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RICTOR variants are associated with neurodevelopmental disorders.
Carapito R, Molitor A, Pavinato L, Skeyni A, Lambert M, Pichot A, Jiang J, Spinnhirny P, Zimmermann L, Boucher P, Chung CWT, Elserafy N, Blair EM, Li D, Elisabeth B, Kotzaeridou U, Karch S, Wagner M, Lunsing RJ, Pfundt R, Boycott KM, Bruel AL, Mau-Them FT, Moutton S, Conti V, Mei D, Cetica V, Guerrini R, Brunet T, Rump P, Mussa A, Brusco A, Lemire G, de Vries BBA, Miao Z, Isidor B, Bahram S. Carapito R, et al. Among authors: chung cwt. Eur J Hum Genet. 2025 Jul;33(7):966-972. doi: 10.1038/s41431-024-01774-w. Epub 2024 Dec 30. Eur J Hum Genet. 2025. PMID: 39738822
Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome.
Oh RY, Deshwar AR, Marwaha A, Sabha N, Tropak M, Hou H, Yuki KE, Wilson MD, Rump P, Lunsing R, Elserafy N, Chung CWT, Hewson S, Klein-Rodewald T, Calzada-Wack J, Sanz-Moreno A, Kraiger M, Marschall S, Fuchs H, Gailus-Durner V, Hrabe de Angelis M, Dowling J, Schulze A. Oh RY, et al. Among authors: chung cwt. Genet Med. 2022 Nov;24(11):2399-2407. doi: 10.1016/j.gim.2022.07.024. Epub 2022 Sep 9. Genet Med. 2022. PMID: 36083289 Free article.
Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission").
Kirk EP, Ong R, Boggs K, Hardy T, Righetti S, Kamien B, Roscioli T, Amor DJ, Bakshi M, Chung CWT, Colley A, Jamieson RV, Liebelt J, Ma A, Pachter N, Rajagopalan S, Ravine A, Wilson M, Caruana J, Casella R, Davis M, Edwards S, Archibald A, McGaughran J, Newson AJ, Laing NG, Delatycki MB. Kirk EP, et al. Among authors: chung cwt. Eur J Hum Genet. 2021 Jan;29(1):79-87. doi: 10.1038/s41431-020-0685-x. Epub 2020 Jul 16. Eur J Hum Genet. 2021. PMID: 32678339 Free PMC article.
Diagnosis and Management of Children With Tuberous Sclerosis Complex.
Dewell C, Chan DL, Sarkozy V, Farley E, Russell J, Mowat D, Kennedy SE, Chung CWT. Dewell C, et al. Among authors: chung cwt. J Paediatr Child Health. 2025 Nov 21. doi: 10.1111/jpc.70243. Online ahead of print. J Paediatr Child Health. 2025. PMID: 41273003 Review.
12 results