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127 results

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Page 1
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.
Küry S, Ebstein F, Mollé A, Besnard T, Lee MK, Vignard V, Hery T, Nizon M, Mancini GMS, Giltay JC, Cogné B, McWalter K, Deb W, Mor-Shaked H, Li H, Schnur RE, Wentzensen IM, Denommé-Pichon AS, Fourgeux C, Verheijen FW, Faurie E, Schot R, Stevens CA, Smits DJ, Barr E, Sheffer R, Bernstein JA, Stimach CL, Kovitch E, Shashi V, Schoch K, Smith W, van Jaarsveld RH, Hurst ACE, Smith K, Baugh EH, Bohm SG, Vyhnálková E, Ryba L, Delnatte C, Neira J, Bonneau D, Toutain A, Rosenfeld JA; Undiagnosed Diseases Network; Audebert-Bellanger S, Gilbert-Dussardier B, Odent S, Laumonnier F, Berger SI, Smith ACM, Bourdeaut F, Stern MH, Redon R, Krüger E, Margueron R, Bézieau S, Poschmann J, Isidor B. Küry S, et al. Among authors: smits dj. Am J Hum Genet. 2022 Feb 3;109(2):361-372. doi: 10.1016/j.ajhg.2021.12.011. Epub 2022 Jan 19. Am J Hum Genet. 2022. PMID: 35051358 Free PMC article.
A YAP-centered mechanotransduction loop drives collective breast cancer cell invasion.
Khalil AA, Smits D, Haughton PD, Koorman T, Jansen KA, Verhagen MP, van der Net M, van Zwieten K, Enserink L, Jansen L, El-Gammal AG, Visser D, Pasolli M, Tak M, Westland D, van Diest PJ, Moelans CB, Roukens MG, Tavares S, Fortier AM, Park M, Fodde R, Gloerich M, Zwartkruis FJT, Derksen PW, de Rooij J. Khalil AA, et al. Among authors: smits d. Nat Commun. 2024 Jun 7;15(1):4866. doi: 10.1038/s41467-024-49230-z. Nat Commun. 2024. PMID: 38849373 Free PMC article.
Reply.
van der Horst N, Priesterbach A, Backx F, Smits DW. van der Horst N, et al. Among authors: smits dw. Clin J Sport Med. 2018 Nov;28(6):e98-e99. doi: 10.1097/JSM.0000000000000467. Clin J Sport Med. 2018. PMID: 29847411 No abstract available.
SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes.
Smits DJ, Schot R, Krusy N, Wiegmann K, Utermöhlen O, Mulder MT, den Hoedt S, Yoon G, Deshwar AR, Kresge C, Pletcher B, van Mook M, Ferreira MS, Poot RA, Slotman JA, Kremers GJ, Ahmad A, Albash B, Bastaki L, Marafi D, Dekker J, van Ham TJ, Nguyen L, Mancini GMS. Smits DJ, et al. Brain. 2023 Aug 1;146(8):3528-3541. doi: 10.1093/brain/awad033. Brain. 2023. PMID: 36732302 Free PMC article.
Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome.
Smits DJ, Dekker J, Douben H, Schot R, Magee H, Bakhtiari S, Koehler K, Huebner A, Schuelke M, Darvish H, Vosoogh S, Tafakhori A, Jameie M, Taghiabadi E, Wilson Y, Shah M, van Slegtenhorst MA, Medici-van den Herik EG, van Ham TJ, Kruer MC, Mancini GMS. Smits DJ, et al. HGG Adv. 2024 Oct 10;5(4):100327. doi: 10.1016/j.xhgg.2024.100327. Epub 2024 Jul 14. HGG Adv. 2024. PMID: 39003500 Free PMC article.
Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders.
Smits DJ, Debuy C, Brooks AS, Schot R, Ferraro F, Rots D, Bouman A, Verhoeven VJM, Donker Kaat L, Kant SG, van Bever Y, Demirdas S, Zeidler S, van Dooren MF, Donze SH, Hoefsloot LH, van Slegtenhorst MA, Wilke M, Sleutels F, Drost M, Brüggenwirth HT, van Minkelen R, Goverde A, Hol JA, van de Laar IMBH, van Ierland Y, Kievit A, van der Schoot V, Stuurman KE, Mancini GMS, Wessels MW, van Ham TJ, Kleefstra T, Barakat TS. Smits DJ, et al. Eur J Hum Genet. 2025 Oct;33(10):1281-1289. doi: 10.1038/s41431-025-01919-5. Epub 2025 Jul 29. Eur J Hum Genet. 2025. PMID: 40730689
127 results