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Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3).
Holinski-Feder E, Reyniers E, Uhrig S, Golla A, Wauters J, Kroisel P, Bossuyt P, Rost I, Jedele K, Zierler H, Schwab S, Wildenauer D, Speicher MR, Willems PJ, Meitinger T, Kooy RF. Holinski-Feder E, et al. Among authors: kooy rf. Am J Hum Genet. 2000 Jan;66(1):16-25. doi: 10.1086/302703. Am J Hum Genet. 2000. PMID: 10631133 Free PMC article.
Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals.
Dingemans AJM, Jansen S, van Reeuwijk J, de Leeuw N, Pfundt R, Schuurs-Hoeijmakers J, van Bon BW, Marcelis C, Ockeloen CW, Willemsen M, van der Sluijs PJ, Santen GWE, Kooy RF, Vulto-van Silfhout AT, Kleefstra T, Koolen DA, Vissers LELM, de Vries BBA. Dingemans AJM, et al. Among authors: kooy rf. Nat Med. 2024 Jul;30(7):1994-2003. doi: 10.1038/s41591-024-03005-7. Epub 2024 May 14. Nat Med. 2024. PMID: 38745008
Genetic modifiers and ascertainment drive variable expressivity of complex disorders.
Jensen M, Smolen C, Tyryshkina A, Pizzo L, Banerjee D, Oetjens M, Shimelis H, Taylor CM, Pounraja VK, Song H, Rohan L, Huber E, El Khattabi L, van de Laar I, Tadros R, Bezzina C, van Slegtenhorst M, Kammeraad J, Prontera P, Caberg JH, Fraser H, Banka S, Van Dijck A, Schwartz C, Voorhoeve E, Callier P, Mosca-Boidron AL, Marle N, Lefebvre M, Pope K, Snell P, Boys A, Lockhart PJ, Ashfaq M, McCready E, Nowacyzk M, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Bruccheri MG, Mandarà GML, Mari F, Privitera F, Longo I, Curró A, Renieri A, Keren B, Charles P, Cuinat S, Nizon M, Pichon O, Bénéteau C, Stoeva R, Martin-Coignard D, Blesson S, Le Caignec C, Mercier S, Vincent M, Martin C, Mannik K, Reymond A, Faivre L, Sistermans E, Kooy RF, Amor DJ, Romano C, Andrieux J, Girirajan S. Jensen M, et al. Among authors: kooy rf. medRxiv [Preprint]. 2024 Aug 28:2024.08.27.24312158. doi: 10.1101/2024.08.27.24312158. medRxiv. 2024. PMID: 39252907 Free PMC article. Preprint.
Tracing the invisible mutant ADNP protein in Helsmoortel-Van der Aa syndrome patients.
D'Incal CP, Cappuyns E, Choukri K, De Man K, Szrama K, Konings A, Bastini L, Van Meel K, Buys A, Gabriele M, Rizzuti L, Vitriolo A, Testa G, Mohn F, Bühler M, Van der Aa N, Van Dijck A, Kooy RF, Berghe WV. D'Incal CP, et al. Among authors: kooy rf. Sci Rep. 2024 Jun 26;14(1):14710. doi: 10.1038/s41598-024-65608-x. Sci Rep. 2024. PMID: 38926592 Free PMC article.
ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel-Van der Aa syndrome autopsy case.
D'Incal C, Van Dijck A, Ibrahim J, De Man K, Bastini L, Konings A, Elinck E, Theys C, Gozes I, Marusic Z, Anicic M, Vukovic J, Van der Aa N, Mateiu L, Vanden Berghe W, Kooy RF. D'Incal C, et al. Among authors: kooy rf. Acta Neuropathol Commun. 2024 Apr 18;12(1):62. doi: 10.1186/s40478-024-01743-w. Acta Neuropathol Commun. 2024. PMID: 38637827 Free PMC article.
The EUROGEM map of human chromosome 13.
Kooy RF, Wijngaard A, Verlind E, Vergnaud G, Scheffer H, Buys CH. Kooy RF, et al. Eur J Hum Genet. 1994;2(3):228-9. Eur J Hum Genet. 1994. PMID: 7834293 No abstract available.
164 results