dye, T J, Elmslie, F, Feuk, L, Garcia-Minaur, S, Gertler, T, Giorgio, E, Gruchy, N, Haack, T B, Haldeman-Englert, C R, Haukanes, B I, Hoyer, J, Hurst, A C E, Isidor, B, Soller, M J, Kushary, S, Kvarnung, M, Landau, Y E, Leppig, K A, Lindstrand, A, Kleinendorst, L, MacKenzie, A, Mandrile, G, Mendelsohn, B A, Moghadasi, S, Morton, J E, Moutton, S, Mueller, A J, O'Leary, M, Pacio-Miguez, M, Palomares-Bralo, M, Parikh, S, Pfundt, R, Pode-Shakked, B, Rauch, A, Repnikova, E, Revah-Politi, A, Ross, M J, Ruivenkamp, C A L, Sarrazin, E, Savatt, J M, Schlueter, A, Schoenewolf-Greulich, B, Shad, Z, Shaw-Smith, C, Shieh, J T, Shohat, M, Spranger, S, Thiese, H, Mau-Them, F T, van Bon, B, van de Burgt, I, van de Laar, I M B H, van Drie, E, van Haelst, M M, van Ravenswaaij-Arts, C M, Verdura, E, Vitobello, A, Waldmueller, S, Whiting, S, Zweier, C, Prada, C E, de Vries, B B A, Dobyns, W B, Reiter, S F, Gomez-Puertas, P, Pujol, A & Tumer, Z 2021, 'DLG4-related synaptopathy : a new rare brain disorder', Genetics in Medicine.

Schlagworte: article; info:eu-repo/semantics/publishedVersion
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22
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

von Genetica ; UMC Utrecht ; Genetica Klinische Genetica ; et al.
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23
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24
A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype

von Beunders, Gea ; van de Kamp, Jiddeke ; Vasudevan, Pradeep ; et al.

Beunders, G, van de Kamp, J, Vasudevan, P, Morton, J, Smets, K, Kleefstra, T, de Munnik, S A, Schuurs-Hoeijmakers, J, Ceulemans, B, Zollino, M, Hoffjan, S, Wieczorek, S, So, J, Mercer, L, Walker, T, Velsher, L, Parker, M J, Magee, A C, Elffers, B, Frank Kooy, R, Yntema, H G, Meijers-Heijboer, E J, Sistermans, E A & The DDD study, DDD S 2016, 'A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype', Journal of Medical Genetics, vol. 53, no. 8, pp. 523-532. https://doi.org/10.1136/jmedgenet-2015-103601
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25
The Koolen-de Vries syndrome:A phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

von Koolen,David A. ; Pfundt,Rolph ; Linda,Katrin ; et al.

Schlagworte: Genetics(clinical); Genetics; Journal Article; Research Support; Non-U.S. Gov't
- Zum Volltext in PubMed Central
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